Swyer syndrome with malignant germ cell tumor: a case report

Abstract Background Swyer syndrome (Pure gonadal dysgenesis, 46 XY) is a rare form of disorder sexual development. These patients presented with external female phenotype, normal Mullerian structures and streak gonads. Pure XY are more likely to develop germ cell tumors due the presence Y chromosome. Case presentation A 19-year-old patient phenotype primary amenorrhea. Clinical examination, Karyotyping, imaging, histopathological assessment revealed syndrome. On right adnexal mass calcification was detected. Laparoscopic surgery histopathology malignant tumor. Conclusions represents development that necessitates meticulous clinical, laboratory radiological evaluation. Clinically, have 46xy Karyotyping. Imaging, Ultrasound imaging modality Imaging MRI helps in detection exact site gonads characterization lesions. CT useful detecting calcification, which hallmark diagnosis gonadoblastoma. Early crucial as prophylactic gonadectomy these cases reduces risk developing tumors.