Persistent Müllerian duct syndrome: lessons learned from managing a series of eight patients over a 10‐year period and review of literature regarding malignant risk from the Müllerian remnants

Abstract

Study Type – Therapy (case series)Level of Evidence 4What's known on the subject? and What does the study add?Approximately 200 cases of persistent Müllerian duct syndrome have been reported over the last 50 years and most authors suggest leaving the Müllerian remnant in situ because of the difficulty in dissection and the presumed absence of risk of malignancy. However, with increasing reports of Müllerian malignancies emerging, we report our 10‐year experience of managing patients with persistent Müllerian duct syndrome, with removal of müllerian remnants.This case series shows that there is an increased risk of Müllerian malignancy that was previously unknown. With the laparoscopic approach, orchidopexy with simultaneous removal of Müllerian remnants could be accomplished with minimal surgical trauma and the benefit of no malignancy risk in the future. This is a new technique that has not been previously performed. Considering the current evidence of malignancy in the Müllerian remnant, surgeons would need to discuss with families about removal of remnants or long‐term monitoring.OBJECTIVES To describe the presentation and management of eight patients with persistent Müllerian duct syndrome (PMDS) seen over a 10‐year period at our tertiary centre. To review the literature of Müllerian malignancies reported in PMDS. PATIENTS AND METHODS The hospital records of eight patients with PMDS were retrospectively reviewed between 2001 and 2011. Extensive PubMed searches for PMDS and Müllerian malignancy were performed. RESULTS Eleven cases with PMDS and malignancy of the Müllerian remnants were identified. From our own PMDS series: five males presented with bilateral undescended testes and three had unilateral undescended testis. We found that the Müllerian remnants could be removed by laparoscopy and three patients had simultaneous laparoscopic removal of the Müllerian structures and laparoscopic orchidopexy. CONCLUSIONS The principle aim of orchidopexy with simultaneous laparoscopic removal of the Müllerian structures can be accomplished with minimal surgical trauma and the benefit of no malignancy risk in the future. Surgeons should consider excision of the Müllerian remnants where possible.

Canadian Urological Association-Pediatric Urologists of Canada (CUA-PUC) guideline for the diagnosis, management, and followup of cryptorchidism

“…Removal can be achieved through open surgery or laparoscopically with care being taken not to damage the vas deferens, which can be quite adherent to the Mullerian structures. 24,25 When Mullerian remnants are found incidentally during an inguinal orchidopexy, the proximal aspect of the fallopian tube can be transected and removed with the uterus, leaving its distal component attached to the vas deferens, allowing the testis to be brought to a scrotal position (Level 4 evidence, Grade D recommendation). Such maneuver avoids separation of the tube from the cord structures, protecting the deferential and testicular blood supply.…”

Indirect inguinal hernia with uterine tissue in a male: A case of persistent Mullerian duct syndrome and literature review

“…9 Interestingly, laparoscopic management of PMDS has now also been successfully reported. 27,28 See Table 1 for our key points.…”

Mixed gonadal dysgenesis associated with persistent Müllerian duct syndrome – a rare anomaly

“…PMDS is an autosomal recessive disorder, and AMH mutations occur with the increasing rate in consanguineous marriage. 3 Children born with intersex disorders comprise approximately 1.7% of all live birth. 7 Ovotesticular disorder of sexual differentiation or true hermaphroditism is a rare intersex disorder characterized by the presence of both ovarian tissue and testicular element regardless of their …”

“…Defects with AMH or the receptors result in PMDS. 3,5 A normal sex differentiation is controlled by testosterone, dihydrotestosterone, and MIF. Sertoli cells secrete MIF that leads to the regression of Müllerian ducts.…”

“…2 The study by Farikullah et al suggests that approximately 200 cases of PMDS have been reported in the last 50 years. 3 PMDS is caused either by an insufficient amount of Müllerian inhibiting factor (MIF) or due to insensitivity of the target organs to MIF. MGD refers to individuals who usually have a differentiated gonad on one side and a streak gonad or a streak testis on the other side.…”