A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders.
An adrenal microsomal cytochrome P450 enzyme that catalyzes the 21-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP21 gene, converts progesterones to precursors of adrenal steroid hormones (CORTICOSTERONE; HYDROCORTISONE). Defects in CYP21 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).
An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells.
A pair of glands located at the cranial pole of each of the two KIDNEYS. Each adrenal gland is composed of two distinct endocrine tissues with separate embryonic origins, the ADRENAL CORTEX producing STEROIDS and the ADRENAL MEDULLA producing NEUROTRANSMITTERS.
A metabolite of PROGESTERONE with a hydroxyl group at the 17-alpha position. It serves as an intermediate in the biosynthesis of HYDROCORTISONE and GONADAL STEROID HORMONES.
Pathological processes of the ADRENAL GLANDS.
Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM.
A metabolite of 17-ALPHA-HYDROXYPROGESTERONE, normally produced in small quantities by the GONADS and the ADRENAL GLANDS, found in URINE. An elevated urinary pregnanetriol is associated with CONGENITAL ADRENAL HYPERPLASIA with a deficiency of STEROID 21-HYDROXYLASE.
A synthetic mineralocorticoid with anti-inflammatory activity.
Metabolites or derivatives of PROGESTERONE with hydroxyl group substitution at various sites.
The outer layer of the adrenal gland. It is derived from MESODERM and comprised of three zones (outer ZONA GLOMERULOSA, middle ZONA FASCICULATA, and inner ZONA RETICULARIS) with each producing various steroids preferentially, such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and ANDROSTENEDIONE. Adrenal cortex function is regulated by pituitary ADRENOCORTICOTROPIN.
Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion.
Tumors or cancer of the ADRENAL GLANDS.
Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An anterior pituitary hormone that stimulates the ADRENAL CORTEX and its production of CORTICOSTEROIDS. ACTH is a 39-amino acid polypeptide of which the N-terminal 24-amino acid segment is identical in all species and contains the adrenocorticotrophic activity. Upon further tissue-specific processing, ACTH can yield ALPHA-MSH and corticotrophin-like intermediate lobe peptide (CLIP).
Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS.
Tumors or cancers of the ADRENAL CORTEX.
The inner portion of the adrenal gland. Derived from ECTODERM, adrenal medulla consists mainly of CHROMAFFIN CELLS that produces and stores a number of NEUROTRANSMITTERS, mainly adrenaline (EPINEPHRINE) and NOREPINEPHRINE. The activity of the adrenal medulla is regulated by the SYMPATHETIC NERVOUS SYSTEM.
17,21-Dihydroxypregn-4-ene-3,20-dione. A 17-hydroxycorticosteroid with glucocorticoid and anti-inflammatory activities.
Steroids that contain a ketone group at position 17.
Pathological processes of the ADRENAL CORTEX.
The main glucocorticoid secreted by the ADRENAL CORTEX. Its synthetic counterpart is used, either as an injection or topically, in the treatment of inflammation, allergy, collagen diseases, asthma, adrenocortical deficiency, shock, and some neoplastic conditions.
Excision of one or both adrenal glands. (From Dorland, 28th ed)
A group of CORTICOSTEROIDS primarily associated with water and electrolyte balance. This is accomplished through the effect on ION TRANSPORT in renal tubules, resulting in retention of sodium and loss of potassium. Mineralocorticoid secretion is itself regulated by PLASMA VOLUME, serum potassium, and ANGIOTENSIN II.
A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth.
A mitochondrial cytochrome P450 enzyme that catalyzes the 11-beta-hydroxylation of steroids in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP11B1 gene, is important in the synthesis of CORTICOSTERONE and HYDROCORTISONE. Defects in CYP11B1 cause congenital adrenal hyperplasia (ADRENAL HYPERPLASIA, CONGENITAL).
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA.
Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.
A 21-carbon steroid that is converted from PREGNENOLONE by STEROID 17-ALPHA-HYDROXYLASE. It is an intermediate in the delta-5 pathway of biosynthesis of GONADAL STEROID HORMONES and the adrenal CORTICOSTEROIDS.
Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant.
A benign neoplasm of the ADRENAL CORTEX. It is characterized by a well-defined nodular lesion, usually less than 2.5 cm. Most adrenocortical adenomas are nonfunctional. The functional ones are yellow and contain LIPIDS. Depending on the cell type or cortical zone involved, they may produce ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE.
An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).
A synthetic peptide that is identical to the 24-amino acid segment at the N-terminal of ADRENOCORTICOTROPIC HORMONE. ACTH (1-24), a segment similar in all species, contains the biological activity that stimulates production of CORTICOSTEROIDS in the ADRENAL CORTEX.
Establishment of the age of an individual by examination of their skeletal structure.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic.
A group of CORTICOSTEROIDS that affect carbohydrate metabolism (GLUCONEOGENESIS, liver glycogen deposition, elevation of BLOOD SUGAR), inhibit ADRENOCORTICOTROPIC HORMONE secretion, and possess pronounced anti-inflammatory activity. They also play a role in fat and protein metabolism, maintenance of arterial blood pressure, alteration of the connective tissue response to injury, reduction in the number of circulating lymphocytes, and functioning of the central nervous system.
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
A delta-4 C19 steroid that is produced not only in the TESTIS, but also in the OVARY and the ADRENAL CORTEX. Depending on the tissue type, androstenedione can serve as a precursor to TESTOSTERONE as well as ESTRONE and ESTRADIOL.
A hormone secreted by the ADRENAL CORTEX that regulates electrolyte and water balance by increasing the renal retention of sodium and the excretion of potassium.
Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.
The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY.
A benign epithelial tumor with a glandular organization.
Cytochrome P-450 monooxygenases (MIXED FUNCTION OXYGENASES) that are important in steroid biosynthesis and metabolism.
Physiological processes, factors, properties and characteristics pertaining to REPRODUCTION.
Compounds that interact with ANDROGEN RECEPTORS in target tissues to bring about the effects similar to those of TESTOSTERONE. Depending on the target tissues, androgenic effects can be on SEX DIFFERENTIATION; male reproductive organs, SPERMATOGENESIS; secondary male SEX CHARACTERISTICS; LIBIDO; development of muscle mass, strength, and power.
An anti-inflammatory 9-fluoro-glucocorticoid.
Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.
An infant during the first month after birth.
A major C19 steroid produced by the ADRENAL CORTEX. It is also produced in small quantities in the TESTIS and the OVARY. Dehydroepiandrosterone (DHEA) can be converted to TESTOSTERONE; ANDROSTENEDIONE; ESTRADIOL; and ESTRONE. Most of DHEA is sulfated (DEHYDROEPIANDROSTERONE SULFATE) before secretion.
Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Adrenal cortex hormones are steroid hormones produced by the outer portion of the adrenal gland, consisting of glucocorticoids, mineralocorticoids, and androgens, which play crucial roles in various physiological processes such as metabolism regulation, stress response, electrolyte balance, and sexual development and function.
Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400)
A period in the human life in which the development of the hypothalamic-pituitary-gonadal system takes place and reaches full maturity. The onset of synchronized endocrine events in puberty lead to the capacity for reproduction (FERTILITY), development of secondary SEX CHARACTERISTICS, and other changes seen in ADOLESCENT DEVELOPMENT.
Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)
A group of polycyclic compounds closely related biochemically to TERPENES. They include cholesterol, numerous hormones, precursors of certain vitamins, bile acids, alcohols (STEROLS), and certain natural drugs and poisons. Steroids have a common nucleus, a fused, reduced 17-carbon atom ring system, cyclopentanoperhydrophenanthrene. Most steroids also have two methyl groups and an aliphatic side-chain attached to the nucleus. (From Hawley's Condensed Chemical Dictionary, 11th ed)
Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. The nodule, poorly encapsulated, consists of a central stellate fibrous scar and normal liver elements such as HEPATOCYTES, small BILE DUCTS, and KUPFFER CELLS among the intervening fibrous septa. The pale colored central scar represents large blood vessels with hyperplastic fibromuscular layer and narrowing lumen.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
An infant born at or after 42 weeks of gestation.
The external and internal organs related to reproduction.
A potent androgenic steroid and major product secreted by the LEYDIG CELLS of the TESTIS. Its production is stimulated by LUTEINIZING HORMONE from the PITUITARY GLAND. In turn, testosterone exerts feedback control of the pituitary LH and FSH secretion. Depending on the tissues, testosterone can be further converted to DIHYDROTESTOSTERONE or ESTRADIOL.
Surgery performed on the pregnant woman for conditions associated with pregnancy, labor, or the puerperium. It does not include surgery of the newborn infant.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Syndromes resulting from inappropriate production of HORMONES or hormone-like materials by NEOPLASMS in non-endocrine tissues or not by the usual ENDOCRINE GLANDS. Such hormone outputs are called ectopic hormone (HORMONES, ECTOPIC) secretion.
A mitochondrial cytochrome P450 enzyme that catalyzes the side-chain cleavage of C27 cholesterol to C21 pregnenolone in the presence of molecular oxygen and NADPH-FERRIHEMOPROTEIN REDUCTASE. This enzyme, encoded by CYP11A1 gene, catalyzes the breakage between C20 and C22 which is the initial and rate-limiting step in the biosynthesis of various gonadal and adrenal steroid hormones.
Catalyze the oxidation of 3-hydroxysteroids to 3-ketosteroids.
Cell surface proteins that bind gastrointestinal hormones with high affinity and trigger intracellular changes influencing the behavior of cells. Most gastrointestinal hormones also act as neurotransmitters so these receptors are also present in the central and peripheral nervous systems.
Specific molecular sites or proteins on or in cells to which VASOPRESSINS bind or interact in order to modify the function of the cells. Two types of vasopressin receptor exist, the V1 receptor in the vascular smooth muscle and the V2 receptor in the kidneys. The V1 receptor can be subdivided into V1a and V1b (formerly V3) receptors.
A highly specific (Leu-Leu) endopeptidase that generates ANGIOTENSIN I from its precursor ANGIOTENSINOGEN, leading to a cascade of reactions which elevate BLOOD PRESSURE and increase sodium retention by the kidney in the RENIN-ANGIOTENSIN SYSTEM. The enzyme was formerly listed as EC 3.4.99.19.
The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.
The innermost layer of an artery or vein, made up of one layer of endothelial cells and supported by an internal elastic lamina.
A glycoprotein that is important in the activation of CLASSICAL COMPLEMENT PATHWAY. C4 is cleaved by the activated COMPLEMENT C1S into COMPLEMENT C4A and COMPLEMENT C4B.
Therapeutic use of hormones to alleviate the effects of hormone deficiency.
Classic quantitative assay for detection of antigen-antibody reactions using a radioactively labeled substance (radioligand) either directly or indirectly to measure the binding of the unlabeled substance to a specific antibody or other receptor system. Non-immunogenic substances (e.g., haptens) can be measured if coupled to larger carrier proteins (e.g., bovine gamma-globulin or human serum albumin) capable of inducing antibody formation.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Identification of genetic carriers for a given trait.
Genes bearing close resemblance to known genes at different loci, but rendered non-functional by additions or deletions in structure that prevent normal transcription or translation. When lacking introns and containing a poly-A segment near the downstream end (as a result of reverse copying from processed nuclear RNA into double-stranded DNA), they are called processed genes.
A naturally occurring glucocorticoid. It has been used in replacement therapy for adrenal insufficiency and as an anti-inflammatory agent. Cortisone itself is inactive. It is converted in the liver to the active metabolite HYDROCORTISONE. (From Martindale, The Extra Pharmacopoeia, 30th ed, p726)
Examinations that evaluate and monitor hormone production in the adrenal cortex.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Biochemical identification of mutational changes in a nucleotide sequence.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
A general class of ortho-dihydroxyphenylalkylamines derived from tyrosine.
A gastrointestinal peptide hormone of about 43-amino acids. It is found to be a potent stimulator of INSULIN secretion and a relatively poor inhibitor of GASTRIC ACID secretion.

Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis. (1/446)

21-hydroxylase deficiency is a recessively inherited disorder of steroidogenesis, resulting from mutations in the CYP21 gene. This 3.5 kb gene and a highly related CYP21P pseudogene reside on tandemly duplicated 30 kb segments of DNA in the class III HLA region, and the great majority of pathogenic mutations result from sequence exchanges involving the duplicated units. We now describe a comprehensive survey of CYP21 mutations in the British population, encompassing a screen for 17 different mutations in a total of 284 disease chromosomes. The most common mutations were as follows: large scale deletions/conversions (45% of the affected chromosomes), the intron 2 splice mutation (30.3%), R357W (9.8%), and I172N (7.0%). Mutations were detected in over 92% of the chromosomes examined, suggesting that accurate DNA based diagnosis is possible in most cases using the described strategy. In order to extend highly accurate prenatal diagnosis to all families where samples are available from a previously affected child, we have developed a linkage analysis approach using novel, highly informative microsatellite markers from the class III HLA region.  (+info)

Congenital adrenal hyperplasia: not really a zebra. (2/446)

Congenital adrenal hyperplasia was once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis. Both classic and nonclassic forms of the disease are caused by deficiencies in the adrenal enzymes that are used to synthesize glucocorticoids. The net result is increased production from the adrenal gland of cortisol precursors and androgens. Even mild congenital adrenal hyperplasia can result in life-threatening sinus or pulmonary infections, orthostatic syncope, shortened stature and severe acne. Women with mild congenital adrenal hyperplasia often present with hirsutism, oligomenorrhea or infertility. Congenital adrenal hyperplasia is diagnosed by demonstration of excess cortisol precursors in the serum during an adrenal corticotropic hormone challenge. Diagnosis of congenital adrenal hyerplasia in fetuses that are at risk for congenital adrenal hyperplasia can be determined using human leukocyte antigen haplotype or by demonstration of excess cortisol precursors in amniotic fluid. Treatment includes carefully monitored hormone replacement therapy. Recognition of the problem and timely replacement therapy can reduce morbidity and enhance quality of life in patients that are affected by congenital adrenal hyperplasia.  (+info)

Tracing past population migrations: genealogy of steroid 21-hydroxylase (CYP21) gene mutations in Finland. (3/446)

The genealogic origin of steroid 21-hydroxylase gene (CYP21) mutations and associated haplotypes was determined in 74 unrelated Finnish families with CYP21 deficiency (congenital adrenal hyperplasia, CAH). These families account for two thirds (85/119) of all diagnosed patients of Finnish descent found in this country. We recently demonstrated that multiple founder mutations each associated with a particular haplotype can be found in Finland. Interestingly, some of the haplotypes were identical to those observed in various European populations, whereas others have not been described elsewhere, indicating a local and perhaps a more recent origin. In the present report we show that each of the major founder haplotypes originates from a particular geographic region of Finland. Thus many local genetic isolates are to be expected in Finland. Our finding is in a clear contrast to the genetic diseases known as the 'Finnish disease heritage', in which only one mutation usually predominates. Some of the CYP21 haplotypes proved very informative for analysis of the history of the Finnish population. For example, the origin of one frequent haplotype was shown to cluster in a region assumed by archaeological data to be a major site of immigration by settlers of either Scandinavian or Baltic origin during the first centuries AD. As this haplotype is frequent in many European patient populations, we provide independent genetic evidence of this Iron Age immigration. On the other hand, another frequent haplotype found solely in Finland reflects a more recent (post 15th century) settlement expansion. Consequently, well characterised and sufficiently frequent autosomal gene markers can provide useful information on migrations both between and within populations.  (+info)

Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations. (4/446)

The frequent variations of human complement component C4 gene size and gene numbers, plus the extensive polymorphism of the proteins, render C4 an excellent marker for major histocompatibility complex disease associations. As shown by definitive RFLPs, the tandemly arranged genes RP, C4, CYP21, and TNX are duplicated together as a discrete genetic unit termed the RCCX module. Duplications of the RCCX modules occurred by the addition of genomic fragments containing a long (L) or a short (S) C4 gene, a CYP21A or a CYP21B gene, and the gene fragments TNXA and RP2. Four major RCCX structures with bimodular L-L, bimodular L-S, monomodular L, and monomodular S are present in the Caucasian population. These modules are readily detectable by TaqI RFLPs. The RCCX modular variations appear to be a root cause for the acquisition of deleterious mutations from pseudogenes or gene segments in the RCCX to their corresponding functional genes. In a patient with congenital adrenal hyperplasia, we discovered a TNXB-TNXA recombinant with the deletion of RP2-C4B-CYP21B. Elucidation of the DNA sequence for the recombination breakpoint region and sequence analyses yielded definitive proof for an unequal crossover between TNXA from a bimodular chromosome and TNXB from a monomodular chromosome.  (+info)

Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia. (5/446)

