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

Katherine L. O'Flynn O'Brien MD, Vinaya Bhatia MD, Mona Homafar MD, Yuan Yuan Gong MD, Mary Taylor Winsten BS, Jonathan Gerber MD, Jennifer E. Dietrich MD, MSc

J Pediatr Adolesc Gynecol. 2021 Apr;34(2):154-160. 

1)          The authors performed a sample size calculation for this study. What is a sample size calculation and the rationale for it? What potential issues may arise when the sample size is too small or too large?

Answer: A sample size calculation is the calculated and optimum number of participants in a study, and the rationale of a sample size calculation is generally to determine the enough number of participants needed to avoid bias in interpreting results. When the sample size is too small, the results may not be generalizable to the population. The study may also not be large enough to detect meaningful differences in test groups. If the sample size is too large, this may be burdensome to the researchers’ time and costs or put more individuals at risk of an intervention.

2)          The authors discuss considerations for developing a screening protocol for mullerian anomalies (MA) in patients with a renal anomaly (RA). What are the potential positive and negative effects from a screening protocol?

Answer: The authors discuss the screening protocol should consider the timing of various imaging, as reproductive structures can be challenging to visualize at some developmental stages. The authors also discuss the timing of surgical intervention for MAs as it may depend on patient’s willingness, distension of tissue via menstrual products, and postoperative dilation. The authors describe the positive potential for preemptive counseling of patients and families for these issues. Increased awareness may allow for earlier intervention prior to pain or other sequelae such as endometriosis or infertility. Providers should consider the potential psychosocial impact earlier knowledge of possible but undiagnosed MA may have on patients and their families.

3) Why are patients with a RA more likely to have a MA? Describe the process in embryologic development that connects the renal and mullerian systems.

Answer: Per the article, “the Wolffian, or mesonephric ducts, arise from the undifferentiated urogenital ridge. At approximately week 6 of fetal development, they induce the formation of the Mullerian, or paramesonephric ducts, which ultimately will form the uterus, cervix, fallopian tubes, and the upper two-thirds of the vagina. The Wolffian ducts give rise to the ureteric bud, which together with the metanephric mesenchyme, will ultimately differentiate into the kidney. Because of the complex inter-relation of these primordial structures, developmental problems in one system are frequently a sign of an associated defect in the other.” 

4. The authors conclude that almost one-third of patients with a RA have an underlying MA diagnosis. They indicate that this number might be an underestimate. Why is this the case? 

Answer: It is likely that there are additional unrecognized patients with a MA as many have not yet been screened, or some might not be old enough to have undergone menarche, which is when patients typically find out about a MA diagnosis if there is one. The authors discuss that contributing factors to this lack of data include a failure of intentional MA screening, unknown menarchal status, or a patient’s age was such that mullerian structures would be suboptimally visualized on imaging. Due to these considerations, the authors conclude that there is likely a subset of patients with a silent MA and therefore, the actual rate of MA is likely higher than 29%. 

5. What are some limitations of the study?

Answer: Limitations include:

  • The sample size calculation is based on limited historical data
  • There is a large number of patients with an unknown MA status due the nature of the study being a retrospective chart review with some patients not yet diagnosed
  • There is possibly incorrect ICD-9 and ICD-10 coding at the institution where data was collected, thus leading to a subsequent selection bias
  • The study uses a random subset of charts to analyze versus including all patients with a RA diagnosis at the institution