Long-term gynecological outcome of patients with persistent cloaca.

PURPOSE: Persistent cloaca is a complex malformation that remains a difficult reconstructive challenge, and data on long-term outcome are scarce. Gynecological abnormalities are common with cloaca but may remain asymptomatic until puberty or adult life. We evaluate long-term gynecological sequelae in these patients with persistent cloaca.
MATERIALS AND METHODS: The records and radiographs of postpubertal patients (mean age 16.8 years, range 10 to 32) treated for cloacal malformation at 1 institution from 1970 to 2001 were retrospectively reviewed. Outcome data at puberty were available in 41 patients. Of the patients 24 are currently older than 16 years and outcome data for sexual activity were available in 21 with 3 lost to followup.
RESULTS: All 41 patients were evaluated at puberty, and 28 (68%) had uterine function, 13 (32%) were menstruating normally and 15 (36%) presented with hematometra/hematocolpos. All 15 girls with an obstructed uterus required surgery, which included hysterectomy in 2, partial hysterectomy with vaginoplasty in 3 and vaginoplasty in 9. There was 1 complex case of fistula. Etiology of the obstructed uterus was vaginal stenosis after reconstruction in 3 cases, stenosis of persistent urogenital sinus (no previous reconstruction) in 11 and cervical stenosis in 1. Ten patients experienced primary amenorrhoea, which was confirmed in 8 (20%) while 2 (5%) continue to be followed for possible cryptic obstruction. In 10 girls the diagnosis of absent/vestigial uterus was made at early laparotomy but this was erroneous in 6 in whom uterine function developed at puberty. Of the 21 older girls (age at review 17 to 32 years, mean 24) 12 are or have been sexually active and 6 have been examined by a gynecologist and have an adequate vagina but are not sexually active. To date 4 patients have required revision vaginal surgery in adulthood to facilitate intercourse (re-do vaginoplasty in 3, introitoplasty in 1). One woman has postponed vaginal reconstructive procedures and 2 others are currently being followed. There have been no pregnancies in this series to date.
CONCLUSIONS: Patients born with persistent cloaca have a high incidence of gynecological problems at the onset of menses and in early adult life. Therefore, it is necessary to reassess these girls at early puberty by ultrasound/magnetic resonance imaging and vaginoscopy. Additional surgery may then be necessary to create a vagina for menstruation and sexual intercourse.