BACKGROUND: Intron 2 of CYP21, the functional steroid 21-hydroxylase gene contains several single-nucleotide polymorphisms (SNPs). We tested the hypothesis that intron 2 of the pseudogene, CYP21P, might also be polymorphic and provide markers for segregation analysis of this region of the genome, including observable markers for segregation analysis of CYP21 gene deletions. A comparison of SNPs in both genes might provide insights into the rates of mutation in these duplicated genes. METHODS: After amplification with PCR, we examined restriction site polymorphisms in intron 2 of CYP21P in 24 members of the parental generation of the Centre d'Etude du Polymorphisme Humain families and selected offspring. RESULTS: Intron 2 of CYP21P contains frequent SNPs around nucleotide 398 and nucleotide 509, which can be typed by PCR/restriction enzyme digestion with HaeIII. Of the 48 CYP21P alleles examined, 44 could be characterized unambiguously. Of these 44 alleles, 4 were deleted, and the frequencies of restriction at the polymorphic HaeIII sites were 20 of 40 at nucleotide 398 and 30 of 40 at nucleotide 509. Both polymorphisms result from C-->T transitions that occur at CpG dinucleotides. The frequencies of C at these nucleotides in CYP21P are significantly higher than at the corresponding nucleotides in CYP21 of the same individuals (P <0.01). CONCLUSION: These data suggest that these CpG dinucleotides are more frequently mutated in CYP21 than in CYP21P, and that several mutations at CpG dinucleotides in the coding regions of CYP21 might result from CpG instability rather than the more usually proposed mechanism of gene conversion. These frequent SNPs provide useful markers for studying both allelic segregation of CYP21, particularly for chromosomes with known CYP21 deletions, and for investigating the origin of these polymorphisms.  (+info)

Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease. (6/446)

Steroid 21-hydroxylase deficiency, due to the genetic impairment of the CYP21 gene, is a major cause of congenital adrenal hyperplasia (CAH). In about 80% of the cases, the defect is related with the transfer of deleterious point mutations from the CYP21P pseudogene to the active CYP21 gene. Sixteen different point mutations have been searched for in 60 Spanish patients with the classic form of CAH and 171 unaffected family members, using selective amplification of the CYP21 gene followed by allele-specific oligonucleotide hybridization (PCR-ASOH) and sequencing analysis. While 31.9% of the disease alleles carry CYP21 deletions or large gene conversions, around 58% of the alleles carry single point mutations. Corresponding segregation of mutations was found in every case indicating that none of them has apparently appeared de novo. The most frequent mutations found in our sample are i2G, V281L, R356W, Q318X, P453S and F306+t, with rates of 30, 14.2, 10, 9.2, 9.2 and 7. 5%, respectively. We found similar frequencies for the A and C polymorphism at position 656 (40 and 31.5%, respectively) in wild-type alleles for the i2G mutation. Around 10% of the alleles, for which no mutations were identified by searching for the sixteen previously known mutations, are currently being sequenced and new possible mutations and polymorphisms have been identified.  (+info)

Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia. (7/446)

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is most often caused by a deficiency in steroid 21-hydroxylase. The disease is characterized by a range of impaired adrenal cortisol and aldosterone synthesis combined with an increased androgen synthesis. These metabolic abnormalities lead to an inability to conserve sodium and virilization of females. The most common mutation causing the severe form of CAH is a conversion of an A or C at nucleotide (nt) 656 to a G in the second intron of the steroid 21-hydroxylase gene (CYP21) causing aberrant splicing of mRNA. A couple was referred to our centre for preimplantation genetic diagnosis (PGD) for 21-hydroxylase deficiency in CAH. A PGD was set up to detect the nt656 A/C-->G mutation using fluorescent polymerase chain reaction (PCR) and subsequent restriction enzyme digestion and fragment analysis on an automated sequencer. Using DNA or single cells from the father, the normal allele could not be amplified. Non-amplification of the normal allele has been previously described in asymptomatic carriers, therefore the PCR was further developed using heterozygous lymphoblasts from the mother. The PCR was shown to be highly efficient (96% amplification), accurate (0% contamination) and reliable (0% allelic drop-out). The couple started PGD treatment and the second PGD cycle resulted in a twin pregnancy. The genotype of the fetuses was determined in our laboratory using chorionic villus sampling material using the method described here. Both fetuses were shown to be heterozygous carriers of the mutation, and two healthy girls were born.  (+info)

Adrenomedullary function is severely impaired in 21-hydroxylase-deficient mice. (8/446)

Deficiency of 21-hydroxylase (21-OH), one of the most common genetic defects in humans, causes low glucocorticoid and mineralocorticoid production by the adrenal cortex, but the effect of this disorder on the adrenomedullary system is unknown. Therefore, we analyzed the development, structure, and function of the adrenal medulla in 21-OH-deficient mice, an animal model resembling human congenital adrenal hyperplasia. Chromaffin cells of 21-OH-deficient mice exhibited ultrastructural features of neuronal transdifferentiation with reduced granules, increased rough endoplasmic reticulum and small neurite outgrowth. Migration of chromaffin cells in the adrenal to form a central medulla was impaired. Expression of phenylethanolamine-N-methyltransferase (PNMT) was reduced to 27 +/- 9% (P<0.05), as determined by quantitative TaqMan polymerase chain reaction, and there was a significant reduction of cells staining positive for PNMT in the adrenal medulla of the 21-OH-deficient mice. Adrenal contents of epinephrine were decreased to 30 +/- 2% (P<0. 01) whereas norepinephrine and dopamine levels were reduced to 57 +/- 4% (P<0.01) and 50 +/- 9% (P<0.05), respectively. 21-OH-deficient mice demonstrate severe adrenomedullary dysfunction, with alterations in chromaffin cell migration, development, structure, and catecholamine synthesis. This hitherto unrecognized mechanism may contribute to the frequent clinical, mental, and therapeutic problems encountered in humans with this genetic disease.  (+info)

Congenital Adrenal Hyperplasia (CAH) is a group of inherited genetic disorders that affect the adrenal glands, which are triangular-shaped glands located on top of the kidneys. The adrenal glands are responsible for producing several essential hormones, including cortisol, aldosterone, and androgens.

CAH is caused by mutations in genes that code for enzymes involved in the synthesis of these hormones. The most common form of CAH is 21-hydroxylase deficiency, which affects approximately 90% to 95% of all cases. Other less common forms of CAH include 11-beta-hydroxylase deficiency and 3-beta-hydroxysteroid dehydrogenase deficiency.

The severity of the disorder can vary widely, depending on the degree of enzyme deficiency. In severe cases, the lack of cortisol production can lead to life-threatening salt wasting and electrolyte imbalances in newborns. The excess androgens produced due to the enzyme deficiency can also cause virilization, or masculinization, of female fetuses, leading to ambiguous genitalia at birth.

In milder forms of CAH, symptoms may not appear until later in childhood or even adulthood. These may include early puberty, rapid growth followed by premature fusion of the growth plates and short stature, acne, excessive hair growth, irregular menstrual periods, and infertility.

Treatment for CAH typically involves replacing the missing hormones with medications such as hydrocortisone, fludrocortisone, and/or sex hormones. Regular monitoring of hormone levels and careful management of medication doses is essential to prevent complications such as adrenal crisis, growth suppression, and osteoporosis.

In severe cases of CAH, early diagnosis and treatment can help prevent or minimize the risk of serious health problems and improve quality of life. Genetic counseling may also be recommended for affected individuals and their families to discuss the risks of passing on the disorder to future generations.

Steroid 21-hydroxylase, also known as CYP21A2, is a crucial enzyme involved in the synthesis of steroid hormones in the adrenal gland. Specifically, it catalyzes the conversion of 17-hydroxyprogesterone to 11-deoxycortisol and progesterone to deoxycorticosterone in the glucocorticoid and mineralocorticoid pathways, respectively.

Deficiency or mutations in this enzyme can lead to a group of genetic disorders called congenital adrenal hyperplasia (CAH), which is characterized by impaired cortisol production and disrupted hormonal balance. Depending on the severity of the deficiency, CAH can result in various symptoms such as ambiguous genitalia, precocious puberty, sexual infantilism, infertility, and increased risk of adrenal crisis.

Hyperplasia is a medical term that refers to an abnormal increase in the number of cells in an organ or tissue, leading to an enlargement of the affected area. It's a response to various stimuli such as hormones, chronic irritation, or inflammation. Hyperplasia can be physiological, like the growth of breast tissue during pregnancy, or pathological, like in the case of benign or malignant tumors. The process is generally reversible if the stimulus is removed. It's important to note that hyperplasia itself is not cancerous, but some forms of hyperplasia can increase the risk of developing cancer over time.

The adrenal glands are a pair of endocrine glands that are located on top of the kidneys. Each gland has two parts: the outer cortex and the inner medulla. The adrenal cortex produces hormones such as cortisol, aldosterone, and androgens, which regulate metabolism, blood pressure, and other vital functions. The adrenal medulla produces catecholamines, including epinephrine (adrenaline) and norepinephrine (noradrenaline), which help the body respond to stress by increasing heart rate, blood pressure, and alertness.

17-α-Hydroxyprogesterone is a naturally occurring hormone produced by the adrenal glands and, in smaller amounts, by the ovaries and testes. It is an intermediate in the biosynthesis of steroid hormones, including cortisol, aldosterone, and sex hormones such as testosterone and estrogen.

In a medical context, 17-α-Hydroxyprogesterone may also refer to a synthetic form of this hormone that is used in the treatment of certain medical conditions. For example, a medication called 17-alpha-hydroxyprogesterone caproate (17-OHP) is used to reduce the risk of preterm birth in women who have previously given birth prematurely. It works by suppressing uterine contractions and promoting fetal lung maturity.

It's important to note that 17-alpha-Hydroxyprogesterone should only be used under the supervision of a healthcare provider, as it can have side effects and may interact with other medications.

Adrenal gland diseases refer to a group of medical conditions that affect the function or structure of the adrenal glands. The adrenal glands are small, triangular-shaped glands located on top of each kidney. They are responsible for producing several essential hormones, including cortisol, aldosterone, and adrenaline (epinephrine).

There are various types of adrenal gland diseases, some of which include:

1. Adrenal Insufficiency: A condition where the adrenal glands do not produce enough hormones, particularly cortisol and aldosterone. This can lead to symptoms such as fatigue, weight loss, low blood pressure, and skin hyperpigmentation.
2. Cushing's Syndrome: A condition characterized by an excess of cortisol in the body. It can be caused by a tumor in the pituitary gland or adrenal glands, or it can result from long-term use of steroid medications.
3. Adrenal Cancer: A rare type of cancer that affects the adrenal glands. Symptoms may include abdominal pain, weight loss, and high blood pressure.
4. Pheochromocytoma: A tumor that develops in the adrenal glands and causes an overproduction of adrenaline (epinephrine) and noradrenaline (norepinephrine). Symptoms may include high blood pressure, headaches, sweating, and anxiety.
5. Adrenal Hemorrhage: A condition where bleeding occurs in the adrenal glands, often as a result of severe trauma or infection. This can lead to adrenal insufficiency and other complications.
6. Congenital Adrenal Hyperplasia: An inherited disorder that affects the production of cortisol and other hormones in the adrenal glands. Symptoms may include ambiguous genitalia, precocious puberty, and short stature.

Treatment for adrenal gland diseases varies depending on the specific condition and its severity. Treatment options may include medication, surgery, or radiation therapy.

Adrenocortical hyperfunction, also known as Cushing's syndrome, is a condition characterized by the overproduction of cortisol hormone from the adrenal glands. The adrenal glands are located on top of the kidneys and are responsible for producing several essential hormones, including cortisol. Cortisol helps regulate metabolism, blood pressure, and the body's response to stress.

In Adrenocortical hyperfunction, the adrenal glands produce too much cortisol, leading to a range of symptoms such as weight gain, particularly around the trunk and face, thinning of the skin, easy bruising, muscle weakness, mood changes, and high blood pressure. The condition can be caused by several factors, including tumors in the pituitary gland or adrenal glands, long-term use of corticosteroid medications, or genetic disorders that affect the adrenal glands.

Treatment for Adrenocortical hyperfunction depends on the underlying cause of the condition and may include surgery to remove tumors, medication to reduce cortisol production, or radiation therapy. It is essential to diagnose and treat this condition promptly, as long-term exposure to high levels of cortisol can lead to serious health complications such as diabetes, osteoporosis, and heart disease.

Pregnanetriol is not a medication, but rather a metabolite of the hormone progesterone. It is a steroid compound that is produced in the body and can be detected in urine. Pregnanetriol is often used as a biomarker to help diagnose certain medical conditions related to steroid hormone metabolism, such as congenital adrenal hyperplasia (CAH). In these cases, abnormal levels of pregnanetriol in the urine can indicate an enzyme deficiency that affects the production or breakdown of steroid hormones.

Fludrocortisone is a synthetic corticosteroid hormone, specifically a mineralocorticoid. It is often used to treat conditions associated with low levels of corticosteroids, such as Addison's disease. It works by helping the body retain sodium and lose potassium, which helps to maintain fluid balance and blood pressure.

In medical terms, fludrocortisone is defined as a synthetic mineralocorticoid with glucocorticoid activity used in the treatment of adrenogenital syndrome and Addison's disease, and as an adjunct in the treatment of rheumatoid arthritis. It is also used to treat orthostatic hypotension by helping the body retain sodium and water, thereby increasing blood volume and blood pressure.

It is important to note that fludrocortisone can have significant side effects, particularly if used in high doses or for long periods of time. These can include fluid retention, high blood pressure, increased risk of infection, and slowed growth in children. As with any medication, it should be used under the close supervision of a healthcare provider.

Hydroxyprogesterone is a synthetic form of the natural hormone progesterone, which is produced by the body during pregnancy to support the growth and development of the fetus. Hydroxyprogesterone is used in medical treatments to help prevent preterm birth in certain high-risk pregnancies.

There are several different forms of hydroxyprogesterone that have been developed for use as medications, including:

1. Hydroxyprogesterone caproate (HPC): This is a synthetic form of progesterone that is given as an injection once a week to help prevent preterm birth in women who have previously given birth prematurely. It works by helping to thicken the lining of the uterus and prevent contractions.
2. 17-Hydroxyprogesterone: This is a natural hormone that is produced by the body during pregnancy, but it can also be synthesized in a laboratory for use as a medication. It has been studied for its potential to help prevent preterm birth, although it is not currently approved for this use by the U.S. Food and Drug Administration (FDA).
3. 21-Hydroxyprogesterone: This is another natural hormone that is produced by the body during pregnancy, but it can also be synthesized in a laboratory for use as a medication. It has been studied for its potential to help prevent preterm birth and for its ability to reduce the risk of certain complications in women with a history of premature birth.

It's important to note that hydroxyprogesterone should only be used under the supervision of a healthcare provider, as it can have side effects and may not be appropriate for all women. If you are pregnant or planning to become pregnant and have concerns about preterm birth, it's important to discuss your options with your healthcare provider.

The adrenal cortex is the outer portion of the adrenal gland, which is located on top of the kidneys. It plays a crucial role in producing hormones that are essential for various bodily functions. The adrenal cortex is divided into three zones:

1. Zona glomerulosa: This outermost zone produces mineralocorticoids, primarily aldosterone. Aldosterone helps regulate sodium and potassium balance and thus influences blood pressure by controlling the amount of fluid in the body.
2. Zona fasciculata: The middle layer is responsible for producing glucocorticoids, with cortisol being the most important one. Cortisol regulates metabolism, helps manage stress responses, and has anti-inflammatory properties. It also plays a role in blood sugar regulation and maintaining the body's response to injury and illness.
3. Zona reticularis: The innermost zone produces androgens, primarily dehydroepiandrosterone (DHEA) and its sulfate form (DHEAS). These androgens are weak compared to those produced by the gonads (ovaries or testes), but they can be converted into more potent androgens or estrogens in peripheral tissues.

Disorders related to the adrenal cortex can lead to hormonal imbalances, affecting various bodily functions. Examples include Addison's disease (insufficient adrenal cortical hormone production) and Cushing's syndrome (excessive glucocorticoid levels).

An Adrenal Rest Tumor is a rare, benign (non-cancerous) growth that occurs in the adrenal glands. These tumors are made up of cells called "adrenal rests," which are small clusters of adrenal tissue that can be found outside of the adrenal glands.

Adrenal rest tumors are typically asymptomatic and are often discovered incidentally during imaging studies performed for other medical reasons. However, in some cases, these tumors may produce hormones such as cortisol or aldosterone, leading to symptoms associated with hormonal imbalances, such as Cushing's syndrome or Conn's syndrome.

