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.17-Ketosteroids: Steroids that contain a ketone group at position 17.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.Endometrial Hyperplasia: Benign proliferation of the ENDOMETRIUM in the UTERUS. Endometrial hyperplasia is classified by its cytology and glandular tissue. There are simple, complex (adenomatous without atypia), and atypical hyperplasia representing also the ascending risk of becoming malignant.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)Focal Nodular Hyperplasia: Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. The nodule, poorly encapsulated, consists of a central stellate fibrous scar and normal liver elements such as HEPATOCYTES, small BILE DUCTS, and KUPFFER CELLS among the intervening fibrous septa. The pale colored central scar represents large blood vessels with hyperplastic fibromuscular layer and narrowing lumen.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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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 (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
TY - JOUR. T1 - DOT‐17α‐HYDROXYPROGESTERONE RADIOIMMUNOASSAY FOR IDENTIFICATION OF CONGENITAL ADRENAL HYPERPLASIA IN YOUNG INFANTS. AU - SÓLYOM, J.. AU - HERVEI, SAROLTA. AU - MAROSSY, P.. AU - SóLYOM, ENIKö. AU - BABOSA, MÁRIA. AU - SZOMBATHY, G.. PY - 1981/12. Y1 - 1981/12. N2 - Abstract. Sólyom, J., Hervci, S., Marossy, P., Sólyom, E., Babosa, M. and Szombathy, G. (2nd Dept. of Paediatrics, Semmelweis Med. Univ., Budapest, Childrens Hosp., Miskolc, "Heim Pál" Childrens Hosp., Budapest, County Hosp., Paediatric Dept., Nyiregyháza; Hungary). Dot‐17α‐hydroxyprogesterone radioimmunoassay for identification of congenital adrenal hyperplasia in young infants. Acta Paediatr Scand, 70: 913, 1981.‐Using a simplified radioimmunoassay method for the determination of 17‐hydroxyprogesterone (17‐OHP) concentration in blood dried on filter paper seven untreated cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal ...
We offer to book Congenital Adrenal Hyperplasia (CAH) Test online for Newborn Screening. View Congenital Adrenal Hyperplasia (CAH) Test cost, pre test information and report availability on trutestlab.com. Home collection of blood sample is also available at our centers.
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 ...
Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency ...
Evaluation of Blood Pressure and Left Ventricular Parameters in Children with Classical Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: An Egyptian Experience Abstract.
3. Androgens, which are responsible for the development of secondary sexual characteristics (adrenarche) in both males and females.. All three of these adrenal hormones are necessary for normal body functioning in both males and females. In patients with Congenital Adrenal Hyperplasia, the adrenal glands typically produce too little cortisol and aldosterone, while producing too much of the androgen hormones. Excess levels of androgens can cause atypical genitalia, growth abnormalities, early puberty, and problems with fertility. All infants born in the United States are screened for Congenital Adrenal Hyperplasia shortly after birth. If your child is diagnosed with Congenital Adrenal Hyperplasia, additional tests including blood tests and imaging tests, such as X-rays or ultrasounds, are often done. Ultimately, genetic testing is used to confirm the diagnosis.. CAH is a condition that requires long-term follow-up and monitoring. The treatment involves life-long cortisol with or without ...
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Introduction: 21-Hydroxylase deficiency is the most frequent form of congenital adrenal hyperplasia (CAH) which is a common autosomal recessive disorder characterized by impaired adrenocortical and adrenomedullary function, and adrenal hyperandrogenism. Chronic glucocorticoid therapy and excess androgen exposure in patients with CAH may predispose them to developing a metabolic syndrome in adulthood.Our objective is to evaluate the metabolic syndrome in adulthood in a Tunisian cohort.. Subjects and Methods: We underwent a prospective study of 26 patients over 16 years of old with CAH.. Results: The cases included 26 patients (M: 11, F: 15) with CAH due to 21-hydroxylase deficiency with a mean age of 27.4 years (16.5-48 years). Eighteen patients had the classical CAH form and the remaining 8 patients had the non-classical form. The mean body mass index was 26,9 ± 4,27 kg/m2 (20,3-34,8 kg/m2). The most commonly used drug was hydrocortisone which was used by 21 cases. Five cases had been managed ...
