Profile of children with congenital adrenal hyperplasia--a hospital study.

OBJECTIVE: To collect baseline information on congenital adrenal hyperplasia (CAH) and to identify relevant issues specific to this disease in Pakistan. METHODS: A retrospective analysis of medical records of pediatric patients registered for serum 17 hydroxyprogesterone (17-OHP) measurement and documented to have CAH in the period 1987 to 1998 was carried out at The Aga Khan University, Karachi (AKU). The clinical notes were reviewed for documentation of CAH as the diagnosis. RESULTS: Of the 152 children registered for 17-OHP testing, sixty-three were diagnosed with CAH. Salt wasting, simple virilization and non-classical CAH was found in 40 (63%), 18 (29.0%) and 5 (8.0%) patients respectively. Twenty-one (33.9%) patients were incorrectly assigned sex and of these, 20 (32.2%) patients were females who were either considered males or just not assigned gender. Parental consanguinity was found in 33 (52.3%) cases. No case had a history of similar features in either parent but in 19 (30.6%) cases similar features were present in siblings. Sixteen cases (25.4%) had a history of sibling death in the neonatal period and 7 had a history of sibling death in infancy. Maternal obstetric histories identified 3 (4.8%) cases with a history of still birth(s) and 4 (6.4%) with a history of abortion(s). CONCLUSION: Children with CAH should be diagnosed early as a rational and judicious choice of sex assignment is a critical aspect of treatment. The high rate of consanguinity emphasized the need to establish the true incidence of the defect in Pakistani population.