hrp0084p3-795 | DSD | ESPE2015

Polymorphisms and Mutations of the Genes INSL3 and HOXD13 in the Pathogenesis of Isolated Cryptorchidism in Greece

Vappa Sofia , Sofocleous Christalena , Nikas Konstantinos , Mastorakos Georgios , Kanavakis Emmanouel , Kanaka-Gantenbein Christina

Background: Current literature suggests an important role of both endocrine disruptors and genetic factors in the occurrence of cryptorchidism.Objective and hypotheses: The aim of the study is to investigate the impact of variants in INSL3 and HOXD13 genes in the pathogenesis of isolated cryptorchidism in Greece. 43 boys with isolated cryptorchidism and 50 healthy non-cryptorchidic boys (control group) were enrolled.<p class="abstex...

hrp0084p1-134 | Turner &amp; 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...