There is no clear consensus among state newborn screening programs on whether routine second screening of newborns identifies clinically relevant cases of congenital adrenal hyperplasia. This retrospective study evaluated laboratory practices, along with biochemical and medical characteristics of congenital adrenal hyperplasia (CAH) cases (1) detected on the first newborn screen in one-screen compared to two-screen states, and (2) detected on the first versus the second screen in the two-screen states, to determine the effectiveness of a second screen. A total of 374 confirmed cases of CAH from 2 one-screen states and 5 two-screen states were included in this study. Demographic data and diagnostic information on each reported case were collected and analyzed. Additionally, laboratory data, including screening methodologies and algorithms, were evaluated. The one-screen states reported 99 cases of CAH out of 1,740,586 (1 in 17,500) newborns screened: 88 (89%) identified on the first screen and 5 ...
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.
Classic congenital adrenal hyperplasia affects approximately 1 in 15,000 children. Current treatment strategies using multiple daily doses of hydrocortisone lead to suboptimal outcomes. We tested the hypothesis that nocturnal administration of dexamethasone will suppress the hypothalamic-pituitary-adrenal axis more effectively than standard hydrocortisone treatment by blocking the inherent diurnal secretion of ACTH. We performed a pilot study of five prepubertal patients comparing CAH control during two 24-hour hospitalizations, one on hydrocortisone and the other on dexamethasone. The patterns of adrenal suppression differed markedly between hydrocortisone and nocturnal dexamethasone, with significant suppression of the morning rise in ACTH, 17-hydroxyprogesterone, and androstenedione while on dexamethasone. On hydrocortisone therapy, there is a marked variation in ACTH and adrenal hormones depending on time of day and timing of hydrocortisone administration. Longer-term studies are needed to
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 ...
there may be clinical and laboratory finding. The aim was to evaluate the epidemiology and clinical finding of CAH. The clinical and laboratory characteristics of 68 patients with CAH who were managed in the pediatric Endocrinology unit of Imam Reza Hospital during 7 years were recorded in this study; the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated in 68 patients admitted Imam Reza Hospital in Mashed, also one patient has been followed in endocrine and metabolism pediatric clinic in this time, during 6 years retrospectively and I year prospectively. Parental consanguinity rate among families of patients was higher than the general population in Mashad [73.8% vs 30%]. In 44.6% of patients the history of disease were positive in sibling.52.2% of patients were males and 47.8% females.21- Hydroxylase deficiency was present in 60 patients [88.2%], salt - losing form in 40 [66.7%] and simple virilizing form in 20 [33.3%] of them.11- beta hydroxylase ...
To determine the glucocorticoid receptor (GC-R) status in congenital adrenal hyperplasia (CAH) we examined 11 patients (5 female, 6 male) with 21-hydroxylase deficiency and 3 patients (2 female, 1 male) with 11 beta -hydroxylase deficiency, The mean age at investigation was 8.9+/-3.5 yr, Age of diagnosis was 4.4+/-3.2 yr and all patients were being treated with hydrocortisone, The control group included 10 (5 female, 5 male) age-matched healthy children. Blood samples were drawn at 0800 a.m. after an overnight fast in all subjects and after 5 days off treatment in patients with CAH. Serum cortisol tin all children), and serum 17-hydroxyprogesterone and androstenedione tin the patient group) were measured by radioimmunoassay, Mononuclear leukocytes were isolated from peripheral blood and the binding of [H-3]dexamethasone to GC-R was examined. GC-R number and the dissociation constant (Kd), which is inversely proportional to its binding affinity, were determined, Mean GC-R numbers were 5814+/-1574 ...
