An XY female with Müllerian duct development and persistent Wolffian duct structures.
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.
Ilias
I
I
1st Department of Endocrinology, School of Medicine, University of Athens, Greece.
Kallipolitis
G K
GK
Sotiropoulou
M
M
Sofokleous
Ch
Ch
Loukari
E
E
Souvatzoglou
A
A
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*