Treatment for adrenal rest tumors typically involves surgical removal of the tumor. In cases where the tumor is producing hormones, medication may be used to manage the hormonal imbalance before and after surgery. It is important to monitor patients with adrenal rest tumors for recurrence, as these tumors can grow back over time.

Adrenal gland neoplasms refer to abnormal growths or tumors in the adrenal glands. These glands are located on top of each kidney and are responsible for producing hormones that regulate various bodily functions such as metabolism, blood pressure, and stress response. Adrenal gland neoplasms can be benign (non-cancerous) or malignant (cancerous).

Benign adrenal tumors are called adenomas and are usually small and asymptomatic. However, some adenomas may produce excessive amounts of hormones, leading to symptoms such as high blood pressure, weight gain, and mood changes.

Malignant adrenal tumors are called adrenocortical carcinomas and are rare but aggressive cancers that can spread to other parts of the body. Symptoms of adrenocortical carcinoma may include abdominal pain, weight loss, and hormonal imbalances.

It is important to diagnose and treat adrenal gland neoplasms early to prevent complications and improve outcomes. Diagnostic tests may include imaging studies such as CT scans or MRIs, as well as hormone level testing and biopsy. Treatment options may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.

Virilism is a condition that results from excessive exposure to androgens (male hormones) such as testosterone. It can occur in both males and females, but it is more noticeable in women and children. In females, virilism can cause various masculinizing features like excess body hair, deepened voice, enlarged clitoris, and irregular menstrual cycles. In children, it can lead to premature puberty and growth abnormalities. Virilism is often caused by conditions that involve the adrenal glands or ovaries, including tumors, congenital adrenal hyperplasia, and certain medications.

Cushing syndrome is a hormonal disorder that occurs when your body is exposed to high levels of the hormone cortisol for a long time. This can happen due to various reasons such as taking high doses of corticosteroid medications or tumors that produce cortisol or adrenocorticotropic hormone (ACTH).

The symptoms of Cushing syndrome may include:

* Obesity, particularly around the trunk and upper body
* Thinning of the skin, easy bruising, and purple or red stretch marks on the abdomen, thighs, breasts, and arms
* Weakened bones, leading to fractures
* High blood pressure
* High blood sugar
* Mental changes such as depression, anxiety, and irritability
* Increased fatigue and weakness
* Menstrual irregularities in women
* Decreased fertility in men

Cushing syndrome can be diagnosed through various tests, including urine and blood tests to measure cortisol levels, saliva tests, and imaging tests to locate any tumors. Treatment depends on the cause of the condition but may include surgery, radiation therapy, chemotherapy, or adjusting medication dosages.

Adrenocorticotropic Hormone (ACTH) is a hormone produced and released by the anterior pituitary gland, a small endocrine gland located at the base of the brain. ACTH plays a crucial role in the regulation of the body's stress response and has significant effects on various physiological processes.

The primary function of ACTH is to stimulate the adrenal glands, which are triangular-shaped glands situated on top of the kidneys. The adrenal glands consist of two parts: the outer cortex and the inner medulla. ACTH specifically targets the adrenal cortex, where it binds to specific receptors and initiates a series of biochemical reactions leading to the production and release of steroid hormones, primarily cortisol (a glucocorticoid) and aldosterone (a mineralocorticoid).

Cortisol is involved in various metabolic processes, such as regulating blood sugar levels, modulating the immune response, and helping the body respond to stress. Aldosterone plays a vital role in maintaining electrolyte and fluid balance by promoting sodium reabsorption and potassium excretion in the kidneys.

ACTH release is controlled by the hypothalamus, another part of the brain, which produces corticotropin-releasing hormone (CRH). CRH stimulates the anterior pituitary gland to secrete ACTH, which in turn triggers cortisol production in the adrenal glands. This complex feedback system helps maintain homeostasis and ensures that appropriate amounts of cortisol are released in response to various physiological and psychological stressors.

Disorders related to ACTH can lead to hormonal imbalances, resulting in conditions such as Cushing's syndrome (excessive cortisol production) or Addison's disease (insufficient cortisol production). Proper diagnosis and management of these disorders typically involve assessing the function of the hypothalamic-pituitary-adrenal axis and addressing any underlying issues affecting ACTH secretion.

Adrenal insufficiency is a condition in which the adrenal glands do not produce adequate amounts of certain hormones, primarily cortisol and aldosterone. Cortisol helps regulate metabolism, respond to stress, and suppress inflammation, while aldosterone helps regulate sodium and potassium levels in the body to maintain blood pressure.

Primary adrenal insufficiency, also known as Addison's disease, occurs when there is damage to the adrenal glands themselves, often due to autoimmune disorders, infections, or certain medications. Secondary adrenal insufficiency occurs when the pituitary gland fails to produce enough adrenocorticotropic hormone (ACTH), which stimulates the adrenal glands to produce cortisol.

Symptoms of adrenal insufficiency may include fatigue, weakness, weight loss, decreased appetite, nausea, vomiting, diarrhea, abdominal pain, low blood pressure, dizziness, and darkening of the skin. Treatment typically involves replacing the missing hormones with medications taken orally or by injection.

Adrenal cortex neoplasms refer to abnormal growths (tumors) in the adrenal gland's outer layer, known as the adrenal cortex. These neoplasms can be benign or malignant (cancerous). Benign tumors are called adrenal adenomas, while cancerous tumors are called adrenocortical carcinomas.

Adrenal cortex neoplasms can produce various hormones, leading to different clinical presentations. For instance, they may cause Cushing's syndrome (characterized by excessive cortisol production), Conn's syndrome (caused by aldosterone excess), or virilization (due to androgen excess). Some tumors may not produce any hormones and are discovered incidentally during imaging studies for unrelated conditions.

The diagnosis of adrenal cortex neoplasms typically involves a combination of imaging techniques, such as CT or MRI scans, and hormonal assessments to determine if the tumor is functional or non-functional. In some cases, a biopsy may be necessary to confirm the diagnosis and differentiate between benign and malignant tumors. Treatment options depend on the type, size, location, and hormonal activity of the neoplasm and may include surgical excision, radiation therapy, chemotherapy, or a combination of these approaches.

The adrenal medulla is the inner part of the adrenal gland, which is located on top of the kidneys. It is responsible for producing and releasing hormones such as epinephrine (also known as adrenaline) and norepinephrine (also known as noradrenaline). These hormones play a crucial role in the body's "fight or flight" response, preparing the body for immediate action in response to stress.

Epinephrine increases heart rate, blood pressure, and respiratory rate, while also increasing blood flow to muscles and decreasing blood flow to the skin and digestive system. Norepinephrine has similar effects but is generally less potent than epinephrine. Together, these hormones help to prepare the body for physical activity and increase alertness and focus.

Disorders of the adrenal medulla can lead to a variety of symptoms, including high blood pressure, rapid heart rate, anxiety, and tremors. Some conditions that affect the adrenal medulla include pheochromocytoma, a tumor that causes excessive production of epinephrine and norepinephrine, and neuroblastoma, a cancerous tumor that arises from immature nerve cells in the adrenal gland.

I am not aware of a medical definition for "Cortodoxone." It is possible that this term is not recognized in the field of medicine as it does not appear to be a commonly used medication, treatment, or diagnostic tool. If you have any more information about where you encountered this term or its potential meaning, I would be happy to try and provide further clarification.

17-Ketosteroids are a group of steroid compounds that contain a ketone group at the 17th carbon position in their molecular structure. They are produced as metabolic byproducts of certain hormones, such as androgens and estrogens, in the human body.

The term "17-KS" or "17-ketosteroids" is often used to refer to a class of urinary steroid metabolites that can be measured in the urine to assess adrenal and gonadal function. The measurement of 17-KS is particularly useful in monitoring patients with certain endocrine disorders, such as congenital adrenal hyperplasia or adrenal tumors.

The two major 17-KS that are routinely measured in urine are androsterone and etiocholanolone, which are derived from the metabolism of testosterone and dehydroepiandrosterone (DHEA), respectively. Other 17-KS include tetrahydrocortisone, tetrahydrocortisol, and 5-androstene-3β,17β-diol.

It's worth noting that the measurement of 17-KS has largely been replaced by more specific tests, such as the measurement of individual steroid hormones or their metabolites using mass spectrometry-based methods.

Adrenal cortex diseases refer to a group of conditions that affect the adrenal glands, which are small glands located on top of the kidneys. The adrenal glands consist of two parts: the outer adrenal cortex and the inner medulla. The adrenal cortex is responsible for producing hormones such as cortisol, aldosterone, and androgens that regulate various bodily functions, including metabolism, blood pressure, and sexual development.

Diseases of the adrenal cortex can result from an overproduction or underproduction of these hormones. Some common adrenal cortex diseases include:

1. Addison's disease: a condition characterized by insufficient production of hormones by the adrenal glands, leading to symptoms such as fatigue, weight loss, low blood pressure, and darkening of the skin.
2. Cushing's syndrome: a condition caused by an excess of cortisol in the body, which can result from taking high doses of corticosteroid medications or from a tumor in the pituitary gland or adrenal glands. Symptoms include weight gain, particularly around the trunk and face, thinning of the skin, easy bruising, muscle weakness, and mood changes.
3. Congenital adrenal hyperplasia: a group of inherited disorders that affect the production of hormones by the adrenal glands. Depending on the specific type of congenital adrenal hyperplasia, symptoms can range from ambiguous genitalia in newborns to precocious puberty, short stature, and infertility in older children and adults.
4. Adrenal tumors: benign or cancerous growths that develop in the adrenal glands and can cause hormonal imbalances. Symptoms depend on the type of tumor and the hormones it produces.

Treatment for adrenal cortex diseases depends on the specific condition and its underlying cause. Treatment options may include medication, surgery, or radiation therapy.

Hydrocortisone is a synthetic glucocorticoid, which is a class of steroid hormones. It is identical to the naturally occurring cortisol, a hormone produced by the adrenal gland that helps regulate metabolism and helps your body respond to stress. Hydrocortisone has anti-inflammatory effects and is used to treat various inflammatory conditions such as allergies, skin disorders, and autoimmune diseases. It works by suppressing the immune system's response to reduce swelling, redness, itching, and other symptoms caused by inflammation.

Hydrocortisone is available in different forms, including oral tablets, topical creams, lotions, gels, and ointments, as well as injectable solutions. The specific use and dosage depend on the condition being treated and the individual patient's medical history and current health status.

As with any medication, hydrocortisone can have side effects, especially when used in high doses or for extended periods. Common side effects include increased appetite, weight gain, mood changes, insomnia, and skin thinning. Long-term use of hydrocortisone may also increase the risk of developing osteoporosis, diabetes, cataracts, and other health problems. Therefore, it is essential to follow your healthcare provider's instructions carefully when using this medication.

Adrenalectomy is a surgical procedure in which one or both adrenal glands are removed. The adrenal glands are small, triangular-shaped glands located on top of each kidney that produce hormones such as cortisol, aldosterone, and adrenaline (epinephrine).

There are several reasons why an adrenalectomy may be necessary. For example, the procedure may be performed to treat tumors or growths on the adrenal glands, such as pheochromocytomas, which can cause high blood pressure and other symptoms. Adrenalectomy may also be recommended for patients with Cushing's syndrome, a condition in which the body is exposed to too much cortisol, or for those with adrenal cancer.

During an adrenalectomy, the surgeon makes an incision in the abdomen or back and removes the affected gland or glands. In some cases, laparoscopic surgery may be used, which involves making several small incisions and using specialized instruments to remove the gland. After the procedure, patients may need to take hormone replacement therapy to compensate for the loss of adrenal gland function.

Mineralocorticoids are a class of steroid hormones that primarily regulate electrolyte and fluid balance in the body. The most important mineralocorticoid is aldosterone, which is produced by the adrenal gland in response to signals from the renin-angiotensin system. Aldosterone acts on the distal tubules and collecting ducts of the nephrons in the kidneys to increase the reabsorption of sodium ions (Na+) and water into the bloodstream, while promoting the excretion of potassium ions (K+) and hydrogen ions (H+) into the urine. This helps maintain blood pressure and volume, as well as ensuring a proper balance of electrolytes in the body. Other mineralocorticoids include cortisol and corticosterone, which have weak mineralocorticoid activity and play a more significant role as glucocorticoids, regulating metabolism and immune response.

Hirsutism is a medical condition characterized by excessive hair growth in women in areas where hair growth is typically androgen-dependent, such as the face, chest, lower abdomen, and inner thighs. This hair growth is often thick, dark, and coarse, resembling male-pattern hair growth. Hirsutism can be caused by various factors, including hormonal imbalances, certain medications, and genetic conditions. It's essential to consult a healthcare professional if you experience excessive or unwanted hair growth to determine the underlying cause and develop an appropriate treatment plan.

Steroid 11-beta-hydroxylase is a crucial enzyme involved in the steroidogenesis pathway, specifically in the synthesis of cortisol and aldosterone, which are vital hormones produced by the adrenal glands. This enzyme is encoded by the CYP11B1 gene in humans.

The enzyme's primary function is to catalyze the conversion of 11-deoxycortisol to cortisol and 11-deoxycorticosterone to aldosterone through the process of hydroxylation at the 11-beta position of the steroid molecule. Cortisol is a critical glucocorticoid hormone that helps regulate metabolism, immune response, and stress response, while aldosterone is a mineralocorticoid hormone responsible for maintaining electrolyte and fluid balance in the body.

Deficiencies or mutations in the CYP11B1 gene can lead to various disorders, such as congenital adrenal hyperplasia (CAH), which may result in impaired cortisol and aldosterone production, causing hormonal imbalances and associated symptoms.

'46, XY Disorders of Sex Development' (DSD) is a term used to describe conditions in which individuals are born with chromosomes, gonads, or genitals that do not fit typical definitions of male or female. In these cases, the individual has 46 chromosomes, including one X and one Y chromosome (46, XY), which would typically result in the development of male characteristics. However, for various reasons, the sexual differentiation process may be disrupted, leading to atypical development of the internal and/or external sex organs.

There are several possible causes of 46, XY DSD, including genetic mutations, hormonal imbalances, or anatomical abnormalities. These conditions can range from mild to severe in terms of their impact on physical health and sexual function, and they may also have psychological and social implications.

Examples of 46, XY DSD include complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and disorders of gonadal development such as Swyer syndrome. Treatment for 46, XY DSD may involve surgical intervention, hormone replacement therapy, and/or psychological support.

Hyperaldosteronism is a medical condition characterized by the overproduction of aldosterone, a hormone produced by the adrenal glands. Aldosterone helps regulate sodium and potassium balance and blood pressure by promoting sodium retention and potassium excretion in the kidneys.

There are two types of hyperaldosteronism: primary and secondary. Primary hyperaldosteronism is caused by an overproduction of aldosterone from an abnormality within the adrenal gland, such as a tumor (Conn's syndrome) or hyperplasia. Secondary hyperaldosteronism occurs when there is an excess production of renin, a hormone produced by the kidneys, which then stimulates the adrenal glands to produce more aldosterone. This can be caused by various conditions that affect kidney function, such as renal artery stenosis or heart failure.

Symptoms of hyperaldosteronism may include high blood pressure, low potassium levels (hypokalemia), muscle weakness, and frequent urination. Diagnosis typically involves measuring aldosterone and renin levels in the blood, as well as other tests to determine the underlying cause. Treatment depends on the type and cause of hyperaldosteronism but may include medications, surgery, or lifestyle changes.

Prostatic hyperplasia, also known as benign prostatic hyperplasia (BPH), is a noncancerous enlargement of the prostate gland. The prostate gland surrounds the urethra, the tube that carries urine and semen out of the body. When the prostate gland enlarges, it can squeeze or partially block the urethra, causing problems with urination, such as a weak stream, difficulty starting or stopping the flow, and more frequent urination, especially at night. Prostatic hyperplasia is a common condition as men age and does not necessarily lead to cancer. However, it can cause significant discomfort and decreased quality of life if left untreated. Treatment options include medications, minimally invasive procedures, and surgery.

17-alpha-Hydroxypregnenolone is a steroid hormone that is produced in the adrenal glands and, to a lesser extent, in the gonads (ovaries and testes). It is an intermediate in the biosynthesis of steroid hormones, including cortisol, aldosterone, and sex hormones such as testosterone and estrogen.

17-alpha-Hydroxypregnenolone is formed from pregnenolone through the action of the enzyme 17α-hydroxylase. It can then be converted to 17-hydroxyprogesterone, which is a precursor to both cortisol and androgens such as testosterone.

While 17-alpha-Hydroxypregnenolone itself does not have significant physiological activity, its role in the biosynthesis of other steroid hormones makes it an important intermediate in the endocrine system. Dysregulation of its production or metabolism can contribute to various medical conditions, such as congenital adrenal hyperplasia and certain forms of cancer.