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 ...
Поздние осложнения классической формы врожденной дисфункции коры надпочечников и ее неадекватного лечения у мужчин (клинический случай с обзором литературы)
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.. ...
Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented with a frontal headache and marked right-sided proptosis. Laboratory findings demonstrated androgen excess with a testosterone of 18.1 nmol/L (0-1.5 nmol) and 17-Hydroxyprogesterone ,180 nmol/L (,6.5 nmol/L). CT abdomen was performed as the patient complained of rapid-onset increasing abdominal girth and revealed bilateral large adrenal myelolipomata. MRI brain revealed a large meningioma involving the right sphenoid wing with anterior displacement of the right eye and associated bony destruction. Surgical debulking of the meningioma was performed and histology demonstrated a meningioma, which stained ...
Introduction: The diagnosis of Congenital Adrenal Hyperplasia (CAH) is a challenge due to the complexity of its pathophysiology and the variety of clinical manifestations. Female newborns (NB) with classical forms present virilization of the external genitalia while in boys it is usually normal. Salt-losers boys and girls are highly susceptible to develop acute adrenal insufficiency and death in the first weeks of life; for these reasons, Neonatal Screening (NS) programs have included CAH among the diseases surveyed. In the State of Parana, Brazil, NS for CAH started in 2013.. Objectives: To determine the prevalence of CAH in Parana; to characterize interfering factors related to false positive results for CAH; and to determine sensitivity, specificity, accuracy, positive and negative predictive values and false positive rate of the 17-OHP dosing method.. Patients and methods: Clinical and laboratorial evaluation of NB tested positive for CAH in the period of August/2013-July/2016; 17-OHP in ...
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 ...
Congenital hyperplasia of the adrenal glands is a rare pathology, which can have an impact on male fertility. We report 2 cases of azoospermia in patients followed for a classical form of congenital adrenal hyperplasia. 1st case: After 18 months of infertility of the couple, explorations showed a high level of ACTH on the hormonal biological analysis. A therapeutic strategy combining hydrocortisone with dexamethasone induced a normal semen analysis, and the female partner of the patient subsequently had three spontaneous pregnancies. 2nd case: After two years of infertility of the couple, explorations showed adrenal testicular inclusions invading the 4/5th of the testis with a hypergonadotropic hypogonadism, the therapeutic reinforcement did not allow the improvement of semen analysis. Sertolian deficiency can be explained by: gonadotropic deficiency by excess of adrenal androgens and adrenal testicular lesions (risk of major spermatic alteration). Congenital hyperplasia of the adrenal glands is a rare
Meningioma growth has been previously described in patients receiving oestrogen/progestogen therapy. We describe the clinical, radiological, biochemical and pathologic findings in a 45-year-old woman with congenital adrenal hyperplasia secondary to a defect in the 21-hydroxylase enzyme who had chronic poor adherence to glucocorticoid therapy with consequent virilisation. The patient presented with a frontal headache and marked right-sided proptosis. Laboratory findings demonstrated androgen excess with a testosterone of 18.1 nmol/L (0-1.5 nmol) and 17-Hydroxyprogesterone ,180 nmol/L (,6.5 nmol/L). CT abdomen was performed as the patient complained of rapid-onset increasing abdominal girth and revealed bilateral large adrenal myelolipomata. MRI brain revealed a large meningioma involving the right sphenoid wing with anterior displacement of the right eye and associated bony destruction. Surgical debulking of the meningioma was performed and histology demonstrated a meningioma, which stained ...
Congenital adrenal hyperplasia (CAH) is a problem that affects how the adrenal glands work. The adrenal glands need an enzyme to make certain hormones. Children with CAH are missing or have low levels of this enzyme.. The hormones produced by the adrenal glands affect nearly every organ in the body. They help the body cope with stress, hold salt and water, and maintain blood pressure. They also affect sexual development.. CAH is a problem that is passed through genes. Most of the time its found during routine newborn blood tests.. When a child has CAH, he or she will need to take medicine each day to replace the missing hormones.. You may have just learned that your baby has CAH. You will get more information and support from the hospital staff. ...
