Congenital adrenal hyperplasia in a referral hospital in Saudi Arabia: Epidemiology, pattern and clinical presentation

ABSTRACT

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 four [4.8%] showed deficiency of 3-Beta-hydroxysteroid dehydrogenase. The consanguinity rate was high [71.2%] and positive family history was documented in 45.8%. Thirty-nine infant deaths occurred within 25 families. The diagnosis was often delayed. Of the 52 females, 27 [52%] were initially assigned male sex. These results indicate the importance of physicians' awareness and the need for a neonatal screening program for early detection and appropriate management