Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report.
Patients with 46,XY complete gonadal dysgenesis (Swyer syndrome) are characterized by the presence of female internal genital tract and bilateral streak gonads in a phenotypic female. These women have a high risk of developing rare type II malignant germ cell tumors. We report a rare case of a 33-year-old 46,XY female patient, who presented with an adnexal mass suspected for dysgerminoma, with a novel mutation of the sex-determining region on the Y chromosome consisting in the variant c.301C> G (p.L101V). Considering that effective screening is not available and the high risk of developing malignant neoplasm, prophylactic gonadectomy is mandatory.
Department of Obstetrics and Gynaecology, S. Filippo Neri Hospital Department of Obstetrics and Gynaecology, University of Rome 'Campus Bio-Medico', Rome, Italy.
Francesco
F
Battaglia
Francesco
F
Plotti
Michela
M
Angelucci
Alessia
A
Aloisi
Roberto
R
Angioli
D000328:Adult; D004407:Dysgerminoma / Q000150:complications / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000150:complications / Q000235:genetics*; D051876:Sex-Determining Region Y Protein / Q000235:genetics*
D051876:Sex-Determining Region Y Protein