Forms of CAH causing genital ambiguity in the newborn
| Type of CAH | StAR protein deficiency | 3β-HSD | 17α-OHD | 11β-OHD | 21-OHD |
|---|---|---|---|---|---|
| StAR protein, steroidogenic acute regulatory protein deficiency, otherwise known as lipoid hyperplasia/cholesterol desmolase deficiency; 3β-HSD, 3β-hydroxysteroid dehydrogenase deficiency; 17α-OHD, 17α-hydroxylase deficiency; 11β-OHD, 11β-hydroxylase deficiency; 21-OHD, 21-hydroxylase deficiency; DOC, 11-deoxycorticosterone; DHEA, dehydroepiandrosterone; 17-OHP, 17-hydroxyprogesterone; 17-OH-preg, 17-hydroxypregnenolone; A4, androstenedione. | |||||
| Genital ambiguity | ♂ | ♂ | ♂ | ♀ | ♀ |
| Salt wasting | Yes | Yes | Hypertension | Hypertension | Yes |
| Enzyme | P-450cc | 3β-HSD | P-450c17 | P-450c11 | P-450c21 |
| Steroids↑ | None | DHEA, 17-OH-preg | DOC, corticosterone | DOC, 11-deoxycortisol | 17-OHP, A4 |
| Steroids↓ | All | Aldosterone, testosterone, cortisol | Cortisol, testosterone | Cortisol | Cortisol, aldosterone |
| Defective gene | StAR | HSD3B2 | CYP17 | CYP11B1 | CYP21 |
| Chromosome | 8p11.2 | 1p13.1 | 10q24.3 | 8q24.3 | 6p21.3 |