Caudal regression syndrome associated with obstructive genital tract anomaly

Transverse vaginal septum (TVS) is a rare obstructive genital tract anomaly. It is associated with primary amenorrhoea and typically presents with cyclical abdominal pain due to obstruction of the menstrual flow. Caudal regression syndrome (CRS) is also a rare congenital anomaly that is frequently associated with anomalies of the neurological, musculoskeletal, cardiac, genitourinary and gastrointestinal systems. Obstructive genital tract anomaly in CRS is exceptionally rare. This report describes the case of a girl in early adolescence with underlying CRS who presented with severe abdominal pain associated with primary amenorrhoea. Clinical and radiological assessment revealed 'haematocolpos' manifesting as a tender 20 weeks' size abdominal mass and an absent vaginal opening. TVS was identified during examination under anaesthesia. The patient subsequently underwent a successful vaginoplasty with no recurrence of symptoms after 2 years.