Obstet Gynecol. 2008 Feb;111(2):378-384.
Quantification of the Familial Contribution to Mullerian Anomalies.
Hammoud AO, Gibson M, Peterson CM, Kerber RA, Mineau GP, Hatasaka H.
Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, University of Utah School of Medicine, Salt Lake City, Utah; and Department of Oncological Sciences, University of Utah-Huntsman Cancer Institute, Salt Lake City, Utah.
Objectives:
To quantify the familial contribution to m?lerian anomalies and determine a possible inheritance pattern.
Methods:
Cases of m?lerian 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 m?lerian anomalies appear to be attributable to a familial association. The relative risk for m?lerian 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:
Mullerian anomalies have a strong familial aggregation and follow a polygenic and multifactorial inheritance.



