OBJECTIVE: To quantify the familial contribution to müllerian anomalies and determine a possible inheritance pattern.
METHODS: Cases of müllerian anomalies, identified by International Classification of Diseases and Current Procedural Terminology codes from January 1994 to March 2006, were collected from the largest hospital systems in the state of Utah. All records were subsequently matched to the Utah Population Database. Controls for this data set were randomly selected and matched based on birth year and gender. Highly specialized software “Kinship Analysis Tools (KAT)” was used for kinship analysis.
RESULTS: A total of 1,397 cases qualified for the final analysis. The kinship analysis tool identified 27 family clusters. The mean familial standardized incidence ratio was 3.43(P<.01). Using the adjusted “Population Attributable Risk,” approximately 10% of cases of müllerian anomalies appear to be attributable to a familial association. The relative risk for müllerian anomalies in each class of kinship was as follows: first-degree relatives 11.6 (95% confidence interval [CI] 5.42–24.82), parents/children 8.78 (95% CI 2.26–34.16), siblings 12.98 (95% CI 5.17–32.62), first cousins 1.44 (95% CI 0.76–2.76), and second cousins 1.30 (95% CI 0.96–1.77).
CONCLUSION: Müllerian anomalies have a strong familial aggregation and follow a polygenic and multifactorial inheritance.
LEVEL OF EVIDENCE: II