hrp0082p1-d3-97 | Sex Development | ESPE2014

46, XX Ovotesticular Disorder of Sex Development: Potential Role of 13q31.1

Girardin Celine M , Dirlewanger Mirjam , Bena Frederique , Nef Serge , Rougemont Anne-Laure , Birraux Jacques , Schwitzgebel Valerie M

Background: The origins of 46,XX ovotesticular DSD remains unclear in the majority of the cases. New genetic tools can help identifying genes and loci involved in gonadal development and differentiation.Objective and hypotheses: We report the results of the genetic investigations performed in a 15 years old African adolescent with SRY-negative 46,XX ovotesticular DSD.Method: Clinical evaluation, imaging studies, surgical exploratio...