Gonadoblastoma in androgen insensitivity syndrome: A case report

Francesco Raspaglies, Antonino Ditto, Luigi Cobellis, Pasquale Quattrone, Rosanna Fontanelli, Shigeki Kusamura, Eugenio Solima

Research output: Contribution to journalArticlepeer-review


We report a case of androgen insensitivity syndrome (AIS) characterized by malignant degeneration of the testes consisting of gonadoblastoma and dysgerminoma. AIS is a rare inherited form of male pseudohermaphroditism that can manifest as a normal female phenotype without müllerian derivatives and absence of the upper third of the vagina. A 32-year-old white 46,XY female with AIS underwent removal of the dysgenetic gonads at the Gynecological Oncology Department of the Istituto Nazionale Tumori, Milan, Italy. We investigated cytogenetic alterations, hormonal levels and the presence of neoplasia in the dysgenetic gonads. Histological analysis revealed a gonadoblastoma mixed with dysgerminoma in the left gonad and a pure dysgerminoma in the right gonad. The patient's hormonal status matched that of a male. Second-look laparotomy after chemotherapy showed a complete pathological response. AIS should be suspected in phenotypically female patients with primary amenorrhea; surgical removal of the gonads is mandatory to avoid malignant degeneration.

Original languageEnglish
Pages (from-to)196-198
Number of pages3
Issue number2
Publication statusPublished - Mar 2003


  • Androgen insensitivity syndrome
  • Cytogenetic analysis
  • Gonadoblastoma
  • Treatment

ASJC Scopus subject areas

  • Cancer Research


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