Bilateral gonadoblastomas with a left sided dysgerminoma in a true hermaphrodite (disorder of sexual differentiation) with 46, XY karyotype.
Ovotesticular DSD is not an uncommon disorder. The presence of Y chromosome confers a high risk of neoplastic transformation in dysgenetic gonads. The neoplastic development in these patients is associated with the presence of Y chromosome and intra abdominal location of the abnormal gonad. We report histogenetic details of a rare occurrence of bilateral gonadoblastomas and left sided dysgerminoma in a XY ovotestes DSD (disorder of sexual differentiation) in an 18 year old with a female phenotype.
Kini
Usha
U
Department of Pathology, St. John's Medical College and Hospital, Bangalore, India.
Bantwal
G
G
Ayyar
V
V
Idiculla
Jyothi
J
D000293:Adolescent; D004407:Dysgerminoma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis*; D018238:Gonadoblastoma / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D006801:Humans; D007621:Karyotyping; D050090:Ovotesticular Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics