Adrenal hyperplasia congenital. Medical search

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)

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)

... (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 ...

https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia

... 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 ...

https://en.wikipedia.org/wiki/Lipoid_congenital_adrenal_hyperplasia

... (LOCAH), also known as nonclassic congenital adrenal hyperplasia (NCCAH or NCAH), is ... Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency Lipoid congenital adrenal hyperplasia El-Maouche D, Arlt W, ... 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 ...

https://en.wikipedia.org/wiki/Late_onset_congenital_adrenal_hyperplasia

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 ...

https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency

... 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 ...

https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_17α-hydroxylase_deficiency

... 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 ...

https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_11β-hydroxylase_deficiency

... 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 ...

https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_3β-hydroxysteroid_dehydrogenase_deficiency

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 ...

https://en.wikipedia.org/wiki/Sexual_anomalies

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 ...

https://en.wikipedia.org/wiki/Hyperplasia

... -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 ...

https://en.wikipedia.org/wiki/21-Hydroxylase

For example, in one form of congenital adrenal hyperplasia a deficiency in the 21-hydroxylase enzymatic pathway leads to an ... Han TS, Walker BR, Arlt W, Ross RJ (Feb 2014). "Treatment and health outcomes in adults with congenital adrenal hyperplasia". ... Witchel SF, Azziz R (2010). "Nonclassic congenital adrenal hyperplasia". International Journal of Pediatric Endocrinology. 2010 ... Adrenal steroidogenesis pathway. Greep RO, ed. (22 October 2013). "Cortoic acids". Recent Progress in Hormone Research: ...

https://en.wikipedia.org/wiki/Steroid

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 ...

https://en.wikipedia.org/wiki/Intersex

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 ...

https://en.wikipedia.org/wiki/Hyperaldosteronism

Late onset congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Auchus RJ (November ... Ignoring this pathway may lead to diagnostic pitfalls and confusion, for example, in late onset congenital adrenal hyperplasia ... White PC (June 2018). "Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency". ... Auchus, Richard J. (2010). "Management of the Adult with Congenital Adrenal Hyperplasia". International Journal of Pediatric ...

https://en.wikipedia.org/wiki/Androgen_backdoor_pathway

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 ...

https://en.wikipedia.org/wiki/Clitoromegaly

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 ...

https://en.wikipedia.org/wiki/Intersex_medical_interventions

Congenital adrenal hyperplasia is a congenital disease in which mutations of enzymes that produce steroid hormones result in a ... 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 ...

https://en.wikipedia.org/wiki/Adrenal_gland

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. ...

https://en.wikipedia.org/wiki/Orchidometer

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. ... While studies suggest that 11β-OHP, also known as 21-deoxycorticosterone, can be used as marker for adrenal 21-hydroxylase ...

https://en.wikipedia.org/wiki/11β-Hydroxyprogesterone

"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) ...

https://en.wikipedia.org/wiki/21-Deoxycortisol

Nubia was born with congenital adrenal hyperplasia. It was recommended she be placed in a medical foster home, but she was ...

https://en.wikipedia.org/wiki/Murder_of_Nubia_Barahona

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. Cholesterol side ... 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 ...

https://en.wikipedia.org/wiki/Cholesterol_side-chain_cleavage_enzyme

... 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 ...

https://en.wikipedia.org/wiki/Vaginal_stenosis

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 ...

https://en.wikipedia.org/wiki/Steroidogenic_acute_regulatory_protein

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 ...

https://en.wikipedia.org/wiki/Vaginal_anomalies

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- ...

https://en.wikipedia.org/wiki/Infertility

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) > ...

https://en.wikipedia.org/wiki/List_of_disorders_included_in_newborn_screening_programs

21-hydroxylase deficiency is a type of congenital adrenal hyperplasia in which there is an overproduction of adrenal steroid, ... "Effects of Adrenal Steroids on the Bone Metabolism of Children with Congenital Adrenal Hyperplasia". Annals of the New York ... "Diagnosis and management of classical congenital adrenal hyperplasia". Steroids. 78 (8): 741-746. doi:10.1016/j.steroids. ... Adrenal steroids are specifically produced in the adrenal cortex. Adrenal steroids are distinguished from gonadal steroids, ...

https://en.wikipedia.org/wiki/Adrenal_steroid

17-hydroxyprogesterone is elevated in congenital adrenal hyperplasia. Elevated testosterone and amenorrhea can suggest PCOS. ... It may be caused by developmental problems, such as the congenital absence of the uterus, failure of the ovary to receive or ... Elevated androgens can also be present in ovarian or adrenal tumors, so additional imaging may also be needed. History of ...

https://en.wikipedia.org/wiki/Amenorrhea

She was born with congenital adrenal hyperplasia (CAH). In her mid-30s, she began learning about intersex people and the ...

https://en.wikipedia.org/wiki/Betsy_Driver

... such as due to polycystic ovary syndrome or congenital adrenal hyperplasia, in women As a component of hormone therapy for ... It has also been studied in the treatment of benign prostatic hyperplasia. By far the most widely used NSAA, due to its ... It has also been studied in the treatment of benign prostatic hyperplasia. Now little-used due to high incidence of elevated ... It was under development as an oral medication for the treatment of benign prostatic hyperplasia and as a topical medication ...

https://en.wikipedia.org/wiki/Nonsteroidal_antiandrogen

... adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local ...

https://en.wikipedia.org/wiki/Macroorchidism

Congenital adrenal hyperplasia Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Congenital adrenal hyperplasia ... 17 alpha-hydroxylase deficiency Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Congenital adrenal hyperplasia ... Congenital s Congenital megacolon Congenital megaloureter Congenital mesoblastic nephroma Congenital microvillous atrophy ... Congenital v Congenital toxoplasmosis Congenital unilateral pulmonary hypoplasia Congenital vagal hyperreflexivity Congenital ...

https://en.wikipedia.org/wiki/List_of_diseases_(C)

