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.