hrp0086p2-p423 | Gonads & DSD P2 | ESPE2016

Sisters with 46XY Gonadal Dysgenesis and Gonadoblastoma

Petychaki Foteini , Vlachopapadopoulou Elpis , Dikaiakou Eirini , Mpaka Margarita , Kitsiou-Tzeli Sofia , Mavrou Ariadni , Michalakos Stefanos

Background: 46XY DSD with female phenotype is classified as complete gonadal dysgenesis (46XY CGD) if a uterus is present or a disorder of androgen synthesis or action if a uterus is absent. The genetic causes of 46XY CGD are not fully clarified. Less than 15% of the cases were found to carry mutations of the sex determining region Y gene (SRY).Purpose: The description of the rare case of two sisters affected of 46XY CPD and gonadoblastoma with SRY mutat...