... and congenital adrenal hyperplasia, and the physiologic and molecular mechanisms of stress. Early in his career, he described ... Chrousos has focused his research on the hypothalamic-pituitary-adrenal axis (HPA axis) and has extensively studied the ... The Hypothalamic-Pituitary-Adrenal Axis and Immune-Mediated Inflammation. New England Journal of Medicine 332:20 1351-1362. [6 ...

https://en.wikipedia.org/wiki/George_P._Chrousos

By the 1890s, the profound effect of adrenal extracts on many different tissue types had been discovered, setting off a search ... Tracy RE, White S (February 2002). "A method for quantifying adrenocortical nodular hyperplasia at autopsy: some use of the ... "Prevention of Measles, Rubella, Congenital Rubella Syndrome, and Mumps, 2013". Archived from the original on 10 November 2014. ... The blood pressure raising and vasoconstrictive effects of adrenal extracts were of particular interest to surgeons as ...

https://en.wikipedia.org/wiki/Pharmaceutical_industry

... from the clinics of congenital adrenal hyperplasia to evolutionary genetics". Eur J Hum Genet. 25 (6): 702-710. doi:10.1038/ ... "Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". BMC Endocrine Disorders ...

https://en.wikipedia.org/wiki/RCCX

Young MC, Hughes IA (1991). "Loss of therapeutic control in congenital adrenal hyperplasia due to interaction between ... Biale, Y; H. Lewenthal (1984). "Effect of folic acid supplementation on congenital malformations due to anticonvulsive drugs". ... Nelson, Marjorie M.; C. Willet Asling; Herbert M. Evans (1 September 1952). "Production of multiple congenital abnormalities in ...

https://en.wikipedia.org/wiki/Primidone

Female infants born with a 46,XX genotype but have genitalia affected by congenital adrenal hyperplasia and are treated ... Congenital disorders, Pediatric gynecology, Chromosomes, Urethra disorders, Female genital mutilation, Ethically disputed ...

https://en.wikipedia.org/wiki/Clitoridectomy

... notably that concerning women with congenital adrenal hyperplasia. Though noting that LeVay acknowledged the limitations of his ...

https://en.wikipedia.org/wiki/The_Sexual_Brain

Severe cases of hyperandrogenism, such as in congenital adrenal hyperplasia. As part of the pharmacologic treatment of ...

https://en.wikipedia.org/wiki/Gonadotropin-releasing_hormone_agonist

"Treatment and health outcomes in adults with congenital adrenal hyperplasia". Nature Reviews Endocrinology. 10 (2): 115-124. ... Steroid hormones can be grouped into two classes: corticosteroids (typically made in the adrenal cortex, hence cortico-) and ... The natural steroid hormones are generally synthesized from cholesterol in the gonads and adrenal glands. These forms of ... S2CID 6090764Figure 2: The adrenal steroidogenesis pathway.{{cite journal}}: CS1 maint: postscript (link) An animated and ...

https://en.wikipedia.org/wiki/Steroid_hormone

It can be caused by congenital abnormalities such as vesicoureteral reflux, blockage of the ureters by kidney stones, pregnancy ... It can occur following hemorrhage, shock, volume depletion, congestive heart failure, adrenal insufficiency, and narrowing of ... compression of the ureters by cancer, prostatic hyperplasia, or blockage of the urethra by kidney or bladder stones. Like in ...

https://en.wikipedia.org/wiki/Azotemia

Ambiguous genitalia Intersex surgery Androgen insensitivity syndrome Congenital adrenal hyperplasia Mendonca, Berenice ...

https://en.wikipedia.org/wiki/5α-Reductase_2_deficiency

... mirrored earlier results from a survey of a congenital adrenal hyperplasia support group, the CARES Foundation. In 2013, ... "We basically treat them because they have a congenital anomaly"." In response to the 2017 Human Rights Watch report, Associated ...

https://en.wikipedia.org/wiki/Intersex_rights_in_the_United_States

Acral dry gangrene Acromegaly Addison's disease Adrenal adenoma Adrenal carcinoma Adrenal hyperplasia Alopecia-nail dystrophy- ... Congenital erosive and vesicular dermatosis Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit ( ... congenital constriction bands, pseudoainhum) Aplasia cutis congenita (cutis aplasia, congenital absence of skin, congenital ... congenital auricular fistula, congenital preauricular fistula, preauricular cyst) Rapidly involuting congenital hemangioma ( ...

https://en.wikipedia.org/wiki/List_of_skin_conditions

Congenital estrogen deficiency can alternatively be caused by a defect in aromatase, the enzyme responsible for the ... However, there is an increased incidence of prostate hyperplasia with age. Body weight and fat distribution appear to be normal ... while concentrations of adrenal steroids including cortisol, dehydroepiandrosterone (DHEA), 11β-hydroxyandrostenedione, 11- ... June 2001). "Congenital estrogen deficiency: in search of the estrogen role in human male reproduction". Molecular and Cellular ...

https://en.wikipedia.org/wiki/Estrogen_insensitivity_syndrome

For example, girls with increased prenatal testosterone levels, due to congenital adrenal hyperplasia (CAH), show more male- ...

https://en.wikipedia.org/wiki/Gender_typing

Lesch-Nyhan syndrome Disorders of steroid metabolism lipoid congenital adrenal hyperplasia congenital adrenal hyperplasia ... adrenal insufficiency, hypogonadism, diabetes mellitus Dozens of congenital metabolic diseases are now detectable by newborn ... Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Disorders of ... Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The ...

https://en.wikipedia.org/wiki/Inborn_errors_of_metabolism

Their lawsuit states that she "had a history of Congenital Adrenal Hyperplasia, a condition that required the daily ...

https://en.wikipedia.org/wiki/Narconon

"Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the ...

https://en.wikipedia.org/wiki/Facial_hair

TP53 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; 202010; CYP11B1 Adrenal hyperplasia, congenital, ... LMNB2 Lipoid adrenal hyperplasia; 201710; STAR Lipoid congenital adrenal hyperplasia; 201710; CYP11A Lipoid proteinosis; 247100 ... GUCY2D Leber congenital amaurosis 10; 611755; CEP290 Leber congenital amaurosis 12; 610612; RD3 Leber congenital amaurosis 13; ... LRAT Leber congenital amaurosis 2; 204100; RPE65 Leber congenital amaurosis 3; 604232; SPATA7 Leber congenital amaurosis 4; ...

