hrp0084p3-788 | DSD | ESPE2015
Rojo Jaime Cruz
, Lorenzo Lucia Garzon
, Fernandez Jone Agirregoitia
, del Pozo Cristina Martinez
, Picard Jean-Yves
, del Pozo Jaime Sanchez
Background: The persistent Müllerian duct syndrome (PMDS) is a rare 46-XY disorder of sex development, characterized by the persistence of Müllerian derivatives (uterus, Fallopian tubes) in otherwise normally virilised males. The condition is transmitted as a recessive autosomal trait and is caused in most cases by a defect in either the anti-Müllerian hormone (AMH) or the AMH type-II receptor (AMHR-II) genes.Case report: We present a 9 ye...