Annals of Saudi Medicine · 1995 · 30 citations · 18 references
MedicineEndocrinologyPediatricsNeonatologyPediatric EndocrinologySteroid BiochemistryAdrenal DisordersCongenital DisordersCongenital Endocrine DisordersEnzyme DeficienciesPediatric Endocrine DisordersSteroid Metabolism Disorders11-Beta-hydroxylase Deficiency11-Beta-hydroxysteroid Dehydrogenase Deficiency3 Alpha-hydroxysteroid DehydrogenaseNeonatal Metabolic ScreeningNeonatal ScreeningPediatric Adrenal DisordersSteroidogenic Enzyme DefectsSteroidogenic Enzyme Deficiency
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.
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The Metabolic Basis of Inherited Diseases
R.K. Winkelmann · Archives of Dermatology · 1972 · 1.8K citations