21-Hydroxylase deficiency: clinical features, laboratory profile and pointers to diagnosis in Indian children.

We evaluated clinical features, laboratory profile and pointers to diagnosis of 21-hydroxylase deficiency in children presenting to the Pediatric Endocrine Clinic of our hospital from 1990 to 2002. Of the 94 patients included in the study 46 had salt wasting form (SW, 21 girls), 44 simple virilizing form (SV, 34 girls) and 4 non-classical form of the disease (NC, all girls). No difference was observed in the mean (95% confidence interval) age at diagnosis in boys and girls with salt wasting (2.3 mo (0.7-3.9 mo) against 1.3 mo (0.9-1.7 mo), p not significant) despite the presence of genital ambiguity in all girls at birth. Diagnosis of salt wasting was missed at admission in 18 boys (72%) and 3 girls (14.3%) highlighting the need for high index of suspicion for the disorder. Eight patients with 46 XX karyotype (14.5%) had male-like external genitalia with cryptorchidism emphasizing the need for evaluation of boys with cryptorchidism for female pseudohermaphroditism. Our study reiterates the need for early recognition and management of 21-hydroxylase deficiency in children in countries where neonatal screening programs are not feasible.