ESPE Abstracts

Background: Congenital hypothyroidism (CH) is the most important cause of preventable mental retardation. Therefore, screening programme has been using for early detection of hypothyroidism in our country since 2007.Objective: To compare clinical features of newborns with and without CH who were detected in screening programme between 2009 and 2014.Method: This study enrolled 710 (344 Girls) newborn referred from CH-screening progr...

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...