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-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.
Al-Jurayyan
N A
NA
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.
Al-Herbish
A S
AS
Abo Bakr
A M
AM
Al-Rabeeah
A A
AA
Al-Samarrai
A I
AI
Jawad
A J
AJ
Patel
P J
PJ
Abdullah
M A
MA