Endometrial hyperplasia is a condition in which the lining of the uterus (endometrium) becomes thickened due to an overgrowth of cells. This occurs as a result of excessive estrogen stimulation without adequate progesterone to balance it. The thickening of the endometrium can range from mild to severe, and in some cases, it may lead to the development of abnormal or precancerous cells.

There are different types of endometrial hyperplasia, including simple hyperplasia, complex hyperplasia, and atypical hyperplasia. Simple hyperplasia has an increased number of glands but no significant architectural distortion, while complex hyperplasia shows crowded glands with architectural complexity. Atypical hyperplasia is a more serious condition characterized by the presence of abnormal cells, which can increase the risk of developing endometrial cancer if left untreated.

The primary symptoms of endometrial hyperplasia include irregular menstrual periods, heavy or prolonged bleeding, and postmenopausal bleeding. The diagnosis typically involves a transvaginal ultrasound and an endometrial biopsy to evaluate the tissue sample for cell changes. Treatment options depend on the type and severity of hyperplasia, as well as the patient's age and overall health. Hormonal therapy, progestin-based medications, or a hysterectomy (surgical removal of the uterus) may be recommended to manage this condition.

An adrenocortical adenoma is a benign tumor that arises from the cells of the adrenal cortex, which is the outer layer of the adrenal gland. These tumors can produce and release various hormones, such as cortisol, aldosterone, or androgens, depending on the type of cells they originate from.

Most adrenocortical adenomas are nonfunctioning, meaning that they do not secrete excess hormones and may not cause any symptoms. However, some functioning adenomas can produce excessive amounts of hormones, leading to a variety of clinical manifestations. For example:

* Cortisol-secreting adenomas can result in Cushing's syndrome, characterized by weight gain, muscle wasting, thin skin, easy bruising, and mood changes.
* Aldosterone-producing adenomas can cause Conn's syndrome, marked by hypertension (high blood pressure), hypokalemia (low potassium levels), and metabolic alkalosis.
* Androgen-secreting adenomas may lead to hirsutism (excessive hair growth) or virilization (development of male secondary sexual characteristics) in women.

The diagnosis of an adrenocortical adenoma typically involves imaging tests, such as CT or MRI scans, and hormonal evaluations to determine if the tumor is functioning or not. Treatment usually consists of surgical removal of the tumor, especially if it is causing hormonal imbalances or growing in size.

Antley-Bixler syndrome phenotype is a medical term used to describe a set of physical features that are characteristic of Antley-Bixler syndrome, a rare genetic disorder. The syndrome is caused by mutations in the genes that provide instructions for making proteins involved in the development of bones and other tissues in the body.

The Antley-Bixler syndrome phenotype typically includes:

1. Craniosynostosis: This is a condition where the bones in the skull fuse together prematurely, leading to an abnormally shaped head.
2. Abnormalities of the face and skull: These may include a prominent forehead, wide-set eyes, a beaked nose, and low-set ears.
3. Bone abnormalities: These may include bowed or bent limbs, fusion of bones in the hands and feet, and other skeletal malformations.
4. Respiratory problems: Some individuals with Antley-Bixler syndrome may have narrow airways, which can lead to breathing difficulties.
5. Genital abnormalities: In some cases, males with Antley-Bixler syndrome may have undescended testicles.

It is important to note that not all individuals with Antley-Bixler syndrome will have all of these features, and the severity of the condition can vary widely from person to person. If you suspect that your child may have Antley-Bixler syndrome, it is important to consult with a medical professional for further evaluation and diagnosis.

Cosyntropin is a synthetic form of adrenocorticotropic hormone (ACTH) that is used in medical testing to assess the function of the adrenal glands. ACTH is a hormone produced and released by the pituitary gland that stimulates the production and release of cortisol, a steroid hormone produced by the adrenal glands.

Cosyntropin is typically administered as an injection, and its effects on cortisol production are measured through blood tests taken at various time points after administration. This test, known as a cosyntropin stimulation test or ACTH stimulation test, can help diagnose conditions that affect the adrenal glands, such as Addison's disease or adrenal insufficiency.

It is important to note that while cosyntropin is a synthetic form of ACTH, it is not identical to the natural hormone and may have slightly different effects on the body. Therefore, it should only be used under the supervision of a healthcare professional.

Age determination by skeleton, also known as skeletal aging or skeletal maturation, is the process of estimating a person's age based on the analysis of their skeletal remains. This technique is commonly used in forensic anthropology to help identify unknown individuals or determine the time since death.

The method involves examining various features of the skeleton, such as the degree of fusion of epiphyseal growth plates, the shape and size of certain bones, and the presence or absence of degenerative changes. These features change in a predictable way as a person grows and develops, allowing for an estimation of their age at death.

It is important to note that while skeletal aging can provide useful information, it is not always possible to determine an exact age. Instead, forensic anthropologists typically provide a range of ages that the individual may have fallen into based on the skeletal evidence. Additionally, factors such as genetics, nutrition, and health can affect the rate at which skeletal features develop, making it difficult to provide a precise estimate in some cases.

Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).

Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.

The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.

Neonatal screening is a medical procedure in which specific tests are performed on newborn babies within the first few days of life to detect certain congenital or inherited disorders that are not otherwise clinically apparent at birth. These conditions, if left untreated, can lead to serious health problems, developmental delays, or even death.

The primary goal of neonatal screening is to identify affected infants early so that appropriate treatment and management can be initiated as soon as possible, thereby improving their overall prognosis and quality of life. Commonly screened conditions include phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease, sickle cell disease, cystic fibrosis, and hearing loss, among others.

Neonatal screening typically involves collecting a small blood sample from the infant's heel (heel stick) or through a dried blood spot card, which is then analyzed using various biochemical, enzymatic, or genetic tests. In some cases, additional tests such as hearing screenings and pulse oximetry for critical congenital heart disease may also be performed.

It's important to note that neonatal screening is not a diagnostic tool but rather an initial step in identifying infants who may be at risk of certain conditions. Positive screening results should always be confirmed with additional diagnostic tests before any treatment decisions are made.

Glucocorticoids are a class of steroid hormones that are naturally produced in the adrenal gland, or can be synthetically manufactured. They play an essential role in the metabolism of carbohydrates, proteins, and fats, and have significant anti-inflammatory effects. Glucocorticoids suppress immune responses and inflammation by inhibiting the release of inflammatory mediators from various cells, such as mast cells, eosinophils, and lymphocytes. They are frequently used in medical treatment for a wide range of conditions, including allergies, asthma, rheumatoid arthritis, dermatological disorders, and certain cancers. Prolonged use or high doses of glucocorticoids can lead to several side effects, such as weight gain, mood changes, osteoporosis, and increased susceptibility to infections.

Disorders of Sex Development (DSD) are a group of conditions that occur when there is a difference in the development and assignment of sex characteristics. These differences may be apparent at birth, at puberty, or later in life. DSD can affect chromosomes, gonads, genitals, or secondary sexual characteristics, and can result from genetic mutations or environmental factors during fetal development.

DSDs were previously referred to as "intersex" conditions, but the term "Disorders of Sex Development" is now preferred in medical settings because it is more descriptive and less stigmatizing. DSDs are not errors or abnormalities, but rather variations in human development that require sensitive and individualized care.

The diagnosis and management of DSD can be complex and may involve a team of healthcare providers, including endocrinologists, urologists, gynecologists, psychologists, and genetic counselors. Treatment options depend on the specific type of DSD and may include hormone therapy, surgery, or other interventions to support physical and emotional well-being.

Androstenedione is a steroid hormone produced by the adrenal glands, ovaries, and testes. It is a precursor to both male and female sex hormones, including testosterone and estrogen. In the adrenal glands, it is produced from cholesterol through a series of biochemical reactions involving several enzymes. Androstenedione can also be converted into other steroid hormones, such as dehydroepiandrosterone (DHEA) and estrone.

In the body, androstenedione plays an important role in the development and maintenance of secondary sexual characteristics, such as facial hair and a deep voice in men, and breast development and menstrual cycles in women. It also contributes to bone density, muscle mass, and overall physical strength.

Androstenedione is available as a dietary supplement and has been marketed as a way to boost athletic performance and increase muscle mass. However, its effectiveness for these purposes is not supported by scientific evidence, and it may have harmful side effects when taken in high doses or for extended periods of time. Additionally, the use of androstenedione as a dietary supplement is banned by many sports organizations, including the International Olympic Committee and the National Collegiate Athletic Association.

Aldosterone is a hormone produced by the adrenal gland. It plays a key role in regulating sodium and potassium balance and maintaining blood pressure through its effects on the kidneys. Aldosterone promotes the reabsorption of sodium ions and the excretion of potassium ions in the distal tubules and collecting ducts of the nephrons in the kidneys. This increases the osmotic pressure in the blood, which in turn leads to water retention and an increase in blood volume and blood pressure.

Aldosterone is released from the adrenal gland in response to a variety of stimuli, including angiotensin II (a peptide hormone produced as part of the renin-angiotensin-aldosterone system), potassium ions, and adrenocorticotropic hormone (ACTH) from the pituitary gland. The production of aldosterone is regulated by a negative feedback mechanism involving sodium levels in the blood. High sodium levels inhibit the release of aldosterone, while low sodium levels stimulate its release.

In addition to its role in maintaining fluid and electrolyte balance and blood pressure, aldosterone has been implicated in various pathological conditions, including hypertension, heart failure, and primary hyperaldosteronism (a condition characterized by excessive production of aldosterone).

Precocious puberty is a medical condition where the onset of sexual maturation occurs at an unusually early age, typically before the age of 8 in girls and before the age of 9 in boys. It is characterized by the development of secondary sexual characteristics such as breast development or growth of facial hair, as well as the start of menstruation in girls. This condition can be caused by various factors including central nervous system abnormalities, genetic disorders, or exposure to certain hormones. Early diagnosis and treatment are important to prevent potential negative effects on growth, bone health, and psychosocial development.

Sexual infantilism, also known as paraphilic infantilism or autonepiophilia, is a psychological condition where an individual has a persistent and intense sexual interest in role-playing as a baby or small child, often involving the use of diapers, clothing, and other props. This behavior is considered a paraphilia when it interferes with normal social functioning or causes distress to the individual or others. It's important to note that this behavior does not involve sexual contact with children, but rather derives sexual pleasure from acting like one.

It's worth mentioning that this condition is still not well understood and more research is needed to fully grasp its prevalence, causes, and treatment options. As always, if you or someone else is struggling with any kind of sexual disorder or distress, it's recommended to seek help from a mental health professional or medical doctor who specializes in sexual disorders.

An adenoma is a benign (noncancerous) tumor that develops from glandular epithelial cells. These types of cells are responsible for producing and releasing fluids, such as hormones or digestive enzymes, into the surrounding tissues. Adenomas can occur in various organs and glands throughout the body, including the thyroid, pituitary, adrenal, and digestive systems.

Depending on their location, adenomas may cause different symptoms or remain asymptomatic. Some common examples of adenomas include:

1. Colorectal adenoma (also known as a polyp): These growths occur in the lining of the colon or rectum and can develop into colorectal cancer if left untreated. Regular screenings, such as colonoscopies, are essential for early detection and removal of these polyps.
2. Thyroid adenoma: This type of adenoma affects the thyroid gland and may result in an overproduction or underproduction of hormones, leading to conditions like hyperthyroidism (overactive thyroid) or hypothyroidism (underactive thyroid).
3. Pituitary adenoma: These growths occur in the pituitary gland, which is located at the base of the brain and controls various hormonal functions. Depending on their size and location, pituitary adenomas can cause vision problems, headaches, or hormonal imbalances that affect growth, reproduction, and metabolism.
4. Liver adenoma: These rare benign tumors develop in the liver and may not cause any symptoms unless they become large enough to press on surrounding organs or structures. In some cases, liver adenomas can rupture and cause internal bleeding.
5. Adrenal adenoma: These growths occur in the adrenal glands, which are located above the kidneys and produce hormones that regulate stress responses, metabolism, and blood pressure. Most adrenal adenomas are nonfunctioning, meaning they do not secrete excess hormones. However, functioning adrenal adenomas can lead to conditions like Cushing's syndrome or Conn's syndrome, depending on the type of hormone being overproduced.

It is essential to monitor and manage benign tumors like adenomas to prevent potential complications, such as rupture, bleeding, or hormonal imbalances. Treatment options may include surveillance with imaging studies, medication to manage hormonal issues, or surgical removal of the tumor in certain cases.

Steroid hydroxylases are enzymes that catalyze the addition of a hydroxyl group (-OH) to a steroid molecule. These enzymes are located in the endoplasmic reticulum and play a crucial role in the biosynthesis of various steroid hormones, such as cortisol, aldosterone, and sex hormones. The hydroxylation reaction catalyzed by these enzymes increases the polarity and solubility of steroids, allowing them to be further metabolized and excreted from the body.

The most well-known steroid hydroxylases are part of the cytochrome P450 family, specifically CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, and CYP21A2. Each enzyme has a specific function in steroid biosynthesis, such as converting cholesterol to pregnenolone (CYP11A1), hydroxylating the 11-beta position of steroids (CYP11B1 and CYP11B2), or performing multiple hydroxylation reactions in the synthesis of sex hormones (CYP17A1, CYP19A1, and CYP21A2).

Defects in these enzymes can lead to various genetic disorders, such as congenital adrenal hyperplasia, which is characterized by impaired steroid hormone biosynthesis.

Reproductive physiological phenomena refer to the various functional processes and changes that occur in the reproductive system, enabling the production, development, and reproduction of offspring in living organisms. These phenomena encompass a wide range of events, including:

1. Hormonal regulation: The release and circulation of hormones that control and coordinate reproductive functions, such as follicle-stimulating hormone (FSH), luteinizing hormone (LH), estrogen, progesterone, testosterone, and inhibin.
2. Ovarian and testicular function: The development and maturation of ova (eggs) in females and sperm in males, including folliculogenesis, ovulation, spermatogenesis, and the maintenance of secondary sexual characteristics.
3. Menstrual cycle: The series of events that occur in the female reproductive system over a 28-day period, consisting of the follicular phase, ovulation, and luteal phase, resulting in the shedding of the uterine lining if fertilization does not occur.
4. Fertilization: The process by which a sperm penetrates and fuses with an egg to form a zygote, initiating embryonic development.
5. Implantation: The attachment and embedding of the developing blastocyst (early-stage embryo) into the uterine lining, leading to pregnancy.
6. Pregnancy: The physiological state of carrying a developing offspring within the female reproductive system, characterized by hormonal changes, growth and development of the fetus, and preparation for childbirth.
7. Lactation: The production and secretion of milk from the mammary glands to provide nutrition for newborn offspring.
8. Menopause: The permanent cessation of menstrual cycles and reproductive function in females, typically occurring in the fourth or fifth decade of life, characterized by a decline in hormone production and various physical and emotional symptoms.

These reproductive physiological phenomena are complex and highly regulated processes that ensure the continuation of species and the maintenance of genetic diversity.

Androgens are a class of hormones that are primarily responsible for the development and maintenance of male sexual characteristics and reproductive function. Testosterone is the most well-known androgen, but other androgens include dehydroepiandrosterone (DHEA), androstenedione, and dihydrotestosterone (DHT).

Androgens are produced primarily by the testes in men and the ovaries in women, although small amounts are also produced by the adrenal glands in both sexes. They play a critical role in the development of male secondary sexual characteristics during puberty, such as the growth of facial hair, deepening of the voice, and increased muscle mass.

In addition to their role in sexual development and function, androgens also have important effects on bone density, mood, and cognitive function. Abnormal levels of androgens can contribute to a variety of medical conditions, including infertility, erectile dysfunction, acne, hirsutism (excessive hair growth), and prostate cancer.

Dexamethasone is a type of corticosteroid medication, which is a synthetic version of a natural hormone produced by the adrenal glands. It is often used to reduce inflammation and suppress the immune system in a variety of medical conditions, including allergies, asthma, rheumatoid arthritis, and certain skin conditions.

Dexamethasone works by binding to specific receptors in cells, which triggers a range of anti-inflammatory effects. These include reducing the production of chemicals that cause inflammation, suppressing the activity of immune cells, and stabilizing cell membranes.

In addition to its anti-inflammatory effects, dexamethasone can also be used to treat other medical conditions, such as certain types of cancer, brain swelling, and adrenal insufficiency. It is available in a variety of forms, including tablets, liquids, creams, and injectable solutions.

Like all medications, dexamethasone can have side effects, particularly if used for long periods of time or at high doses. These may include mood changes, increased appetite, weight gain, acne, thinning skin, easy bruising, and an increased risk of infections. It is important to follow the instructions of a healthcare provider when taking dexamethasone to minimize the risk of side effects.

