Bilateral seminomas in a 45X/46XY mosaic with Turner's phenotype: an unusual case of mixed gonadal dysgenesis.
A wide spectrum of phenotypic manifestations are seen in cases with 45X/46XY mosaicism. We present a case with 45X/46XY having female phenotype with Turner's stigmata. Prophylactic laparoscopic gonadectomy was performed and the patient was found to have mixed gonadal dysgenesis with bilateral gonadoblastomas. Microinvasive seminomas were also detected in both gonadoblastomas. The presence of Y cell line in karyotype prompted early and prophylactic gonadectomy, a procedure which is life-saving for these individuals.
Kriplani
Alka
A
Department of Obstetrics and Gynecology, All India Institute of Medical Sciences, New Delhi, India. kriplani@medinst.ernet.in
Agarwal
Nutan
N
Parul
Sharma
Meharchand C
MC
Manchanda
Ranjit
R
D000293:Adolescent; D005260:Female; D006060:Gonadal Dysgenesis, Mixed / Q000150:complications*; D018238:Gonadoblastoma / Q000150:complications / Q000473:pathology / Q000601:surgery*; D006066:Gonads / Q000473:pathology / Q000601:surgery; D006801:Humans; D008297:Male; D009378:Neoplasms, Multiple Primary / Q000473:pathology / Q000601:surgery*; D010051:Ovarian Neoplasms / Q000473:pathology / Q000601:surgery*; D010641:Phenotype; D018239:Seminoma / Q000150:complications / Q000473:pathology / Q000601:surgery*; D013736:Testicular Neoplasms / Q000473:pathology / Q000601:surgery*; D014424:Turner Syndrome / Q000150:complications*