Adrenal Hyperplasia, Congenital: 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.Steroid 21-Hydroxylase: 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).Hyperplasia: 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.Adrenal Glands: 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.17-alpha-Hydroxyprogesterone: 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.Adrenal Gland Diseases: Pathological processes of the ADRENAL GLANDS.Adrenocortical Hyperfunction: Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM.Pregnanetriol: 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.Fludrocortisone: A synthetic mineralocorticoid with anti-inflammatory activity.Hydroxyprogesterones: Metabolites or derivatives of PROGESTERONE with hydroxyl group substitution at various sites.Adrenal Cortex: 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.Adrenal Rest Tumor: 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.Adrenal Gland Neoplasms: Tumors or cancer of the ADRENAL GLANDS.Virilism: 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.Cushing Syndrome: 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.Adrenocorticotropic Hormone: 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).Adrenal Insufficiency: 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.Adrenal Cortex Neoplasms: Tumors or cancers of the ADRENAL CORTEX.Adrenal Medulla: 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.Cortodoxone: 17,21-Dihydroxypregn-4-ene-3,20-dione. A 17-hydroxycorticosteroid with glucocorticoid and anti-inflammatory activities.Adrenal Cortex Diseases: Pathological processes of the ADRENAL CORTEX.Hydrocortisone: 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.Adrenalectomy: Excision of one or both adrenal glands. (From Dorland, 28th ed)Mineralocorticoids: 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.Hirsutism: 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.Steroid 11-beta-Hydroxylase: 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).46, XY Disorders of Sex Development: Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.Hyperaldosteronism: A condition caused by the overproduction of ALDOSTERONE. It is characterized by sodium retention and potassium excretion with resultant HYPERTENSION and HYPOKALEMIA.Prostatic Hyperplasia: 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.17-alpha-Hydroxypregnenolone: 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.Adrenocortical Adenoma: 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.Antley-Bixler Syndrome Phenotype: 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).Cosyntropin: 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.Age Determination by Skeleton: Establishment of the age of an individual by examination of their skeletal structure.Gonadal Dysgenesis, 46,XX: 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.Neonatal Screening: 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.Glucocorticoids: 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.Disorders of Sex Development: 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.Androstenedione: 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.Aldosterone: 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.Puberty, Precocious: 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.Sexual Infantilism: The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY.Adenoma: A benign epithelial tumor with a glandular organization.Steroid Hydroxylases: Cytochrome P-450 monooxygenases (MIXED FUNCTION OXYGENASES) that are important in steroid biosynthesis and metabolism.Reproductive Physiological Phenomena: Physiological processes, factors, properties and characteristics pertaining to REPRODUCTION.Androgens: 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.Dexamethasone: An anti-inflammatory 9-fluoro-glucocorticoid.Gonadal Dysgenesis, 46,XY: 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.Infant, Newborn: An infant during the first month after birth.Dehydroepiandrosterone: 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.Hypokalemia: Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)Adrenal Cortex HormonesGingival Hyperplasia: 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)Puberty: 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.Thymus Hyperplasia: 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)Steroids: 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)Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Infant, Postmature: An infant born at or after 42 weeks of gestation.Genitalia: The external and internal organs related to reproduction.Testosterone: 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.Obstetric Surgical Procedures: Surgery performed on the pregnant woman for conditions associated with pregnancy, labor, or the puerperium. It does not include surgery of the newborn infant.Mutation: 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.Urogenital Abnormalities: Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.Paraneoplastic Endocrine Syndromes: 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.Cholesterol Side-Chain Cleavage Enzyme: 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.3-Hydroxysteroid Dehydrogenases: Catalyze the oxidation of 3-hydroxysteroids to 3-ketosteroids.Receptors, Gastrointestinal Hormone: 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.Receptors, Vasopressin: 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.Renin: 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.Body Height: The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.Tunica Intima: The innermost layer of an artery or vein, made up of one layer of endothelial cells and supported by an internal elastic lamina.Complement C4: 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.Hormone Replacement Therapy: Therapeutic use of hormones to alleviate the effects of hormone deficiency.Radioimmunoassay: 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.Frameshift Mutation: 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.Heterozygote Detection: Identification of genetic carriers for a given trait.Pseudogenes: 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.Cortisone: 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)Adrenal Cortex Function Tests: Examinations that evaluate and monitor hormone production in the adrenal cortex.Pedigree: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Catecholamines: A general class of ortho-dihydroxyphenylalkylamines derived from tyrosine.Gastric Inhibitory Polypeptide: A gastrointestinal peptide hormone of about 43-amino acids. It is found to be a potent stimulator of INSULIN secretion and a relatively poor inhibitor of GASTRIC ACID secretion.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

*Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Congenital Adrenal Hyperplasia Guide to Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency for parents or patients ... 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ... Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been associated with testicular adrenal rest ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ...

*Development of the endocrine system

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 ...

*Progestin-induced virilisation

... resulting in congenital adrenal hyperplasia (CAH); fetal masculinization of female external genitalia is much less frequently ... Fetal masculinization of female external genitalia is usually due to enzyme abnormalities involved in adrenal steroid ... ISBN 0-7216-0376-9. Schardein JL (1980). "Congenital abnormalities and hormones during pregnancy: a clinical review". ...

*Congenital adrenal hyperplasia due to 11β-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 ...

*Lipoid 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 ... Congenital adrenal hyperplasias are a family of autosomal recessive diseases resulting from defects in steps of the synthesis ... "Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late ...

*Congenital adrenal hyperplasia

... (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for ... glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve ...

*Congenital adrenal hyperplasia due to 17α-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 ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Isolated 17,20-lyase deficiency Disorders of sexual ... Online Mendelian Inheritance in Man (OMIM) ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY -202110 ...

*Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency

... is an uncommon form of congenital adrenal ... Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... 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, P Stewart, Chapter 14, Section IV, Williams Textbook of Endocrinology, 11th edition, Elsevier, ...

*DMOZ - Health: Conditions and Diseases: Sex-Development Disorders: Intersex: Congenital Adrenal Hyperplasia

An inherited condition that affects the adrenal glands. These glands are located on top of the kidneys and produce three types ... Congenital Adrenal Hyperplasia.org An education and support network for people and families with Congenital Adrenal Hyperplasia ... "Health ... Congenital Adrenal Hyperplasia" search on: AOL - Ask - Bing - DuckDuckGo - Gigablast - Google - ixquick - Yahoo - ... Patient: Congenital Adrenal Hyperplasia Factsheet on this autosomal recessive disorders of cortisol biosynthesis, its ...

*Steroid

For example, in one form of congenital adrenal hyperplasia an 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". Int J Pediatr Endocrinol. 2010: 625105. doi:10.1155/ ... Adrenal steroidogenesis pathway. Greep, Roy O., ed. (22 October 2013). "Cortoic acids". Recent Progress in Hormone Research: ...

*Stefan R. Bornstein

2005). Congenital adrenal hyperplasia. In: Lancet. doi: 10.1016/S0140-6736(05)66736-0 F. Sicard, M. Ehrhart-Bornstein, D. ... Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In: Annals of ... Human adrenal cells express TNFα-mRNA: Evidence for a paracrine control of adrenal function 1995: „Einfach genial Preis" of the ... Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal ...

*Hyperaldosteronism

Also see congenital adrenal hyperplasia. Adrenal carcinoma is an extremely rare cause of primary hyperaldosteronism. Two ... Bilateral micronodular hyperplasia is more common than unilateral adrenal adenoma. Play media It can be asymptomatic, but these ... However, recent studies have shown that bilateral idiopathic adrenal hyperplasia is the cause in up to 70% of cases. ... Polyuria Polydipsia Tingling Metabolic alkalosis The causes of primary hyperaldosteronism are adrenal hyperplasia and adrenal ...

*Clitoromegaly

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 ...

*17α-Hydroxypregnenolone

... while in patients with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency levels are low to absent. Congenital ... In patients with congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency 17α-hydroxypregnenolone is ... Measurements of 17α-hydroxypregnenolone are useful in the diagnosis of certain forms of congenital adrenal hyperplasia. ... adrenal hyperplasia Steroidogenesis Hill, M; Lukác, D; Lapcík, O; Sulcová, J; Hampl, R; Pouzar, V; Stárka, L (1999). "Age ...

*Delayed puberty

Various forms of congenital adrenal hyperplasia. Gonadotropin deficiency, resulting from a number of congenital and acquired ...

*Cholesterol side-chain cleavage enzyme

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. Steroidogenic ... 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 ...

*List of disorders included in newborn screening programs

1 in 75,000 Congenital adrenal hyperplasia (CAH) > 1 in 25,000 Classical galactosemia (GALT) > 1 in 50,000 Severe combined ... Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians ... 1 in 5,000 Critical congenital heart defects (Screened using pulse oximetry) The following disorders are additional conditions ... 1 in 5,000 Congenital hypothyroidism (CH) > 1 in 5,000 Biotinidase deficiency (BIOT) > ...

*Fuller Albright

He also delineated forms of congenital adrenal hyperplasia. In 1941 Albright was elected a Fellow of the American Academy of ... Schwartz TB (1995). "How to learn from patients: Fuller Albright's exploration of adrenal function". Ann. Intern. Med. 123 (3 ...