Gonadal dysgenesis, 46,XY is a medical condition where the gonads (testes) fail to develop or function properly in an individual with a 46,XY karyotype (a normal male chromosomal composition). This means that the person has one X and one Y chromosome, but their gonads do not develop into fully functional testes. As a result, the person may have ambiguous genitalia or female external genitalia, and they will typically not produce enough or any male hormones. The condition can also be associated with an increased risk of developing germ cell tumors in the dysgenetic gonads.

The severity of gonadal dysgenesis, 46,XY can vary widely, and it may be accompanied by other developmental abnormalities or syndromes. Treatment typically involves surgical removal of the dysgenetic gonads to reduce the risk of tumor development, as well as hormone replacement therapy to support normal sexual development and reproductive function. The underlying cause of gonadal dysgenesis, 46,XY is not always known, but it can be associated with genetic mutations or chromosomal abnormalities.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Dehydroepiandrosterone (DHEA) is a steroid hormone produced by the adrenal glands. It serves as a precursor to other hormones, including androgens such as testosterone and estrogens such as estradiol. DHEA levels typically peak during early adulthood and then gradually decline with age.

DHEA has been studied for its potential effects on various health conditions, including aging, cognitive function, sexual dysfunction, and certain chronic diseases. However, the evidence supporting its use for these purposes is generally limited and inconclusive. As with any supplement or medication, it's important to consult with a healthcare provider before taking DHEA to ensure safety and effectiveness.

Hypokalemia is a medical condition characterized by abnormally low potassium levels in the blood, specifically when the concentration falls below 3.5 milliequivalents per liter (mEq/L). Potassium is an essential electrolyte that helps regulate heart function, nerve signals, and muscle contractions.

Hypokalemia can result from various factors, including inadequate potassium intake, increased potassium loss through the urine or gastrointestinal tract, or shifts of potassium between body compartments. Common causes include diuretic use, vomiting, diarrhea, certain medications, kidney diseases, and hormonal imbalances.

Mild hypokalemia may not cause noticeable symptoms but can still affect the proper functioning of muscles and nerves. More severe cases can lead to muscle weakness, fatigue, cramps, paralysis, heart rhythm abnormalities, and in rare instances, respiratory failure or cardiac arrest. Treatment typically involves addressing the underlying cause and replenishing potassium levels through oral or intravenous (IV) supplementation, depending on the severity of the condition.

The adrenal cortex hormones are a group of steroid hormones produced and released by the outer portion (cortex) of the adrenal glands, which are located on top of each kidney. These hormones play crucial roles in regulating various physiological processes, including:

1. Glucose metabolism: Cortisol helps control blood sugar levels by increasing glucose production in the liver and reducing its uptake in peripheral tissues.
2. Protein and fat metabolism: Cortisol promotes protein breakdown and fatty acid mobilization, providing essential building blocks for energy production during stressful situations.
3. Immune response regulation: Cortisol suppresses immune function to prevent overactivation and potential damage to the body during stress.
4. Cardiovascular function: Aldosterone regulates electrolyte balance and blood pressure by promoting sodium reabsorption and potassium excretion in the kidneys.
5. Sex hormone production: The adrenal cortex produces small amounts of sex hormones, such as androgens and estrogens, which contribute to sexual development and function.
6. Growth and development: Cortisol plays a role in normal growth and development by influencing the activity of growth-promoting hormones like insulin-like growth factor 1 (IGF-1).

The main adrenal cortex hormones include:

1. Glucocorticoids: Cortisol is the primary glucocorticoid, responsible for regulating metabolism and stress response.
2. Mineralocorticoids: Aldosterone is the primary mineralocorticoid, involved in electrolyte balance and blood pressure regulation.
3. Androgens: Dehydroepiandrosterone (DHEA) and its sulfate derivative (DHEAS) are the most abundant adrenal androgens, contributing to sexual development and function.
4. Estrogens: Small amounts of estrogens are produced by the adrenal cortex, mainly in women.

Disorders related to impaired adrenal cortex hormone production or regulation can lead to various clinical manifestations, such as Addison's disease (adrenal insufficiency), Cushing's syndrome (hypercortisolism), and congenital adrenal hyperplasia (CAH).

Gingival hyperplasia is a condition characterized by an abnormal growth or enlargement of the gingiva (gum tissue). This condition can be caused by various factors, including bacterial infection, certain medications (such as phenytoin, cyclosporine, and nifedipine), systemic diseases (such as leukemia, vitamin C deficiency, and Crohn's disease), and genetic disorders.

The enlarged gum tissue can be uncomfortable, irritated, and prone to bleeding, especially during brushing or flossing. It may also make it difficult to maintain good oral hygiene, which can increase the risk of dental caries and periodontal disease. Treatment for gingival hyperplasia typically involves improving oral hygiene, controlling any underlying causes, and in some cases, surgical removal of the excess tissue.

Puberty is the period of sexual maturation, generally occurring between the ages of 10 and 16 in females and between 12 and 18 in males. It is characterized by a series of events including rapid growth, development of secondary sexual characteristics, and the acquisition of reproductive capabilities. Puberty is initiated by the activation of the hypothalamic-pituitary-gonadal axis, leading to the secretion of hormones such as estrogen and testosterone that drive the physical changes associated with this stage of development.

In females, puberty typically begins with the onset of breast development (thelarche) and the appearance of pubic hair (pubarche), followed by the start of menstruation (menarche). In males, puberty usually starts with an increase in testicular size and the growth of pubic hair, followed by the deepening of the voice, growth of facial hair, and the development of muscle mass.

It's important to note that the onset and progression of puberty can vary widely among individuals, and may be influenced by genetic, environmental, and lifestyle factors.

Thymus hyperplasia is a condition where the thymus gland, which is a part of the immune system located in the upper chest beneath the breastbone, becomes enlarged due to an increase in the number of cells. This is different from a tumor, where there is an abnormal growth of cells that can be benign or cancerous.

Thymus hyperplasia can be classified into two types: true hyperplasia and lymphoid hyperplasia. True hyperplasia refers to an increase in the number of thymic epithelial cells, while lymphoid hyperplasia is an increase in the number of lymphocytes (a type of white blood cell) within the thymus gland.

Thymus hyperplasia can occur as a result of various factors, including autoimmune diseases, infections, and certain medications. In some cases, it may not cause any symptoms and may be discovered incidentally during imaging studies or other medical tests. However, in other cases, it may cause symptoms such as cough, chest pain, difficulty breathing, and swallowing.

Treatment for thymus hyperplasia depends on the underlying cause and severity of symptoms. In some cases, no treatment may be necessary, while in others, medications or surgery may be required.

Steroids, also known as corticosteroids, are a type of hormone that the adrenal gland produces in your body. They have many functions, such as controlling the balance of salt and water in your body and helping to reduce inflammation. Steroids can also be synthetically produced and used as medications to treat a variety of conditions, including allergies, asthma, skin conditions, and autoimmune disorders.

Steroid medications are available in various forms, such as oral pills, injections, creams, and inhalers. They work by mimicking the effects of natural hormones produced by your body, reducing inflammation and suppressing the immune system's response to prevent or reduce symptoms. However, long-term use of steroids can have significant side effects, including weight gain, high blood pressure, osteoporosis, and increased risk of infections.

It is important to note that anabolic steroids are a different class of drugs that are sometimes abused for their muscle-building properties. These steroids are synthetic versions of the male hormone testosterone and can have serious health consequences when taken in large doses or without medical supervision.

Focal nodular hyperplasia (FNH) is a benign liver mass, which means it's a non-cancerous growth. It is characterized by the presence of multiple nodules or "lesions" in the liver that are well-circumscribed and have a distinctive "stars in the sky" appearance on histopathology. These lesions are composed of abnormal arrangements of liver cells, bile ducts, and blood vessels. FNH is usually discovered incidentally during imaging studies performed for unrelated reasons. It's more common in women than men, and while its cause remains unclear, it has been linked to hormonal factors. Most cases do not require treatment unless they become symptomatic or complications arise.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

A postmature infant is a newborn who is delivered at or after 42 weeks (294 days) of gestation. These infants are also known as "post-term" or "post-dates." At this stage, the placenta may not function optimally, leading to potential issues such as decreased fetal movement, meconium staining of amniotic fluid, and low birth weight. Postmature infants may require close monitoring and evaluation after delivery to ensure their well-being.

Genitalia, also known as the genitals, refer to the reproductive organs located in the pelvic region. In males, these include the penis and testicles, while in females, they consist of the vulva, vagina, clitoris, and ovaries. Genitalia are essential for sexual reproduction and can also be associated with various medical conditions, such as infections, injuries, or congenital abnormalities.

Testosterone is a steroid hormone that belongs to androsten class of hormones. It is primarily secreted by the Leydig cells in the testes of males and, to a lesser extent, by the ovaries and adrenal glands in females. Testosterone is the main male sex hormone and anabolic steroid. It plays a key role in the development of masculine characteristics, such as body hair and muscle mass, and contributes to bone density, fat distribution, red cell production, and sex drive. In females, testosterone contributes to sexual desire and bone health. Testosterone is synthesized from cholesterol and its production is regulated by luteinizing hormone (LH) and follicle-stimulating hormone (FSH).

Obstetric surgical procedures are operations that are performed on the female reproductive system during pregnancy, labor, delivery, or after childbirth to address various medical conditions and complications. Some common obstetric surgical procedures include:

1. Cesarean section (C-section): A surgical delivery of a baby through incisions in the abdomen and uterus.
2. Induction of labor: The use of medication or other methods to stimulate labor.
3. Dilation and curettage (D&C): A procedure to remove tissue from the uterus using a thin, sharp instrument called a curette.
4. Hysterectomy: The surgical removal of the uterus.
5. Myomectomy: The surgical removal of fibroids, which are noncancerous growths in the muscular wall of the uterus.
6. Ovarian cystectomy: The surgical removal of a cyst from the ovary.
7. Tubal ligation: A permanent form of birth control in which the fallopian tubes are tied, cut, or sealed to prevent pregnancy.
8. Ectopic pregnancy surgery: Removal of an ectopic pregnancy, which is a pregnancy that develops outside of the uterus, usually in the fallopian tube.

These procedures may be necessary to save the life of the mother or baby, to treat medical conditions, or to prevent future complications. They should only be performed by trained medical professionals in a hospital setting.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Urogenital abnormalities refer to structural or functional anomalies that affect the urinary and genital systems. These two systems are closely linked during embryonic development, and sometimes they may not develop properly, leading to various types of congenital defects. Urogenital abnormalities can range from minor issues like a bifid scrotum (a condition where the scrotum is split into two parts) to more severe problems such as bladder exstrophy (where the bladder develops outside the body).

These conditions may affect urination, reproduction, and sexual function. They can also increase the risk of infections and other complications. Urogenital abnormalities can be diagnosed through physical examination, imaging tests, or genetic testing. Treatment options depend on the specific condition but may include surgery, medication, or lifestyle changes.

Paraneoplastic endocrine syndromes refer to a group of hormonal and related disorders that occur as remote effects of cancer. They are caused by substances (like hormones, peptides, or antibodies) produced by the tumor, which may be benign or malignant, and can affect various organs and systems in the body. These syndromes can occur before the cancer is diagnosed, making them an important consideration for early detection and treatment of the underlying malignancy.

Examples of paraneoplastic endocrine syndromes include:

1. Syndrome of Inappropriate Antidiuretic Hormone (SIADH): This occurs when a tumor, often small cell lung cancer, produces antidiuretic hormone (ADH), leading to excessive water retention and low sodium levels in the blood.
2. Cushing's Syndrome: Excessive production of adrenocorticotropic hormone (ACTH) by a tumor, often a small cell lung cancer or pancreatic neuroendocrine tumor, can lead to increased cortisol levels and symptoms such as weight gain, muscle weakness, and mood changes.
3. Ectopic Production of Parathyroid Hormone-Related Peptide (PTHrP): This occurs when a tumor, often a squamous cell carcinoma, produces PTHrP, leading to increased calcium levels in the blood and symptoms such as bone pain, kidney stones, and confusion.
4. Hypercalcemia of Malignancy: Excessive production of calcitriol (active vitamin D) by a tumor, often a lymphoma or myeloma, can lead to increased calcium levels in the blood and symptoms such as bone pain, kidney stones, and confusion.
5. Carcinoid Syndrome: This occurs when a neuroendocrine tumor, often in the gastrointestinal tract, produces serotonin and other substances, leading to symptoms such as flushing, diarrhea, and heart problems.

It is important to note that these syndromes can also be caused by non-cancerous conditions, so a thorough evaluation is necessary to make an accurate diagnosis.

The Cholesterol Side-Chain Cleavage Enzyme, also known as Steroidogenic Acute Regulatory (StAR) protein or P450scc, is a complex enzymatic system that plays a crucial role in the production of steroid hormones. It is located in the inner mitochondrial membrane of steroid-producing cells, such as those found in the adrenal glands, gonads, and placenta.

The Cholesterol Side-Chain Cleavage Enzyme is responsible for converting cholesterol into pregnenolone, which is the first step in the biosynthesis of all steroid hormones, including cortisol, aldosterone, sex hormones, and vitamin D. This enzymatic complex consists of two components: a flavoprotein called NADPH-cytochrome P450 oxidoreductase, which provides electrons for the reaction, and a cytochrome P450 protein called CYP11A1, which catalyzes the actual cleavage of the cholesterol side chain.

Defects in the Cholesterol Side-Chain Cleavage Enzyme can lead to various genetic disorders, such as congenital lipoid adrenal hyperplasia (CLAH), a rare autosomal recessive disorder characterized by impaired steroidogenesis and accumulation of cholesteryl esters in the adrenal glands and gonads.

3-Hydroxysteroid dehydrogenases (3-HSDs) are a group of enzymes that play a crucial role in steroid hormone biosynthesis. These enzymes catalyze the conversion of 3-beta-hydroxy steroids to 3-keto steroids, which is an essential step in the production of various steroid hormones, including progesterone, cortisol, aldosterone, and sex hormones such as testosterone and estradiol.

There are several isoforms of 3-HSDs that are expressed in different tissues and have distinct substrate specificities. For instance, 3-HSD type I is primarily found in the ovary and adrenal gland, where it catalyzes the conversion of pregnenolone to progesterone and 17-hydroxyprogesterone to 17-hydroxycortisol. On the other hand, 3-HSD type II is mainly expressed in the testes, adrenal gland, and placenta, where it catalyzes the conversion of dehydroepiandrosterone (DHEA) to androstenedione and androstenedione to testosterone.

Defects in 3-HSDs can lead to various genetic disorders that affect steroid hormone production and metabolism, resulting in a range of clinical manifestations such as adrenal insufficiency, ambiguous genitalia, and sexual development disorders.

Gastrointestinal (GI) hormone receptors are specialized protein structures found on the surface of cells in the gastrointestinal tract. These receptors recognize and respond to specific hormones that are released by enteroendocrine cells in the GI tract. Examples of GI hormones include gastrin, secretin, cholecystokinin (CCK), motilin, and ghrelin.

When a GI hormone binds to its specific receptor, it triggers a series of intracellular signaling events that ultimately lead to changes in cell function. These changes can include increased or decreased secretion of digestive enzymes, altered motility (movement) of the GI tract, and regulation of appetite and satiety.

Abnormalities in GI hormone receptors have been implicated in a variety of gastrointestinal disorders, including functional dyspepsia, irritable bowel syndrome, and obesity. Therefore, understanding the role of these receptors in GI physiology and pathophysiology is an important area of research.

Vasopressin receptors are a type of G protein-coupled receptor that bind to and are activated by the hormone vasopressin (also known as antidiuretic hormone or ADH). There are two main types of vasopressin receptors, V1 and V2.

V1 receptors are found in various tissues throughout the body, including vascular smooth muscle, heart, liver, and kidney. Activation of V1 receptors leads to vasoconstriction (constriction of blood vessels), increased heart rate and force of heart contractions, and release of glycogen from the liver.

V2 receptors are primarily found in the kidney's collecting ducts. When activated, they increase water permeability in the collecting ducts, allowing for the reabsorption of water into the bloodstream and reducing urine production. This helps to regulate fluid balance and maintain normal blood pressure.

Abnormalities in vasopressin receptor function can contribute to various medical conditions, including hypertension, heart failure, and kidney disease.

Renin is a medically recognized term and it is defined as:

"A protein (enzyme) that is produced and released by specialized cells (juxtaglomerular cells) in the kidney. Renin is a key component of the renin-angiotensin-aldosterone system (RAAS), which helps regulate blood pressure and fluid balance in the body.

