Anorectal malformations (ARMs) are an uncommon congenital abnormality, affecting approximately 1 in 5,000 children.1,2 In females, the most common ARM is a rectoperineal fistula.Other subtypes of ARM include cloaca, imperforate anus without fistula, rectovestibular fistula, and rectovaginal fistula.3 Screening for associated anomalies is recommended in new diagnoses of ARM to allow for appropriate identification and management, and ARM is frequently associated with the VACTERL association, including vertebral, cardiovascular, tracheoesophageal, renal, and limb defects.4,5 Females with ARM are specifically at higher risk of anatomic gynecologic anomalies including vaginal agenesis, distal vaginal atresia, presence of a longitudinal vaginal septum, and Mullerian duct anomalies (MDAs) such as uterine didelphys.6 Prevalence of upper tract gynecologic abnormalities involving the uterus and adnexa may occur in anywhere from 20-50% of patients.7

MDAs can be difficult to diagnose prior to puberty, given the small size of these structures prior to estrogen stimulation, the variation in density of the myometrium, and a wide range of possible variations in gynecologic anatomy.8,9 Following puberty, patients with MDA may be asymptomatic, or may present with primary amenorrhea, abdominal-pelvic pain, and, as adults, infertility or recurrent pregnancy loss.10 Early identification of MDAs is critical for anticipatory guidance about future reproductive health – including the risk of menstrual outflow obstruction, contraceptive guidance, and pregnancy counseling. Identifying patients at risk of menstrual outflow obstruction early allows for the initiation of menstrual suppression and surgical intervention, which can reduce symptoms and help prevent long-term consequences such as infertility and endometriosis.11 Given the strong association between MDA and ARM, historically screening PUS has been recommended for this patient population. However, there is limited data examining the utility of this recommendation.12

We sought to determine adherence to recommendations for screening PUS after thelarche in patients with ARM. Secondarily, we aimed to understand whether screening PUS correlates with suspected Mullerian anatomy, and to identify if PUS can identify situations requiring further intervention.