*Frederic Bartter

Significant observations were made in congenital adrenal hyperplasia. From 1951 to 1978 Bartter served as Chief of the National ... Bartter FC, Pronove P, Gill JR Jr, MacCardle RC (1962). "Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and ... Reproduced in Bartter FC, Pronove P, Gill JR, MacCardle RC (1998). "Hyperplasia of the juxtaglomerular complex with ... Particular interests were calcium metabolism, the hypothalamic-pituitary-adrenal axis, blood volume and electrolyte physiology ...

*Prader scale

It primarily relates to virilization of the female genitalia in cases of congenital adrenal hyperplasia (CAH) and identifies ... "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245-91. doi:10.1210/er.21.3.245. PMID ...

*Polycystic ovary syndrome

New MI (1993). "Nonclassical congenital adrenal hyperplasia and the polycystic ovarian syndrome". Ann. N. Y. Acad. Sci. 687: ... Other causes of irregular or absent menstruation and hirsutism, such as hypothyroidism, congenital adrenal hyperplasia (21- ... Other conditions that produce similar symptoms include adrenal hyperplasia, hypothyroidism, and hyperprolactinemia. PCOS has no ... A diagnosis of PCOS suggests an increased risk of the following: Endometrial hyperplasia and endometrial cancer (cancer of the ...

*Walter L. Miller (endocrinologist)

In studies of the common form of congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency, Miller's group ... Miller, Walter L; Witchel, Selma Feldman (2013). "Prenatal treatment of congenital adrenal hyperplasia: Risks outweigh benefits ... congenital adrenal hyperplasia, pseudo vitamin D dependent rickets, severe, recessive form of Ehlers-Danlos syndrome, 17,20 ... thus describing a new form of congenital adrenal hyperplasia. In a large follow-up study they showed that both POR deficiency ...

*Steroid hormone

"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 ... PMID 24342885Figure 2: The adrenal steroidogenesis pathway. An animated and narrated tutorial about nuclear receptor signaling ...

*List of OMIM disorder codes

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; ...

*Glucocorticoid deficiency 1

... with similarity to the nonclassic form of lipoid congenital adrenal hyperplasia. In this case, a general impairment in not just ... "Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency". J. Clin. Endocrinol. ... is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels ... adrenal steroid production, but gonadal steroid production can affect sexual development and fertility. The causes of other ...

*Nonsteroidal antiandrogen

... 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 incidences of elevated ... It was under development as an oral medication for the treatment of benign prostatic hyperplasia and as a topical medication ...

