CONGENITAL ADRENAL-HYPERPLASIA - DUE TO 21-HYDROXYLASE DEFICIENCY - CONSEQUENCES OF DELAYED DIAGNOSIS - CAN IT BE PREVENTED

Objective: To determine consequences of delayed diagnosis in children with congenital adrenal hyperplasia due to 21-hydyroxylase deficiency. Design: Patients are drawn from a retrospective cohort study conducte d on all patients with congenital adrenal hyperplasia. Setting: Pediat ric Endoctrine Unit, King Khalid University Hospital, Riyadh, Saudi Ar abia. Results: Sixty-two children with 21-hydroxylase deficiency were involved. Twenty-one (33.9%) were males and 41 (66.1%) females. Consan guinity was documented in 30 (62.5%), similar disorders in the same fa mily in 18 (37.5%), more than one affected child in 12 (25%) and neona tal and infant deaths in 22 (45.8%) families. The mean age at diagnosi s was 0.6 year (range; 0-8.5) for males and 0.4 year (range; 0-6) for females. Of the total, 57 (92% were salt losers. All males except one presented initially with salt-losing crises. Ambiguity of the genitali a of variable degrees was present in all females. This led to wrong se x assignment in 20 (48.8%). Sex reassignment was rejected for socio-cu ltural reasons in 7 (35%) precocious puberty and ultimate short statur e were present in 5 patients (8.1%). Conclusion: These results indicat e that in the absence of clinical awareness and newborn screening, dia gnosis is often delayed. Physicians' awareness and active measures tow ards establishing neonatal screening programs are urgently required. P renatal diagnosis and dexamethasone therapy are also highly recommende d for families at risk to prevent severe virilization in females with this disorder.