Study Objective

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.

Results

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.

Conclusions

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.

中文翻译：

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在诊断为肾脏异常的女性中发生苗勒氏异常的情况

研究目的

表征肾异常（RA）患者中缪勒氏异常（MA）的患病率。

设计，设置，参与者，干预措施和主要结果指标

回顾性分析了2007年至2019年之间就诊于学术儿科医院的RA类女性患者。使用《国际疾病分类》第9版和第10版修订版识别患者。收集的数据包括RA的类型，MA的存在和类型，诊断方法以及相关的异常情况。进行了RA亚型分析。

结果

我们确定了2007年至2019年的5590例RA患者。进行了随机回顾性图表审查，结果研究了363名RA患者。在全部RA人群中，任何MA的患病率为104/363（29％）（95％的置信区间为24％-33％）。肾发育不全患者的MA患病率为59/182（32％），而肾发育不全患者的MA患病率为45/181（25％）。最常见的MA是Müllerian导管融合失败。在RA诊断时，只有73/352（21％）的患者接受了MA筛查。在未诊断出MA 187/259（72％）的患者中，未经筛查且尚未月经或月经状态未知。

结论

在所有RA患者中，有29％（n = 104/363）患有潜在的MA。肾发育不全和发育不全患者的MA患病率无差异。注意的局限性是，有些患者可能处于对Müllerian结构的评估不理想的年龄，或者可能没有经过筛查。这些结果表明需要进行前瞻性研究，以确定在患有任何RA的患者中筛查MA的循证指南，以免因无法识别的MA引起并发症。