title: 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-ss-hydroxylase enzyme and four (4.8%) showed deficiency of 3-ss-hydroxysteroid dehydrogenase. The consanguinity rate was high (71.2%) and positive family history was documented in 45.8%. Thirty-nine infants 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.
authors.affiliation: Division of Pediatric Endocrinology, Division of Pediatric Surgery, Department of Radiology, College of Medicine, King Saud University, Riyadh, and Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: N A
authors.initials: NA
authors.lastname: Al-Jurayyan
authors.forename: A S
authors.initials: AS
authors.lastname: Al-Herbish
authors.forename: A M
authors.initials: AM
authors.lastname: Abo Bakr
authors.forename: A A
authors.initials: AA
authors.lastname: Al-Rabeeah
authors.forename: A I
authors.initials: AI
authors.lastname: Al-Samarrai
authors.forename: A J
authors.initials: AJ
authors.lastname: Jawad
authors.forename: P J
authors.initials: PJ
authors.lastname: Patel
authors.forename: M A
authors.initials: MA
authors.lastname: Abdullah