https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes

At birth, the adrenal glands weight approximately eight to nine grams (twice that of the adult adrenal glands) and are 0.5% of ... Maternal hyperglycemia is also linked to increased insulin levels and beta cell hyperplasia in the post-term infant. Children ... congenital heart disease, and improper organ development. The reproductive system begins development at four to five weeks of ... The fetal adrenal cortex can be identified within four weeks of gestation. The adrenal cortex originates from the thickening of ...

https://en.wikipedia.org/wiki/Development_of_the_endocrine_system

... lipoid congenital adrenal hyperplasia, with RE Siebenmann (1957) hereditary fructose intolerance, with R. Froesh, A. Labhart et ... effort of a collective of scientists headed by Guido Fanconi that studied and described a condition related to chronic adrenal ...

https://en.wikipedia.org/wiki/Andrea_Prader

She was born with the rare medical condition congenital adrenal hyperplasia, which leads to excessive generation of ...

https://en.wikipedia.org/wiki/Lisa_Lee_Dark

... a common cause of ACTH secreted ectopically Congenital adrenal hyperplasia, diseases in the production of cortisol Nelson's ... leading to secondary adrenal insufficiency (a form of hypocorticism) Addison's disease, the primary adrenal insufficiency ( ... chronically elevated ACTH levels occur in primary adrenal insufficiency (e.g. Addison's disease) when adrenal gland production ... These are mainly not associated with the pituitary-adrenal axis. MC2R is the ACTH receptor. While it has a crucial function in ...

https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone

Gupta, Devendra; Sharma, Shilpa (2012). "Male genitoplasty for 46 XX congenital adrenal hyperplasia patients presenting late ...

https://en.wikipedia.org/wiki/LGBT_rights_in_India

Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. ... Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 children are born with congenital ... Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. ... People with congenital adrenal hyperplasia lack an enzyme the adrenal glands need to make the hormones. ...

https://medlineplus.gov/ency/article/000411.htm

Purchase Congenital Adrenal Hyperplasia - 1st Edition. Print Book & E-Book. ISBN 9780128114834, 9780128114841 ... As the parent of a young adult with Salt Wasting Congenital Adrenal Hyperplasia, Kathy Geertsma became Chair of the Congenital ... Congenital Adrenal Hyperplasia. Holiday Sale. :. Save up to 25% on print and eBooks with FREE shipping. No promo code needed. ... Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct ...

https://www.elsevier.com/books/congenital-adrenal-hyperplasia/hindmarsh/978-0-12-811483-4

Adrenal Hemorrhage and Adrenal Hematoma Non-functional Adrenal Tumor Functional Adrenal Tumor Surgery Adrenal Insufficiency ( ... Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that involve the adrenal glands, a pair of small ... What is congenital adrenal hyperplasia?. Healthy adrenal glands produce important hormones, including:. *Cortisol, which ... Congenital adrenal hyperplasia (CAH) describes a group of hereditary (inherited) genetic disorders affecting your adrenal ...

https://www.hopkinsmedicine.org/health/conditions-and-diseases/congenital-adrenal-hyperplasia

Glucocorticoid replacement therapy is the mainstay of treatment for congenital adrenal hyperplasia (CAH) but has a narrow ... Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients. J. Clin. Endocrinol. Metab. 95, ... Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis * ... The UK Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) cohort is a cross-sectional study of adult CAH patients ( ...

https://www.nature.com/articles/s41598-017-17220-5?error=cookies_not_supported&code=377c7b61-3147-4da0-a00e-6dfa97c7c9c1

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders marked by a deficiency of enzymes involved in ... Endocrine Society > Adrenal Disorders Hydrocortisone Suspensions Better For Children With Congenital Adrenal Hyperplasia?. - ... Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders marked by a deficiency of enzymes involved in ... Increased ACTH levels cause adrenal stimulation, which leads to an increase in the synthesis of androgens, enabling ...

https://www.medpagetoday.com/reading-room/endocrine-society/adrenal-disorders/97177

... 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 ...

https://medlineplus.gov/genetics/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency/

... raising suspicion for congenital adrenal hyperplasia (CAH), and she came under the care of CHOPs Adrenal and Puberty Center. A ... Classic congenital Adrenal Hyperplasia Diagnosed in the Newborn Period. Published on Nov 19, 2019 in Childrens Doctor ... Congenital Adrenal Hyperplasia Guideline Resources. Endocrine Society Web site. Accessed September 25, 2019. ... "congenital adrenal hyperplasia" so emergency responders are able to quickly recognize the needs of the child. L.M. was given a ...

https://www.chop.edu/news/classic-congenital-adrenal-hyperplasia-diagnosed-newborn-period

Congenital adrenal hyperplasia. Print this page. Congenital adrenal hyperplasia (CAH) refers to any of several autosomal ... Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency. *Congenital adrenal hyperplasia due to 3β-hydroxysteroid ... Adrenal insufficiency. External links. *Guide to Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency for parents or ... and overactivity of the steroid-producing cells of the adrenal cortex. The defects causing adrenal hyperplasia are congenital ( ...

https://t-vox.org/medical/congenital-adrenal-hyperplasia

Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia refers to a collection of genetic conditions that limit the ... patients with the classic and most severe form of congenital adrenal hyperplasia may present with ambiguous genitalia (girls), ... adrenal glands ability to produce essential hormones, especially cortisol. These conditions can occur in both males and ...

https://www.adventhealth.com/practice/adventhealth-medical-group/congenital-adrenal-hyperplasia?is_secondary=1&f%5B0%5D=network%3Aadventhealth%20medical%20group&f%5B1%5D=network%3Aother&f%5B2%5D=new-patients%3A1&f%5B3%5D=provider-type%3Amd&f%5B4%5D=reason%3A1