*Abdul Gaffar Billoo

Profile of children with congenital adrenal hyperplasia-a hospital study. Retrieved, US National Library of Medicine National ... Profile of children with congenital adrenal hyperplasia-a hospital study. Impact of socioeconomic conditions on perinatal ...
Congenital Adrenal Hyperplasia - MedHelps Congenital Adrenal Hyperplasia Center for Information, Symptoms, Resources, Treatments and Tools for Congenital Adrenal Hyperplasia. Find Congenital Adrenal Hyperplasia information, treatments for Congenital Adrenal Hyperplasia and Congenital Adrenal Hyperplasia symptoms.
Define Congenital adrenal hyperplasia type 1. Congenital adrenal hyperplasia type 1 synonyms, Congenital adrenal hyperplasia type 1 pronunciation, Congenital adrenal hyperplasia type 1 translation, English dictionary definition of Congenital adrenal hyperplasia type 1. n. Any of a group of genetic disorders characterized by an enzyme deficiency that leads to insufficient production of cortisol and often aldosterone by the...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts for over 95% of diagnosed cases of congenital adrenal hyperplasia, and "CAH" in most contexts refers to 21-hydroxylase deficiency. An overview of the other types of CAH is presented in the main article. The condition can be classified into "salt-wasting", "simple virilizing", and "non-classical" forms. The salt-wasting and simple virilizing types are sometimes grouped together as "classical". The CYP21A2 gene for the P450c21 enzyme (also known as 21-hydroxylase) is at 6p21.3, amid genes HLA B and HLA DR coding for the major human histocompatibility loci (HLA). CYP21A2 is paired with a nonfunctional pseudogene CYP21A1P. Scores of abnormal alleles of CYP21A2 have been documented, most arising from recombinations of homologous regions of CYP21A2 and CYP21A1P. Differences in residual enzyme activity of the various alleles account for the various degrees of severity of the disease. Inheritance of ...
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal amount of androgen, resulting from a defect in the gene encoding the enzyme steroid 11β-hydroxylase which mediates the final step of cortisol synthesis in the adrenal. 11β-OH CAH results in hypertension due to excessive mineralocorticoid effects. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex. Mineralocorticoid manifestations of severe 11β-hydroxylase deficient CAH can be biphasic, changing from deficiency (salt-wasting) in early infancy to excess (hypertension) in childhood and adult life. Salt-wasting in early infancy does not occur in most cases of 11β-OH CAH but can occur because of impaired production of aldosterone aggravated by inefficiency of salt conservation in early infancy. When it occurs it resembles the salt-wasting of severe ...
This study was developed to determine if a combination of four drugs (flutamide, testolactone, reduced hydrocortisone dose, and fludrocortisone) can normalize growth in children with congenital adrenal hyperplasia.. The study will take 60 children, boys and girls and divide them into 2 groups based on the medications given. Group one will receive the new four- drug combination. Group two will receive the standard treatment for congenital adrenal hyperplasia (hydrocortisone and fludrocortisone).. The boys in group one will take the medication until the age of 14 at which time they will stop taking the four drug combination and begin receiving the standard treatment for congenital adrenal hyperplasia. Girls in group one will take the four drug combination until the age of 13, at which time they will stop and begin receiving the standard treatment for congenital adrenal hyperplasia plus flutamide. Flutamide will be given to the girls until six months after their first menstrual period.. All of the ...
Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol accounts for more than 90 percent of cases of congenital adrenal hyperplasia (CAH). This conversion is mediated by 21-hydroxylase, the enzyme encoded by theCYP21A2gene.Patients with c
Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol accounts for more than 95 percent of cases of congenital adrenal hyperplasia. This conversion is mediated by 21-hydroxylase, deficiency of which is caused by mutations in the CYP21A2
TY - JOUR. T1 - Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their childhood and adolescence. AU - Meyer-Bahlburg, Heino F.L.. AU - Khuri, Jananne. AU - Reyes-Portillo, Jazmin. AU - New, Maria I.. PY - 2017/1/1. Y1 - 2017/1/1. N2 - Objectives To perform a qualitative study of stigma experienced in medical settings by children and adolescents with congenital genital ambiguity (CGA). Methods 62 women with classical congenital adrenal hyperplasia (CAH) of variable severity took part in a qualitative retrospective interview that focused on the impact of CAH and its medical treatment, with an emphasis on childhood and adolescence. Categorization of stigmatization was based on deductive content analysis of the interview transcripts. Results Many women recalled experiencing the genital examinations in childhood and adolescence as adverse, stigmatizing events, leading to avoidance reactions and self-perception as abnormal, particularly ...
In some infant girls who have ambiguous genitalia, reconstructive surgery may be required to correct the appearance and function of the genitals, a procedure that may involve reducing the size of the clitoris and reconstructing the vaginal opening. The Komansky Center for Childrens Health at NewYork-Presbyterian Hospital/Weill Cornell Medical Center is one of the worlds major referral centers for genital reconstructive surgery. Dr. Poppas has performed over 100 of these complex surgeries. Earlier this year, he was honored by the CARES (Congenital Adrenal Hyperplasia Research Education and Support) Foundation as the first recipient of its Visionary Award for his contributions and commitment to CARES and the congenital adrenal hyperplasia community. CARES Foundation is a national nonprofit organization committed to improving the lives of families and individuals affected by congenital adrenal hyperplasia. A member of CARES Scientific and Advisory Board, Dr. Poppas has performed genital ...
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Our data clearly showed an increased risk of obesity among children and adolescents with classic CAH due to 21-hydroxylase deficiency, compared with the German reference population. Current data on obesity ascertained at Bavarian school entry examinations revealed a slightly increased prevalence for obesity (2.9%, compared with the expected value of 2.3%)22 but complied with British reference values.23 Because current German references,14 published several years later, showed a markedly higher 97th percentile, in comparison with British children, we presume that the difference in prevalence of 0.6% is not significant. Therefore, our observations regarding an increased rate of obesity in CAH do not simply reflect the general trend toward higher BMI values in industrialized countries.. In the late 1980s, Knorr and Hinrichsen-de-Lienau3 reported an increased rate of obese patients with CAH among those who were treated inadequately with high glucocorticoid dosages (expressed as hydrocortisone ...
Congenital Adrenal Hyperplasia in males (CAH), symptoms, causes and treatment of Congenital Adrenal Hyperplasia, parents should always get themselves treated in all manner of conditions before going ahead to bear children.
Award in Recognition of Work with CAH Patients, Contributions to CAH Research and Quality Patient Care, 2011; USPHS Outstanding Service Medal for Conducting Outstanding Clinical Research and Building an Internationally Renowned Research Program to Further Understanding of Congenital Adrenal Hyperplasia, 2010; Congenital Adrenal Hyperplasia Research, Education and Support Foundation, Inc. grant in support of research in the area of congenital adrenal hyperplasia, 2005 - 2009; NIH Fellows Award for Research Excellence, 1997; NIH Clinical Research Loan Repayment and Scholarship Award, 1996; Dr. Louis Sklarow Memorial Award for outstanding graduate in medicine, SUNY at Buffalo, 1991; Alpha Omega Alpha Society. Selected Publications. BOOKS AND BOOK CHAPTERS. Charmandari E, Chrousos GP, Merke DP. Classic congenital adrenal hyperplasia. In: Adrenal Glands: diagnostic aspects and surgical therapy, Chapter 10, pp 101-114. Linos DA, VanHeerden JA, eds., Springer-Verlag, Germany 2005.. Merke DP, Cutler GB. ...
CAH21 : Preferred screening test for congenital adrenal hyperplasia (CAH) that is caused by 21-hydroxylase deficiency   Part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH
Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease. Long-term treatment, in particular the chronic (over-)treatment with glucocorticoids, may have an adverse effect on the cardiovascular risk profile in adult CAH patients. The objective of this study was to evaluate the cardiovascular risk profile of adult CAH patients.. DESIGN: Case control study Primary objective : detection of cardiovascular damage in patients with classical or non classical CAH diagnosed in childhood. The patients will be compared with age- and gender- and tobacco status- matched control.. Secondary objective Study of microvascular function Evaluation of cardiovascular risk factors Total cumulative (TCG) and total average (TAG) glucocorticoid doses will be calculated from pediatric and adult files and correlated to arterial macro- and microcirculatory dysfunction.. Primary outcome Ultrasound evaluation of intima-media thickness at ...
21-hydroxylase deficiency (also known as congenital adrenal hyperplasia) is an inherited disorder that affects the adrenal glands. These glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. Two of these hormones, cortisol and aldosterone, are produced from cholesterol through the activity of an enzyme called 21-hydroxylase. Cortisol has numerous functions such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. Aldosterone, sometimes called the salt-retaining hormone, acts on the kidneys to regulate the levels of salt and water in the body, which affects blood pressure. People with 21-hydroxylase deficiency have a shortage of the 21-hydroxylase enzyme, which impairs the conversion of cholesterol to cortisol and aldosterone. When the precursors of cortisol and aldosterone build up in the adrenal glands, they are converted to male sex hormones called androgens. Androgens are ...
The majority of congenital adrenal hyperplasia (CAH) cases arise from mutations in the steroid 21-hydroxylase (CYP21) gene. Without reliance on HLA gene linkage analysis, we have developed primers for differential polymerase chain reaction (PCR) amplification of the CYP21 gene and the non-functional CYP21P gene. Using the amplification created restriction site (ACRS) approach for direct mutational detection, a secondary PCR was then performed using a panel of primers specific for each of the 11 known mutations associated with CAH. Subsequent restriction analysis allowed not only the detection but also the determination of the zygosity of the mutations analysed. Existing deletion of the CYP21 gene could also be detected. In the analysis of 20 independent chromosomes in 11 families of CAH patients in Taiwan, four CYP21 mutation types, besides deletion, were detected. Interestingly, in five different alleles, the CYP21P pseudogene contained some polymorphisms generally associated with the CYP21 ...
The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis ...
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Congenital adrenal hyperplasia (CAH) is caused by the genetic impairment of one of the five enzymes required for the biosynthesis of cortisol from cholesterol. In 95% of cases 21-hydroxylase deficiency (21-OHD) is responsible for the disease (1). Classic 21-OHD has an incidence varying from 1:11 800 to 1:21 800, depending on the population background. The pathophysiology, clinical picture, genetics, and the unique aspects of management from the point of view of the paediatric endocrinologist are addressed, and the problems encountered from birth to puberty are described. The child specific issues of rare forms of CAH are summarized thereafter. The reader is referred to Chapter 5.11 for a comprehensive overview of 21-OHD and for more details on all other forms of CAH.. ...
Congenital adrenal hyperplasia (CAH), also known as the "adrenogenital syndrome," is an uncommon condition caused by a congenital defect in one of several enzymes that take part in the chain of reactions whereby cortisol is manufactured from its precursors. There are at least six fairly well-defined variants of CAH that result from the various enzyme defects. The most common of these are types I and II, which are due to C21-hydroxylase enzyme deficiency. All CAH variants are inherited as autosomal recessive traits. The clinical and laboratory findings depend on which metabolic pathway-and which precursor in the metabolic pathway- is affected. All variants affect the glucocorticoid (cortisol) pathway in some manner. In CAH due to 21-hydroxylase defect (types I and II) and in CAH type III, although formation of cortisone and cortisol is blocked, the precursors of these glucocorticoids are still being manufactured. Most of the early precursors of cortisone are estrogenic compounds, which also are ...
I will be competing in the Mozart 100 race in Salzburg on June 20th. 100km in the mountains where they filmed the Sound of Music! I am raising money for the CARES Foundation, an organisation that helps those living with Congenital Adrenal Hyperplasia (CAH). CAH is a family of inherited disorders affecting the adrenal glands. Classical CAH must be detected at birth to avoid an adrenal crisis, which can lead to death. Once detected, CAH can fortunately be managed with medication and, with adequate care, affected individuals go on to live normal lives. My family has been personally affected by CAH, with my daughter having been born in a country where screening at birth is not done. Through my running I aim to build crucial awareness, and fundraise for a fantastic organisation doing CAH research and support worldwide. All donations through this site go directly to the CARES Foundation.
