Swyer syndrome with malignant germ cell tumor: a case report

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