hrp0086rfc7.4 | Gonads & DSD | ESPE2016

A Mutation in WT1 (Wilms’ Tumor Suppressor 1) Associated with 46,XX TDSD

Eozenou Caroline , Fusee Leila , Mazen Ines , Bignon-Topalovic Joelle , McElreavey Ken , Bashamboo Anu

Background: 46,XX DSD (Disorder of Sex Development) includes individuals with ovotestes (ovotesticular DSD (OTDSD)) or testes (testicular DSD (TDSD)). Most individuals with 46,XX TDSD carry the SRY gene. Other known causes of TDSD/OTDSD include chromosomal rearrangements involving SOX9 or SOX3 and mutations of WNT4 and a WNT regulator, R-SPONDIN 1. However, our understanding of the molecular causes of TDSD and OTDSD remain incomplete.<p ...