Genetics of Polycystic Ovary Syndrome

2014-08-27 03:31:47 | BioPortfolio


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.

Study Design

Observational Model: Case-Only, Time Perspective: Prospective




University of Pennsylvania
United States




University of Pennsylvania

Results (where available)

View Results


Published on BioPortfolio: 2014-08-27T03:31:47-0400

Clinical Trials [272 Associated Clinical Trials listed on BioPortfolio]

The Study of Polycystic Ovary Syndrome(PCOS) With Gene and Questionnaire

Polycystic ovary syndrome (PCOS) is an extremely common disorder in women of reproductive age. Diagnosis of PCOS is principally based on clinical and physical findings. Diagnostic criteria...

Bisphenol Role in the Pathogenesis of PCOS

Polycystic ovary syndrome (PCOS) is the most common and the most heterogeneous endocrine disorder in premenopausal women. Its prevalence is estimated from 5 to 10% depending on the diagnos...

Prevalence of Polycystic Ovary Syndrome (PCOS) in Obese Premenopausal Women

Between 40% and 85% of women with Polycystic Ovary Syndrome (PCOS) are overweight or obese and obesity is closely linked to the development of PCOS. Although it is well established that ob...

Biomarker Screening of PCOS With IR by Metabonomics Technique and Its Relationship With TCM Syndrome Type

The type-2 diabetes mellitus(T2DM), metabolic syndrome, cardiovascular disease complications induced by polycystic ovary syndrome(PCOS) with insulin resistance(IR), which become serious ...

Comparison of Probiotics, Metformin & Their Combination Therapy in the Treatment of PCOS

Polycystic ovary syndrome (PCOS) is a common gynecological state worldwide characterized by numerous small cysts in the ovaries mainly due to the imbalance of endocrine hormones in premeno...

PubMed Articles [158 Associated PubMed Articles listed on BioPortfolio]

Hyperandrogenemia and insulin resistance: The chief culprit of polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is one of the most common systemic reproductive endocrine diseases, which has a variety of effects on a woman's health. Because of the involvement of multiple pathways...

Circulating levels of C1q/TNF-α-related protein 6 (CTRP6) in polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders affecting females of reproductive age. It has been associated with cardiometabolic disorders including diabetes mellitus ...

Polycystic Ovary Syndrome (PCOS) Is Associated With NASH Severity and Advanced Fibrosis.

Polycystic ovary syndrome (PCOS) affects 10% of reproductive-aged women, and is marked by irregular menses and high androgens. PCOS is a known risk factor for imaging-confirmed steatosis, and we now a...

Midlife women's health consequences associated with polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is one of the most common female endocrinopathies. Its symptoms may appear as early as adolescence and may include irregular menstrual periods, amenorrhea, hirsutism a...

A New Approach to Polycystic Ovary Syndrome: The Gut Microbiota.

Polycystic ovary syndrome (PCOS) is a widespread endocrine disease that affects 6% to 20% of women of reproductive age and is associated with high risk of infertility, obesity, and insulin resistance....

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