hrp0084p1-134 | Turner & Puberty | ESPE2015

Co-Existing Variants of FOXE1 and BMP15 Genes in Young Females with Primary Ovarian Insufficiency: Evidence of Digenic Inheritance

Settas Nikolaos , Michala Lina , Deligeoroglou Efthimios , Chrysis Dionisios , Pampanos Andreas , Theochari Eleni , Valla Olympia , Sofocleous Christalena , Sofia Kitsiou , Fryssira Helen , Kanavakis Emmanuel , Dacou-Voutetakis Catherine , Chrousos George P , Voutetakis Antonis

Background: FOXE1 gene variants containing alterations in the alanine tract length may confer susceptibility to primary ovarian insufficiency (POI). BMP15 gene variants have also been related to POI.Objective and hypotheses: To evaluate the contribution of FOXE1 and BMP15 variants in the pathogenesis of POI and to investigate the hypothesis of digenic inheritance in this disorder.Method: FOXE1 and BMP...