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

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.