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A case report on ovotesticular disorder of sexual development 46, XY with malignant mixed germ cell tumor (Yolk sac tumor, dysgerminoma, mature cystic teratoma)

Tessa Mae J. Bonguyan, MD; Darleen SJ. Estuart, MD, FPOGS
Department of Obstetrics and Gynecology, Brokenshire Memorial Hospital

This paper reports a case of a 19 year-old born with ambiguous genitalia, who presented with abdominopelvic mass diagnosed to have Ovotesticular Disorder of Sexual Development (OT-DSD) 46, XY with Malignant Mixed Germ Cell Tumor (Yolk Sac Tumor, Dysgerminoma, Mature Cystic Teratoma,). She underwent two surgeries and had gone through six cycles of Vincristine, Dactinomycin and Cyclophosphamide chemotherapy.

OT-DSD is a rare condition by the presence of both histologically proven testis and ovary in the same individual. The report describes the clinical, biochemical, imaging, and histopathologic findings and outcomes of OT-DSD complicated with gonadal tumor. Diagnostic work up, pre-operative preparations, intra operative management, post-operative follow up and chemotherapy along with psychiatric support for gender identity and assignment are discussed. This paper emphasizes the importance of multidisciplinary effort from the different fields of medicine namely reproductive endocrinology, gynecologic oncology, surgery, psychiatry, and anesthesiology.

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