hrp0084p1-66 | DSD | ESPE2015

46, XX Ovotesticular DSD in the Absence of SRY Gene Associated to SOX3 Duplication

Grinspon Romina P , Nevado Julian , Alvarez Maria de los Angeles Mori , Rey Rodolfo A , del Rey Graciela , Chiesa Ana

Background: Ovotesticular DSD is a rare disorder defined by the presence of both ovarian and testicular tissues in the same individual. SRY is present in approximately 1/3 of patients with 46, XX ovotesticular DSD. In SRY-negative ovotesticular DSD, the mechanism responsible for the presence of testicular tissue is not yet understood.Case presentation: A male patient was referred to us for hypospadias and bilateral cryptorchidism at 2.5...