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Genetics Studies in Incomplete Müllerian Fusion

Department of Obstetrics and Gynecology, Section of Human Genetics, Northwestern University Medical School; the Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology and Infertility, Michael Reese Hospital, University of Chicago, Chicago, Illinois; and the Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas.

No formal genetic studies of incomplete müllerian fusion anomalies have been conducted previously, despite several reports of familial aggregates. Accordingly, the authors sought to determine the frequency with which symptomatic müllerian fusion anomalies occurred in relatives of a small but genetically unbiased sample of 24 probands. Only one of 37 (2.7%) female sibs over age 16 appeared to have a symptomatic uterine anomaly; none of 24 mothers, none of 45 maternal aunts, and none of 50 paternal aunts appeared affected. Such a low frequency of affected relatives is more consistent with polygenic/multifactorial etiology than with other genetic etiologies.