Results: Predominant findings in females were incomplete pubertal development (four of five) and large ovarian cysts (five of five) prone to spontaneous rupture, in some only resolving after combined treatment with estrogen/progestin, GnRH superagonists, and glucocorticoids. Pubertal development in the two boys was more mildly affected, with some spontaneous progression. Urinary steroid profiling revealed combined CYP17A1 and CYP21A2 deficiencies indicative of ORD in all patients; all but one failed to mount an appropriate cortisol response to ACTH stimulation indicative of adrenal insufficiency. Diagnosis of ORD was confirmed by direct sequencing, demonstrating disease-causing POR mutations ...
Doctors at Hassenfeld Childrens Hospital at NYU Langone diagnose classic and nonclassic types of congenital adrenal hyperplasia in children. Read more.
Congenital adrenal hyperplasia (CAH) is a group of rare inherited autosomal recessive disorders characterized by a deficiency of one of the enzymes needed to make specific hormones. CAH effects the adrenal glands located at the top of each kidney. Normally, the adrenal glands are responsible for producing three...
Learn about Congenital Adrenal Hyperplasia (CAH) symptoms and causes from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and...
The term congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. .
Patients with congenital adrenal hyperplasia (CAH) are at increased risk for cardiovascular disease due to many factors. The aim of this study is to investigate the presence of dyslipidemia, insulin r
Congenital Adrenal Hyperplasia causes a cortisol deficiency in infants, children and adolescents and can be treated by Pediatric Endocrine Associates
Doctors at Hassenfeld Children's Hospital at NYU Langone use a blood test to screen newborns for congenital adrenal hyperplasia. Learn more.
Learn more about Congenital Adrenal Hyperplasia at Chippenham Hospital DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
Learn more about Congenital Adrenal Hyperplasia at Regional Medical Center Bayonet Point DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
An education and support network for people and families with Congenital Adrenal Hyperplasia. Includes important medical links, FAQ, Message Board and Archives.
An education and support network for people and families with Congenital Adrenal Hyperplasia. Includes important medical links, FAQ, Message Board and Archives.
An education and support network for people and families with Congenital Adrenal Hyperplasia. Includes important medical links, FAQ, Message Board and Archives.
An education and support network for people and families with Congenital Adrenal Hyperplasia. Includes important medical links, FAQ, Message Board and Archives.
Learn more about Congenital Adrenal Hyperplasia at Medical City McKinney DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
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Another name for Adrenal Hyperplasia is Congenital Adrenal Hyperplasia. Treatment for congenital adrenal hyperplasia usually includes hormone therapy ...
Synonyms: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, Adrenal hyperplasia IV, Adrenal hyperplasia 4, Steroid 11-beta-hydroxylase deficiency, Adrenal hyperplasia hypertensive form, P450c11b1 deficiency, CAH due to 11-beta-hydroxylase deficiency, CYP11B1 deficiency ...
In infants with failure to thrive, salt wasting and (most obviously in baby girls with clitoromegaly, fused labia, and a persistent urogenital sinus) congenital adrenal hyperplasia must be ruled out. The same is true in boys who present with pseudoprecocious puberty and in older girls with signs and symptoms of hyperandrogenism, although, in teenage girls, polycystic ovary is the most common cause.. Congenital adrenal hyperplasia can be reliably diagnosed with a dexamethasone suppression test. Apart from a few rare causes of hyperandrogenism including exaggerated adrenarche secondary to adrenal hyperresponsiveness to ACTH, hyperprolactinemia, and acromegaly, congenital adrenal hyperplasia is the only virilizing condition in which androgen secretion is suppressed by dexamethasone. ACTH levels can be used to confirm the diagnosis if it is still questionable. An increase in plasma 17-OHP to more than 1200 ng/dL at 60 minutes in response to an IV injection of 250 mcg of cosyntropin is diagnostic of ...
Results 131 children were notified in the first 24 months of surveillance, of whom 51 (40%) were diagnosed between 1-15 years of age with CAH of the following subtypes: 21-hydroxylase deficiency (n=36), 11 β-hydroxylase deficiency (n=6), 9 children not yet determined. 14/51 (28%) were Asian compared with 4% of the UK child population and 29/51 (57%; 95% CI 43 to 69%) were girls. Median age at presentation was 6 years (IQR 5-9). In the majority, first presentation was with precocious puberty (36/51; 71%). Two children presented with adrenal insufficiency but a further six went on to have episodes of adrenal insufficiency. 37/51 (73%) had advanced bone age and/or accelerated growth at presentation. One girl, presenting with virilisation, had undergone genital surgery at the time of notification. ...
Congenital adrenal hyperplasia (CAH) is a genetic disorder arising from defective steroidogenesis resulting in glucocorticoid deficiency; the commonest mutation is in the gene encoding 21-hydroxylase. Lifesaving glucocorticoid treatment was introduced in the 1950s and there is now an enlarging cohort of adult patients; however, there is no consensus on management. To address this issue, the Congenital adrenal Hyperplasia Adult Study Executive (CaHASE) was formed in 2003 to study the health status of CAH patients in adulthood. Seventeen specialist Endocrinology centres around the United Kingdom recruited a cohort of 203 adult patients and gathered information on medical treatment, fertility, genetic analysis and quality of life (QoL). The CaHASE study found that adult patients are prescribed a variety of glucocorticoids including hydrocortisone, prednisone, prednisolone, dexamethasone, and combinations taken in either a circadian or reverse circadian regimen. Despite this variety in personalized ...
Congenital adrenal hyperplasia (CAH) is one of the most common inherited autosomal recessive disorders, caused by deficiency of one of the enzymes involved in steroid synthesis. The clinical picture of the most prevalent form, i.e. 21-hydroxylase deficiency, is characterized by cortisol and mostly aldosterone deficiency and androgen excess (leading to congenital virilization in girls). Treatment consists of glucocorticoids, aimed at substitution of cortisol deficiency and, decrease of androgen excess. Usually supraphysiological doses of glucocorticoids are required to effectively suppress adrenal androgens. Furthermore, with the currently available glucocorticoid preparations, it is not possible to simulate a normal circadian rhythm in CAH patients. Therefore, it is a difficult task for (pediatric) endocrinologists to find the best balance between under- and overtreatment thereby avoiding important long term complications. In this review we will discuss the current pharmacologic treatment ...
17a-Hydroxypogesterone (17aOHP) is a steroid intermediate in the biosynthesis of glucocorticoids. It is produced in the testes, ovary and adrenal. The main clinical use of this assay is in the diagnosis and monitoring of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.. ...
There are two types of CAH. The first called Classical CAH which is usually detected through prenatal testing or diagnosed in early childhood. When the pituitary gland senses there is insufficient cortisol in the bloodstream, it releases a hormone called ACTH (adrenocorticotropic hormone). This, in turn, stimulates the adrenals to produce more cortisol. The enzyme 21-hydroxylase is needed to convert a precursor molecule called 17-hydroxyprogesterone (17-OHP) into cortisol, but those with CAH lack sufficient amounts of 21-hydroxylase causing the pituitary gland to pump out more ACTH when it senses the need for cortisol. The adrenals convert an overabundance of 17-OHP into masculine steroid hormones called androgens. As stated before, adrenal glands are responsible for creating cortisol, in order to maintain adequate energy supply and blood sugar levels, and deal with physical and emotional stress. "Lack of adequate cortisol also prevents the body from properly metabolizing sugar and responding to ...
adsbygoogle = window.adsbygoogle ,, []).push({}); The 21-hydroxylase deficiency is the most common congenital adrenal hyperplasia due. Adrenal enzymatic blocks are transmitted ...
With careful treatment it should be possible for children with CAH to grow at a rate sufficient to achieve an adult height within the normal range. However, even with the very best treatment, it is not always possible to achieve perfect growth in CAH, and some individuals may end up shorter adults than they would otherwise have been. Also, the dose of hydrocortisone required to control the CAH may make it difficult for some children to keep their weight down, and this can be a particular problem for girls at adolescence. It may be helpful to have the input of a dietician - you should discuss this with your specialist. ...
With careful treatment it should be possible for children with CAH to grow at a rate sufficient to achieve an adult height within the normal range. However, even with the very best treatment, it is not always possible to achieve perfect growth in CAH, and some individuals may end up shorter adults than they would otherwise have been. Also, the dose of hydrocortisone required to control the CAH may make it difficult for some children to keep their weight down, and this can be a particular problem for girls at adolescence. It may be helpful to have the input of a dietician - you should discuss this with your specialist. ...
An inherited condition that affects the adrenal glands. These glands are located on top of the kidneys and produce three types of hormones called cortisol, aldosterone and androgens. Females with classical CAH are born with masculine appearing external genitals but with female internal sex organs. Males with classical CAH appear normal at birth. Males and females with classical CAH are likely to have trouble retaining salt, a condition that can be life threatening.
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Adrenal gland- ito ay isang organ na matatagpuan sa ibabaw ng kidneys. Ito ang gumaganap upang magbigay ng hormones na kinakailangan ng katawan para sa normal function. Ang mga hormones na lumalabas sa adrenal glands ay cortisol , aldosterone at androgen. ...
Dr. Speiser has had a long-standing interest in congenital adrenal hyperplasia (CAH) and related disorders. She served as Chair of The Endocrine Society Task Force for Clinical Practice Guidelines for CAH and is on the Medical Advisory Boards of The CARES Foundation and the National Adrenal Diseases Foundation. Other clinical research interests include childhood growth, obesity and diabetes. Dr. Speiser has received foundation funding to study the natural history of diabetes risk factors in middle school children as part of a consortium of several metropolitan New York are hospitals, and has participated in TRIALNET, a multicenter diabetes trial sponsored by The National Institutes of Health.. Dr. Speiser is currently involved in an NIH-sponsored multicenter clinical trial to test the safety and efficacy of a novel drug for congenital adrenal hyperplasia in children. Our team is also participating in a study sponsored by Rhythm Pharmaceuticals to identify youngsters with genetic traits ...
SUMMARY. Two sisters with deficient 17-hydroxylase activity are described. The enzyme, 17-hydroxylase, is necessary for both Cortisol and estrogen synthesis. Deficiency of these hormones results in increased adrenocorticotrophic hormone (ACTH) and follicle-stimulating hormone (FSH). Synthesis of deoxycorticosterone (DOC) and corticosterone (B) does not require 17-hydroxylation and is increased with resultant hypertension. Estrogen lack results in primary amenorrhea and absent sexual maturation. Ovarian enlargement and infarction from twisting also occur. Suppressive therapy with dexamethasone and estrogens has lowered the blood pressure and produced feminization. ...
0118] In some embodiments, one or more CAH panel analytes are quantified in a sample using MS/MS as follows. The samples are subjected to liquid chromatography, preferably TFLC followed by HPLC; the flow of liquid solvent from the chromatographic column enters the heated nebulizer interface of an MS/MS analyzer; and the solvent/analyte mixture is converted to vapor in the heated tubing of the interface. The CAH analytes contained in the nebulized solvent are ionized by the corona discharge needle of the interface, which applies a large voltage to the nebulized solvent/analyte mixture. The ions, e.g. precursor ions, pass through the orifice of the instrument and enter the first quadrupole. Quadrupoles 1 and 3 (Q1 and Q3) are mass filters, allowing selection of ions (i.e., selection of "precursor" and "fragment" ions in Q1 and Q3, respectively) based on their mass to charge ratio (m/z). Quadrupole 2 (Q2) is the collision cell, where ions are fragmented. The first quadrupole of the mass ...
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Katy and Houston Texas diabetes endocrinologists Diana Desai MD, Cristina Dumitru MD, Medhavi Jogi MD, Fareed Elhaj MD and pediatric endocrinologist Dr. Deepa Suresh treat thyroid diseases, thyroid nodules, parathyroid, pituitary, and diabetes mellitus. They diagnose and manage Papillary thyroid cancer, follicular thyroid cancer, and medullary thyroid cancer. Hypothyroidism and Hyperthyroidism are common conditions that they treat. There are many Pituitary disorders that they treat. Adrenal disease, low testosterone, and calcium disorders are within their expertise. They have thyroid ultrasound, thyroid fine needle aspiration (FNA) biopsy, and nuclear thyroid treatment capability.
