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

• Published in: Journal of pediatric urology 2022-10, Vol.18 (5), p.676.e1-676.e7
• Main Authors: Fei, Y. Frances, Smith, Yolanda R., Wan, Julian, Dendrinos, Melina L., Winfrey, Olivia K., Quint, Elisabeth H.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; CAKUT; Child; Female; Humans; Kidney - abnormalities; Kidney Diseases - diagnosis; MCDK; Müllerian anomaly; OHVIRA; Renal anomaly; Retrospective Studies; Solitary kidney; Solitary Kidney - diagnosis; Unilateral renal agenesis; Urogenital Abnormalities - complications; Urogenital Abnormalities - diagnosis; Urogenital Abnormalities - epidemiology; Uterus - abnormalities; Vagina - abnormalities; Young Adult
• ISSN: 1477-5131; 1873-4898
• DOI: 10.1016/j.jpurol.2022.04.017

Despite the well-established embryological relationship in the development of renal and Müllerian structures, no clear 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. To investigate the prevalence of coexisting MA in patients with congenital RA. This is a retrospective cohort study of females age 12–35 years with a diagnosis of RA, identified by diagnosis codes, who were followed for care between 2013 and 2020. Data were collected on demographics, medical history, clinical presentation, and imaging studies. Descriptive statistics were used to summarize the data. This study was IRB approved. A total of 465 patients were included in this study, of whom 326 patients (70.3%) had a pelvic evaluation during the study period. Of these 326 patients, 125 (38.3%) were found to have coexistent MA. About one-third of patients who underwent pelvic evaluation due to pain were found to have MA. For 69.6% (87/125) of patients with MA, the RA was diagnosed prior to the MA. The average age at time of RA diagnosis was 6.4 ± 8.8 years and the average age of MA diagnosis was 16.4 ± 6.9 years. Forty-eight (38.4%) patients had obstructive anomalies. Of the Müllerian obstructions, 93.8% were treated with urgent surgery and the remainder started on hormonal suppression. The prevalence of MA was dependent on the RA diagnosis (Figure). Of patients with a solitary kidney, 67.1% were diagnosed with MA. For other parenchymal RA, the prevalence of MA was 20–23%. In patients with solitary kidney, uterus didelphys was the most common MA (52.1%). Thirty percent of patients with a solitary kidney were diagnosed with an obstructive MA. In this study, 38% of patients with RA who underwent a pelvic evaluation were found to also have MA. Our study shows the strongest association between MA and solitary kidney, but also emphasizes a significant risk with other RA. Almost 40% of patients with diagnosed MA were found to have an obstruction that required urgent treatment. Delays in diagnosis and treatment of Müllerian obstructions can be detrimental for future reproductive health, due to risk of chronic pain, infertility, infection, and endometriosis. Given the high prevalence of MA in patients with RA, especially those with congenital solitary kidney, routine screening with pelvic ultrasound should be performed around the age of expected menarche. [Display omitted]