When the kidney detects a decrease in blood pressure or a reduction in sodium levels, it releases renin into the bloodstream. Renin then acts on a protein called angiotensinogen, converting it to angiotensin I. Angiotensin-converting enzyme (ACE) subsequently converts angiotensin I to angiotensin II, which is a potent vasoconstrictor that narrows blood vessels and increases blood pressure.

Additionally, angiotensin II stimulates the adrenal glands to release aldosterone, a hormone that promotes sodium reabsorption in the kidneys and increases water retention, further raising blood pressure.

Therefore, renin plays a critical role in maintaining proper blood pressure and electrolyte balance in the body."

"Body height" is a measure of the vertical length of a person's body from the top of their head to the bottom of their feet. It is typically measured in units such as centimeters (cm) or inches (in). In medical settings, body height is often used as a basic anthropometric measurement to assess overall health status, growth and development, nutritional status, and aging-related changes.

There are different methods for measuring body height, but the most common one involves having the person stand upright against a vertical surface (such as a wall or a stadiometer) with their heels, buttocks, shoulders, and head touching the surface. The measurement is taken at the point where the top of the person's head meets the surface.

Body height can be influenced by various factors, including genetics, nutrition, health status, and environmental conditions. Changes in body height over time can provide important insights into a person's health trajectory and potential health risks. For example, a significant decrease in body height may indicate bone loss or spinal compression, while a rapid increase in height during childhood or adolescence may suggest optimal growth and development.

Tunica intima, also known as the intima layer, is the innermost layer of a blood vessel, including arteries and veins. It is in direct contact with the flowing blood and is composed of simple squamous endothelial cells that form a continuous, non-keratinized, stratified epithelium. These cells play a crucial role in maintaining vascular homeostasis by regulating the passage of molecules and immune cells between the blood and the vessel wall, as well as contributing to the maintenance of blood fluidity and preventing coagulation.

The tunica intima is supported by a thin layer of connective tissue called the basement membrane, which provides structural stability and anchorage for the endothelial cells. Beneath the basement membrane lies a loose network of elastic fibers and collagen, known as the internal elastic lamina, that separates the tunica intima from the middle layer, or tunica media.

In summary, the tunica intima is the innermost layer of blood vessels, primarily composed of endothelial cells and a basement membrane, which regulates various functions to maintain vascular homeostasis.

Complement C4 is a protein that plays a crucial role in the complement system, which is a part of the immune system that helps to clear pathogens and damaged cells from the body. Complement C4 is involved in the early stages of the complement activation cascade, where it helps to identify and tag foreign or abnormal cells for destruction by other components of the immune system.

Specifically, Complement C4 can be cleaved into two smaller proteins, C4a and C4b, during the complement activation process. C4b then binds to the surface of the target cell and helps to initiate the formation of the membrane attack complex (MAC), which creates a pore in the cell membrane and leads to lysis or destruction of the target cell.

Deficiencies or mutations in the Complement C4 gene can lead to various immune disorders, including certain forms of autoimmune diseases and susceptibility to certain infections.

Hormone Replacement Therapy (HRT) is a medical treatment that involves the use of hormones to replace or supplement those that the body is no longer producing or no longer producing in sufficient quantities. It is most commonly used to help manage symptoms associated with menopause and conditions related to hormonal imbalances.

In women, HRT typically involves the use of estrogen and/or progesterone to alleviate hot flashes, night sweats, vaginal dryness, and mood changes that can occur during menopause. In some cases, testosterone may also be prescribed to help improve energy levels, sex drive, and overall sense of well-being.

In men, HRT is often used to treat low testosterone levels (hypogonadism) and related symptoms such as fatigue, decreased muscle mass, and reduced sex drive.

It's important to note that while HRT can be effective in managing certain symptoms, it also carries potential risks, including an increased risk of blood clots, stroke, breast cancer (in women), and cardiovascular disease. Therefore, the decision to undergo HRT should be made carefully and discussed thoroughly with a healthcare provider.

Radioimmunoassay (RIA) is a highly sensitive analytical technique used in clinical and research laboratories to measure concentrations of various substances, such as hormones, vitamins, drugs, or tumor markers, in biological samples like blood, urine, or tissues. The method relies on the specific interaction between an antibody and its corresponding antigen, combined with the use of radioisotopes to quantify the amount of bound antigen.

In a typical RIA procedure, a known quantity of a radiolabeled antigen (also called tracer) is added to a sample containing an unknown concentration of the same unlabeled antigen. The mixture is then incubated with a specific antibody that binds to the antigen. During the incubation period, the antibody forms complexes with both the radiolabeled and unlabeled antigens.

After the incubation, the unbound (free) radiolabeled antigen is separated from the antibody-antigen complexes, usually through a precipitation or separation step involving centrifugation, filtration, or chromatography. The amount of radioactivity in the pellet (containing the antibody-antigen complexes) is then measured using a gamma counter or other suitable radiation detection device.

The concentration of the unlabeled antigen in the sample can be determined by comparing the ratio of bound to free radiolabeled antigen in the sample to a standard curve generated from known concentrations of unlabeled antigen and their corresponding bound/free ratios. The higher the concentration of unlabeled antigen in the sample, the lower the amount of radiolabeled antigen that will bind to the antibody, resulting in a lower bound/free ratio.

Radioimmunoassays offer high sensitivity, specificity, and accuracy, making them valuable tools for detecting and quantifying low levels of various substances in biological samples. However, due to concerns about radiation safety and waste disposal, alternative non-isotopic immunoassay techniques like enzyme-linked immunosorbent assays (ELISAs) have become more popular in recent years.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.

Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.

Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.

Pseudogenes are defined in medical and genetics terminology as non-functional segments of DNA that resemble functional genes, such as protein-coding genes or RNA genes, but have lost their ability to be expressed or produce a functional product. They are often characterized by the presence of mutations, such as frameshifts, premature stop codons, or deletions, that prevent them from being transcribed or translated into functional proteins or RNAs.

Pseudogenes can arise through various mechanisms, including gene duplication followed by degenerative mutations, retrotransposition of processed mRNA, and the insertion of transposable elements. While they were once considered "genomic fossils" with no biological relevance, recent research has shown that pseudogenes may play important roles in regulating gene expression, modulating protein function, and contributing to disease processes.

It's worth noting that there is ongoing debate in the scientific community about the precise definition and functional significance of pseudogenes, as some may still retain residual functions or regulatory potential.

Cortisone is a type of corticosteroid hormone that is produced naturally in the body by the adrenal gland. It is released in response to stress and helps to regulate metabolism, reduce inflammation, and suppress the immune system. Cortisone can also be synthetically produced and is often used as a medication to treat a variety of conditions such as arthritis, asthma, and skin disorders. It works by mimicking the effects of the natural hormone in the body and reducing inflammation and suppressing the immune system. Cortisone can be administered through various routes, including oral, injectable, topical, and inhalational.

Adrenal cortex function tests are a group of diagnostic tests that evaluate the proper functioning of the adrenal cortex, which is the outer layer of the adrenal glands. These glands are located on top of each kidney and are responsible for producing several essential hormones. The adrenal cortex produces hormones such as cortisol, aldosterone, and androgens.

There are several types of adrenal cortex function tests, including:

1. Cortisol testing: This test measures the levels of cortisol in the blood or urine to determine if the adrenal glands are producing adequate amounts of this hormone. Cortisol helps regulate metabolism, immune response, and stress response.
2. ACTH (adrenocorticotropic hormone) stimulation test: This test measures the adrenal gland's response to ACTH, a hormone produced by the pituitary gland that stimulates the adrenal glands to produce cortisol. The test involves administering synthetic ACTH and measuring cortisol levels before and after administration.
3. Aldosterone testing: This test measures the levels of aldosterone in the blood or urine to determine if the adrenal glands are producing adequate amounts of this hormone. Aldosterone helps regulate electrolyte balance and blood pressure.
4. Dexamethasone suppression test: This test involves administering dexamethasone, a synthetic corticosteroid, to suppress cortisol production. The test measures cortisol levels before and after administration to determine if the adrenal glands are overproducing cortisol.
5. Androgen testing: This test measures the levels of androgens, such as testosterone and dehydroepiandrosterone (DHEA), in the blood or urine to determine if the adrenal glands are producing excessive amounts of these hormones.

Abnormal results from adrenal cortex function tests may indicate conditions such as Addison's disease, Cushing's syndrome, congenital adrenal hyperplasia, and pheochromocytoma.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Catecholamines are a group of hormones and neurotransmitters that are derived from the amino acid tyrosine. The most well-known catecholamines are dopamine, norepinephrine (also known as noradrenaline), and epinephrine (also known as adrenaline). These hormones are produced by the adrenal glands and are released into the bloodstream in response to stress. They play important roles in the "fight or flight" response, increasing heart rate, blood pressure, and alertness. In addition to their role as hormones, catecholamines also function as neurotransmitters, transmitting signals in the nervous system. Disorders of catecholamine regulation can lead to a variety of medical conditions, including hypertension, mood disorders, and neurological disorders.

Gastric Inhibitory Polypeptide (GIP) is a 42-amino acid long peptide hormone that is released from the K cells in the duodenum and jejunum of the small intestine in response to food intake, particularly carbohydrates and fats. It is also known as glucose-dependent insulinotropic polypeptide.

GIP has several physiological effects on the body, including:

* Incretin effect: GIP stimulates the release of insulin from the pancreas in a glucose-dependent manner, which means that it only increases insulin secretion when blood glucose levels are high. This is known as the incretin effect and helps to regulate postprandial glucose levels.
* Inhibition of gastric acid secretion: GIP inhibits the release of gastric acid from the stomach, which helps to protect the intestinal mucosa from damage caused by excessive acid production.
* Increase in blood flow: GIP increases blood flow to the intestines, which helps to facilitate nutrient absorption.
* Energy storage: GIP promotes the storage of energy by increasing fat synthesis and reducing fat breakdown in adipose tissue.

Overall, GIP plays an important role in regulating glucose metabolism, energy balance, and gastrointestinal function.

