Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome.
OBJECTIVE
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.
Joki-Erkkilä
Minna M
MM
Department of Obstetrics and Gynecology, University Hospital of Tampere, Tampere, Finland. minna.joki-erkkila@uta.fi
Karikoski
Riitta
R
Rantala
Immo
I
Lenko
Hanna-Liisa
HL
Visakorpi
Tapio
T
Heinonen
Pentti K
PK
D000293:Adolescent; D030321:Denys-Drash Syndrome / Q000175:diagnosis* / Q000378:metabolism / Q000601:surgery; D004407:Dysgerminoma / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism / Q000601:surgery; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000175:diagnosis*; D018238:Gonadoblastoma / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism / Q000601:surgery; D006066:Gonads / Q000002:abnormalities / Q000737:chemistry / Q000601:surgery; D013509:Gynecologic Surgical Procedures; D006801:Humans; D007150:Immunohistochemistry; D007265:Inhibins / Q000032:analysis; D007676:Kidney Failure, Chronic / Q000150:complications*; D010535:Laparoscopy; D010051:Ovarian Neoplasms / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism / Q000601:surgery; D011944:Receptors, Androgen / Q000235:genetics; D016896:Treatment Outcome
D011944:Receptors, Androgen; D007265:Inhibins