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Genetics of Polycystic Ovary Syndrome

This study has been completed.
University of Iowa
Information provided by (Responsible Party):
University of Pennsylvania Identifier:
First received: March 26, 2008
Last updated: May 8, 2013
Last verified: November 2011
March 26, 2008
May 8, 2013
February 2008
January 2012   (Final data collection date for primary outcome measure)
PCOS gene identification. [ Time Frame: December 2010 ]
Same as current
Complete list of historical versions of study NCT00647335 on Archive Site
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Genetics of Polycystic Ovary Syndrome
Population Genetics of Polycystic Ovary Syndrome
The purpose of this study is to look at genes (DNA) and how they affect health and disease. Genes are the instruction manual for the body. The genes you get from your parents decide what you look like and how your body behaves. They can also tell us a person's risk for certain diseases and how they will respond to treatment. We will collect a saliva sample for genetic research.

Polycystic ovary syndrome (PCOS) is a common endocrine disorder of women, characterized by elevated levels of male hormones, absent menstruation, infrequent or very light menstruation, and reduced ability to reproduce. Genetic factors likely contribute to the etiology of PCOS, but no genes have been identified with certainty. The findings from these studies will enhance our understanding of the genetics of PCOS, a major contributor to female infertility. Better knowledge of "PCOS genes" will also help in predicting responses to treatments for infertility, insulin resistance, and other aspects of the disease.

Women with PCOS may be eligible to participate in this study if they are between the ages of 18 and 50 and have two living biological parents who are also willing to participate. Study participation involves telephone screening and consent and home collection by subjects (probands) and their parents of sputum (saliva) in a provided container. Specimen containers and signed consent forms will be returned to the study site by mail.

The major goal of this research project, the identification of genes contributing to PCOS, will provide basic understanding of the genotype-phenotype relationships that contribute to features of PCOS. Knowledge of "PCOS genes" would assist physicians in predicting and assessing responses to interventions that promote fertility, improve insulin sensitivity, and treat other aspects of the disease.

Observational Model: Case-Only
Time Perspective: Prospective
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Retention:   Samples With DNA
Non-Probability Sample
Women with a diagnosis of PCOS undergoing treatment at University of Pennsylvania and University of Iowa.
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Women with diagnosis of PCOS
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
January 2012
January 2012   (Final data collection date for primary outcome measure)

Inclusion Criteria:

  • Diagnosis of PCOS
  • Both biological parents alive
  • Yes to both answers and parents willing to participate

Exclusion Criteria:

  • Healthy women
Sexes Eligible for Study: Female
Child, Adult, Senior
Contact information is only displayed when the study is recruiting subjects
United States
University of IOWA# 200707772
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University of Pennsylvania
University of Pennsylvania
University of Iowa
Principal Investigator: Anuja Dokras-Jagasia, MD, PhD University of Pennsylvania
Principal Investigator: Brad V Voorhis, MD University of Iowa
University of Pennsylvania
November 2011

ICMJE     Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP