Quantification of the familial contribution to müllerian anomalies.
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).


CONCLUSIONS
Müllerian anomalies have a strong familial aggregation and follow a polygenic and multifactorial inheritance.


METHODS
II.
Hammoud
Ahmad O
AO
Division of Reproductive Endocrinology & Infertility, Department of Obstetrics & Gynecology, University of Utah School of Medicine, Salt Lake City, Utah 84132, USA. ahmad.hammoud@hsc.utah.edu
Gibson
Mark
M
Peterson
C Matthew
CM
Kerber
Richard A
RA
Mineau
Geraldine P
GP
Hatasaka
Harry
H
D016000:Cluster Analysis; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D015994:Incidence; D008297:Male; D016555:Matched-Pair Analysis; D008487:Medical History Taking; D009095:Mullerian Ducts / Q000002:abnormalities*; D020412:Multifactorial Inheritance; D016017:Odds Ratio; D010375:Pedigree; D019655:Quantitative Trait, Heritable; D012042:Registries; D018570:Risk Assessment; D012307:Risk Factors; D014589:Utah