ESPE Abstracts

Background: More than 90% of cases of congenital adrenal hyperplasia (CAH) are associated with the occurrence of mutations in the CYP21A2 gene encoding 21-hydroxylase. The level of residual activity of 21-hydroxylase determines the clinical form and severity of the disease.Aim: To study the distribution of allelic variants of CAH due to 21-hydroxylase deficiency in different ethnic groups of Kazakhstani children.<p c...