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J Obstet Gynaecol Res. 2013 Jan;39(1):442-5. doi: 10.1111/j.1447-0756.2012.01956.x. Epub 2012 Aug 13.

Novel mutation of the sex-determining region on the Y chromosome in a 46,XY female patient with monolateral dysgerminoma: a case report.

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  • 1Department of Obstetrics and Gynaecology, S. Filippo Neri Hospital Department of Obstetrics and Gynaecology, University of Rome 'Campus Bio-Medico', Rome, Italy.


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.

© 2012 The Authors. Journal of Obstetrics and Gynaecology Research © 2012 Japan Society of Obstetrics and Gynecology.

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