Provider Information Congenital Adrenal Hyperplasia Decision Tree Congenital Adrenal Hyperplasia Fact Sheet Congential Adrenal ... Congenital Adrenal Hyperplasia Parent Information The Magic Foundation Family Support Information Family Support Information ... Congenital Adrenal Hyperplasia Decision Tree. Congenital Adrenal Hyperplasia Fact Sheet. Congential Adrenal Hyperplasia ...

https://www.oklahoma.gov/health/services/children-family-health/screening-and-special-services/newborn-screening-program/disorders-screened/congenital-adrenal-hyperplasia.html

Congenital adrenal hyperplasia or CAH is included in newborn screening. ... Congenital Adrenal Hyperplasia State mandated newborn screening was initiated in the early 1960s for the identification of ... hemoglobinopathy and congenital adrenal hyperplasia. CAH is an autosomal recessive disorder that affects approximately 1 in ... Decreased cortisol synthesis leads to elevated ACTH levels, which produces adrenal hyperplasia. Five different enzyme ...

http://www.clinlabnavigator.com/congenital-adrenal-hyperplasia.html

Adrenal Hyperplasia, Congenital Age Factors Birth Weight Costs And Cost Analysis Humans Infant, Newborn Neonatal Screening ... Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states Cite ... Title : Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states Personal Author(s ... Texas mandates a two-test newborn screening program for congenital adrenal hyperplasia (CAH): one test at birth and a second ...

https://stacks.cdc.gov/view/cdc/64623

Therapy of congenital adrenal hyperplasia transidtionally is monitored by the amount of urinary 17-KS. However, 24-hour urine ... N2 - Therapy of congenital adrenal hyperplasia transidtionally is monitored by the amount of urinary 17-KS. However, 24-hour ... AB - Therapy of congenital adrenal hyperplasia transidtionally is monitored by the amount of urinary 17-KS. However, 24-hour ... abstract = "Therapy of congenital adrenal hyperplasia transidtionally is monitored by the amount of urinary 17-KS. However, 24- ...

https://researchexperts.utmb.edu/en/publications/the-use-of-plasma-androstenedione-in-monitoringtherapy-of-patient

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 ... Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinol Metab Clin North Am. 2015 Jun. 44 (2):275-96. [QxMD ... Congenital Adrenal Hyperplasia Clinical Presentation. Updated: Feb 03, 2022 * Author: Thomas A Wilson, MD; Chief Editor: ...

https://www.staging.medscape.com/answers/919218-53066/what-are-the-causes-of-congenital-adrenal-hyperplasia-cah

... (lipoid CAH), the most fatal form of adrenal hyperplasia, seriously disrupts adrenal and ... International Congenital Lipoid Adrenal Hyperplasia Consortium. The pathophysiology and genetics of congenital lipoid adrenal ... Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal ... Congenital lipoid adrenal hyperplasia. Article information. Ann Pediatr Endocrinol Metab. 2014;19(4):179-183 ...

https://e-apem.org/journal/view.php?number=547&viewtype=pubreader

... (CAH) is the commonest inherited (congenital) endocrine (hormone ... Their bodys response to this is to try and push the adrenal glands harder and they therefore enlarge in size (hyperplasia). ... CAH results from mutations in the genes that code for enzymes that make steroid hormones in the adrenal gland. The most common ... Patients with CAH have adrenal insufficiency, that is a deficiency in the stress hormone cortisol. ...

https://www.effrx.com/congenital-adrenal-hyperplasia/

Eight patients (7 females, 1 male) with congenital adrenal hyperplasia (CAH), were seen over a 24-month period beginning from ... Congenital adrenal hyperplasia: experience at Calcutta. Indian Pediatrics. 1992 Aug; 29(8): 1013-8. ...

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Most Common Cause of Congenital Adrenal Hyperplasia is 21-Hydroxylase Deficiency (then 11-) ... Nadas criteria Presence of 1 major or 2 minor criteria indicate very high probability of a congenital heart disease. Major Syst ... Nadas criteria Presence of 1 major or 2 minor criteria indicate very high probability of a congenital heart disease. Major Syst ...

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https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/816256/all/Congenital_Adrenal_Hyperplasia?refer=true

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https://www.texastransitiontoolkit.org/tag/nonclassical-congenital-adrenal-hyperplasia/

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... BALSAMO, ANTONIO;BALDAZZI, LILIA;MENABO, SOARA; ... Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the ... Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the ... enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. ...

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Congenital Adrenal Hyperplasia (CYP21A2) sequencin.... *Congenital Adrenal Hyperplasia (CYP21A2) screening.... *SCREENING DRUGS ...

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Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by a defect in steroidogenesis ... abstract = "Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by a defect in ... N2 - Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by a defect in ... AB - Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by a defect in ...

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Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. Congenital adrenal hyperplasia due to P450 oxidoreductase ... POR mutation; A (p.S460Y) variant" class="link1">c.1379 C,A (p.S460Y) variant; congenital adrenal hyperplasia; cytochrome P450 ... To raise awareness of Cytochrome P450 Oxidoreductase Deficiency (PORD, a rare form of congenital adrenal hyperplasia (CAH), ... In this case, the patient had a history of infertility, and her third child was born with congenital defect and carried a PORD- ...

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An update of congenital adrenal hyperplasia. Maria I New Annals of the New York Academy of Sciences 2004, 1038: 14-43 ... Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. A D Carlson, J S Obeid, N Kanellopoulou, R C Wilson ... Congenital adrenal hyperplasia. Molecular insights learned from patients. G Kalaitzoglou, M I New Receptor 1993, 3 (3): 211-22 ... 21-hydroxylase deficiency congenital adrenal hyperplasia. M I New Journal of Steroid Biochemistry and Molecular Biology 1994, ...

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Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and ... Clinical hormonal ovarian and genetic aspects of 46 XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. ... Clinical hormonal ovarian and genetic aspects of 46 XX patients with congenital adrenal hyperplasia due to CYP17A1 defects. ... Clinical hormonal ovarian and genetic aspects of 46 XX patients with congenital adrenal hyperplasia due to CYP17A1 defects ...