International Journal of Endocrinology is a peer-reviewed, Open Access journal that provides a forum for scientists and clinicians working in basic and translational research. The journal publishes original research articles, review articles, and clinical studies that provide insights into the endocrine system and its associated diseases at a genomic, molecular, biochemical and cellular level.
Whenever I study an interesting topic in Obstetrics and Gynaecology,I use this blog to share the information. I checked the facts as much as I can.l will link to the relevant documents and give the references whenever possible.Please be kind enough to make comments. I hope this blog is also useful for the MRCOG Exam(members of Royal college of Obstetricians & Gynaecologists). My Twitter account is http://www.twitter.com/ravimohanv. ...
Then, she asked me some follow-ups… How is my quality of sleep? I heard myself say, "Bad." (Whoa, I thought to myself! I never really said that out loud before, but I guess my sleep isnt really what I want it to be… I want to be able to fall asleep and stay asleep better. I told her this.) How is my skin? Combo/itchy sometimes, too. How is my energy level? Poor. I never met a nap I didnt want to take. Just about any time of the day. Im especially tired around 3 p.m. daily. And by the time I get home from work, I just want to throw myself on the couch. Ive always chalked that up to stress, sitting all day at work, the wrong or nonexistent snacks perhaps. But, no, its more than that. Do I wake up feeling energized? Rarely. Have I had a ridiculously hard time trying to lose a small amount of weight? YES! Does anyone in my family have a history of thyroid problems? (It can be genetic.) Yes, yes, YES. My Grandma E, who I am pretty sure I take after biologically, was diagnosed with ...
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YARMAN SEMA , DURSUN ALI , OGUZ FATMA , ALAGOL FARUK Endocrine journal 51(1), 31-36, 2004-02-01 医中誌Web 参考文献35件 被引用文献1件 ...
My daughter was born with Salt-wasting congenital adrenal hyperplasia, she has developed a Gi bleed at 2 weeks old, corrective surgery at age of 9months, diagnosed with Hypothyroidism at age of 3. Onc...
TY - JOUR. T1 - Pathological manifestation of difference in washout pattern of adrenal hyperplasia on dynamic CT. AU - Nishie, Akihiro. AU - Asayama, Yoshiki. AU - Ishigami, Kousei. AU - Kakihara, Daisuke. AU - Nakayama, Tomohiro. AU - Ushijima, Yasuhiro. AU - Takayama, Yukihisa. AU - Yokomizo, Akira. AU - Tatsugami, Katsunori. AU - Inokuchi, Junichi. AU - Fujita, Nobuhiro. AU - Kubo, Yuichiro. AU - Aishima, Shinichi. AU - Hirakawa, Masakazu. AU - Honda, Hiroshi. PY - 2014/10/1. Y1 - 2014/10/1. N2 - Introduction: The relationship between the washout pattern and constituent cell in adrenal hyperplasia (AH) has not been fully investigated. The purpose of this study was to elucidate the radiological or pathological factors determining the washout pattern of AH on dynamic CT. Methods: Ten patients with 14 surgically proven AHs were enrolled. Dynamic CT was scanned before (pre-contrast image) and 60 seconds (early phase) and 240 seconds (delayed phase) after administration of iodine contrast. The ...
21-hydroxylase deficiency is the commonest enzyme defect in congenital adrenal hyperplasia resulting in low circulating cortisol and, in severe cases, low aldosterone which may lead to cardiac arrest in the neonate. As the low levels of coitisol· lead to raised levels of adrenocorticotrophic hormone large concentrations of androgens are formed in utero which may lead to cliteromegaly and consequent confusion of the sexes at birth. High concentrations of the androgens give rise to rapid growth in early childhood and early fusion of the epiphyses results in short stature of the adult. 17-alphahydroxyprogesterone (170HP) is raised in the blood and saliva of children with 21-hydroxylase deficiency. 170HP is commonly measured by radioimmunoassay which limits the assay to being performed by laboratories equipped with beta or gamma counters. The aim of this project was to develop an enzymeimmunoassay which could be carried out using the minimum amount of equipment. Horseradish peroxidase was ...
January 30, 2017 /Press Release/ -- A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by investigators at the Icahn School of Medicine at Mount Sinai. This is the first time that the complete genetic profile has been identified.. The findings, published in Proceedings of the National Academy of Sciences, on January 30th, may eventually lead to newborn screening, diagnosis, and treatment. Prenatal diagnosis and treatment may be developed to prevent genital ambiguity.. The disorder is a rare form of congenital adrenal hyperplasia (CAH) resulting in excessive adrenal male hormone secretion caused by deficient secretion of cortisol, a vital steroid hormone. This begins to affect sexual development at approximately 9 weeks of pregnancy and leads to masculization of the genitalia in the female fetus, resulting in genital ...
Inherited adrenal and gonadal 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) deficiency is most likely caused by a mutation of the type II 3 beta-HSD gene. Cloning and sequencing of exons I-II, III, and IV and portions of the adjacent introns, amplified by polymerase chain reaction using primers specific for the type II gene, in one male pseudohermaphrodite with salt-wasting classic 3 beta-HSD deficiency congenital adrenal hyperplasia revealed the same mutation in all nine clones of exon IV consisting of a missense mutation at codon 248 [GTC(Val)--,AAC(Asn)] followed by a frameshift mutation at codon 249 [CGA (Arg)--,TA], resulting in a stop codon TAG, and normal sequences of exon I-II and III and the adjacent portions of introns ...
We have had several members whose dogs have been diagnosed as having congenital adrenal hyperplasia-like syndrome, and we have many other people asking about Atypical Cushings, so this is for anyone who might be looking for information on those conditions. If a dog continues to exhibit Cushings symptoms, yet tests negative or borderline for Cushings on the usual tests (ACTH stimulation test and Low Dose dexamethasone suppression test) your Vet or Internal Medicine Specialist Vet may
This thread is over a year old but I thought I would check in on you. How are you now? Here is something that may help with what your dealing with. Im 43 years old and a female in 1993 I was diagnosed with Congenital Adrenal Hyperplasia 21 OH deficiency I had a stress dose of cortisol for adrenal crisis and was sent home with no other instructions. Being a young mother and ignorant of this condition I thought it was a one time event and tried to move on with my life. Needless to say for twenty some odd years I had no idea I was in trouble. I had an ACTH stimulation test that showed a morning cortisol of 16 the 17 hydroxyprogesterone level was 10,900 at thirty minutes. I asked for an adrenal washout CT scan and it showed a .09 x 1.3 cm growth on my left adrenal gland. These can produce excess cortisol but is you are CAH 21 OH deficient you cant use it and full physiologic replacement should be given. I recommend Dr Maria New at Mount Sanai hospital in New York she is an expert in ...
Congenital adrenal hyperplasia (CAH), with an incidence rate of 1 in 10,000 to 18,000 live births, is one of the most common inherited syndromes. The condition is characterized by impaired cortisol production due to inherited defects in steroid biosynthesis. The clinical consequences of CAH, besides diminished cortisol production, depend on which enzyme is affected and whether the loss of function is partial or complete.. In greater than 90% of CAH cases, the affected enzyme is 21-steroid hydroxylase, encoded by the CYP21A2 gene located on chromosome 6 within the highly recombinant human histocompatibility complex locus. 21-hydroxylase deficient CAH is inherited in an autosomal recessive pattern and has a spectrum of clinical phenotypes depending upon residual enzyme activity. Excessive adrenal androgen biosynthesis results in varying degrees of virilization. If there is some residual enzyme activity, a non-classical phenotype results, with signs of hyperandrogenism typically starting in later ...
I have a 12 year old daughter who was born with a condition called congenital adrenal hyperplasia(CAH). I have recently learned from doing computer research on this condition that it could have been detected before she was born. I had an amniocintesis done when I was 5.5 months pregnant with her,I was told she was going to be born with open spinabifada, I knew that was wrong because she moved to much during pregnancy so I was given a wrong diagnosis. I have also learned that there are some things with her CAH that could have been prevented with correct diagnosis and proper treatment during pregnancy. How could such a mistake have been made.. Reply Follow This Thread Stop Following This Thread Flag this Discussion ...
Dexamethasone has also been used during pregnancy as an off-label prenatal treatment for the symptoms of congenital adrenal hyperplasia (CAH) in female fetuses. CAH causes a variety of physical abnormalities, notably ambiguous genitalia in girls.
Combined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented with abdominal pain and was diagnosed with a retroperitoneal malignant mixed germ cell tumour. She was hypertensive and hypogonadal. One sibling presented with headache due to hypertension while the other two siblings were diagnosed with hypertension on a routine school check. A homozygous R96Q missense mutation in P450c17 was detected in the index case who had primary amenorrhea and lack of secondary sexual characters at 17 years. The middle two siblings were identical twins and had no secondary sexual characters at the age of 14. All siblings had hypokalemia, very low level of adrenal androgens, high ACTH and high levels of aldosterone substrates. Treatment was commenced with steroid replacement and puberty induction with estradiol. The ...
Combined17α-hydroxylase/17,20-lyase deficiency is a rare cause of congenital adrenal hyperplasia and hypogonadism. Hypertension and hypokalemia are essential presenting features. We report an Arab family with four affected XX siblings. The eldest presented with abdominal pain and was diagnosed with a retroperitoneal malignant mixed germ cell tumour. She was hypertensive and hypogonadal. One sibling presented with headache due to hypertension while the other two siblings were diagnosed with hypertension on a routine school check. A homozygous R96Q missense mutation in P450c17 was detected in the index case who had primary amenorrhea and lack of secondary sexual characters at 17 years. The middle two siblings were identical twins and had no secondary sexual characters at the age of 14. All siblings had hypokalemia, very low level of adrenal androgens, high ACTH and high levels of aldosterone substrates. Treatment was commenced with steroid replacement and puberty induction with estradiol. The ...
Question - Oxyelite pro and CAH. Ask a Doctor about diagnosis, treatment and medication for Congenital adrenal hyperplasia, Ask an Internal Medicine Specialist
Disease, Amyloid, Biomarkers, Growth, Role, Cerebrospinal Fluid, Threonine, Fibroblast Growth Factor, Hormone, Methods, Measure, 17-hydroxyprogesterone, Congenital Adrenal Hyperplasia, Development And Growth, Hormones, Hyperplasia, Meningiomas, Progesterone, Progesterone Receptors, Quality Control
A recent study in the journal Hormones and Behavior found that genetics play a key role in the career choices we make. In short, men become astronauts and women prefer nursing because of our biological nature, not environmental factors.. In our society, males are more likely to work in fields dealing with things like science, technology, engineering and math (STEM); whereas women lead the ranks in creative careers and those based on serving people. Thats just the way things are - but is it based on sexism, which is a social construct, or is there a biological reason? Women Are Choosing Love Over Math & Science Careers. A team from Penn State University studied teenagers and young adults with congenital adrenal hyperplasia (CAH) - a genetic condition - and their siblings without the condition. While in the uterus, those with CAH have more exposure to the male sex hormone called androgen than is normal. Females with CAH are genetically female, but their interests tend to be more trucks than ...
The pregnant women targeted are at risk for having a child born with the condition congenital adrenal hyperplasia (CAH), an endocrinological condition that can result in female fetuses being born with intersex or more male-typical genitals and brains. Women genetically identified as being at risk are given dexamethasone, a synthetic steroid, off-label starting as early as week five of the first trimester to try to "normalize" the development of those fetuses, which are female and CAH-affected. Because the drug must be administered before doctors can know if the fetus is female or CAH-affected, only one in eight of those exposed are the target type of fetus.. The off-label intervention does not prevent CAH; it aims only at sex normalization. Like Diethylstilbestrol (DES) - which is now known to have caused major fertility problems and fatal cancers among those exposed in utero - dexamethasone is a synthetic steroid. Dexamethasone is known - and in this case intended - to cross the placental ...
Texas mandates a two-test newborn screening program for congenital adrenal hyperplasia (CAH): one test at birth and a second test at approximately one to two weeks after birth. The authors compared the dollar cost of detecting infants with CAH clinic ...
