Imperforate hymen is an uncommon obstructive anomaly of the female reproductive tract, which usually presents with intermittent and cyclical abdominal pain. Although it is usually sporadic, four cases of familial occurrence of imperforate hymen have been reported so far. Imperforate hymen is seldom associated with complications if it is detected early. In view of the possible familial occurrence, it is important to have a high index of suspicion in women who present with imperforate hymen. A detailed menstrual history of other female family members is necessary to enable early detection.
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.