Endocrine Abstracts

Background: Congenital adrenal hyperplasia, (CAH) is a common autosomal recessive condition, 95% of which is attributable to mutations in the 21-hydroxylase (CYP21) gene. There is a wide range of clinical features and genotype phenotype correlations for common mutations are well described.Case: EG presented to the endocrine clinic at the age of 3.5 years with pubarche of 6 months duration and Tanner staging of PH3, B1and clitoromegaly (Prader stage 1) Ur...