Persistent Mullerian duct syndrome in a male child: A rare case report on the intersection of surgical importance and economic barriers in Syria.
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INTRODUCTION: During embryology, the Mullerian duct develops later into the female reproductive tract, and it is usually obliterates in males by anti-Mullerian hormone. Mutations in the gene for anti-Mullerian hormone or anti-Mullerian hormone receptor will cause persistent Mullerian duct syndrome. To the best of our knowledge, this is the first case of this syndrome documented in the medical literature from Syria. PRESENTATION OF CASE: Herein, we report a case of a 3-year-old male with external male genitalia, who presented complaining mainly of urinary tract infection symptoms. The ultrasound showed the presence of both Mullerian and Wolffian duct derivatives. In fact, and unfortunately, the main obstacles to complete further investigations in this case were a lack of cooperation from parents and the costs of these investigations. We hope that this case report will make interesting additions to the medical literature. DISCUSSION: PMDS syndrome is a rare condition characterized by male pseudohermaphroditism, where individuals have male external features but also possess female reproductive organs. Diagnosis often involves imaging techniques like ultrasound and MRI to visualize Mullerian structures. Laboratory tests, including hormone level assessments, are crucial for confirming the diagnosis. Surgical intervention is the primary treatment approach to prevent complications. CONCLUSION: The most common presentations for PMDS include inguinal hernia, testicular tumors, cryptorchidism, and abdominal tumors. So, when treating an inguinal hernia, especially if there is cryptorchidism, the possibility of PMDD should be considered. Early diagnosis and investigations play a major role in effective management and prevention the complications of this syndrome.