ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder in which more than 90% of CAH cases are caused by mutations of the 21-hydroxylase (CYP21A2) gene.Objective and hypotheses: To determine the mutational spectrum in Egyptian CAH patients attending Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU) including family members of CAH patients.Method: The use of reverse hybridization assay for the mol...