hrp0092fc10.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

The Fruit Fly, Drosophila Melanogaster, as a Model to Elucidate Human Differences of Sex Development (DSD)

Mercadé Ivan Domènech , Sotillos Sol , Gutiérrez Daniel Rodríguez , Nef Serge , Hombría James C-G , Biason-Lauber Anna

Background: An activation cascade of specific genes sets up the initiation of sex determination leading in males to testes formation and synthesis of testicular hormones. Disruption of this gene cascade may cause a spectrum of disorders/differences of sex development (DSD) phenotypes. Here we describe for the first time two sisters suffering from 46,XY DSD, who by whole exome sequencing were shown to carry a mutation in the X-linked StAR-related lipid transfer...