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.
Molecular Identification of Intron 2 Splice Mutation and 8bp Deletion in CYP21 Gene for Congenital Adrenal Hyperplasia (CAH) Patients in Kashmir (North India) Abstract.
Learn about Congenital Adrenal Hyperplasia (CAH) symptoms and causes from experts at Boston Childrens, ranked best Childrens Hospital by US News.
Congenital adrenal hyperplasia (CAH) is an inherited autosomal recessive disorder characterized by insufficient production of cortisol. The aim of this case report was to present a child with CAH, premature exfoliation of primary teeth and accelerated eruption of his permanent teeth related to bone resorption. A 4.5-year-old Caucasian boy with CAH and long-term administration of glucocorticoids was referred for dental restoration. Clinical examination revealed primary molars with worn stainless steel crowns, severe attrition of the upper canines, and absence of the upper incisors. Before the completion of treatment, abnormal mobility of the first upper primary molars and the lower incisors was detected, and a few days later the teeth exfoliated prematurely. Histologic examination revealed normal tooth structure. Alkaline phosphatase and blood cells values were normal. Eruption of the permanent dentition was also accelerated. Tooth mobility was noticed in the permanent teeth as soon as they erupted,
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...
Congenital Adrenal Hyperplasia causes a cortisol deficiency in infants, children and adolescents and can be treated by Pediatric Endocrine Associates
The details of bibliography - Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period
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.
TY - JOUR. T1 - Congenital adrenal hyperplasia. AU - White, P. C.. AU - New, M. I.. AU - Dupont, B.. PY - 1987. Y1 - 1987. UR - http://www.scopus.com/inward/record.url?scp=0023226909&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0023226909&partnerID=8YFLogxK. M3 - Article. C2 - 3295546. AN - SCOPUS:0023226909. VL - 316. SP - 1580. EP - 1586. JO - New England Journal of Medicine. JF - New England Journal of Medicine. SN - 0028-4793. IS - 25. ER - ...
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 ...
Classic congenital adrenal hyperplasia (CAH) involves a salt-wasting syndrome, most commonly due to 21-hydroxylase deficiency. Since 21 hydroxylase is not available to convert 17-hydroxyprogesterone to 11-deoxycortisol, there is a decreased synthesis of cortisol and therefore an increased secretion of corticotropin (ACTH). Decreased cortisol results in salt wasting while increased ACTH results in increased androgen synthesis. Both baby boys and girls experience salt wasting, but baby girls present virilized or with ambiguous genitalia. This is often diagnosed in the newborn nursery. Baby boys, however, appear normal, and may present in the first few weeks of life (typically) on the spectrum from vague symptoms of failure to thrive to an adrenal crisis ...
TY - JOUR. T1 - Adult Height and Fertility in Men with Congenital Virilizing Adrenal Hyperplasia. AU - Urban, Maria D.. AU - Lee, Peter. AU - Migeon, Claude J.. PY - 1978/12/21. Y1 - 1978/12/21. N2 - The effects of congenital adrenal hyperplasia on adult height and fertility were studied in 30 afflicted men. The patients heights ranged from 150.0 to 178.6 cm (mean ±1 S.D. of 164.0±7.6), which is significantly lower than both the mean adult height for American men and that of the patients parents (P,0.005). There was no correlation between adult height and the age at which therapy was begun, possibly because the patients treated before one year of age had the salt-losing form of the syndrome. Therapeutic compliance may also have been involved. Apparently normal fertility, indicated by paternity and normal sperm counts, was found in 18 out of 20 patients evaluated. This group included five untreated patients who were found to be fertile and to have normal plasma testosterone and gonadotropin ...
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 ...
