Persistent Mullerian Duct Syndrome with Polysplenia and Short Pancreas: A Case Report

Area of Science:

• Endocrinology
• Genetics
• Pediatric Surgery

Background:

• Persistent Mullerian duct syndrome (PMDS) is a rare disorder of sexual development characterized by the persistence of Müllerian duct derivatives in 46,XY individuals.
• It results from insufficient Müllerian inhibiting substance (MIS) or target organ insensitivity to MIS.
• Polysplenia is a rare congenital anomaly involving multiple accessory spleens, often associated with other visceral anomalies.

Observation:

• A 27-year-old male presented with right flank pain and nausea, diagnosed with ureteric calculus and hydronephrosis.
• Imaging revealed an elongated soft tissue mass posterior to the bladder, suggestive of infantile uterine structures, alongside multiple splenic nodules (splenuli) and a short pancreas.

Findings:

• The patient was diagnosed with Persistent Mullerian duct syndrome, unilateral cryptorchidism, polysplenia, and short pancreas, discovered incidentally during evaluation for ureteric colic.
• This represents a rare association between PMDS and polysplenia, not previously reported in medical literature.

Implications:

• This case underscores the importance of recognizing rare congenital anomalies and their potential co-occurrence.
• It highlights the diagnostic challenges and the need for comprehensive evaluation in patients with seemingly unrelated symptoms.
• Further research into the genetic and developmental pathways underlying these associated conditions may be warranted.