(131) VACTERL-Gynecologic: time for a change to standardize screening for patients with an anorectal malformation

Background: For the patient with an anorectal malformation (ARM), it is an immediate trigger to perform a VACTERL workup because of the well-known association of other organ anomalies. However, sometimes forgotten in the female patient, is to assess for gynecologic abnormalities. It is well established that 2.2-52.6% of patients with ARMs may have a Mullerian anomaly and VACTERL does increase this risk.

Case: An assigned female at birth (AFAB) patient with a rectovestibular fistula had a repair days after birth. It was documented she had a normal vagina, but no vaginoscopy was done. She was diagnosed with VACTERL syndrome. Ultrasound on day 2 of life could not identify a uterus nor ovaries. Before age 3, she had 5 pelvic ultrasounds to assess for gynecologic anatomy, but none were conclusive. She was seen by a pediatric adolescent gynecologist (PAG) at 3 years old, who recommended follow up 6 months after signs of breast development, where rising estrogen levels would stimulate her uterus and ovaries to become more visible on diagnostic imaging. She had an MRI at 13 years old, which visualized both ovaries but no uterus, cervix nor vagina, confirming Mullerian agenesis. Her family confided that the uncertainty about her diagnosis over the years has caused anxiety and wished to have known earlier.

Comments: Prepubertal diagnostic imaging cannot reliably discern Mullerian structures as they are very small. Performing a vaginoscopy at her surgery could have diagnosed vaginal agenesis sooner. Patients with ARM do not routinely receive a gynecologic evaluation, which can lead to missed diagnoses, menstrual problems at the time of puberty, abnormal sexual function, and preventable anxiety. The anatomy in these patients can be challenging, and although it may seem that there is a vaginal orifice at the time of initial surgery, without vaginoscopy it is almost impossible to know if there is vaginal agenesis or other Mullerian anomaly present. In some countries, routine screening for gynecologic anomalies in girls born with ARM has been implemented, consisting of physical exam, abdominal ultrasound +/- MRI, vaginoscopy prior to reconstructive surgery for ARM, and collaboration with gynecology.
To ensure that there is a routine screening for Mullerian anomalies in these patients, we propose to change the VACTERL acronym to VACTERL-G, to include gynecologic anomalies. This would reflexively alert the pediatric surgeon to consider gynecologic abnormalities and contact a PAG, who could perform an examination and vaginoscopy at the time of anorectal repair surgery. The family would have more information, adequate gynecologic follow up with a plan for further imaging around the time of puberty and improve these patients’ reproductive future.