CONGENITAL ADRENAL-HYPERPLASIA IN A REFERRAL HOSPITAL IN SAUDI-ARABIA- EPIDEMIOLOGY, PATTERN AND CLINICAL PRESENTATION

Eighty-two children (30 males and 52 females) with congenital adrenal hyperplasia (CAH) were seen at King Khalid University Hospital (KKUH) over a 10-year period. Of these, 74 (90.2%) were Saudis and eight (9.8 %) non-Saudis. Fifty-nine (72%) patients were 21-hydroxylase deficient . Of these, 56 (95%) had variable degrees of salt depletion. Nineteen (23.2%) patients had a deficiency of 11-beta-hydroxylase enzyme and fo ur (4.8%) showed deficiency of 3-beta-hydroxysteroid dehydrogenase. Th e consanguinity rate was high (71.2%) and positive family history was documented in 45.8%. Thirty-nine infant deaths occurred within 25 fami lies. The diagnosis was often delayed. Of the 52 females, 27 (52%) wer e initially assigned male sex. These results indicate the importance o f physicians' awareness and the need for a neonatal screening program for early detection and appropriate management.