Table 2 Manifestations and clinical signs in 55 studied patients with 21-hydroxylase deficiency
From: Molecular diagnosis of patients with congenital adrenal hyperplasia due to 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 |