Version May 2024
| Disorder | Defective gene | Atypical genital appearance | Risk of adrenal crisis | Incidence (general population) | Elevated steroid metabolites | |
| XX (virilization) | XY (undervirilization) | |||||
| 21-hydroxylase deficiency | CYP21A2 | + | – | + | 1:11,000 to 1:23,000 | 17-OHP |
| 11-beta-hydroxylase deficiency | CYP11B1 | + | – | Rare | 1:100,000 | DOC; 11-deoxycortisol May also have mild elevation of 17-OHP |
| 3-beta-hydroxysteroid dehydrogenase deficiency | HSD3B2 | + (mild or absent) | + | + | Rare | DHEA; 17-hydroxypregnenolone May also have mild elevation of 17-OHP |
| 17-alpha-hydroxylase deficiency | CYP17A1* | Typical female genital appearance, but no puberty | + | No | Rare | DOC; corticosterone |
| P450 oxidoreductase deficiency | POR¶ | + | + | + | Very rare | 17-OHP, progesterone, and pregnenolone |
| Lipoid congenital adrenal hyperplasia | STAR | Typical female genital appearance, but no puberty | + (usually typical female external genital appearance) | + | Very rare | None |
| P450scc deficiency | CYP11A1 | Typical female genital appearance, but no puberty | + (usually typical female external genital appearance, sometimes with clitoromegaly) | + | Very rare | None |
CYP21A2: steroid 21-hydroxylase; 17-OHP: 17-hydroxyprogesterone; CYP11B1: steroid 11-beta-hydroxylase; DOC: deoxycorticosterone; HSD3B2: 3-beta-hydroxysteroid dehydrogenase 2; DHEA: dehydroepiandrosterone; CYP17A1: steroid 17-hydroxylase, 17,20-lyase; POR: cytochrome P450 oxidoreductase; STAR: steroid acute regulatory protein; P450scc: cytochrome P450 side-chain cleavage enzyme; CYP11A1: cytochrome P450 side-chain cleavage gene.
* CYP17A1 encodes an enzyme that catalyzes both the 17-hydroxylase reaction, which forms 17-hydroxysteroids, and the 17,20-lyase reaction, which cleaves 21-carbon 17-hydroxysteroids to 19-carbon 17-keto androgen precursors.
¶ POR encodes a cofactor for 17-alpha-hydroxylase, 21-hydroxylase, and aromatase.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
