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Persistent müllerian duct syndrome--a case report.

C H Yip1, K W Chang

  • 1Department of Surgery, University Hospital, Kuala Lumpur, Malaysia.

Singapore Medical Journal
|October 1, 1991
PubMed
Summary

This case report details a rare persistent Mullerian duct syndrome in a male infant. Surgical intervention involved bilateral orchidopexy and excision of Mullerian duct remnants.

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Area of Science:

  • Pediatric Surgery
  • Endocrinology
  • Genetics

Background:

  • Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sex development in 46,XY individuals.
  • It is characterized by the presence of Mullerian duct derivatives (uterus, fallopian tubes, vagina) in a phenotypic male due to a defect in Mullerian inhibiting substance (MIS).

Observation:

  • An 18-month-old phenotypically and genotypically normal male infant presented with left inguinal hernia and right undescended testis.
  • Intraoperatively, a uterus, bilateral fallopian tubes, and a vagina were identified within the left hernial sac.

Findings:

  • Bilateral orchidopexies and excision of the persistent Mullerian duct structures were successfully performed.
  • This surgical approach highlights the challenges of preserving the vas deferens due to its adherence to the uterus.

Implications:

  • This case underscores the importance of early diagnosis and surgical management of PMDS.
  • It also discusses the surgical considerations and potential alternatives when complete excision of Mullerian remnants is technically difficult.

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