Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome

A 16-year-old girl was referred to our center by her general physician because of primary amenorrhea. Her family history revealed an older sister with Swyer syndrome and gonadectomy at another institution. After thorough evaluation she received the same diagnosis, but unlike her sister, she refused gonadectomy. Four years later she presented with abdominal discomfort and a complex pelvic mass. She underwent exploratory laparotomy and histological examination revealed bilateral dysgerminoma without capsular invasion. The tumor was classified as stage IB. After surgery she underwent adjuvant chemotherapy with three cycles of BEP (bleomycin + etoposide + cisplatin). The present case emphasizes the importance of familial screening with a karyotype study in pure gonadal dysgenesis to prevent gonadal malignancy.