Lipoid congenital adrenal hyperplasia (LCAH) is considered to be potentially life-threatening unless treated in early infancy; see links at STAR gene and via ClinVar. ...
In this thesis several important proteins are investigated from a structural perspective. Some of the proteins are disease related while other have important but not completely characterised functions. The techniques used are general as demonstrated by applications on metabolic proteins (CYP21, CYP11B1, IAPP, ADH3), regulatory proteins (p53, GDNF) and a transporter protein (ANTR1).. When the protein CYP21 (steroid 21-hydroxylase) is deficient it causes CAH (congenital adrenal hyperplasia). For this protein, there are about 60 known mutations with characterised clinical phenotypes. Using manual structural analysis we managed to explain the severity of all but one of the mutations. By observing the properties of these mutations we could perform good predictions on, at the time, not classified mutations.. For the cancer suppressor protein p53, there are over thousand mutations with known activity. To be able to analyse such a large number of mutations we developed an automated method for evaluation ...
Because of their aptitude to distribute work across nodes, they can also be against to efficiently run calculations on heterogeneous text stored in distributed locations. Usher also Fractures Rank metabolic panel (CMP), 740 Complex predilection for seizures, 518t Also fuze skull fracture, 538t Computed tomography (CT) in danger, 1137d in endocrine disorders, 983d in musculoskeletal disorders, 839d in neoplastic disorders, 1030d in neurologic catechism, 507d in respiratory disorders, 596d Computer games, 51, 51f Concussion, 538t Conditioned merrymaking audiometry (CPA), 244t Direct behave disorder, 1115 Conductive hearing defeat, 580 "Cone of Culture", 228, 228f Private treatment, in children, 20В-21 exceptions to, 21 Congenital adrenal hyperplasia (CAH), 1001В-1004 nursing assessment in, 1002В-1003 nursing top brass of, 1003В-1004 order abide and indoctrination in, 1003В-1004 preventing/monitoring towards severe adrenal danger in, 1003 pathophysiology of, 1002 therapeutic administration of, ...
In this thesis several important proteins are investigated from a structural perspective. Some of the proteins are disease related while other have important but not completely characterised functions. The techniques used are general as demonstrated by applications on metabolic proteins (CYP21, CYP11B1, IAPP, ADH3), regulatory proteins (p53, GDNF) and a transporter protein (ANTR1).. When the protein CYP21 (steroid 21-hydroxylase) is deficient it causes CAH (congenital adrenal hyperplasia). For this protein, there are about 60 known mutations with characterised clinical phenotypes. Using manual structural analysis we managed to explain the severity of all but one of the mutations. By observing the properties of these mutations we could perform good predictions on, at the time, not classified mutations.. For the cancer suppressor protein p53, there are over thousand mutations with known activity. To be able to analyse such a large number of mutations we developed an automated method for evaluation ...
Cervical mucus A type of sticky substance produced by the cells of the cervix which is produced during a womans monthly cycle. This mucus changes throughout different stages of this cycle and is used to predict ovulation. Cervix The bottom part of the uterus which joins with the top part of the vagina. It enables blood to flow out through the vagina during menstruation and widens during childbirth to allow the foetus to pass from the uterus to the vagina. Chlamydia. The most common sexually transmitted disease in the UK. It affects both men and women equally and can cause long term damage such as infertility if left untreated.. Chromosome. A thread like structure of DNA and protein in cells within the body which contains genes and other hereditary information. The human body has 23 pairs of chromosomes. Clomid. The brand name for clomiphene citrate. A popular fertility drug that is used to stimulate ovulation. Congenital Adrenal Hyperplasia (CAH) A genetically inherited condition in which a ...
SB2206 Municipalities; revise decennial redistricting for Jordan mayor-council form of government. 01/05 (S) Referred To Municipalities;Elections SB2207 Disclosure of nonpublic personal information by Kirby insurance licensees; regulate. 01/05 (S) Referred To Insurance SB2208 School boards; may use district funds to pay for field Furniss trips. 01/05 (S) Referred To Education SB2209 Emergency Medical Service (EMS); statutes; make Huggins technical amendments to. 01/05 (S) Referred To Public Health and Welfare SB2210 Congenital adrenal hyperplasia (CAH); State Dept. of Huggins Health add to newborn screening program. 01/05 (S) Referred To Public Health and Welfare SB2211 State Board of Health and State Department of Health; Huggins extend repealer. 01/05 (S) Referred To Public Health and Welfare SB2212 Early Intervention for Infants and Toddlers Act; make Huggins technical amendments to. 01/05 (S) Referred To Public Health and Welfare SB2213 Controlled substances; revise Schedules I, III and IV. ...
[Determination of serum steroids in monitoring therapy of congenital adrenal hyperplasia].: Each of serum 17-OHP or/and Δ4-A concentration was of significance i
My younger daughter was prescribed with Florinef three months ago, may be this period of time is not sufficient to judge about the efficiency of a corticosteroid but I am so pleased with the way Florinef works that I decided to share my opinion with others. Our diagnosis is congenital adrenal hyperplasia, as our doctor - pediatric endocrinologist - explained it means that my daughters adrenal glands dont produce enough cortisol for her body. She was diagnosed at an early age, when her height and weight just slightly differed from the norm. The doctor prescribed Florinef to boost the levels of deficient hormones in my baby. Since the time we started on Florinef we undergo regular tests to monitor her condition and according to the test results the medication works perfectly well. There is almost no threat for her normal growth. The prognosis is very optimistic. With the help of Florinef my daughter will be able to grow normally, the only condition is careful dosage of the medication and regular ...
Treatment of intersex states is controversial. Traditional treatment assigns sex according to test results. Most doctors believe this gives the child the potential to identify with a sex. Treatment may then include reconstructive surgery followed by hormone therapy. Babies born with congenital adrenal hyperplasia can be treated with cortisone-type drugs and sometimes surgery. Counseling should be given to the entire family of an intersex newborn. Families should explore all available medical and surgical options. Counseling should also be provided to the child when he or she is old enough. Since the mid-1950s, doctors have typically assigned a sex to an intersex infant based on how easy reconstructive surgery would be. The American Academy of Pediatrics states that children with these types of genitals can be raised successfully as members of either sex, and recommends surgery within the first 15 months of life. Some people are critical of this approach, including intersex adults who were ...
Im Jamie, Im 32 (very nearly 33) years old, married to JP for just over 2 years (but together for 6). I am 18 months post-op, roux-en-y (RNY) gastric bypass surgery; theres a link above if youre interested in reading more about it. Since beginning my weight-loss journey (before pregnancy), I lost 146 pounds. Ive gained about 30 of that back in the last 7 months. I suffer from Non-Classic Congenital Adrenal Hyperplasia (NCAH), which effects my fertility very similarly to PCOS. Untreated it causes elevated testosterone levels, insulin resistance, anovulation, etc. Despite these hurdles, I am 33 weeks pregnant with my first child, a little girl! It has not been without complications. I had some spotting scares, which were eventually explained by placenta previa. Were having some growth issues. IUGR was mentioned last visit. We started at 8th percentile, jumped to the 20th and 16th, but have settled back down at 7th/5th at my last two growth scans. More of my IF history and US pictures of my ...
Monostori P, Szabo P, Marginean O, Bereczki C, Karg E: Concurrent Confirmation and Differential Diagnosis of Congenital Adrenal Hyperplasia from Dried Blood Spots: Application of a Second-Tier LC-MS/MS Assay in a Cross-Border Cooperation for Newborn Screening, HORMONE RESEARCH IN PAEDIATRICS 84: (5) pp. 311-318 ...
Womens herbal viagra. However, the incidence ofivh, nec, and retinopathy of prematurity congenital adrenal hyperplasia 5la-hydroxylase deficiency ambiguous ovaries 26,xx ambiguous ovaries. 4 outcome evaluation the goal is to decrease csf production. Hypercoagulable state: A state of the urinary tract, abnormalities may also be obtained.
Development of a testicular adrenal rest tumor (TART) is common in males with congenital adrenal hyperplasia, and it can be an important cause of infertility. In the present study, we observed the prevalence of TARTs, and analyzed its associated fact
The NICHD conducts and supports research on many aspects of CAH. The institute maintains a leading role in this field with ongoing studies into the genetics and the treatment of CAH, and the links between CAH and other conditions, such as hypoglycemia and metabolic syndrome. NICHD research efforts related to CAH span topics including:
Sex development begins in utero but continues into young adulthood with the achievement of sexual maturity and reproductive capability. The major determinants of sex development can be divided into three major components: chromosomal sex, gonadal sex (sex determination), and phenotypic sex (sex differentiation) (Fig. 349-1). Abnormalities at each of these stages can result in disorders of sex development (DSDs) (Table 349-1). A child born with ambiguous genitalia requires urgent assessment, as some causes such as congenital adrenal hyperplasia (CAH), can be associated with life-threatening adrenal crises. Early gender assignment and clear communication with parents about the diagnosis and treatment options are essential. The involvement of an experienced multidisciplinary team is crucial for counseling, medical management, and surgical evaluation/intervention (if needed). Subtler forms of gonadal dysfunction [e.g., Klinefelters syndrome (KS), Turners syndrome (TS)] often are diagnosed later in ...
This study documented hyperandrogenism in 18 hirsute women and determined if the condition was gonadotropin dependent. Plasma androstenedione, testosterone, and luteinizing hormone (LH) were measured by radioimmunoassay. All had 24-hour urinary 17-ketosteroids, 17-ketogenic steroids, and pregnanetriol measured, and those with Cushings syndrome and congenital adrenal hyperplasia we e excluded from the study. Six underwent bilateral longitudinal ovarian wedge resection and had polycystic ovarian disease. The mean plasma androstenedione of 18 patients was 332 ng/100 ml (SE ± 24.6 ng/100 ml). The normal mean androstenedione is 180 ng/100 ml. Mean plasma testosterone was 77 ng/100 ml (±12.2). The normal range for ...
For more information about newborn screening tests, check out Newborn Screening Tests from KidsHealth.. The following is a list from the National Newborn Screening and Genetic Resource Center of the standard newborn screening procedures by state. For a pdf of this list, click here.. Newborn Screener: Alabama. Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Sickle cell disease, Congenital adrenal hyperplasia. Newborn Screener: Alaska Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Maple syrup urine disease, Biotinidase deficiency, Congenital adrenal hyperplasia. Newborn Screener: Arizona Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Maple syrup urine disease, Homocystinuria, Biotinidase deficiency, Sickle cell disease. Newborn Screener: Arkansas Infants must be screened for:. Phenylketonuria (PKU), Congenital hypothyroidism, Galactosemia, Sickle cell ...
Mutation in the orphan nuclear receptor DAX-1 gene causes X-linked adrenal hypoplasia congenita (AHC). Affected male children classically suffer a salt-losing crisis and adrenal insufficiency in their early infancy or, in some rare exceptions, with late-onset subtype. We report here a patient manifesting late-onset adrenal hypoplasia congenita caused by the premature truncation of the C-terminus of the DAX-1 molecule, which is essential for its function as a transcriptional repressor. A 12-year-old boy was referred to us after being afflicted with generalized skin pigmentation for about 3 years, fatigue and headache. Primary adrenal insufficiency was determined on the basis of a low plasma cortisol level (3.9 μg/dl) despite an extremely high ACTH level (1200 pg/ml). Replacement therapy with hydrocortisone and fludorocortisone acetate was initiated soon thereafter. Hypogonadotropic hypogonadism was confirmed at the age of 18 years, at which time sexual infantilism had become apparent. Direct sequencing
Valproik Asit’in Nadir Yan Etkileri: Gingiva Hiperplazisi Ve Servikal Lenfadenopati. DAĞ, Ersel; DEMİRER, Serhat; GÖKÇE, Burcu; ACAR, Betül; KEÇELİ, Hüseyin Gencal; AYLIKÇI, Uğur Bahadır; ERDEMOĞLU, Ali Kemal // Duzce Medical Journal;Jan2013, Vol. 15 Issue 1, p56 Gingival hyperplasia is a common disorder seen in patients with epilepsy treated with phenytoin. It is rarely seen in patients taking sodium valproate therapy. Especially in mentally retarded patients, poor oral hygiene causes to the accumulation of bacterial plaque and inflammation might be... ...
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Congenital adrenal hyperplasia facts, information, pictures | Encyclopedia.com articles about Congenital adrenal hyperplasiaCongenital adrenal hyperplasia facts, information, pictures | Encyclopedia.com articles about Congenital adrenal hyperplasia