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Non-Classical Congenital Adrenal Hyperplasia (NCAH) NCAH is a mild form of congenital adrenal hyperplasia (CAH), a group of ... Polycystic ovary syndrome (PCOS), Cushings syndrome, non-classical congenital adrenal hyperplasia (NCAH), and androgen- ... Adrenal glands, located above your kidneys, produce several hormones integral to different processes. They help regulate your ...

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Congenital adrenal hyperplasia. Table 6 shows that out of 42 positive CAH screening results 41 babies were term deliveries and ... Congenital adrenal hyperplasia (CAH) screening also started as a pilot study in January 2005 before expansion to the national ... Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Clinical ... Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase ...

http://www.emro.who.int/ar/emhj-vol-20-2014/volume-20-issue-1/expanding-the-comprehensive-national-neonatal-screening-programme-in-the-united-arab-emirates-from-1995-to-2011.html

Steroids cannot be stopped suddenly because doing so may lead to adrenal insufficiency . (medlineplus.gov)
Parents were instructed to have a medic-alert bracelet made that says "Adrenal Insufficiency" or "Steroid Dependent," rather than "congenital adrenal hyperplasia" so emergency responders are able to quickly recognize the needs of the child. (chop.edu)
In patients who are sick and who have signs of adrenal insufficiency, therapy should consist of stress dosages of hydrocortisone (50-100 mg/m 2 or 1-2 mg/kg IV administered as an initial dose), followed by 50-100 mg/m 2 /d IV divided every 6 hours. (medscape.com)
The goal of therapy for adrenal hyperplasia is the replacement of glucocorticoid and mineralocorticoid to prevent signs of adrenal insufficiency and to prevent the accumulation of precursor hormones that cause virilization. (medscape.com)
In the growing child with adrenal insufficiency, long-term glucocorticoid replacement must be balanced to prevent symptoms of adrenal insufficiency while still allowing the child to grow at a normal rate and prevent symptoms of glucocorticoid excess. (medscape.com)
P450scc deficiency will also inhibit placental progesterone synthesis and probably interrupts pregnancy, although rare P450scc mutations have been reported in children with adrenal insufficiency 6 , 7 , 8 , 9) . (e-apem.org)
Patients with CAH have adrenal insufficiency, that is a deficiency in the stress hormone cortisol. (effrx.com)
Typical clinical manifestation includes adrenal insufficiency -related symptoms, such as bone malformations and sexual development disorders . (bvsalud.org)
We report the cases of three adult males with nonclassic LCAH in whom primary adrenal insufficiency had been diagnosed at 5 days, 4 years, and 5 years of age. (elsevier.com)
Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? (hunimed.eu)
X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of beta-oxidation with accumulation of very long chain fatty acids (VLCFAs) in various tissues, and a rare cause of primary adrenal insufficiency (PAI). (hunimed.eu)
Herein, we reported the case of a 39-year-old Vietnamese male with primary adrenal insufficiency due to bilateral adrenal tuberculosis. (bioscientifica.com)
83 nmol/L) and high plasma adrenocorticotropic hormone levels were consistent with primary adrenal insufficiency. (bioscientifica.com)
Primary adrenal insufficiency can be misdiagnosed as other mimicking diseases, such as gastrointestinal illness, leading to diagnostic pitfalls. (bioscientifica.com)
however, it remains an important cause of primary adrenal insufficiency, especially in developing countries. (bioscientifica.com)
Replacement therapy in adrenal insufficiency. (drugguide.com)
Triamcinolone is used as an alternative treatment for adrenal insufficiency. (firedrug.com)

The resulting adrenal stimulation leads to increased production of androgens (male hormones). (hopkinsmedicine.org)
Increased ACTH levels cause adrenal stimulation, which leads to an increase in the synthesis of androgens, enabling virilization of tissues. (medpagetoday.com)
In people with CAH due to 11-beta-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones. (medlineplus.gov)
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)
Additional adrenal androgens, including androstenedione and testosterone, were also markedly elevated. (chop.edu)
Adequate glucocorticoid replacement should prevent excessive concentrations of ACTH from stimulating the adrenal glands to produce abnormal concentrations of adrenal androgens that result in further virilization. (medscape.com)
a deficiency of cortisol with or without aldosterone deficiency and an excess of adrenal androgens such as testosterone. (effrx.com)
Both forms of adrenal hyperplasia are accompanied by elevated levels of 24-hour urinary 17-ketosteroids , the urinary metabolites of adrenal androgens. (medscape.com)
These reproductive glands-the testes in males and the ovaries in females, and, to a lesser extent, the suprarenal ( adrenal) glands -secrete androgens (including testosterone) and estrogens. (medscape.com)
Adrenal incidentalomas may be classified as functional or non-functional based on whether they produce hormones, such as aldosterone, cortisol, and androgens, or catecholamines. (upr.edu)
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 . (bvsalud.org)

