Caudal regression syndrome associated with obstructive genital tract anomaly

Area of Science:

• Reproductive Medicine
• Pediatric Surgery
• Genetics and Congenital Anomalies

Background:

• Transverse vaginal septum (TVS) is a rare congenital anomaly causing menstrual obstruction and primary amenorrhea.
• Caudal regression syndrome (CRS) is a complex congenital disorder affecting multiple systems, with genitourinary anomalies being common.
• Obstructive genital tract anomalies are exceptionally rare in patients with CRS.

Observation:

• A case report of an adolescent female with underlying CRS presented with severe cyclical abdominal pain and primary amenorrhea.
• Clinical and radiological findings revealed a significant hematocolpos, presenting as a tender abdominal mass.
• Examination under anesthesia identified a transverse vaginal septum as the cause of obstruction.

Findings:

• The patient was diagnosed with a transverse vaginal septum in the context of Caudal Regression Syndrome.
• Successful surgical intervention through vaginoplasty was performed to correct the obstructive anomaly.
• The patient experienced complete symptom resolution with no recurrence after a 2-year follow-up.

Implications:

• This case highlights the rare but significant association between CRS and obstructive genital anomalies like TVS.
• Early diagnosis and surgical management of TVS are crucial for alleviating symptoms and improving quality of life in affected individuals.
• Further research may elucidate the specific mechanisms linking CRS and complex genital tract malformations.