Lessons learned from five patients of persistent Mullerian duct syndrome: A case series

INTRODUCTION: Persistent Mullerian duct syndrome (PMDS) is a genetic disorder characterized by the persistence of Mullerian structures of fallopian tubes, uterus, and upper two-thirds of the vagina in a normal XY male. It is a rare genetic disorder that has been reported less than two hundred times. More rarely it may be seen in association with transverse testicular ectopia (TTE). PRESENTATION OF CASES: Four patients presented with swelling in the inguinal region and undescended testes. Pre-op ultrasound was done on three of these patients and it showed a hernia with testes inside the hernial sac. Hernia surgery was planned for these patients. One patient presented with a complaint of bilateral cryptorchidism that prompted laparoscopic exploration. In all five patients, on surgical exploration, Mullerian derivatives i.e., fallopian tubes, uterus, and vagina were found in the abdomen. Hernia surgery was done and Mullerian structures were excised. For undescended testes, patients had orchiopexy or orchidectomy depending on their respective age group. DISCUSSION: PMDS is caused by failure of production of Mullerian inhibiting substance. Mullerian structures other than causing inguinal hernia are also at risk of malignant transformation, which is the most important significance of this condition. In light of the risk of malignant transformation, Mullerian structures must be excised. CONCLUSION: To prevent the risk of malignant transformation in PMDS, the Mullerian structures must be excised. If PMDS is associated with TTE, orchiopexy must be done for pediatric patients and orchidectomy for adult patients.