Pure non-gestational ovarian choriocarcinoma in a 45,XO/46,XX SRY-negative true hermaphrodite |
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Authors: | Hu Ting Yang Mei Zhu Hongmei Shi Gang Wang He |
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Institution: | Department of Gynecology and Obstetrics, West China Second University Hospital, Sichuan University, Sichuan, China. |
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Abstract: | Non-gestational ovarian choriocarcinoma (NGCO) is an extremely rare malignant tumor with a poor prognosis and is difficult to distinguish from gestational choriocarcinoma. True hermaphrodite (TH) is genetically a heterogenous condition causing ovarian and testicular tissue development in the same individual. We report here the first case of pure NGCO in the right ovotestis of a 23-year-old 45,XO/46X,X sex-determining region Y chromosome (SRY)-negative TH. The diagnosis of non-gestational origin was confirmed by testing five short tandem repeats (STR). The patient responded well to radical surgery with bleomycin, etoposide, cisplatin (BEP) regimen. We also hypothesize that some mutations of an X-linked or autosomal gene lead to testicular determination in SRY-negative TH patients. |
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