... - Medical Progress from The New England Journal of Medicine - Congenital Adrenal Hyperplasia. review article. The new england journal of medicine n engl j
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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 ...
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: ...
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 ...
Measurements of 17α-hydroxypregnenolone are useful in the diagnosis of certain forms of congenital adrenal hyperplasia.[2] In ... while in patients with congenital adrenal hyperplasia due to 17α-hydroxylase deficiency levels are low to absent. ... patients with congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency 17α-hydroxypregnenolone is ... This step is performed by the mitochondrial cytochrome P450 enzyme 17α-hydroxylase (CYP17A1) that is present in the adrenal and ...
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 ...
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 ...
Various forms of congenital adrenal hyperplasia. Gonadotropin deficiency, resulting from a number of congenital and acquired ...
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 ...
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) > ...
Schnitzer JJ, Donahoe PK (2001). "Surgical treatment of congenital adrenal hyperplasia". Endocrinol Metab Clin N Am. 30: 137-54 ... Meyer-Bahlburg, H. F. L. (1 June 1999). "What Causes Low Rates of Child-Bearing in Congenital Adrenal Hyperplasia?". The ... A rarer indication would be that of a completely virilized XX child with congenital adrenal hyperplasia (Prader stage 5) being ... A child regarded as a severely virilized girl with congenital adrenal hyperplasia (CAH) may undergo both a partial clitoral ...
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 ...
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 ...
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 ...
Genetic females (with two X chromosomes) with congenital adrenal hyperplasia lack an enzyme needed by the adrenal gland to make ... "Congenital Adrenal Hyperplasia - National Library of Medicine". PubMed Health.. *^ Bostwick, J. M.; Martin, K. A. (2007). "A ...
Reichman DE, White PC, New MI, Rosenwaks Z (Feb 2014). "Fertility in patients with congenital adrenal hyperplasia". Fertil ... Diabetes mellitus,[35][36] thyroid disorders,[37] undiagnosed and untreated coeliac disease,[38][39][40][41] adrenal disease[42 ...
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 ...
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 ...
"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 ...
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; ...
... 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 ...
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 ...
"Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty?". J. Urol. 161 (5): 1588-91. doi:10.1016/ ... in a family with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency as well as in partial androgen ... Wisniewski AB, Migeon CJ, Gearhart JP, Rock JA, Berkovitz GD, Plotnick LP, Meyer-Bahlburg HF, Money J (2001). "Congenital ... Retief, F P; Cilliers, J F G (2003). "Congenital eunuchism and Favorinus". South African Medical Journal. 93 (1): 73-76. Mason ...
... -Deficient Congenital Adrenal Hyperplasia OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia ... Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, and occurs in approximately 1 in 15000 births globally ... Steroid disorders in children: congenital ad- renal hyperplasia and apparent mineralocorticoid excess. Proc Natl Acad Sci USA. ... Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics. 1998; ...
Males with congenital adrenal hyperplasia, determined by CYP21A2 mutations, have increased WHRs. A WHR of 0.9 for men and 0.7 ... and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency". European Journal of ... Adults with untreated congenital isolated growth hormone deficiency have increased WHRs, possibly from increased cortisone: ... The stress hormone cortisol is regulated by the hypothalamic-pituitary-adrenal (HPA) axis and has been associated with higher ...
As 21-Deoxycortisol can be a high levels in congenital adrenal hyperplasia, and it has structural similarity to cortisol it can ... It is a marker of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. The corticosteroid activity of 21- ... a marker of congenital adrenal hyperplasia, in blood by atmospheric pressure chemical ionization and electrospray ionization ...
Medical conditions that commonly cause a high-androgen state, such as polycystic ovary syndrome, congenital adrenal hyperplasia ... The adrenal glands secrete higher amounts of DHEA-S during adrenarche (a stage of puberty), and this leads to an increase in ...
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 ...
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 ...
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- ...
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 ...
