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Persistent Müllerian Duct Syndrome on 18F-FDG PET/CT.

Siang Shen1, Bitian Liu2, Jun Xin1

  • 1Department of Nuclear Medicine.

Clinical Nuclear Medicine
|April 10, 2026
PubMed
Summary
This summary is machine-generated.

A man with limb weakness was diagnosed with persistent Müllerian duct syndrome (PMDS), a rare disorder. The condition involved an abdominopelvic mass, cryptorchidism, and uterine tissue, highlighting the importance of early diagnosis.

Keywords:
Infertilitycryptorchidismmalignant degenerationpersistent Mullerian duct syndrome

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Area of Science:

  • Medical Imaging
  • Endocrinology
  • Oncology

Background:

  • Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive disorder.
  • It affects individuals with a male phenotype, characterized by cryptorchidism and the presence of Müllerian structures.
  • Early diagnosis is crucial to prevent potential malignant transformation.

Purpose of the Study:

  • To report a rare case of persistent Müllerian duct syndrome (PMDS) in an adult male presenting with Guillain-Barré syndrome and an abdominopelvic mass.
  • To highlight the diagnostic utility of imaging modalities, including 18F-FDG PET/CT, in identifying PMDS.
  • To emphasize the importance of recognizing PMDS for appropriate management and prevention of complications.

Main Methods:

  • Clinical presentation of a 32-year-old male with limb weakness and abdominal distension.
  • Diagnostic imaging including CT and 18F-FDG PET/CT to evaluate the abdominopelvic mass and associated structures.
  • Surgical biopsy and histopathologic examination for definitive diagnosis.

Main Results:

  • The patient was diagnosed with Guillain-Barré syndrome and an abdominopelvic mass.
  • Imaging revealed a heterogeneously enhancing mass with bilateral cryptorchidism and uterine-like tissue.
  • Histopathology confirmed seminoma and rudimentary uterine tissue, establishing the diagnosis of PMDS.

Conclusions:

  • This case underscores the importance of considering PMDS in males presenting with cryptorchidism and abdominopelvic masses.
  • 18F-FDG PET/CT can aid in differentiating between malignant and non-malignant tissues within the context of PMDS.
  • Timely diagnosis and surgical intervention are essential for managing PMDS and mitigating the risk of malignant transformation.