title: An XY female with Müllerian duct development and persistent Wolffian duct structures.
abstract: Disorders of sexual differentiation are usually diagnosed at an early age. We hereby describe a case of a 29-year-old phenotypic woman who during the evaluation of amenorrhea was found to have a 46, XY karyotype. Further evaluation (including laparoscopy) suggested that she presented a variant of gonadal dysgenesis, with the particularity of having well-developed müllerian structures and testicular remnants alongside a steroid-producing gonadoblastoma.
authors.affiliation: 1st Department of Endocrinology, School of Medicine, University of Athens, Greece.
authors.forename: I
authors.initials: I
authors.lastname: Ilias
authors.forename: G K
authors.initials: GK
authors.lastname: Kallipolitis
authors.forename: M
authors.initials: M
authors.lastname: Sotiropoulou
authors.forename: Ch
authors.initials: Ch
authors.lastname: Sofokleous
authors.forename: E
authors.initials: E
authors.lastname: Loukari
authors.forename: A
authors.initials: A
authors.lastname: Souvatzoglou
mesh_terms: D000328:Adult; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology; D018238:Gonadoblastoma / Q000503:physiopathology; D006801:Humans; D008297:Male; D009095:Mullerian Ducts / Q000473:pathology*; D013736:Testicular Neoplasms / Q000503:physiopathology; D014928:Wolffian Ducts / Q000473:pathology*