hrp0084p2-174 | Adrenals | ESPE2015

Clinical, Biochemical and Molecular Characteristics of the Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Croatia

Dumic Miroslav , Krnic Nevena , Kusec Vesna , Grubic Zorana , Stingl Katarina , Yuen Tony , Kubat Katja Dumic , Skrabic Veselin , New Maria I

Background: Nonclassical congenital adrenal hyperplasia (NCCAH) due to mild 21-hydroxylase deficiency is caused by mutations of the CYP21A2 gene located on chromosome 6p21.3.Objective and hypotheses: To determine cut-off for basal and stimulated 17-hydroxyprogesterone (17-OHP) levels, to evaluate CYP21A2 gene mutations frequency among Croatian NCCAH patients, to determine correlation between 17-OHP levels and genotype and to evaluate co...