Gonadoblastoma-Associated Mixed Gonadal Germ Cell Tumor with Dysgerminoma and Hepatoid Yolk Sac Tumor Components in 46XY Gonadal Dysgenesis |
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| Affiliation: | 1. Department of Anatomic Pathology, University of Campinas, Campinas, São Paulo, Brazil;2. Department of Obstetrics and Gynecology, University of Campinas, Campinas, São Paulo, Brazil |
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| Abstract: | BackgroundDisorders of sex development are congenital conditions with atypical chromosomal, gonadal, or anatomical sex development. Gonadal dysgenesis in patients containing a Y chromosome have a high risk of developing germ cell tumors with potential for malignant transformation.CaseWe present the case of a 17-year-old phenotypic female with primary amenorrhea and 46,XY complete gonadal dysgenesis. Pelvic ultrasound showed a solid cystic lesion in the right gonad. Pathology showed a gonadoblastoma-associated mixed gonadal germ cell tumor with dysgerminoma and hepatoid yolk sac tumor.Summary and ConclusionTo our knowledge, this mixed neoplasm association has not been previously reported and this case illustrates the challenges for the diagnosis of gonadal dysgenesis-associated tumors, emphasizing its recognition and prognostic implications. |
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| Keywords: | disorders of sex development 46,XY gonadal dysgenesis Gonadoblastoma Dysgerminoma Yolk sac tumor Primary amenorrhea |
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