Congenital adrenal hyperplasia Due to 21-hydroxylase deficiency: consequences of delayed diagnosis - can it be prevented?

Abstract

Abstract Objective: To determine consequences of delayed diagnosis in children with congenital adrenal hyperplasia due to 21 -hydyroxylasc deficiency. Design: Paiicnis arc. drawn from s retrospective cohort study conducted on all patients with congenital adrenal hyperplasia. Setting: Pediatric Endocliine ' 'nit. King Khaliri University Hospital. Riyadh, Saudi Arabia. Results: Sixty-two children wiih 21-hydroxylase deficiency were involved. Twenty-one (33.9%) were males and 41 (66.1%) females. Consanguinity was documented in 30 (62.5%), similar disorders in the same family in IS (37.5%). more than one affected child in 12(25%) and neonatal and infant deaths in 22 (45.8%) families. The mean age ut diagnosis was U 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 male* except one presented initially with salt-losing crises Ambiguity of Uie genitalia of variable degrees was present in all females. This led to wiong sex assignment in 20 i4B.%%). Sex reassignment was rejected for socio-cultural reasons in 7 (35%) precocious puberty and ultimate short stanire were present in 5 patients (8.1%). Conclusion: These results indicate mat in the absence of clinical awareness and newborn screening, diagnosis is often delayed. Physicians* awareness and active measures towards establishing neonatal screening programs are urgently required. Prenatal diagnosis and deAamethasone therapy arc also highly recommended for families at risk to prevent severe virilization in females with this disorder.