Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
Thus, common symptoms include mild cortisol deficiency, ambiguous genitalia in men or amenorrhea at puberty in women, and hypokalemic hypertension.It accounts for less than 5% of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of about 1 in 1,000,000 births.Like other forms of CAH, 17α-hydroxylase deficiency impairs the efficiency of cortisol synthesis, resulting in high levels of ACTH secretion and hyperplasia of the adrenal glands.At the expected time of puberty neither the adrenals nor the ovaries can produce sex hormones, so neither breast development nor pubic hair appear.Testing yields elevated gonadotropins and normal karyotype, while imaging confirms the presence of ovaries and an underdeveloped uterus.Discovery of hypertension and hypokalemic alkalosis usually suggests the presence of one of the proximal forms of CAH, and the characteristic mineralocorticoid elevations confirm the specific diagnosis.[citation needed] In women with mild cases, elevated blood pressure and/or infertility is the presenting clinical problem.17α-hydroxylase deficiency in genetic males results in moderate to severe reduction of fetal testosterone production by adrenal glands and testes.[12] In these people the defect had the effect of an isolated impairment of sex steroid (e.g., DHEA in the adrenal, but also gonadal testosterone and estrogens) synthesis, whereas mineralocorticoid (e.g., aldosterone) and glucocorticoid (e.g., cortisol) levels remain normal.That is, in the beginning, 17,20-lyase deficiency will block synthesis of sex steroid hormones, forcing the pathways to produce more cortisol.
SpecialtyEndocrinologyobstetrics and gynaecologymedical geneticscongenital adrenal hyperplasiaCYP17A1enzymecortisolsex hormonesmineralocorticoidcortisol deficiencyambiguous genitaliaamenorrheahypokalemichypertensioninfertilitypregnenoloneprogesterone17α-hydroxylaseautosomal recessivehyperplasiamineralocorticoidspubertalsteroidogenesisendoplasmic reticulumadrenal cortexgonadssex hormone17α-hydroxypregnenolone17α-hydroxyprogesteroneandrostenedionecorticosterone18-hydroxycorticosteronealdosteronehypokalemiametabolic alkalosisglucocorticoidadrenal crisispubertygonadotropinsalkalosisTanner scaleovulationtestosteroneUndervirilizationgenitaliaphallusperinealhypospadiasinguinalWolffian ductgynecomastiainsensitivityIsolated 17,20-lyase deficiencysex steroidorchiopexyCytochrome b5 deficiencyInborn errors of steroid metabolismDisorders of sexual developmentOnline Mendelian Inheritance in ManeMedicineDiseasesDBAdrenal gland disorderHyperfunctionHyperaldosteronismPrimary aldosteronismConn syndromeBartter syndromeGlucocorticoid remediable aldosteronismLiddle's syndrome17α CAHPseudohypoaldosteronismCushing's syndromePseudo-Cushing's syndromeSteroid-induced osteoporosis21α CAH11β CAHHypoaldosteronismLipoidAdrenal insufficiencyAdrenalitisXanthogranulomatousAddison's diseaseWaterhouse–Friderichsen syndromeMevalonatepathwayHMG-CoA lyase deficiencyHyper-IgD syndromeMevalonate kinase deficiencycholesterol7-DehydrocholesterolHydrops-ectopic calcification-moth-eaten skeletal dysplasiaCHILD syndromeConradi–Hünermann syndromeLathosterolosisSmith–Lemli–Opitz syndromedesmosterolDesmosterolosisSteroidsCorticosteroidcortisoneCAH 11β-hydroxylaseCAH 3β-dehydrogenaseCAH 21-hydroxylaseApparent mineralocorticoid excess syndrome/11β-dehydrogenaseandrogens17,20-Lyase deficiency3β-Hydroxysteroid dehydrogenase deficiency17β-Hydroxysteroid dehydrogenase deficiency5α-reductase 2 deficiencyestrogensAromatase deficiencyAromatase excess syndromeX-linked ichthyosisAntley–Bixler syndrome