DefinePK

Abstract

Congenital adrenal hyperplasia (CAH) is a disorder of steroid genesis due to deficiency of enzymatic activities necessary for its synthesis. It is a recessively inherited disorder and has an average incidence of 1:5000, the most common of these is 21-hydroxylase deficiency that accounts for 95% of involved cases1. Females with classical 21-hydroxylase deficiency, being exposed to excess androgens prenatally, are born with virilized external genitalia2,3. By associating the genotype with phenotype will enable the clinicians to predict the clinical outcome in affected patients.