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Persistent mullerian duct syndrome

Divya Renu1, B Ganesh Rao, K Ranganath

  • 1Department of Radiodiagnosis, RAGAVS Diagnostic and Research Centre Pvt Ltd, Sadguru Complex, No.14, 27 Cross, 4 Block West, Jayanagar, Bangalore - 560 011, India.

The Indian Journal of Radiology & Imaging
|March 31, 2010
PubMed

Insights

Persistent Mullerian duct syndrome (PMDS) is a rare condition where males develop female internal reproductive organs. This case highlights imaging features of PMDS with associated conditions like cryptorchidism and inguinal hernia.

Area of Science:

  • Reproductive Endocrinology
  • Medical Imaging
  • Pediatric Surgery

Background:

  • Persistent Mullerian duct syndrome (PMDS) is a rare intersex condition.
  • Characterized by the presence of Mullerian duct derivatives (uterus, cervix, fallopian tubes, upper vagina) in a male individual.
  • This occurs due to mutations in genes like AMH or AMHR2, affecting Mullerian duct regression.

Observation:

  • Presents a case of PMDS in a phenotypically and karyotypically male patient.
  • The patient exhibited bilateral cryptorchidism and a left-sided inguinal hernia.
  • Imaging studies, including Ultrasound (USG) and Magnetic Resonance Imaging (MRI), were crucial for diagnosis.

Findings:

  • USG and MRI clearly visualized the persistent Mullerian structures within the male pelvis.
  • Demonstrated the presence of a uterus, cervix, and fallopian tubes.
  • Correlated imaging findings with clinical presentation of cryptorchidism and inguinal hernia.

Implications:

  • Highlights the importance of imaging in diagnosing PMDS, especially when associated with other congenital anomalies.
  • Accurate diagnosis aids in surgical planning for managing cryptorchidism and hernia, while considering the presence of Mullerian remnants.
  • Contributes to understanding the spectrum of PMDS and its management in pediatric cases.
Keywords:
CryptorchidismMRIUSGinguinal herniamullerian duct derivativesmullerian inhibiting factorpseudohermaphroditism

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