Persistent Mullerian Duct Syndrome with Transverse Testicular Ectopia

Area of Science:

• Endocrinology
• Genetics
• Surgical Urology

Background:

• Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sexual development in 46, XY males, characterized by the presence of Mullerian duct remnants.
• Transverse testicular ectopia (TTE) is an uncommon congenital anomaly where both testes are found in the same inguinal canal, with an empty contralateral scrotum.

Observation:

• A 25-year-old male presented for surgical repair of a right inguinal hernia.
• Intraoperative findings revealed the presence of Mullerian duct structures and bilateral testes within the right inguinal canal, consistent with PMDS and TTE.

Findings:

• The patient was diagnosed with a rare co-occurrence of Persistent Mullerian duct syndrome and Transverse testicular ectopia.
• Surgical exploration for an inguinal hernia led to the unexpected diagnosis of these rare congenital anomalies.

Implications:

• This case underscores the diagnostic challenges and varied presentations of PMDS and TTE.
• Early recognition and surgical evaluation are crucial for managing these rare intersex conditions.
• Further research into the genetic and developmental pathways of PMDS and TTE may improve clinical outcomes.