Introduction/Background Persistent Mullerian Duct Syndrome (PMDS) is a rare genetic disorder that affects male sexual development by causing the persistence of Mullerian duct structures in males. This leads to the presence of female reproductive organs such as the uterus, fallopian tubes, and upper vagina in male individuals along with their normal male reproductive organs. PMDS can lead to various complications, and affected individuals are at high risk for testicular neoplasm.
Methodology We report a medical case of a 30-year-old man with PMDS treated in Salah Azaiz Institute of Oncology.
Results A 30-year-old man with PMDS presented with a pelvic mass and unilateral cryptorchidism. Imaging studies revealed an abdominopelvic mass measuring 30x20x15 cm with peritoneal carcinomatosis, involvement of the right pleura, and liver nodules. A biopsy confirmed the diagnosis of seminoma.
Tumor marker tests revealed a high level of LDH at 10 times the normal range, while alpha-fetoprotein and human chorionic gonadotropin were normal.
The patient underwent BEP chemotherapy resulting in more than 50% decrease in tumor volume and regression of metastases. Laparotomy revealed a uterus and fallopian tubes, small left testis, and large right testis mass.
Histopathology of the abdominal mass revealed a pure testicular seminoma measuring 16 cm (stage pT2) and metastatic nodules in the perivesical and inguinal canal. The patient is undergoing maintenance chemotherapy with 3 cycles of Etoposide-Platine.
Conclusion Our case report emphasizes the significance of PMDS as a potential risk factor for testicular neoplasm. It also highlights the success of chemotherapy and orchidectomy in treating intra-abdominal seminoma in patients with PMDS. Physicians should consider PMDS in the differential diagnosis of male patients with pelvic masses and testicular neoplasm.
Disclosures There are no financial conflicts of interest to disclose.
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