The Prevalence of Müllerian Anomalies in Women with a Diagnosed Renal Anomaly

To characterize the prevalence of Müllerian anomalies (MAs) among patients with renal anomalies (RAs). DESIGN, SETTING, PARTICIPANTS, INTERVENTIONS, AND MAIN OUTCOME MEASURES: A retrospective chart review of female patients with RAs who presented to an academic pediatric hospital between 2007 and 2019 was performed. Patients were identified using International Classification of Diseases 9th and 10th revision codes. Data collected included the type of RA, presence and type of MA, method of diagnosis, and associated anomalies. RA subtype analysis was performed.

We identified 5590 cases of RA for the years 2007 through 2019. A random, retrospective chart review was performed resulting in a study population of 363 RA patients. The prevalence of any MA in the overall RA population was 104/363 (29%) (95% confidence interval, 24% - 33%). The prevalence of MA for patients with renal agenesis was 59/182 (32%) compared with 45/181 (25%) for patients with renal dysgenesis. The most common MA were failures of Müllerian duct fusion. Only 73/352 (21%) of patients received screening for a MA at the time of RA diagnosis. Of patients without a diagnosed MA 187/259 (72%) were unscreened and either not yet menarchal or had unknown menarchal status.

Of all RA patients, 29% (n = 104/363) had an underlying MA. No difference was found in the prevalence of MA in patients with renal agenesis vs dysgenesis. Limitations noted are that some patients might be of an age at which assessment of the Müllerian structures is suboptimal or who might not have been screened. These results suggest the need for a prospective study to determine evidence-based guidelines for screening for MA among patients diagnosed with any RA to avoid complications from an unrecognized MA.