A case of mistaken identity. A rare presentation of gonadal dysgenesis

Aust Fam Physician. 2000 Oct;29(10):945-7.


Background: The incidence of gonadal dysgenesis (hermaphroditism) is recognised to be low. Rarer still is an initial late presentation in the general practice setting.

Objective: To present a case study of a 35 year old man diagnosed as a hermaphrodite after routine investigations in general practice for lower abdominal pain. He has normal male external genitalia, a fully formed uterus and vagina, with no identifiable gonads.

Discussion: This incidental finding in general practice is supported by a 46,X,i(Yp)/45,X karyotype and mosaicism for an isochromosome of the short arm of the Y. It is not unusual that with normal male genitalia, such patients are likely to survive undiagnosed or incorrectly diagnosed into adulthood.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abdominal Pain / etiology
  • Adult
  • Follow-Up Studies
  • Gender Identity
  • Gonadal Dysgenesis / complications
  • Gonadal Dysgenesis / diagnosis*
  • Gonadal Dysgenesis / therapy
  • Humans
  • Identity Crisis
  • Magnetic Resonance Imaging
  • Male