Case report reveals dysgerminoma in a male patient with ambiguous genitalia, indicating need for careful assessment of gonadal tumors.
<ns3:p>Introduction Dysgerminoma is a malignant germ cell tumor in young women, often detected early with favorable prognosis and distinct immunological features influencing its treatment. This case highlights an unusual presentation of ovarian dysgerminoma in a phenotypic male with ambiguous genitalia. Case presentation We report a case of a phenotypically male patient in his 20s presenting with progressive abdominal distention and ambiguous genitalia. Clinical evaluation, imaging studies, and histopathological examination were performed. Physical examination revealed a mobile, non-tender mass, with ascites and ambiguous genitalia. Imaging revealed a large heterogeneous abdominal mass with para-aortic lymphadenopathy and internal female reproductive organs. Surgical resection was performed, and histopathological and immunohistochemical findings (OCT3/4 and CD117 positivity) confirmed dysgerminoma. The patient was treated with platinum-based chemotherapy and showed favorable clinical improvement. Conclusion This case highlights the importance of considering gonadal malignancies in patients with DSD and emphasizes the role of multidisciplinary and patient-centered management, particularly in resource-limited settings.</ns3:p>
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Kamal et al. (2026) studied this question.
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