An XY female with Müllerian duct development and persistent Wolffian duct structures
2002
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 mullerian structures and testicular remnants alongside a steroid-producing gonadoblastoma.
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