Multiethnic Fine-Mapping of Polycystic Ovary Syndrome Susceptibility Loci supported by R01 HD085227 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development

Polycystic ovary syndrome (PCOS) is one of the most common diseases of women worldwide, affecting up to 15% of young women worldwide. Symptoms include irregular menstrual periods, usually fewer than 8 periods per year, but occasionally, more frequent and prolonged bleeding; increased male pattern hair growth known as hirsutism and increased body weight. Many women with PCOS have anxiety or depression. PCOS is a leading cause of infertility. Further, it is a major risk factor for type 2 diabetes (adult-onset) in teenage girls and young women. PCOS also increases the risk for heart attacks and strokes.

Study Objectives

The cause of PCOS is unknown. However, it runs in families indicating that genes are important in the development of PCOS. Because PCOS is inherited, sisters and daughters of women with PCOS are at increased risk to develop PCOS themselves. Brothers and fathers of women with PCOS are at increased risk for type 2 diabetes and obesity. Identifying the genes that cause PCOS will lead to a better understanding of and new treatments for PCOS. All studies have been approved by the Institutional Review Board (IRB) of Northwestern University Feinberg School of Medicine. The privacy of participants is strictly protected.


Women with PCOS and women with irregular menstrual periods (8 or fewer per year), if they meet the eligibility criteria below. Women with menstrual periods every 27-35 days are also eligible to participate as healthy control subjects, if they meet the eligibility criteria below.

  • 18 – 40 years old
  • Are not using birth control pills, injections, patches, rings or hormone-releasing intrauterine devices (IUDs), unless PCOS has been previously diagnosed by hormonal testing.

Study Protocol
  • A short (about 30-minute) visit to Northwestern Memorial Hospital or to a local laboratory for blood testing.
  • Completing a brief medical history questionnaire.

  • The participants will be compensated $75 for completing the study.
  • All approved expenses will be paid for travel for blood sampling.
Contact Us

Women who are interested in learning more about the study should contact the PCOS Research Study Group by telephone, 1-800-847-6060, or email, or complete the contact form in the link below.

Contact Us!