An XY female with Müllerian duct development and persistent Wolffian duct structures

Clin Exp Obstet Gynecol. 2002;29(2):103-4.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Gonadal Dysgenesis, 46,XY / diagnosis*
  • Gonadal Dysgenesis, 46,XY / pathology
  • Gonadal Dysgenesis, 46,XY / physiopathology
  • Gonadoblastoma / physiopathology
  • Humans
  • Male
  • Mullerian Ducts / pathology*
  • Testicular Neoplasms / physiopathology
  • Wolffian Ducts / pathology*