Congenital Adrenal Hyperplasia (CAH) is a genetic disorder that affects the adrenal glands, which are two glands located just ... In patients with Congenital Adrenal Hyperplasia, the adrenal glands typically produce too little cortisol and aldosterone, ... All infants born in the United States are screened for Congenital Adrenal Hyperplasia shortly after birth. If your child is ... diagnosed with Congenital Adrenal Hyperplasia, additional tests including blood tests and imaging tests, such as X-rays or ...
... cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia ( ... cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia ( ... cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia ( ... cases of congenital adrenal hyperplasia were identified among newborns and infants at risk for congenital adrenal hyperplasia ( ...
Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states.. Held PK1, Shapira SK2, ... Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states. - PubMed - NCBI. Mol Genet ... Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states. - PubMed - NCBI ... 17-Hydroxyprogesterone; Congenital adrenal hyperplasia; Genetic testing; Newborn screening; Routine second screen ...
... 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 ...
View Congenital Adrenal Hyperplasia (CAH) Test cost, pre test information and report availability on trutestlab.com. Home ... We offer to book Congenital Adrenal Hyperplasia (CAH) Test online for Newborn Screening. ...
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 ...
What is adrenal rests? Meaning of adrenal rests as a legal term. What does adrenal rests mean in law? ... Definition of adrenal rests in the Legal Dictionary - by Free online English dictionary and encyclopedia. ... Testicular adrenal rest tumours in congenital adrenal hyperplasia.. A case of late stage bilateral testicular adrenal rest ... Only two cases were described as functional hepatic adrenal rest tumors, which can cause problems, including hyperplasia and ...
Terminology Testicular adrenal rests can be known by a variety of terms 2: testicular adrenal rest tumor (TART) testicular ... Testicular adrenal rests are a rare cause of a testicular mass. ... adrenal rest tissue testicular tumor of the adrenogeni... ... Testicular adrenal rest tissue in congenital adrenal hyperplasia: serial sonographic and clinical findings. AJR. American ... They are associated with patients with congenital adrenal hyperplasia and rarely in patients with Cushing syndrome. ...
... hormone aldosterone in various forms of adrenal insufficiency such as Addisons disease and congenital adrenal hyperplasia. It ...
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Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. ... Congenital adrenal hyperplasia can affect both boys and girls. About 1 in 10,000 to 18,000 children are born with congenital ... Congenital adrenal hyperplasia is the name given to a group of inherited disorders of the adrenal gland. ... People with congenital adrenal hyperplasia lack an enzyme the adrenal glands need to make the hormones. ...
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 ...
... 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). ...
I have M.E.N.1. I developed Adrenal Insufficiency, several yrs. ago, after too many surgeries & basically, my body went into ...
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 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 ...
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 ...
Congenital adrenal hyperplasia: lessons from a multinational study.. Frisch H1, Waldhauser F, Lebl J, Solyom J, Hargitai G, ... Adrenal Hyperplasia, Congenital/epidemiology. *Adrenal Hyperplasia, Congenital/genetics. *Adrenal Hyperplasia, Congenital/ ... Slovenia and Slovakia in order to investigate various aspects in children with congenital adrenal hyperplasia (CAH). Five ...
... 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 ...
... 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 ...
Share your story with this active Congenital Adrenal Hyperplasia community of thousands of participants. ... Discuss Congenital Adrenal Hyperplasia with the EndocrineWeb commiuntiy. ...
  • 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)
  • In its most severe form, called salt-wasting (or salt-losing) CAH, where there is a total or near total deficiency of the 21-hydroxylase enzyme, a life-threatening adrenal crisis can occur if the disorder is untreated. (encyclopedia.com)
  • 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)
  • All other cases of lipoid adrenal hyperplasia that have been studied have been found to be due to mutations of the gene for the primary protein that transports cholesterol into the mitochondria, StAR, encoded by a gene on chromosome 8p11.2 in the human. (wikipedia.org)
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