hrp0089p2-p009 | Adrenals and HPA Axis P2 | ESPE2018

Phenotype-genotype Correlations of CYP21A2 Mutations in Patients with Congenital Adrenal Hyperplasia in Turkey

Simsek Enver , Binay Cigdem , Cilingir Oguz , Demiral Meliha , Hazer Ilhan , Artan Sevilhan

Background: Mutations in the 21-hydroxylase gene (CYP21A2) accounts for 90–95% of all congenital adrenal hyperplasia (CAH) cases. There is a strong relationship between genotype and disease severity.Objective: The aim of the study was to investigate the most frequent known mutations in CYP21A2 and to describe the genotype-phenotype correlation in Turkish children with CAH due to 21-hydroxylase deficiency.Methods: Based on clin...