An insight into the landscape of a rare tumor-persistent Mullerian duct syndrome with testicular seminoma

Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in phenotypically males with 46 XY karyotype. The syndrome is caused by insufficient amount of Mullerian-inhibiting substance (MIS) or due to insensitivity of the target organ to MIS. Till date, less than 300 cases of PMDS are described in English literature, and the association of testicular tumor is still rarer. We report a case of seminoma of testis with PMDS in a 22-year male who reported with intermittent pain, fullness, and dragging sensation over right-side lower abdomen for 4 years. The radiological impression was testicular mass arising from undescended testis with persistent Mullerian duct structures. Histopathology and immunohistochemistry confirmed the diagnosis. Association of undescended testis increases the likelihood of developing testicular tumor in PMDS. Clinicians and pathologists should be aware of the rare entity while dealing with the cryptorchidism with inguinal hernia, and necessary management should be done to reduce the complications.