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders marked by a deficiency of enzymes involved in producing cortisol and/or aldosterone. (medpagetoday.com)
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)
CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of all cases of congenital adrenal hyperplasia. (medlineplus.gov)
In all its forms, congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for about 95% of diagnosed cases of CAH. (t-vox.org)
Throughout life patients with CAH are prone to adrenal crisis due to their cortisol deficiency. (effrx.com)
In contrast, hypertensive forms of adrenal hyperplasia (ie, 11-beta-hydroxylase deficiency and 17-alpha-hydroxylase deficiency) are associated with suppressed PRA and, often, hypokalemia. (medscape.com)
Subtle forms of adrenal hyperplasia (as in nonclassic forms of 21-hydroxylase deficiency and nonclassic 3-beta-hydroxysteroid dehydrogenase deficiency) often require a synthetic corticotropin (Cortrosyn) stimulation test to demonstrate the abnormal accumulation of precursor steroids. (medscape.com)
Lipoid deposits in the adrenal cortical cells characterize lipoid adrenal hyperplasia due to a deficiency of StAR. (medscape.com)
In nonclassical CAH, there is a mild enzyme deficiency with normal cortisol and aldosterone levels, but there is a mild increase in adrenal androgen production. (unboundmedicine.com)
Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. (bvsalud.org)
To raise awareness of Cytochrome P450 Oxidoreductase Deficiency (PORD, a rare form of congenital adrenal hyperplasia (CAH), through a case of pregnant woman with virilization symptoms. (bvsalud.org)
21-hydroxylase deficiency congenital adrenal hyperplasia. (qxmd.com)
ABSTRACT The national neonatal screening programme in the United Arab Emirates currently includes 16 disorders: congenital hypothyroidism, sickle-cell diseases, congenital adrenal hyperplasia, biotinidase deficiency and 12 amino acid, organic acid and fatty acid disorders. (who.int)
The incidence of screened disorders were 1:1 873 for congenital hypothyroidism, 1:14 544 for phenylketonuria, 1:3 526 for amino acid, organic acid and fatty acid disorders, 1:9 030 for classical congenital adrenal hyperplasia, 1:8 300 for biotinidase deficiency, 1:2 384 for sickle-cell disease and 1:121 for sickle-cell traits. (who.int)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disease of the adrenal cortex characterized by cortisol deficiency with or without aldosterone deficiency, and androgen excess. (druglib.com)
Congenital adrenal hyperplasia (CAH) is a well-characterised family of disorders of the adrenal cortices, resulting in varying degrees of cortisol, aldosterone and androgen deficiency or androgen excess, depending on the enzyme(s) affected and the degree of quantitative or functional enzyme deficit. (nih.gov)
We report the case of a 57-year-old woman with non-classical adrenal hyperplasia due to both 3-β-ol dehydrogenase deficiency and aldosterone synthase deficiency who was self-treated with WS for 6 months. (nih.gov)

In subsequent years, newborn screening was expanded to include tests for hypothyroidism, galactosemia, hemoglobinopathy and congenital adrenal hyperplasia. (clinlabnavigator.com)
Why don't we hear much about children who are living with chronic conditions such as Asthma, Autism, Diabetes, Down syndrome, Congenital Heart Disease, Hypothyroidism, hearing loss and visual impairment in resource-poor countries from world leaders and policy makers? (clanchildhealth.org)
Further, in the United States, every new baby is now screened for congenital adrenal hyperplasia as well as congenital hypothyroidism. (mhmedical.com)

Inefficient cortisol production results in rising levels of ACTH, which in turn induces overgrowth (hyperplasia) and overactivity of the steroid-producing cells of the adrenal cortex. (t-vox.org)
Histologic features of congenital adrenal hyperplasia include hyperplasia of the adrenal cortex and disorganized architecture of both the adrenal cortices and medullae. (medscape.com)
21-Hydroxylase is one of the five enzymes involved in producing cortisol from cholesterol in the adrenal cortex. (unboundmedicine.com)
Without cortisol for negative feedback, increased ACTH is secreted by the pituitary, leading to hyperplasia of the adrenal cortex. (unboundmedicine.com)
Each has 2 parts: an outer covering, the adrenal cortex, and an inner core, the adrenal medulla. (medscape.com)
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)

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. (e-apem.org)
Congenital lipoid adrenal hyperplasia (lipoid CAH), the most fatal form of adrenal hyperplasia, seriously disrupts adrenal and gonadal steroidogenesis by a defect in the conversion of cholesterol to pregnenolone 1) . (e-apem.org)
Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR and characterized by a defect in steroidogenesis and lipid droplet accumulation in steroidogenic cells. (elsevier.com)

A comparative cost analysis of newborn screening for classic congenital adrenal hyperplasia in Texas. (cdc.gov)

Results were interpreted using the ACTH stimulation test nomogram, and L.M. plotted in the range of classical congenital adrenal hyperplasia. (chop.edu)

Hydrocortisone Suspensions Better For Children With Congenital Adrenal Hyperplasia? (medpagetoday.com)

Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland . (medlineplus.gov)
Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that involve the adrenal glands, a pair of small organs located above the kidneys. (hopkinsmedicine.org)
Congenital adrenal hyperplasia (CAH) describes a group of hereditary (inherited) genetic disorders affecting your adrenal glands. (hopkinsmedicine.org)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by a defect in one of the five enzymatic steps in the production of cortisol. (unboundmedicine.com)
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. (unibo.it)
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. (qxmd.com)
Acne is the most common disease of the skin and may be an important clue of an underlying types endocrine disorders such as polycystic ovarian syndrome (PCOS), Cushing syndrome, congenital adrenal hyperplasia (CAH) or an androgen-secreting tumor (see Fig 1). (nextstepsinderm.com)

The classic and nonclassic concenital adrenal hyperplasias. (qxmd.com)
Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update. (qxmd.com)

Prenatal diagnosis is available for some forms of congenital adrenal hyperplasia. (medlineplus.gov)
Patients with congenital adrenal hyperplasia (CAH) in developing countries have limited access to appropriate laboratory facilities for diagnosis and follow-up. (medscape.com)
The diagnosis of congenital adrenal hyperplasia depends on the demonstration of inadequate production of cortisol, aldosterone, or both in the presence of accumulation of excess concentrations of precursor hormones. (medscape.com)
Genetic testing is rarely necessary to diagnose classic forms of adrenal hyperplasia but is essential for genetic counseling and prenatal diagnosis of adrenal hyperplasia. (medscape.com)
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. (qxmd.com)
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)
In conclusion, even without evidence of extra-adrenal tuberculosis, a diagnosis of bilateral adrenal tuberculosis is required. (bioscientifica.com)
A histopathological examination has a significant role along with clinical judgement and hormonal workup in establishing a definitive diagnosis of adrenal tuberculosis without evidence of active extra-adrenal involvement. (bioscientifica.com)
The right adrenal mass was resected during open laparotomy and the pathohistological examination revealed the diagnosis of an adrenal lipoma. (bioscientifica.com)

