hrp0092p2-5 | Adrenals and HPA Axis | ESPE2019

Clinical Phenotype and Genotype Association in Patients with 21-hydroxylase Deficiency

Aghayeva Asmar , Turan Hande , Toksoy Guven , Dagdeviren Cakir Aydilek , Berkay Ezgi , Gunes Nilay , Evliyaoglu Olcay , Uyguner Zehra Oya , Dundar Munis , Tuysuz Beyhan , Ercan Oya

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessively transmitted disease and 95% of CAH cases are due to 21-hydroxylase deficiency (21-OHD). There are more than 100 mutations that cause CAH due to 21-OHD and the clinical expression of the disease is reported to correlate with mutated alleles.The aim: The aim of this study was to investigate responsible mutations and then to evaluate genotype...

hrp0086p2-p397 | Gonads & DSD P2 | ESPE2016

A Nonvirilized form of Classic 3β-Hydroxysteroid Dehydrogenase Deficiency Due to a Homozygous S218P Mutation in the HSD3B2 Gene in a Girl with Classic Phenylketonuria

Alikasifoglu Ayfer , Buyukyilmaz Gonul , Nazli Gonc E. , Alev Ozon Z. , Kandemir Nurgun , Dundar Munis , Polat Seher , Pektas Emine , Dursun Ali , Sivri Serap , Tokatli Aysegul , Coskun Turgay

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....