Persistent Mullerian duct syndrome: rare presentation in an elderly man

Area of Science:

• Endocrinology
• Genetics
• Reproductive Medicine

Background:

• Persistent Mullerian duct syndrome (PMDS) is a rare autosomal recessive disorder causing internal male pseudohermaphroditism.
• Characterized by the presence of Mullerian duct derivatives in individuals with a 46,XY karyotype and normal virilization.
• Typically presents in childhood with cryptorchidism or inguinal hernias.

Observation:

• A case of an elderly male evaluated for bilateral undescended testes.
• Imaging revealed a pelvic mass, suspected to be a malignant transformation of an undescended testis.
• Surgical exploration identified a uterus with fibroids, bilateral fallopian tubes, cervix, and bilateral atrophic testes.

Findings:

• Contrast CT and MRI failed to detect Mullerian structures due to the patient's varied presentation.
• Histopathology confirmed uterine leiomyomas, fallopian tubes, cervix, and testes.
• This case underscores the diagnostic challenges of PMDS, especially in adults.

Implications:

• Highlights the importance of thorough surgical exploration and histopathological examination in diagnosing rare genetic conditions.
• Suggests that imaging may miss Mullerian structures in atypical presentations of PMDS.
• Emphasizes the need for increased awareness of PMDS in adult patients presenting with undescended testes and pelvic masses.