Table 6.
Congenital Adrenal Hyperplasia
| Disorder | Affected gene and chromosome | Signs and symptoms |
|---|---|---|
| 21-Hydroxylase deficiency (classic) | CYP21 | Glucocorticoid deficiency |
| 6p21.3 | Mineralocorticoid deficiency (salt-wasting) | |
| Adrenal androgen excess (Ambiguous genitalia in females; Postnatal virilization in males) | ||
| 11-Beta-hydroxylase deficiency | CYP11B1 | Hypertension |
| 8q24.3 | Glucocorticoid deficiency | |
| Mineralocorticoid deficiency (salt-wasting) | ||
| Adrenal androgen excess (ambiguous genitalia in females; Postnatal virilization in males and females) | ||
| 3-Beta-hydroxysteroid dehydrogenase deficiency (classic) | HSD3B2 | Adrenal androgen excess (ambiguous genitalia) |
| 1p13.1 | Disordered puberty (precocious adrenarche) | |
| Cortisol deficiency (with adequate corticosterone) | ||
| 17-Alpha-hydroxylase | CYP17 | Ambiguous genitalia in males |
| 17–20 Lyase deficiency | 10q24.3 | Sexual infantilism |
| Hypertension | ||
| Cortisol deficiency |