Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders mainly due to defects in the 21-hydroxylase (CYP21) gene. We aimed to perform a genotype-phenotype analysis in Romanian patients with classical 21-hydroxylase deficiency.Patients and methods: We included 42 patients (13 males, 29 females, 19 with the salt wasting (SW) form, 29 with the simple virilizing (SV) form. Molecular analysis was performed by direct sequencing of PCR ampl...