17. Should we screen for Müllerian anomalies following diagnosis of congenital renal anomaly?

Abstract

<h3>Background</h3> Despite the well-established embryological relationship in the development of renal and Müllerian structures, no guidelines exist regarding screening for Müllerian anomalies (MA) in the setting of a renal anomaly (RA). Delayed diagnosis of MA can have significant reproductive consequences. The primary outcome of this study is to evaluate the prevalence and types of MA associated with various RA. <h3>Methods</h3> This is a retrospective cohort study of females age 12-35 years with a diagnosis of RA, identified by ICD-10 codes, who were followed for care between 2013-2020. Data were collected on demographics, medical history, imaging studies, and clinical presentation. MA were characterized using the American Society for Reproductive Medicine classification system. Descriptive statistics were used to summarize the data. This study was IRB approved. <h3>Results</h3> Of 490 patients identified, 365 met inclusion criteria and 264 had pelvic imaging performed. In patients with ARM, 77% had MA. Excluding patients with ARM, MA were found in 67% of patients with unilateral renal agenesis, 25% with horseshoe or fused kidneys, 25% with pelvic or ectopic kidneys, and 23% with renal hypoplasia or dysplasia. Overall 129/264 (49%) were diagnosed with MA, including 18% Müllerian agenesis, 18% unicornuate uterus, 47% uterine didelphys, 12% bicornuate uterus, and 6% septate uterus. Fifty-two patients had Müllerian obstruction at the time of diagnosis, including 36 with obstructed hemivagina and ipsilateral renal agenesis. Forty-eight underwent urgent surgery, including 2 with pyocolpos, and 4 were treated with initial hormonal suppression. The average age of RA diagnosis was 4 years, compared to 18 years for MA (range 0-36 years for both). In 3 patients, MA was diagnosed prior to RA, and in 21 cases, both anomaly diagnoses were made simultaneously. The most common imaging modality performed was pelvic ultrasound (58%), often followed by magnetic resonance imaging (32%). Imaging was most commonly performed for abdominal pain or dysmenorrhea. In 15% of cases, pelvic ultrasounds were performed for obstetric reasons. Only 5% of patients had routine screening to evaluate pelvic anatomy; a quarter of whom were pre-pubertal. <h3>Conclusions</h3> Almost half of patients with congenital RA are eventually diagnosed with MA, of whom 40% have an obstructive anomaly. Screening for MA in patients with RA near the time of menarche can prevent delays in diagnosis that could have significant implications on reproductive health and quality of life.