... (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. ... It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. Most of ... or sex steroids from cholesterol by the adrenal glands (steroidogenesis). Each form of CAH is associated with a specific ...
... is an endocrine disorder that is an uncommon and potentially lethal form of congenital ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Bhangoo A, Anhalt H, Ten S, King SR (March 2006). "Phenotypic variations in lipoid congenital adrenal hyperplasia". Pediatr ... Kim, Chan Jong (December 2014). "Congenital lipoid adrenal hyperplasia". Annals of Pediatric Endocrinology & Metabolism. 19 (4 ...
... (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is ... Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency Lipoid congenital adrenal hyperplasia Adriaansen, Bas P. H.; ... Tsai WH, Wong CH, Dai SH, Tsai CH, Zeng YH (2020). "Adrenal Tumor Mimicking Non-Classic Congenital Adrenal Hyperplasia". ... Turcu AF, Auchus RJ (June 2015). "Adrenal steroidogenesis and congenital adrenal hyperplasia". Endocrinology and Metabolism ...
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ( ... adrenal hyperplasia with 21-hydroxylase deficiency is not the same genetic disorders as congenital adrenal hyperplasia". The ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... "Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia". The ...
... is an uncommon form of congenital adrenal hyperplasia ... Krone, Nils; Dhir, Vivek; Ivison, Hannah E.; Arlt, Wiebke (2007). "Congenital adrenal hyperplasia and P450 oxidoreductase ... Online Mendelian Inheritance in Man (OMIM): ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY - 202110 ... of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of ...
... is a form of congenital adrenal hyperplasia (CAH) which ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of ... See congenital adrenal hyperplasia for a more detailed discussion of androgen suppression and fertility potential in adolescent ...
... is an uncommon form of congenital adrenal ... Congenital Adrenal Hyperplasia, P Stewart, Chapter 14, Section IV, Williams Textbook of Endocrinology, 11th edition, Elsevier, ... The sex steroid consequences of severe 3β-HSD CAH are unique among the congenital adrenal hyperplasias: it is the only form of ... "Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase/Delta(5)-Delta(4) isomerase deficiency". Semin. Reprod ...
17-Hydroxyprogesterone can be used to screen for congenital adrenal hyperplasia (CAH). This is commonly found in patients with ... Momodu, Ifeanyi; Lee, Brian; Singh, Gurdeep (2021-02-05). "Congenital Adrenal Hyperplasia". StatPearls. Witchel, Selma Feldman ... Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are ... Patients that are deficient in hormones produced by the adrenal glands require immediate medical attention. They are given a ...
Witchel SF (October 2017). "Congenital Adrenal Hyperplasia". Journal of Pediatric and Adolescent Gynecology. 30 (5): 520-534. ... and classic and non-classic congenital adrenal hyperplasia. When premature pubarche has been identified, the clinical ... Adrenal insufficiency is a life-threatening medical condition in which the adrenal gland is damaged. This leads to not enough ... Therefore, if signs and symptoms of adrenal insufficiency are present such as fatigue, weakness, abdominal pain, or any history ...
Congenital adrenal hyperplasia - Inherited disorder of gland (adrenal). Endometrial hyperplasia - Hyperproliferation of the ... "Congenital adrenal hyperplasia". MedlinePlus Medical Encyclopedia. National Library of Medicine, U.S. Department of Health and ... Benign prostatic hyperplasia, also known as prostate enlargement. Cushing's disease - Physiopathology of hyperplasia of adrenal ... Hyperplasia of the breast - "Hyperplastic" lesions of the breast include usual ductal hyperplasia, a focal expansion of the ...
... -Deficient Congenital Adrenal Hyperplasia OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ... Non-classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (NCCAH) is a milder and late-onset congenital ... "Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Genetic and Rare Diseases Information Center ( ... November 2018). "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical ...
Lipoid congenital adrenal hyperplasia - An endocrine disorder that arises from defects in the earliest stages of steroid ... Congenital adrenal hyperplasia (CAH) - A condition that causes excessive androgen production, which causes excessive ... Mainly virilized females as a result of congenital adrenal hyperplasia (CAH) and girls with aberrant ovarian development. 46,XY ... Similarly, some clinicians have proposed that congenital adrenal hyperplasia be excluded. Human rights advocate Morgan ...
For example, in one form of congenital adrenal hyperplasia a deficiency in the 21-hydroxylase enzymatic pathway leads to an ... Witchel SF, Azziz R (2010). "Nonclassic congenital adrenal hyperplasia". International Journal of Pediatric Endocrinology. 2010 ... "Treatment and health outcomes in adults with congenital adrenal hyperplasia". Nature Reviews. Endocrinology. 10 (2): 115-24. ... Adrenal steroidogenesis pathway. Greep RO, ed. (22 October 2013). "Cortoic acids". Recent Progress in Hormone Research: ...
The causes of this can be male hormones taken during pregnancy, congenital adrenal hyperplasia, male-hormone-producing tumors ... Merke DP, Auchus RJ (September 2020). "Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency". The New England ... Witchel, Selma Feldman; Azziz, Ricardo (2010). "Nonclassic Congenital Adrenal Hyperplasia". International Journal of Pediatric ... "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline". The ...
Also, see congenital adrenal hyperplasia. Adrenal carcinoma is an extremely rare cause of primary hyperaldosteronism.[citation ... Bilateral micronodular hyperplasia is more common than unilateral adrenal adenoma. It can be asymptomatic, but these symptoms ... However, recent studies have shown that bilateral idiopathic adrenal hyperplasia is the cause in up to 70% of cases. ... alkalosis Nocturia Blurry Vision Dizziness/Vertigo The causes of primary hyperaldosteronism are adrenal hyperplasia and adrenal ...
Congenital adrenal hyperplasia is a family of congenital diseases in which mutations of enzymes that produce steroid hormones ... Congenital adrenal hyperplasia is a genetic disease produced by dysregulation of endocrine control mechanisms. A variety of ... For example, the most common form of congenital adrenal hyperplasia develops as a result of deficiency of 21-hydroxylase, an ... The most common form of congenital adrenal hyperplasia is due to 21-hydroxylase deficiency. 21-hydroxylase is necessary for ...
The CYP21A2 gene is associated with developing congenital adrenal hyperplasia due to 21-hydroxylase deficiency, a genetic ... from the clinics of congenital adrenal hyperplasia to evolutionary genetics". Eur J Hum Genet. 25 (6): 702-710. doi:10.1038/ ... "21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia". PMID 20301350. {{cite journal}}: Cite journal requires ,journal= ( ... "Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". BMC Endocrine Disorders ...
If present at birth, congenital adrenal hyperplasia can be one of the causes, since in this condition the adrenal gland of the ... "Congenital Adrenal Hyperplasia(CAH), Prader Scale". Archived from the original on 2008-05-09. Retrieved 2008-09-28. Beischer NA ... It can also be caused by the autosomal recessive congenital disorder known as Fraser syndrome. In acquired clitoromegaly, the ... Clitoromegaly (or macroclitoris) is an abnormal enlargement of the clitoris that is mostly congenital or acquired, though ...
A rarer indication would be that of a completely virilized XX child with congenital adrenal hyperplasia (Prader stage 5) being ... A child regarded as a severely virilized girl with congenital adrenal hyperplasia (CAH) may undergo both a partial clitoral ... Meyer-Bahlburg, H. F. L. (1 June 1999). "What Causes Low Rates of Child-Bearing in Congenital Adrenal Hyperplasia?". The ... 2) In rare instances when an XX child has completely virilizing congenital adrenal hyperplasia (Prader stage 5), the ovaries ...
ISBN 978-3-662-52782-5. Hindmarsh, Peter C.; Geertsma, Kathy (2017). Congenital Adrenal Hyperplasia: A Comprehensive Guide. ... ISBN 978-0-12-811483-4. Hindmarsh, Peter C.; Geertsma, Kathy (2017). Congenital Adrenal Hyperplasia: A Comprehensive Guide. ...
Late onset congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 21-hydroxylase deficiency This article ... Turcu, Adina F.; Auchus, Richard J. (2015). "Adrenal Steroidogenesis and Congenital Adrenal Hyperplasia". Endocrinology and ... In congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase or cytochrome P450 oxidoreductase (POR), the ... for Management of Congenital Adrenal Hyperplasia". Journal of the Endocrine Society. 1 (3): 186-201. doi:10.1210/js.2016-1048. ...
Turcu AF, Auchus RJ (June 2015). "Adrenal steroidogenesis and congenital adrenal hyperplasia". Endocrinology and Metabolism ... 2004). "Analysis of 21-deoxycortisol, a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ... for Management of Congenital Adrenal Hyperplasia". primary. Journal of the Endocrine Society. 1 (3): 186-201. doi:10.1210/js. ... "11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency". The ...
"Glucocorticoid Activity of Adrenal Steroid Precursors in Untreated Patients With Congenital Adrenal Hyperplasia". The Journal ... As 21-deoxycortisol can be at high levels in congenital adrenal hyperplasia, and it has structural similarity to cortisol, it ... November 2018). "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical ... 21-deoxycortisol is a marker of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, even in mild (non-classic) ...
Nubia was born with congenital adrenal hyperplasia. It was recommended she be placed in a medical foster home, but she was ...
Bhangoo A, Anhalt H, Ten S, King SR (March 2006). "Phenotypic variations in lipoid congenital adrenal hyperplasia". Pediatric ... causing a minority of cases of the rare and potentially fatal condition lipoid congenital adrenal hyperplasia. Deficiency of ... deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes". ... In adrenal cortex cells from zona fasciculata, the expression of the mRNAs encoding all three P450scc proteins is induced by ...
... is the most common post-operative complication in people with congenital adrenal hyperplasia who have genital ... Vaginal stenosis can also result from genital reconstructive surgery in people with congenital adrenal hyperplasia. Common ... Merke DP, Poppas DP (2013). "Management of adolescents with congenital adrenal hyperplasia". The Lancet. Diabetes & ... "Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every ...
Bhangoo A, Anhalt H, Ten S, King SR (March 2006). "Phenotypic variations in lipoid congenital adrenal hyperplasia". Pediatr ... "Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late ... "Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency". J. Clin. Endocrinol. ... DBP Permethrin and cypermethrin DES and arsenite BPA Mutations in the gene for StAR cause lipoid congenital adrenal hyperplasia ...
Congenital adrenal hyperplasia can cause the abnormal development of the vagina. Vaginal adenosis is the abnormal presence of ... "Congenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology". 2017-02-21. {{cite journal}}: Cite journal ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal ... "Surgical outcomes and complications of reconstructive surgery in the female congenital adrenal hyperplasia patient: What every ...
Reichman DE, White PC, New MI, Rosenwaks Z (February 2014). "Fertility in patients with congenital adrenal hyperplasia". ... General factors Diabetes mellitus, thyroid disorders, undiagnosed and untreated coeliac disease, adrenal disease Hypothalamic- ...
1 in 75,000 Congenital adrenal hyperplasia (CAH) > 1 in 25,000 Classical galactosemia (GALT) > 1 in 50,000 Newborn screening by ... Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians ... Severe combined immune deficiency (SCID) - added in 2009 Critical congenital heart defects (Screened using pulse oximetry) - ... 1 in 5,000 Congenital hypothyroidism (CH) > 1 in 5,000 Biotinidase deficiency (BIOT) > ...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. ... It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. Most of ... or sex steroids from cholesterol by the adrenal glands (steroidogenesis). Each form of CAH is associated with a specific ...
The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a ... Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations ... encoded search term (Congenital Adrenal Hyperplasia) and Congenital Adrenal Hyperplasia What to Read Next on Medscape ... Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency accounts for 5-8% of all congenital adrenal hyperplasia ...
... collectively called congenital adrenal hyperplasia) that affect the adrenal glands. Explore symptoms, inheritance, genetics of ... Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders ( ... collectively called congenital adrenal hyperplasia) that affect the adrenal glands. The adrenal glands are located on top of ... medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/ Congenital adrenal ...
Some of the common symptoms of congenital adrenal hyperplasia are acne, irregular periods, low blood pressure and dehydration. ... An error in a single gene can cause congenital adrenal hyperplasia. This is hereditary and is passed down to children from ... Remedies and Symptoms for Congenital Adrenal Hyperplasia. Posted in Category : Common Ailments ... A physical examination and a clinical examination can confirm Congenital Adrenal Hyperplasia. ...
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by several distinct enzymatic defects ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment. Ann N Y Acad ... Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by several distinct enzymatic defects ... Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J ...
The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a ... Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations ... encoded search term (Congenital Adrenal Hyperplasia) and Congenital Adrenal Hyperplasia What to Read Next on Medscape ... Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency accounts for 5-8% of all congenital adrenal hyperplasia ...
Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency - Etiology, pathophysiology, symptoms, signs, diagnosis & ... of all cases of congenital adrenal hyperplasia Overview of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia is a ... Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency By Andrew Calabria , MD, The Childrens Hospital of ... 1. Witchel SF: Congenital adrenal hyperplasia. J Pediatr Adolesc Gynecol 30(5):520-534, 2017. doi: 10.1016/j.jpag.2017.04.001 ...
Late-Onset Congenital Adrenal Hyperplasia (CAH) - a Great Mimicker of PCOS. Late-Onset Congenital Adrenal Hyperplasia (CAH) - a ...
Lipoid congenital adrenal hyperplasia: A rare form of congenital adrenal hyperplasia where the early phase of adrenal cortisol ... Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia ... With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia. *Aldosterone signaling defect in ... Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia ...
... of cases of congenital adrenal hyperplasia (CAH). Newborns are currently being screened for the classical forms of this disease ... A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase ... Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). Newborns are ...
Management challenges and therapeutic advances in congenital adrenal hyperplasia. *Primary Adrenal Insufficiency in Childhood: ... Congenital Adrenal Hyperplasia?Current Insights in Pathophysiology, Diagnostics, and Management. *Growth Trajectory and Adult ... Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia. 18 agosto 2020. ... Growth Trajectory and Adult Height in Children with Nonclassical Congenital Adrenal Hyperplasia ...
Congenital adrenal hyperplasia is a problem in the adrenal glands, which are located at the top of the kidneys. Learn more ... What is congenital adrenal hyperplasia?. Congenital adrenal hyperplasia, also known as CAH, is a problem in the adrenal glands ... What causes congenital adrenal hyperplasia?. CAH is caused by a mutation (change) in a gene that alters how the adrenal glands ... How is congenital adrenal hyperplasia treated?. There is no cure for CAH, but there is treatment. Treatment of CAH requires ...
... (CAH) is a group of inherited genetic conditions that limits the ... most people who have congenital adrenal hyperplasia can lead normal lives.. There are two major types of congenital adrenal ... Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut- ... There is no known way to prevent congenital adrenal hyperplasia. If youre thinking of starting a family and youre at risk of ...
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The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a ... encoded search term (Congenital Adrenal Hyperplasia) and Congenital Adrenal Hyperplasia What to Read Next on Medscape ... Congenital Adrenal Hyperplasia Secondary to 3-beta Hydroxysteroid Dehydrogenase Deficiency * EU Gives Okay to Two Drugs for ... Congenital Adrenal Hyperplasia Differential Diagnoses. Updated: Apr 03, 2014 * Author: Thomas A Wilson, MD; Chief Editor: ...
Tag Archive for: congenital adrenal hyperplasia. You are here: Home1 / congenital adrenal hyperplasia ... Ovarian adrenal rest tumour in a patient with chronically untreated congenital adrenal hyperplasia (CAH). July 27, 2011. /by ... Ovarian adrenal rest tissue in congenital adrenal hyperplasia-a patient report. J Pediatr Endocrinol Metab. 2006 Feb;19(2):177- ... Testicular adrenal rest tumours in congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab. 2009 Apr;23(2):209-20. ...
The adrenal glands produce several important hormones. This article looks at their function and related disorders. ... Congenital adrenal hyperplasia. A person inherits congenital adrenal hyperplasia (CAH) because of a genetic variation. This ... Without treatment, an adrenal crisis can be fatal.. Adrenal tumors. Adrenal cancer is rare, affecting as few as 200 people in ... When the adrenal glands do not make enough cortisol, it is known as adrenal insufficiency. There are three types of adrenal ...
Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia (CAH) is a rare genetic disorder that affects your adrenal glands ... Congenital Heart Disease Congenital heart disease is a heart problem that some people are born with and can include a hole in ... Congenital Heart Disease: How to Care for Your Baby and Yourself Caring for a baby with a congenital heart defect can be ...
... Example of the strategy used for PGD of Congenital Adrenal Hyperplasia (CAH). ... PGD for Congenital Adrenal Hyperplasia (CAH) performed by linkage analysis. A) Pedigree of a couple carrying CAH mutations and ... Linkage analysis was the strategy used in the PGD cycle for Congenital Adrenal Hyperplasia (CAH), performed in a consanguineous ...
The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a ... Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations ... encoded search term (Congenital Adrenal Hyperplasia) and Congenital Adrenal Hyperplasia What to Read Next on Medscape ... Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency accounts for 5-8% of all congenital adrenal hyperplasia ...
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title = "Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency",. abstract = "Congenital adrenal hyperplasia (CAH) ... keywords = "21-hydroxylase deficiency, Adrenal insufficiency, Ambiguous genitalia, Congenital adrenal hyperplasia, Prenatal ... Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency. Maria I. New, Oksana Lekarev, Denesy Mancenido, Alan Parsa, ... Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency. / New, Maria I.; Lekarev, Oksana; Mancenido, Denesy et al. ...
Diurnal receives marketing authorisation for Efmody to treat congenital adrenal hyperplasia from the MHRA (UK). Written by ...
Congenital adrenal hyperplasia answers are found in the 5-Minute Pediatric Consult powered by Unbound Medicine. Available for ... hyperplasia. Accessed September 24, 2023.. Congenital adrenal hyperplasia. (2019). In Cabana, M. D. (Ed.), 5-Minute Pediatric ... hyperplasia. Congenital Adrenal Hyperplasia [Internet]. In: Cabana MDM, editors. 5-Minute Pediatric Consult. Wolters Kluwer; ... "Congenital Adrenal Hyperplasia." 5-Minute Pediatric Consult, 8th ed., Wolters Kluwer, 2019. Pediatrics Central, peds. ...
Congenital Adrenal Hyperplasia. Congenital Adrenal Hyperplasia (CAH) is a group of diseases that are associated with variants ... El-Maouche, D., Arlt, W., & Merke, D. P. (2017). Congenital adrenal hyperplasia. Lancet (London, England), 390(10108), 2194- ... Merke, D. (2008). Approach to the Adult with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. The Journal Of ... The Igenomix Congenital Adrenal Hyperplasia Precision Panel is indicated for those patients with clinical suspicion of an CAH ...
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Overview of Congenital Adrenal Hyperplasia - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD ... The most common forms of congenital adrenal hyperplasia are 21-hydroxylase deficiency Congenital Adrenal Hyperplasia Caused by ... Overview of Congenital Adrenal Hyperplasia (Adrenogenital Syndrome; Adrenal Virilism). By Andrew Calabria , MD, The Childrens ... Congenital adrenal hyperplasia is a group of genetic disorders, each characterized by inadequate synthesis of cortisol, ...
Nonclassical Congenital Adrenal Hyperplasia and Pregnancy. Neslihan Cuhaci , Cevdet Aydın , ... , Bekir Cakir ... Congenital Bands with Intestinal Malrotation after Propylthiouracil Exposure in Early Pregnancy. Alexander A. Leung , Jennifer ... Adrenal Lymphangioma Masquerading as a Catecholamine Producing Tumor. Israel Hodish , Lindsay Schmidt , Andreas G. Moraitis ... Primary Adrenal Failure due to Antiphospholipid Syndrome. Murat Sahin , Ayten Oguz , ... , Kamile Gul ...
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  • When the adrenal glands do not make enough cortisol, it is known as adrenal insufficiency. (medicalnewstoday.com)
