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


CONCLUSIONS
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.
Lim
A C
AC
Telemedicine, Department of Dermatology, St George Hospital, New South Wales.
Stiel
J N
JN
Blome
S A
SA
Yip
M Y
MY
D015746:Abdominal Pain / Q000209:etiology; D000328:Adult; D005500:Follow-Up Studies; D005783:Gender Identity; D006059:Gonadal Dysgenesis / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D007063:Identity Crisis; D008279:Magnetic Resonance Imaging; D008297:Male