21-Hydroxylase and 11β-Hydroxylase Mutations in Romanian Patients with Classic Congenital Adrenal Hyperplasia

Abstract

The present study is the first countrywide report of mutational analysis in a Romanian patient population with 21-hydroxylase deficiency. Molecular diagnosis was performed in a small number of CAH patients proved not to suffer from 21-hydroxylase deficiency but from 11beta-hydroxylase deficiency, and a new mutation was identified.