Version May 2024
| Disease | 21-hydroxylase deficiency | 11-beta-hydroxylase deficiency | 17-alpha-hydroxylase deficiency | 3-beta-hydroxysteroid dehydrogenase deficiency | Lipoid hyperplasia |
| Defective gene (protein) | CYP21A2 (P450 21A2) | CYP11B1 (P450 11B1) | CYP17A1 (P450 17A1) | HSD3B2 (3-beta-HSD type 2) | STAR (StAR) |
| Atypical genitalia | + in females | + in females | + in males | + in males | + in males |
| No puberty in females | Mild in females | No puberty in females | |||
| Addisonian crisis | + | Rare | No | + | ++ |
| Incidence (general population) | 1:11,000 to 23,000* | 1:100,000 | Rare | Rare | Rare |
| Hormones | |||||
| Glucocorticoids | ↓ | ↓ | Corticosterone normal | ↓ | ↓ |
| Mineralocorticoids | ↓ | ↑ | ↑ | ↓ | ↓ |
| Androgens | ↑ | ↑ | ↓ | ↓ in males | ↓ |
| ↑ in females | |||||
| Estrogens | Normal, but ↑ androgen/estrogen ratio | Normal, but ↑ androgen/estrogen ratio | ↓ | ↓ | ↓ |
| Physiology | |||||
| Blood pressure | ↓ | ↑ | ↑ | ↓ | ↓ |
| Na balance | ↓ | ↑ | ↑ | ↓ | ↓ |
| K balance | ↑ | ↓ | ↓ | ↑ | ↑ |
| Acidosis | + | ± Alkalosis | ± Alkalosis | + | + |
| Elevated steroid metabolites | 17OHP | DOC, 11-deoxycortisol | DOC corticosterone | DHEA, 17-delta-5-hydroxypregnenolone | None |
آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
