Incidentally Discovered Persistent Müllerian Duct Syndrome in a 45-year-old male presenting with germ cell tumor and bilateral cryptorchidism: A rare case report and review of the literature

Introduction: Persistent Müllerian Duct Syndrome (PMDS) is a rare sexual disease. It is characterized by the presence of female reproductive structures such as uterus, cervix, fallopian tubes and upper part of vagina in a normal genotypically and phenotypically male. The diagnosis is usually incidental since the patients will present with normal external genitalia and secondary sexual characteristics. Imaging techniques such as magnetic resonance imaging (MRI), computed tomography (CT) scan, or ultrasound (US) could help in the diagnosis. Case presentation: A 45-year-old male presented with bilateral undescended testes since birth and 2 months history abdominal mass. CT scan showed a 13 × 17 × 20 cm solid pelvi-abdominal mass. The diagnosis of mixed germ cell tumor of the undescended testes was made based on the CT scan. During resection of the tumor, patient was found to have a uterus, fallopian tubes and ovaries. Discussion: Pathological investigation showed endometrial tissues with portion of lower uterine segment and cervix with remnant of testes with marked atrophy. No Ovarian tissues were found nor fallopian tube as well. The diagnosis of PMDS was made based on the pathological report. Conclusion: PMDS is a challenging condition to diagnose. Radiological investigation can miss the presence of the Müllerian duct structures as in our case because of the unusual presentation of this condition. Early diagnosis and management is important as the malignant transformation is high due to the undescended testes. Keywords: Persistent Müllerian Duct Syndrome, Germ cell tumor, Bilateral cryptorchidism, Case repor