Gonadoblastoma and Dysgerminoma Associated With XY Gonadal Dysgenesis in an Adolescent With Chronic Renal Failure: A Case of Frasier Syndrome

J Pediatr Adolesc Gynecol. 2002 Jun;15(3):145-9. doi: 10.1016/s1083-3188(02)00147-x.

Abstract

Study objectives: To report a rare reason for primary amenorrhea, a Frasier syndrome, XY gonadal dysgenesis associated with renal failure with eventual development of gonadoblastoma. To study immunohistochemical analysis of gonadoblastoma and dysgerminoma. To analyze the possibility of androgen receptor mutation in this rare syndrome.

Methods: We report a case of a 16-yr-old female with this syndrome. She underwent a laparoscopic bilateral gonadectomy and salpingectomy. A histopathological examination revealed gonadoblastoma with focal malignant dysgerminoma in the left dysgenetic gonad and an immunohistochemical of these fairly rare, malignant tumors. An androgen receptor was coded. Analysis was done.

Results: Immunohistochemical analysis showed that inhibin was strongly positive in gonadoblastoma but negative in dysgerminoma. No mutations of the androgen receptor gene were found.

Conclusions: Inhibin positivity in gonadal stroma and in gonadoblastoma may indicate hormonal activity causing advanced puberty in patients with XY gonadal dysgenesis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Denys-Drash Syndrome / diagnosis*
  • Denys-Drash Syndrome / metabolism
  • Denys-Drash Syndrome / surgery
  • Dysgerminoma / complications*
  • Dysgerminoma / diagnosis*
  • Dysgerminoma / metabolism
  • Dysgerminoma / surgery
  • Female
  • Gonadal Dysgenesis, 46,XY / complications
  • Gonadal Dysgenesis, 46,XY / diagnosis*
  • Gonadoblastoma / complications*
  • Gonadoblastoma / diagnosis*
  • Gonadoblastoma / metabolism
  • Gonadoblastoma / surgery
  • Gonads / abnormalities
  • Gonads / chemistry
  • Gonads / surgery
  • Gynecologic Surgical Procedures
  • Humans
  • Immunohistochemistry
  • Inhibins / analysis
  • Kidney Failure, Chronic / complications*
  • Laparoscopy
  • Ovarian Neoplasms / complications*
  • Ovarian Neoplasms / diagnosis*
  • Ovarian Neoplasms / metabolism
  • Ovarian Neoplasms / surgery
  • Receptors, Androgen / genetics
  • Treatment Outcome

Substances

  • Receptors, Androgen
  • Inhibins