The efficacy of glucocorticoid therapy can be assessed with disease-related endpoints, including adrenal androgen levels in CAH. (nature.com)
Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. (e-apem.org)
In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess. (qxmd.com)
People with CAH do not make enough of the adrenal hormones cortisol and aldosterone, and their adrenal glands make too much of the sex hormone androgen. (druglib.com)
In this paper gender re-reassignment in a case of 46 XX congenital adrenal hypetplasia with former feminizing genitoplasty has been discussed in terms of the reasons, such as the degree of virilization, gender of rearing, timing of the genitoplasty and androgen excess, behind maladaptation to female gender along with similar cases from the literature. (kocaeli.edu.tr)

When diagnosed in infancy or early childhood, patients with the classic and most severe form of congenital adrenal hyperplasia may present with ambiguous genitalia (girls), an enlarged penis (boys), weight loss or difficulty gaining weight, dehydration and vomiting. (adventhealth.com)
Patients with the salt losing disorder have severe cortisol and aldosterone deficiencies that result in adrenal crisis during the second week of life. (clinlabnavigator.com)
Patients with the non-salt losing form have sufficient mineralocorticoid production to avoid adrenal crisis and usually present with ambiguous genitalia. (clinlabnavigator.com)
Patients with salt-wasting forms of adrenal hyperplasia do not need potassium supplementation because they are usually hyperkalemic. (medscape.com)
Eight patients (7 females, 1 male) with congenital adrenal hyperplasia (CAH), were seen over a 24-month period beginning from March 1988. (who.int)
Imaging studies of the adrenal gland are generally not useful in the evaluation of patients with suspected adrenal hyperplasia. (medscape.com)
However, CT scanning of the adrenal gland can be useful in excluding bilateral adrenal hemorrhage in patients with signs of acute adrenal failure without ambiguous genitalia or other clues of adrenal hyperplasia. (medscape.com)
Patients who have these symptoms because of adrenal hyperplasia have advanced skeletal maturation. (medscape.com)
Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and belonging to 10 unrelated families. (fertstertdialog.com)
In the article the data on the distribution of CYP21A2 gene mutations (gene deletion/conversion, c.290-13C>A/G, E110Vfs, I172N, cluster of mutations I236N, V237E, M239K, V281L, Q318X, R356W) among Ukrainian patients with congenital adrenal hyperplasia of different clinical phenotypes are presented. (cytgen.com)
Analysis of CYP21A2 gene mutations in patients from Ukraine with congenital adrenal hyperplasia, Cytol Genet . (cytgen.com)
This study will test a new, extended release form of hydrocortisone called Chronocort in patients with congenital adrenal hyperplasia (CAH). (druglib.com)
In patients with congenital adrenal hyperplasia (CAH), adrenocorticotropic hormone (ACTH) levels tend to be elevated due to the lack of adrenal-hormone production. (upr.edu)
Patients with CAHs are treated with steroids that suppress ACTH levels and prevent adrenal gland hyperplasia. (upr.edu)
These lesions, occasionally misdiagnosed as Leydig cell tumors (LCTs), are typically described in patients with congenital adrenal hyperplasia (CAH). (hunimed.eu)
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)

Decreased cortisol synthesis leads to elevated ACTH levels, which produces adrenal hyperplasia. (clinlabnavigator.com)
Adrenal cortical tumors are thought to be secondary to higher levels of ACTH. (unboundmedicine.com)
Testicular adrenal rest tumors (TARTs) are benign masses deemed to originate from pluripotent testicular steroidogenic cells that grow under chronic ACTH stimulation. (hunimed.eu)

Salt-wasting forms of adrenal hyperplasia are accompanied by low serum aldosterone concentrations, hyponatremia (see Serum Sodium ), hyperkalemia (see Potassium ), and elevated plasma renin activity (PRA), indicating hypovolemia. (medscape.com)

People with congenital adrenal hyperplasia lack an enzyme the adrenal glands need to make the hormones. (medlineplus.gov)
Steroids used to treat congenital adrenal hyperplasia do not usually cause side effects such as obesity or weak bones, because the doses replace the hormones that the child's body cannot make. (medlineplus.gov)
The adrenal gland needs 21-hydroxylase to make appropriate amounts of hormones. (hopkinsmedicine.org)
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)
Congenital adrenal hyperplasia refers to a collection of genetic conditions that limit the adrenal glands' ability to produce essential hormones, especially cortisol. (adventhealth.com)
Congenital adrenal hyperplasia (CAH) is the commonest inherited (congenital) endocrine (hormone) disorder caused by mutations in genes coding for enzymes in the adrenal gland that synthesis steroid hormones. (effrx.com)
CAH results from mutations in the genes that code for enzymes that make steroid hormones in the adrenal gland. (effrx.com)

A newborn screening test is available for the most common form of congenital adrenal hyperplasia. (medlineplus.gov)
Newborn screening for congenital adrenal hyperplasia (CAH) is limited because of high rates of false-positive values. (endocrinologyadvisor.com)
Combined gestational age- and birth weight-adjusted cutoffs for newborn screening of congenital adrenal hyperplasia [published online March 13, 2019]. (endocrinologyadvisor.com)
This test checks for Congenital Adrenal Hyperplasia in the newborn using 17-OHP as the marker analyte. (metropolisindia.com)

Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. (qxmd.com)

abstract = "Therapy of congenital adrenal hyperplasia transidtionally is monitored by the amount of urinary 17-KS. (utmb.edu)
ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)

Adrenal incidentalomas are tumors located in the adrenal glands and found on imaging done for purposes not related to adrenal disease. (upr.edu)

Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. (bvsalud.org)

In addition to blood tests, screening for hearing loss and critical congenital heart disease (CCHD) is recommended for all newborns. (limamemorial.org)

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)

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from defects in steps of the synthesis of cortisol from cholesterol by the adrenal glands. (t-vox.org)
In other cases adrenal mases can be radiologically found when an adrenal hormone secreting tumor is suspected, such as a pheochromocytoma or Cushing's diseases. (upr.edu)
Triamcinolone is also effective in congenital adrenal hyperplasia of cerebral edema and rheumatic diseases. (firedrug.com)

