Persistent mullerian duct syndrome: A 24-year experience

Area of Science:

• Pediatric Surgery
• Endocrinology
• Genetics

Background:

• Persistent Mullerian Duct Syndrome (PMDS) is a rare congenital disorder in males.
• It involves the presence of Mullerian duct remnants, typically found in females.
• This condition can present diagnostic and management challenges.

Purpose of the Study:

• To analyze the clinical presentation, diagnostic methods, and treatment outcomes of PMDS.
• To identify common presenting features and familial patterns in PMDS patients.
• To evaluate surgical management strategies for PMDS.

Main Methods:

• Retrospective analysis of medical records from 27 male patients with PMDS.
• Data collected over 24 years from three teaching hospitals.
• Included demography, clinical presentation, investigations, and surgical treatments.

Main Results:

• Twenty-seven male children diagnosed with PMDS, aged 3 months to 19 years.
• Common presentations included bilateral undescended testes (UDT), unilateral inguinal hernia, or both.
• Familial trends were observed in approximately 30% of cases; diagnosis was often incidental during surgery for UDT or hernias.

Conclusions:

• Key presenting features of PMDS are isolated UDT, left UDT with right inguinal hernia, or bilateral UDT with unilateral inguinal hernia.
• A significant familial tendency exists in PMDS cases.
• Management can be single-stage, but a two-stage approach may be preferred if gonadal or genotypic uncertainty exists.