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Persistent müllerian duct syndrome: a case report

M I Carvajal Busslinger1, B Kuhlmann, G Kaiser

  • 1Chirurgische Kinderklinik, Inselspital Bern, Switzerland.

European Journal of Pediatrics
|January 1, 1993
PubMed
Summary

Persistent Müllerian duct syndrome, a rare sexual development disorder, was observed in a male infant presenting with an inguinal hernia and undescended testes. Internal female reproductive organs were found during surgery, confirming the diagnosis.

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Area of Science:

  • Reproductive Medicine
  • Pediatric Surgery
  • Genetics

Background:

  • Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development characterized by the presence of Müllerian duct remnants in 46,XY individuals.
  • It typically presents with symptoms related to cryptorchidism and/or inguinal hernias, often containing female internal reproductive organs.

Observation:

  • A 4-month-old male infant presented with a left-sided inguinal hernia and undescended testes.
  • During surgical repair, a uterus, fallopian tube, and testes were observed, leading to a clinical suspicion of hernia uteri syndrome.

Findings:

  • Laboratory investigations confirmed the diagnosis of persistent Müllerian duct syndrome.
  • At 18 months, a laparotomy was performed, and the fused gonads were surgically descended into the right scrotum.

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Implications:

  • This case highlights the importance of considering PMDS in male infants with inguinal hernias and undescended testes.
  • Early diagnosis and surgical management are crucial for preventing complications and optimizing reproductive outcomes in patients with PMDS.