Apart from adrenal myelolipomas, adrenal lipomatous tumors are rare and only seldom described in the literature. (bioscientifica.com)

Dr. Mark Sloan , a pediatrician based in northern California, has written a very helpful overview of a controversial fetal engineering intervention: prenatal dexamethasone for pregnant women considered at risk of giving birth to a daughter with congenital adrenal hyperplasia (CAH). (ourbodiesourselves.org)

Nadas criteria Presence of 1 major or 2 minor criteria indicate very high probability of a congenital heart disease. (mediconotebook.com)

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)

Both males and females with CAH may have infertility or adrenal crisis (only in classic form). (hopkinsmedicine.org)
Symptoms of adrenal crisis, a life-threatening condition associated with CAH, may include vomiting, diarrhea, a drop in blood pressure and a drop in blood sugar. (hopkinsmedicine.org)
In addition, it may lead to "adrenal crisis" - a medical emergency that needs immediate treatment. (hopkinsmedicine.org)
Call 911 or seek medical care immediately if you or a loved one is experiencing symptoms of adrenal crisis. (hopkinsmedicine.org)
The adrenal crisis often happens when people with CAH are sick, have a fever or an infection, undergo surgery or stop their medications. (hopkinsmedicine.org)
The patient presented to the emergency room with acute adrenal crisis and a 3-day history of nausea, vomiting, epigastric pain, and diarrhoea with a background of 6 months of fatigue, weight loss, and anorexia. (bioscientifica.com)

Glucocorticoid replacement therapy is the mainstay of treatment for congenital adrenal hyperplasia (CAH) but has a narrow therapeutic index and dose optimisation is challenging. (nature.com)

Abdominal CT revealed bilateral adrenal masses. (bioscientifica.com)
This is the first report of a bilateral adrenal lipoma in a patient with CAH that we are aware of. (bioscientifica.com)

Congenital Adrenal Hyperplasia is a topic covered in the 5-Minute Clinical Consult . (unboundmedicine.com)
Clinical and molecular review of atypical congenital adrenal hyperplasia. (qxmd.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. (elsevier.com)

Masculinized finger length patterns in human males and females with congenital adrenal hyperplasia. (bvsalud.org)

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We present the case of a 50-year-old man, with a classical form of congenital adrenal hyperplasia (CAH), which was well treated with prednisolone and fludrocortisone. (bioscientifica.com)

Impact of molecular genetics on congenital adrenal hyperplasia management. (unibo.it)

RÉSUMÉ Le programme national de dépistage néonatal aux Émirats arabes unis couvre actuellement 16 maladies ou troubles : l'hyperthyroïdie congénitale, la drépanocytose, l'hyperplasie congénitale des surrénales, le déficit en biotinidase ainsi que 12 troubles des acides aminés, organiques et gras. (who.int)

19 ng/mL), raising suspicion for congenital adrenal hyperplasia (CAH), and she came under the care of CHOP's Adrenal and Puberty Center . (chop.edu)

At chronic doses that suppress adrenal function, may ↓ antibody response to and ↑ risk of adverse reactions from live-virus vaccines . (drugguide.com)

Parents with a family history of congenital adrenal hyperplasia (of any type) or a child who has the condition should consider genetic counseling. (medlineplus.gov)

Symptoms will vary, depending on the type of congenital adrenal hyperplasia someone has, and their age when the disorder is diagnosed. (medlineplus.gov)

Anatomy5

Diseases30

Chemicals and Drugs32

Analytical, Diagnostic and Therapeutic Techniques and Equipment12

Psychiatry and Psychology2

Phenomena and Processes8

Named Groups2

Health Care1

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

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

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

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)

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)

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)

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

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

Adrenal Hyperplasia, Congenital

Steroid 21-Hydroxylase

Hyperplasia

Adrenal Glands

17-alpha-Hydroxyprogesterone

Adrenal Gland Diseases

Adrenocortical Hyperfunction

Pregnanetriol

Fludrocortisone

Hydroxyprogesterones

Adrenal Cortex

Adrenal Rest Tumor

Adrenal Gland Neoplasms

Virilism

Cushing Syndrome

Adrenocorticotropic Hormone

Adrenal Insufficiency

Adrenal Cortex Neoplasms

Adrenal Medulla

Cortodoxone

17-Ketosteroids

Adrenal Cortex Diseases

Hydrocortisone

Adrenalectomy

Mineralocorticoids

Hirsutism

Steroid 11-beta-Hydroxylase

46, XY Disorders of Sex Development

Hyperaldosteronism

Prostatic Hyperplasia

17-alpha-Hydroxypregnenolone

Endometrial Hyperplasia

Adrenocortical Adenoma

Antley-Bixler Syndrome Phenotype

Cosyntropin

Age Determination by Skeleton

Gonadal Dysgenesis, 46,XX

Neonatal Screening

Glucocorticoids

Disorders of Sex Development

Androstenedione

Aldosterone

Puberty, Precocious

Sexual Infantilism

Adenoma

Steroid Hydroxylases

Reproductive Physiological Phenomena

Androgens

Dexamethasone

Gonadal Dysgenesis, 46,XY

Infant, Newborn

Dehydroepiandrosterone

Hypokalemia

Adrenal Cortex Hormones

Gingival Hyperplasia

Puberty

Thymus Hyperplasia

Steroids

Focal Nodular Hyperplasia

Prenatal Diagnosis

Infant, Postmature

Genitalia

Testosterone

Obstetric Surgical Procedures

Mutation

Urogenital Abnormalities

Paraneoplastic Endocrine Syndromes

Cholesterol Side-Chain Cleavage Enzyme

3-Hydroxysteroid Dehydrogenases

Receptors, Gastrointestinal Hormone

Receptors, Vasopressin

Renin

Body Height

Tunica Intima

Complement C4

Hormone Replacement Therapy

Radioimmunoassay

Frameshift Mutation

Heterozygote Detection

Pseudogenes