Make research projects and school reports about Congenital adrenal hyperplasia easy with credible articles from our FREE, ... and pictures about Congenital adrenal hyperplasia at Encyclopedia.com. ... Congenital adrenal hyperplasia. Definition. Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by a ... Congenital adrenal hyperplasia (CAH) is a form of adrenal insufficiency in which the enzyme that produces two important adrenal ...
more infohttps://www.encyclopedia.com/medicine/diseases-and-conditions/pathology/congenital-adrenal-hyperplasia

Genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiencyGenetics and clinical presentation of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Defective conversion of 17-hydroxyprogesterone to 11-deoxycortisol accounts for more than 90 percent of cases of congenital ... adrenal hyperplasia (CAH). This conversion is mediated by 21-hydroxylase, the enzyme encoded by theCYP21A2gene.Patients with c ... Congenital adrenal hyperplasia. N Engl J Med 2003; 349:776.. *Pang, S, Clark, A. Congenital adrenal hyperplasia due to 21- ... Patient education: Congenital adrenal hyperplasia (The Basics). *Treatment of classic congenital adrenal hyperplasia due to 21- ...
more infohttp://www.uptodate.com/contents/genetics-and-clinical-presentation-of-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency

Lipoid congenital adrenal hyperplasia - WikipediaLipoid congenital adrenal hyperplasia - Wikipedia

Lipoid 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 ... Congenital adrenal hyperplasias are a family of autosomal recessive diseases resulting from defects in steps of the synthesis ... "Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late ...
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Evaluation of Blood Pressure and Left Ventricular Parameters in Children
with Classical Congenital Adrenal Hyperplasia Due to...Evaluation of Blood Pressure and Left Ventricular Parameters in Children with Classical Congenital Adrenal Hyperplasia Due to...

Evaluation of Blood Pressure and Left Ventricular Parameters in Children with Classical Congenital Adrenal Hyperplasia Due to ... Background/Aims: Congenital Adrenal Hyperplasia (CAH) patients are at higher risk of systemic hypertension secondary to high ... Evaluation of Blood Pressure and Left Ventricular Parameters in Children with Classical Congenital Adrenal Hyperplasia Due to ... Evaluation of Blood Pressure and Left Ventricular Parameters in Children with Classical Congenital Adrenal Hyperplasia Due to ...
more infohttps://www.omicsonline.org/peer-reviewed/evaluation-of-blood-pressure-and-left-ventricular-parameters-in-childrenwith-classical-congenital-adrenal-hyperplasia-due-to-21hyd-59771.html

Congenital Adrenal Hyperplasia in Males : Symptoms & Causes - Parenting Nation IndiaCongenital Adrenal Hyperplasia in Males : Symptoms & Causes - Parenting Nation India

... causes and treatment of Congenital Adrenal Hyperplasia, parents should always get themselves treated in all manner of ... Congenital Adrenal Hyperplasia in Males. When the adrenal gland in the male system begins to experience lots of inherited ... Again, congenital adrenal hyperplasia can also involve the lack of aldosterone which usually leads to severe or mild loss of ... Congenital adrenal hyperplasia in males can be effectively handled when proper tests and diagnosis are carried out. Although ...
more infohttp://www.parentingnation.in/Health-Care/congenital-adrenal-hyperplasia-in-males_466

Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their childhood...Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their childhood...

Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their childhood ... title = "Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their ... Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their childhood ... T1 - Stigma in medical settings as reported retrospectively by women with Congenital Adrenal Hyperplasia (CAH) for their ...
more infohttps://researchwith.montclair.edu/en/publications/stigma-in-medical-settings-as-reported-retrospectively-by-women-w

adrenal rest tumor disease finding 2005:2010[pubdate] *count=100 - BioMedLib™ search engineadrenal rest tumor disease finding 2005:2010[pubdate] *count=100 - BioMedLib™ search engine

Adrenal Hyperplasia, Congenital / diagnosis. Adrenal Hyperplasia, Congenital / pathology. Adrenal Hyperplasia, Congenital / ... Adrenal Hyperplasia, Congenital / complications. Adrenal Hyperplasia, Congenital / diagnosis. Adrenal Hyperplasia, Congenital ... Title] Puberty and fertility in congenital adrenal hyperplasia.. *Congenital adrenal hyperplasia (CAH) is a disorder of adrenal ... MeSH-major] Adrenal Hyperplasia, Congenital / complications. Adrenal Hyperplasia, Congenital / diagnosis. Adrenal Rest Tumor / ...
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PatientsLikeMe | Fludrocortisone report for  patients like youPatientsLikeMe | Fludrocortisone report for patients like you

... hormone aldosterone in various forms of adrenal insufficiency such as Addisons disease and congenital adrenal hyperplasia. It ...
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Fludrocortisone Precio SanbornsFludrocortisone Precio Sanborns

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Congenital Adrenal HyperplasiaCongenital Adrenal Hyperplasia

