Table 2.
Manifestations and clinical signs in 55 studied patients with 21-hydroxylase deficiency
| Phenotype | Salt-wasting (n = 21) |
Simple virilizing (n = 18) |
Non-classic (n = 16) |
|---|---|---|---|
| Age of diagnosis | 13.4 ± 6.3 days | 12.8 ± 3.4 months | 13.6 ± 3.7 years |
| Gender (n) | 18F/3 M | 10F/8M | 15 F/1 M |
| Hyponatremia and hyperkalemia at presentation (n) | 14F/1 M | 0 | 0 |
| Neonatal virilization (n) | 17F | 8F | 0 |
| Macrogenitosomy (n) | 2 M | 4 M | 1 M |
| Scrotal hyperpigmentation (n) | 3 M | 7 M | 1 M |
| Bone age accelerated (n) | 2F | 2F/1 M | 3F |
| Early pubarche (n) | 0 | 3F | 3F |
| Hirsutism (n) | 0 | 0 | 8F |
| Precocious pseudo-puberty (n) | 0 | 2F/1 M | 0 |
| Tall stature (n) | 0 | 5F/1 M | 0 |
| Acne (n) | 0 | 1F | 2F |
| Menstrual disorders (n) | 1F | 1F | 6F |
F female, M Male