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Updated: Oct 5, 2025

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Persistent Mullerian Duct Syndrome.

Uzma Javed Gul1, Syed Aizaz Hussain Zaidi1, Naila Medhat1

  • 1Department of General Surgery, Combined Military Hospital, Rawalpindi, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC
|January 25, 2022
PubMed
Summary

Persistent Mullerian Duct Syndrome (PMDS) is a rare condition where an individual with 46 XY karyotype retains female internal reproductive organs. This case highlights a 32-year-old male diagnosed with a germ cell tumor and PMDS.

Keywords:
Persistent Mullerian Duct SyndromeSeminoma; Chemotherapy; Karyotype

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Area of Science:

  • Endocrinology
  • Genetics
  • Reproductive Medicine

Background:

  • Persistent Mullerian Duct Syndrome (PMDS) is an exceedingly rare disorder of sex development.
  • It is characterized by the presence of Müllerian duct remnants (uterus, fallopian tubes, and vagina) in a phenotypic male with a 46,XY karyotype.
  • This condition arises from mutations in genes responsible for Müllerian duct regression, typically AMH or its receptor (AMHR2).

Observation:

  • A 32-year-old male presented with an abdominal mass and a history of orchidectomy.
  • Initial diagnosis was seminoma, followed by chemotherapy.
  • Abdominal mass biopsy confirmed a germ cell tumor; MRI revealed rudimentary female internal organs.

Findings:

  • Histopathology and intraoperative findings confirmed the presence of Müllerian duct remnants in a 46,XY individual.
  • The patient's karyotype was determined to be 46,XY.
  • Co-occurrence of germ cell tumor and Persistent Mullerian Duct Syndrome was noted.

Implications:

  • This case underscores the importance of considering rare genetic conditions in the differential diagnosis of abdominal masses in males.
  • Early recognition and diagnosis of PMDS are crucial for appropriate management and genetic counseling.
  • Further research into the interplay between germ cell tumors and disorders of sex development is warranted.