... on the use of laboratory testing in the diagnosis and management of classic and nonclassic congenital adrenal hyperplasia (CAH ... Figure 2. Testing Options for Follow-up of a Positive Newborn Screen for Congenital Adrenal Hyperplasia (CAH). ... Tests Available for Diagnosis and Management of Congenital Adrenal Hyperplasia (CAH) [return to contents]. ... Figure 3. Differentiation of Nonclassic Congenital Adrenal Hyperplasia (NCCAH) from Polycystic Ovary Syndrome (PCOS). ...
more infohttp://www.questdiagnostics.com/testcenter/testguide.action?dc=CF_CAH

congenital adrenal hyperplasiacongenital adrenal hyperplasia

I have M.E.N.1. I developed Adrenal Insufficiency, several yrs. ago, after too many surgeries & basically, my body went into ...
more infohttps://www.endocrineweb.com/community/addisons-disease/5566-congenital-adrenal-hyperplasia

Congenital Adrenal Hyperplasia Clinical Research Trials | CenterWatchCongenital Adrenal Hyperplasia Clinical Research Trials | CenterWatch

Congenital Adrenal Hyperplasia Clinical Research Trial Listings in Endocrinology Pediatrics/Neonatology Family Medicine on ... Androgen Reduction in Congenital Adrenal Hyperplasia Phase 1 Congenital adrenal hyperplasia (CAH) is an inherited inability to ... Congenital Adrenal Hyperplasia Clinical Trials. A listing of Congenital Adrenal Hyperplasia medical research trials actively ... Adult Height Prediction in Congenital Adrenal Hyperplasia Congenital Adrenal Hyperplasia (CAH) is a genetic rare disease, which ...
more infohttp://www.centerwatch.com/clinical-trials/listings/condition/267/congenital-adrenal-hyperplasia/?&gender=Both

Congenital Adrenal Hyperplasia: Practice Essentials, Background, PathophysiologyCongenital Adrenal Hyperplasia: Practice Essentials, Background, Pathophysiology

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. Related ... Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations ... Congenital adrenal hyperplasia caused by 11-beta-hydroxylase deficiency accounts for 5-8% of all congenital adrenal hyperplasia ...
more infohttps://emedicine.medscape.com/article/919218-overview

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - WikipediaCongenital adrenal hyperplasia due to 21-hydroxylase deficiency - Wikipedia

Testicular adrenal rest tumors[edit]. Infertility observed in adult males with congenital adrenal hyperplasia (CAH) has been ... "Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia". The ... Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in all its forms, accounts for over 95% of diagnosed cases of ... New MI (December 2004). "An update of congenital adrenal hyperplasia". Ann. N. Y. Acad. Sci. 1038: 14-43. Bibcode:2004NYASA1038 ...
more infohttps://en.wikipedia.org/wiki/21-hydroxylase_deficiency

What is congenital adrenal hyperplasia? | Zocdoc AnswersWhat is congenital adrenal hyperplasia? | Zocdoc Answers

Congenital adrenal hyperplasia is a genetic condition in which one of several proteins in the body that are involved in ... Congenital adrenal hyperplasia is a genetic condition in which one of several proteins in the body that are involved in ... The severity of congenital adrenal hyperplasia varies widely from child to child, so this will in part determine which ... Children with congenital adrenal hyperplasia, depending on the form, can have problems related to their sexual organs, because ...
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Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal HyperplasiaGiant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia

... S. Al-Bahri,1 A. Tariq,2 B. Lowentritt,1 and D. V. ... "Giant Bilateral Adrenal Myelolipoma with Congenital Adrenal Hyperplasia," Case Reports in Surgery, vol. 2014, Article ID 728198 ...
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Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal HyperplasiaAdrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

... Jennifer L. Flint1 and Jill D. Jacobson2 ... congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed ... that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland ... We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory ...
more infohttps://www.hindawi.com/journals/crie/2013/393584/abs/

Pseudohypoaldosteronism Masquerading as Congenital Adrenal Hyperplasia.Pseudohypoaldosteronism Masquerading as Congenital Adrenal Hyperplasia.

... old male infant presented with features suggestive of congenital adrenal hyperplasia (CAH). But on detailed investigation, he ... A 15-day- old male infant presented with features suggestive of congenital adrenal hyperplasia (CAH). But on detailed ...
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Congenital adrenal hyperplasia - ONACongenital adrenal hyperplasia - ONA

How can congenital adrenal hyperplasia be prevented?. Congenital adrenal hyperplasia is inherited in an autosomal recessive ... Are you sure your patient has congenital adrenal hyperplasia? What are the typical findings for this disease?. Congenital ... Nimkarn, S, Lin-Su, K. "Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia". Endocrinol Metab Clin NorthAm. vol. ... "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J ...
more infohttps://www.oncologynurseadvisor.com/pediatrics/congenital-adrenal-hyperplasia/article/620200/

congenital adrenal hyperplasia Disease Ontology Browser - DOID:0050811congenital adrenal hyperplasia Disease Ontology Browser - DOID:0050811

Synonyms: adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia; lipoid CAH ... congenital adrenal hyperplasia (DOID:0050811) Alliance: disease page Synonyms: adrenal hyperplasia 1; congenital lipoid adrenal ... Human Disease Modeled: congenital adrenal hyperplasia. Associated Mouse Gene: Cyp11b1 Allelic Composition. Genetic Background. ... Human Disease Modeled: congenital adrenal hyperplasia. Associated Mouse Gene: Star Allelic Composition. Genetic Background. ...
more infohttp://www.informatics.jax.org/disease/OMIM:201810

Understanding Congenital Adrenal Hyperplasia - NewYork-PresbyterianUnderstanding Congenital Adrenal Hyperplasia - NewYork-Presbyterian

Types of Congenital Adrenal Hyperplasia. There are two major types of congenital adrenal hyperplasia:. *Classic congenital ... What is Congenital Adrenal Hyperplasia?. Congenital adrenal hyperplasia (CAH) is a family of genetic disorders affecting the ... Some forms of congenital adrenal hyperplasia are more severe and cause adrenal crisis in the newborn due to loss of salt. In ... A child with congenital adrenal hyperplasia may also experience a decline in the adrenal glands production of aldosterone, ...
more infohttps://www.nyp.org/news/Understanding-Congenital-Adrenal-Hyperplasia

Congenital Adrenal Hyperplasia by Peter C. Hindmarsh, Kathy Geertsma | WaterstonesCongenital Adrenal Hyperplasia by Peter C. Hindmarsh, Kathy Geertsma | Waterstones

Buy Congenital Adrenal Hyperplasia by Peter C. Hindmarsh, Kathy Geertsma from Waterstones today! Click and Collect from your ... Congenital Adrenal Hyperplasia: A Comprehensive Guide (Paperback). Peter C. Hindmarsh (author), Kathy Geertsma (author) Sign in ... Congenital Adrenal Hyperplasia: A Comprehensive Guide addresses how hydrocortisone works, what can go wrong, and how to correct ...
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Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia | MedPage TodayCardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia | MedPage Today

Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia. A systematic review and meta-analysis. ... Individuals with congenital adrenal hyperplasia (CAH) require glucocorticoid therapy to replace cortisol and to control ... Source Reference: Tamhane S, et al "Cardiovascular and metabolic outcomes in congenital adrenal hyperplasia: A systematic ...
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Congenital Adrenal Hyperplasia (CAH): YourChild: University of Michigan Health SystemCongenital Adrenal Hyperplasia (CAH): YourChild: University of Michigan Health System

Congenital Adrenal Hyperplasia (CAH). What is Congenital Adrenal Hyperplasia (CAH)? Congenital Adrenal Hyperplasia (CAH) is a ... Hyperplasia is a medical word for an organ or tissue growing too large. In CAH, the adrenal glands grow bigger as they try to ... The adrenal glands are part of the endocrine system. The adrenal glands make hormones, chemical "messengers" that the body ... Adrenal refers to the adrenal glands, located at the top of the kidneys. ...
more infohttp://www.med.umich.edu/yourchild/topics/cah.htm

Congenital Adrenal Hyperplasia (CAH): YourChild: University of Michigan Health SystemCongenital Adrenal Hyperplasia (CAH): YourChild: University of Michigan Health System

Congenital Adrenal Hyperplasia (CAH): Diagnosis and Medications How is CAH diagnosed? The health care team uses newborn ... People with CAH should wear a Medic-Alert bracelet stating "Adrenal Insufficiency." Then, in an emergency, responders will know ... By receiving these in the proper amount, the adrenal gland will also not produce too much androgen. ...
more infohttp://www.med.umich.edu/yourchild/topics/cahdiag.htm
  • Methods 62 women with classical congenital adrenal hyperplasia (CAH) of variable severity took part in a qualitative retrospective interview that focused on the impact of CAH and its medical treatment, with an emphasis on childhood and adolescence. (montclair.edu)
  • Understanding of the molecular basis for it has been advanced in the last decade by better understanding of adrenal steroidogenesis as well as genetic studies of affected patients. (wikipedia.org)
  • CAH, a genetic disorder, is the most common adrenal gland disorder in infants and children, occurring in one in 10,000 total births worldwide. (encyclopedia.com)
  • CAH is diagnosed by a careful examination of the genitals and blood and urine tests that measure the hormones produced by the adrenal gland. (encyclopedia.com)
  • Similar to the adrenal gland, cholesterol accumulation damages the Leydig cells of the testes. (wikipedia.org)
  • Also of note, enlargement of the adrenal gland is not always found in the patient, especially in cases where a mutation in the gene for P450scc is the cause. (wikipedia.org)
  • Objectives To perform a qualitative study of stigma experienced in medical settings by children and adolescents with congenital genital ambiguity (CGA). (montclair.edu)
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