  • Tertiary adrenal insufficiency. (medicalnewstoday.com)
  • The symptoms of adrenal insufficiency can be difficult to spot. (medicalnewstoday.com)
  • Adrenal insufficiency requires treatment. (medicalnewstoday.com)
  • Before CHOP's diagnosis and treatment for adrenal insufficiency, Chase struggled with low energy. (chop.edu)
  • Expertise and reassurance from CHOP specialists helps Grayson, a teenager from Arkansas, thrive and grow again despite extremely rare adrenal insufficiency. (chop.edu)
  • There were several hospital admissions due to acute adrenal insufficiency until April 2014, when she presented severe hypertension, hyperkalemia and renal failure, precipitated by an infectious disease. (eurospe.org)
  • It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the adrenal cortex. (wikipedia.org)
  • Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. (medlineplus.gov)
  • In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. (medlineplus.gov)
  • CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. (medlineplus.gov)
  • Lipoid congenital adrenal hyperplasia: A rare form of congenital adrenal hyperplasia where the early phase of adrenal cortisol production is defective which causes mineralocorticoid deficiency. (checkorphan.org)
  • Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). (columbia.edu)
  • Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (medscape.com)
  • Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. (medscape.com)
  • Meyer-Bahlburg HF, Dolezal C, Haggerty R, Silverman M, New M. Cognitive Outcome of Offspring from Dexamethasone-Treated Pregnancies at Risk for Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. (medscape.com)
  • Congenital adrenal hyperplasia, or CAH, is a group of autosomal recessive disorders resulting in the deficiency of one of the enzymes required to synthesize cortisol (1). (bjuinternational.com)
  • A result of this deficiency is increased production of corticotropin-releasing hormone and ACTH, and chronically high levels of ACTH which leads to adrenal hyperplasia and production of excess adrenal androgens. (bjuinternational.com)
  • Congenital Adrenal Hyperplasia Caused by 11Beta-Hydroxylase Deficiency 11Beta-hydroxylase (CYP11B1) deficiency involves defective production of cortisol, with accumulation of mineralocorticoid precursors, resulting in hypernatremia, hypokalemia, and hypertension. (msdmanuals.com)
  • A rare form of congenital adrenal hyperplasia (CAH) due to 3-beta-hydroxysteroid dehydrogenase (HSD3B2) deficiency and characterized by salt-wasting and non-salt wasting CAH with a wide variety of symptoms including glucocorticoid and mineralocorticoid deficiencies in both sexes. (globalgenes.org)
  • In this study, 27 adolescents with Congenital Adrenal Hyperplasia (CAH, mean age 15.6 years, 12 female), a disorder of cortisol deficiency and androgen excess, and 36 healthy participants (mean age 16.3 years, 18 female) completed a reward-based antisaccade task. (johnshopkins.edu)
  • 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. (medlineplus.gov)
  • 21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. (medlineplus.gov)
  • 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia. (medlineplus.gov)
  • Haemoglobinopathies (including thalassaemia and sickle cell disease) and glucose-6-phosphate dehydrogenase deficiency, which are not covered by the ICD10 definition of congenital anomalies, account for 6% of all congenital disorders. (who.int)
  • Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by impaired cortisol synthesis. (wikipedia.org)
  • A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. (medscape.com)
  • When 11-beta-hydroxylase is lacking, precursors that are used to form cortisol and corticosterone build up in the adrenal glands and are converted to androgens. (medlineplus.gov)
  • Diagnosis is by measurement of cortisol, its precursors, and adrenal androgens, sometimes after adrenocorticotropic hormone administration. (merckmanuals.com)
  • Overview of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia is a group of genetic disorders, each characterized by inadequate synthesis of cortisol, aldosterone, or both. (merckmanuals.com)
  • Because cortisol synthesis is decreased, adrenocorticotropic hormone (ACTH) levels increase, which stimulates the adrenal cortex, causing accumulation of cortisol precursors (eg, 17- hydroxyprogesterone ) and excessive production of the adrenal androgens dehydroepiandrosterone (DHEA) and androstenedione. (merckmanuals.com)
  • The adrenal glands make several hormones in the body, such as cortisol, aldosterone and androgens (testosterone-like hormones). (childrenscolorado.org)
  • CAH is caused by a mutation (change) in a gene that alters how the adrenal glands make cortisol and aldosterone. (childrenscolorado.org)
  • People who have classic CAH are at risk of adrenal crisis because they have very low levels of cortisol in the blood. (ahdubai.com)
  • This condition develops when the adrenal gland itself does not function well and cannot make enough cortisol. (medicalnewstoday.com)
  • Without ACTH, the adrenals do not receive a signal to make cortisol. (medicalnewstoday.com)
  • This means that the adrenals cannot make enough cortisol. (medicalnewstoday.com)
  • Without enough cortisol, a person may experience an adrenal crisis. (medicalnewstoday.com)
  • In the various forms of congenital adrenal hyperplasia, production of cortisol (a glucocorticoid), aldosterone (a mineralocorticoid), or both is impaired because of an autosomal recessive genetic defect in one of the adrenal enzymes involved in synthesizing adrenal steroid hormones from cholesterol. (msdmanuals.com)
  • Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct it, also explaining why the timing of doses and measurement of cortisol from a dose is extremely important. (medical-book.net)
  • This enzyme is found in the adrenal glands, where it plays a role in producing hormones called cortisol and aldosterone. (medlineplus.gov)
  • Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. (ahdubai.com)
  • A range of medical conditions can affect the adrenal glands. (medicalnewstoday.com)
  • The nonclassic form of CAH doesn't cause adrenal crisis. (ahdubai.com)
  • Classic (CLCAH) and nonclassic (NCLCAH) forms were reported as total and partial deficiencies, respectively, of adrenal and gonadal steroid hormones.The rarity of LCAH has precluded large-scale epidemiological and clinical investigations. (elsevierpure.com)
  • These include Addison's disease, Cushing's syndrome, and adrenal cancer, as well as high blood pressure due to the overproduction of aldosterone. (medicalnewstoday.com)
  • The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. (medlineplus.gov)
  • Girls with CAH may be born with atypical sex organs, which is caused by being exposed to adrenal androgen hormones while they are developing inside the womb. (childrenscolorado.org)
  • Congenital adrenal hyperplasia (CAH) is a group of inherited genetic conditions that limits the adrenal glands' ability to make certain vital hormones. (ahdubai.com)
  • Sometimes, the adrenal glands produce too much or not enough of their hormones. (medicalnewstoday.com)
  • Specifically, CAH occurs when there is an excess of hormones in the adrenal gland. (igenomix.com)
  • Congenital adrenal hyperplasia (CAH) is a common genetic disorder due to defective 21-hydroxylation of steroid hormones. (elsevierpure.com)
  • Congenital adrenal hyperplasia (CAH) is a rare genetic disorder that affects your adrenal glands. (familydoctor.org)
  • Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive genetic disorders that arise from defective steroidogenesis. (mssm.edu)
  • The management of [congenital adrenal hyperplasia] requires a multi-disciplinary team of experienced healthcare personnel who integrate the endocrine, genetic, gyneco-urologic, reproductive, and mental health aspects of care," stated the guideline authors. (endocrinologyadvisor.com)
  • Congenital Adrenal Hyperplasia (cah) Gene, Analysis Test (CAH Genetic Testing) in Prakasam at Rs. (bajajfinservhealth.in)
  • Every year more than 7.9 million children - 6% of total births worldwide - are born with a serious congenital disorder due to genetic or environmental causes. (who.int)
  • Adetailedhistorywastakenand hadenlargedclitorisand1(7.1%)had cally.Althoughhormonal,genetic,mo- physicalexaminationandscreeningfor hypoplasticclitorisandvagina(Fraser lecularandradiographicinvestigations pituitaryhormones(thyroidstimulat- syndrome);6patientshadlabialfusion areneededtodeterminetheetiology, inghormone,adrenocorticotropichor- (42.9%)(Table1).Nogonadswere physicalexaminationremainsakeyfor mone(ACTH)andgonadotropins) palpableinanyofthem.Congenital diagnosis[ 2 ],particularlycarefulpalpa- were conducted. (who.int)
  • New MI, Rapaport R. The adrenal cortex. (medscape.com)
  • The adrenal glands have two parts: the cortex and the medulla. (medicalnewstoday.com)
  • Most tumors that affect the adrenal cortex are adenomas. (medicalnewstoday.com)
  • These are benign tumors of the adrenal cortex. (medicalnewstoday.com)
  • Although rare, this cancer can affect the cortex, which is the outer part of the adrenal gland. (medicalnewstoday.com)
  • The increased ACTH concentrations lead to chronic stimulation of the adrenal cortex and overstimulate adrenal steroidogenesis, resulting in an accumulation of steroids above the enzymatic blockage. (frontiersin.org)
  • Dehydroepiandrosterone sulfate (DHEAS) is produced in the adrenal cortex. (cdc.gov)
  • Estradiol is produced primarily in the ovary (follicle, corpus luteum), but small quantities are also formed in the testes and in the adrenal cortex, as well as in fat cells. (cdc.gov)
  • The disease also has another form called congenital lipoid hyperplasia, which means that there is a false presence of testicular and ovarian tissue. (home-remedies-for-you.com)
  • Context: Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. (elsevierpure.com)
  • In these forms, precursors proximal to the enzyme block accumulate and are shunted into adrenal androgens. (msdmanuals.com)
  • When sustained, ACTH elevation promotes adrenal gland enlargement. (frontiersin.org)
  • Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. (medscape.com)
  • The Igenomix Congenital Adrenal Hyperplasia Precision Panel can be used to make a directed and accurate differential diagnosis of ambiguous genitalia ultimately leading to a better management and prognosis of the disease. (igenomix.com)
  • Evelyn's parents had never heard of CAH, the rare adrenal condition their daughter had, until her diagnosis. (chop.edu)
  • Measurement of 17-OHP is useful in the diagnosis of congenital adrenal hyperplasia (CAH). (cdc.gov)
  • Measurement of androstenedione is useful in the diagnosis of congenital adrenal hyperplasia, in conjunction with other androgenic precursors, such as 17α-hydroxyprogesterone. (cdc.gov)
  • Measurements of DHEAS provides information about the adrenal gland function and can help with the diagnosis of congenital adrenal hyperplasia and polycystic ovary syndrome. (cdc.gov)
  • At two years' age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular hyperplasia and an. (lu.se)
  • The mosaic distribution of GW-pUPD ranged from 31 to 35% in blood and buccal swap to 74% in the resected pancreas, 80% in a non-tumour liver biopsy, and 100% in the liver focal nodular hyperplasia and adrenal tumour. (lu.se)
  • Women with inherited disorders such as Cushing syndrome, hyperprolactinemia, untreated hypothyroidism, congenital adrenal hyperplasia, or with an androgen-secreting ovarian/adrenal tumour and those taking a corticosteroid, antiepileptic or antipsychotic drugs. (who.int)
  • Near-final height in patients with congenital adrenal hyperplasia treated with combined therapy using GH and GnRHa. (medscape.com)
  • The Endocrine Society has updated their guidelines outlining best practices on diagnosing, treating, and managing patients with congenital adrenal hyperplasia (CAH). (endocrinologyadvisor.com)
  • Patients with congenital adrenal hyperplasia (CAH) are at risk of long-term cognitive and metabolic sequelae with some of the effects being attributed to the chronic glucocorticoid treatment that they receive. (edu.sa)
  • Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report. (aku.edu)
  • OBJECTIVE: To characterize specific mutations within the 21-hydroxylase gene (CYP21-B) using ARMS-PCR assay in patients with congenital adrenal hyperplasia (CAH) and to compare it with that reported in other populations. (aku.edu)
  • Dive into the research topics of 'Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members--a preliminary report. (aku.edu)
  • Background: Most congenital adrenal hyperplasia (CAH) patients carry mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations varying according to ethnicity. (eurospe.org)
  • In 46,XX karyotype patients ( n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients ( n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. (who.int)
  • 17α-hydroxyprogesterone (17-OHP) is a steroid hormone that is primarily produced in the adrenal glands, as well as in ovaries, testes, and placenta. (cdc.gov)
  • Androstenedione is a steroid hormone that is produced in the adrenal glands and the gonads. (cdc.gov)
  • Hirvikoski T, Nordenstro¨A, Wedell A, Ritzen M, and Laj S. Prenatal Dexamethasone Treatment of Children atRisk for Congenital Adrenal Hyperplasia: The SwedishExperience and Standpoint. (medscape.com)
  • This information will answer some of your questions about a borderline positive (slightly abnormal) newborn screen for congenital hypothyroidism (CH). (nsu.govt.nz)
  • The information in this resource will help you understand more Congenital Hypothyroidism and answer some of your questions. (nsu.govt.nz)
  • Congenital adrenal hyperplasia: do the benefits of prenatal treatment defeat the risks? (medscape.com)
  • Ovarian adrenal rest tumours (OART) are another, albeit less common, form of an extra adrenal tissue that can occur in females with CAH. (bjuinternational.com)
  • Masculinized finger length patterns in human males and females with congenital adrenal hyperplasia. (bvsalud.org)
  • Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by several distinct enzymatic defects that result in changes in steroidogenesis. (arupconsult.com)
  • We also discuss the causes, diagnoses, and treatment options related to adrenal gland disorders. (medicalnewstoday.com)
  • The following sections discuss the most common adrenal gland disorders. (medicalnewstoday.com)
  • Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that disrupt adrenal steroidogenesis. (frontiersin.org)
  • This paper aims to inform the discussion on birth defects and congenital disorders, given their importance as a cause of stillbirths and neonatal mortality. (who.int)
  • The most common serious congenital disorders are congenital heart defects, neural tube defects and Down syndrome. (who.int)
  • An expanded definition covers abnormalities of structure or function, including metabolism, which are present from birth, but irrespective of which definition is used, there is an immediate need to prevent and manage serious congenital disorders. (who.int)
  • Further, the distribution of the causes of death of neonates and infants aged 1-59 months shifts as child mortality levels decline, with, as a result, conditions such as congenital disorders, injuries and chronic diseases assuming much greater importance as causes of child mortality than infections and asphyxia. (who.int)
  • These percentages are likely to be underestimates because they rely on data from verbal autopsy studies, thereby resulting in some probable misclassifications of deaths due to congenital disorders such as congenital heart defects. (who.int)
  • Control of congenital disorders assumes a higher priority in countries and settings with relatively low under-five mortality rates where 10% or more of all child deaths are expected to be caused by congenital anomalies. (who.int)
  • The diversity of causes and determinants of congenital disorders requires a range of preventive and treatment approaches, some of which raise ethical and social issues. (who.int)
  • An error in a single gene can cause congenital adrenal hyperplasia. (home-remedies-for-you.com)
  • The regular cost of Congenital Adrenal Hyperplasia (cah) Gene, Analysis Test is ₹20500 in Prakasam, but we are offering a 5% discount, so you can book it for just ₹19475. (bajajfinservhealth.in)
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  • Check if selected lab partner in Prakasam provides home sample collection for Congenital Adrenal Hyperplasia (CAH) Gene, Analysis test. (bajajfinservhealth.in)
  • What should be the next step after I receive my Congenital Adrenal Hyperplasia (CAH) Gene, Analysis test report? (bajajfinservhealth.in)
  • Once you receive your Congenital Adrenal Hyperplasia (CAH) Gene, Analysis test results, your physician might advise you with corrective measures if they are not in the normal range. (bajajfinservhealth.in)
  • How can I book a Congenital Adrenal Hyperplasia (CAH) Gene, Analysis test near me in Prakasam? (bajajfinservhealth.in)
  • You can easily book an appointment for Congenital Adrenal Hyperplasia (CAH) Gene, Analysis test on our website. (bajajfinservhealth.in)
  • This is known as an adrenal crisis, and it can be life-threatening. (ahdubai.com)
  • When this happens, it is known as an adrenal gland disorder. (medicalnewstoday.com)
  • RÉSUMÉ Nous avons étudié les principales anomalies congénitales chez les bébés nés à l'hôpital d'Al Jahra au Koweït de janvier 2000 à décembre 2001. (who.int)
  • Classification of Diseases Tenth Revision (ICD10), congenital anomalies include congenital malformations, deformations and chromosomal abnormalities, but exclude inborn errors of metabolism. (who.int)
  • In addition, haemolytic disease of the newborn caused by Rhesus incompatibility, a preventable and relatively frequent disorder, is not included in the ICD10 definition of congenital anomalies. (who.int)
  • According to World health statistics 2008 ,1 about 260 000 neonatal deaths worldwide are caused by congenital anomalies. (who.int)
  • Taken together, these figures indicate, in the context of achieving the target of Millennium Development Goal 4, namely, reduce by two thirds, between 1990 and 2015, under-five mortality rate, the need to reduce the rate of congenital anomalies. (who.int)
  • Congenital anomalies are also a leading cause of fetal death and an increasing cause of neonatal mortality in countries undergoing the epidemiological transition (for example, China). (who.int)
  • Although congenital anomalies account for a smaller percentage of deaths of neonates and infants aged 1-59 months in middle-income and low-income countries than in the wealthiest countries, more than 95% of all child deaths due to congenital anomalies occur in these settings, indicating that congenital anomalies affect all countries and represent a significant challenge to public health globally. (who.int)
  • ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)
  • Parental interview and family were defined as abnormalities that impede history are often used to validate the cause the normal body functions and reduce life of congenital abnormalities. (who.int)
  • The later amination were carried out to assess the survival or reproduction of the affected in- major congenital abnormalities. (who.int)
  • For men with CAH, testicular adrenal rest tumours (TART) are common with a prevalence as high as 95% in some reports and detection can occur as early as childhood (3). (bjuinternational.com)
  • In both forms, adrenal androgen levels are elevated, causing virilization. (merckmanuals.com)
  • You have just learned that your baby has had a borderline (slightly abnormal) newborn screen for congenital adrenal hyperplasia (CAH). (nsu.govt.nz)
  • The history of newborn screening (NBS) demonstrates the strength and integrity of its mission: to identify children with congenital conditions who need treatment to prevent adverse outcomes. (cdc.gov)
  • Major congenital malformations known. (who.int)
  • There is a higher incidence of major · congenital malformations among Arabs of Chromosomal aberrations the Gulf region [ 12,13 ]. (who.int)
  • CAH results from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids, or sex steroids from cholesterol by the adrenal glands (steroidogenesis). (wikipedia.org)
  • Congenital Adrenal Hyperplasia (CAH) is a group of diseases that are associated with variants or mutations in the genes that are involved in hormone production. (igenomix.com)
  • Final adult height in children with congenital adrenal hyperplasia treated with growth hormone. (medscape.com)
  • A case of a woman with CAH including OART who presented with a contralateral adrenal mass and a 17 year history of non-compliance with adrenal hormone replacement therapy. (bjuinternational.com)
  • Pediatrics Central , peds.unboundmedicine.com/pedscentral/view/5-Minute-Pediatric-Consult/618021/all/Congenital_adrenal_hyperplasia. (unboundmedicine.com)
  • Affected female new-borns can show ambiguous external genitalia and in both sexes with the salt-wasting form, hazardous adrenal crises developed postnatally. (uni-hamburg.de)
  • However, a doctor may need to remove them if they interfere with adrenal gland function or reach a certain size. (medicalnewstoday.com)
  • Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation. (igenomix.com)
  • Although there is no cure, with proper treatment, most people who have congenital adrenal hyperplasia can lead normal lives. (ahdubai.com)
  • Adrenal crisis is a life-threatening medical emergency that requires immediate treatment. (ahdubai.com)
  • Without treatment, an adrenal crisis can be fatal. (medicalnewstoday.com)
  • Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment. (igenomix.com)
  • We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy. (lu.se)
  • Adrenal rest tumours (ART) are extra-adrenal manifestations of adrenal tissue and 50% of neonates with CAH have ART. (bjuinternational.com)
  • The expert care provided at CHOP's Adrenal and Puberty Center for children with congenital adrenal hyperplasia is well worth the long drive for the Bair family. (chop.edu)
  • The condition is caused by a lack of a certain enzyme in the adrenal gland. (chkd.org)