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Lessons learned from five patients of persistent Mullerian duct syndrome: A case series
Shehryar Ahmed Khan Niazi1, Muhammad Umer Mukhtar2, Rameez Hassan1
1Laparoscopic Surgeon and Surgical Oncologist, District Headquarter Hospital, Bhakkar, Pakistan.
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.
Insights
Persistent Mullerian duct syndrome (PMDS) involves retaining female reproductive structures in XY males. Surgical excision of these Mullerian structures is crucial to prevent malignant transformation and manage associated conditions like transverse testicular ectopia.
Area of Science:
- Genetics
- Pediatric Surgery
- Endocrinology
Background:
- Persistent Mullerian duct syndrome (PMDS) is a rare genetic disorder in XY males, characterized by the presence of uterus, fallopian tubes, and vagina.
- This condition is infrequently associated with transverse testicular ectopia (TTE).
Purpose of the Study:
- To report on the clinical presentation and management of five patients with Persistent Mullerian duct syndrome.
- To emphasize the importance of surgical intervention for PMDS to mitigate risks of malignancy and manage associated testicular abnormalities.
Main Methods:
- Case series involving five patients presenting with inguinal swelling, undescended testes, or bilateral cryptorchidism.
- Pre-operative ultrasound and surgical exploration were performed.
- Management included hernia repair, excision of Mullerian structures, and orchiopexy or orchidectomy for undescended testes.
Main Results:
- Surgical exploration confirmed Mullerian derivatives (uterus, fallopian tubes, vagina) in all five patients.
- Hernia repair and excision of Mullerian structures were successfully performed.
- Treatment for undescended testes varied based on age: orchiopexy for pediatric patients and orchidectomy for adult patients.
Conclusions:
- Persistent Mullerian duct syndrome necessitates surgical excision of Mullerian structures due to their potential for malignant transformation.
- Management of associated transverse testicular ectopia requires age-specific surgical approaches, including orchiopexy in children and orchidectomy in adults.
