Polycystic Ovary Syndrome

Polycystic Ovary Syndrome

National Organization for Rare Disorders, Inc.


It is possible that the main title of the report Polycystic Ovary Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Bilateral Polycystic Ovarian Syndrome
  • Ovarian Hyperthecosis
  • Ovarian Syndrome
  • PCOS
  • Polycystic Bilateral Ovarian Syndrome
  • POS
  • Sclerocystic Ovarian Disease
  • Stein-Leventhal Syndrome
  • anovulation with hyperandrogenism

Disorder Subdivisions

  • None

General Discussion

Polycystic ovary syndrome (PCOS) affects women and is a complex of symptoms that are not necessarily all present in all cases. Some, but not all, affected women have multiple cysts on the ovaries (polycystic ovaries). Other characteristics include the absence of menstruation (amenorrhea) or irregular menstruation, failure of the ovary to release eggs (anovulation), elevated levels of the male hormones known as androgens (hyperandrogenism), excessive amounts of body hair (hirsutism), a high rate of miscarriage, and infertility. Three criteria often used for a diagnosis are menstrual irregularity, hyperandrogenism, and exclusion of other disease. There is some evidence that PCOS is an inherited condition.


Signs and symptoms of PCOS may include absent or irregular menstruation, excessive hair on the face and/or body (hirsutism), acne, male pattern balding, increased muscle mass, deepening of the voice, the absence of ovulation, obesity, and glucose intolerance.

Women with PCOS may have a higher risk than the general public does for the development of diabetes mellitus, high blood pressure (hypertension), coronary artery disease, intravascular thrombosis, and endometrial cancer.


The cause of polycystic ovary syndrome is still unknown, but there is some evidence that it is an inherited condition. The incidence rates in mothers and sisters of women with PCOS are 24 percent and 32 percent, respectively.

Some studies have suggested that the syndrome is inherited as an autosomal dominant genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.

Other studies have suggested that some women may have a genetic predisposition to PCOS. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease.

Affected Populations

It is estimated that between 6 and 10 percent of all women of reproductive age have PCOS. It is also believed that many women have PCOS without realizing it.

Standard Therapies


The diagnosis depends on a combination of clinical, hormonal, and ultrasonographic findings.


Treatment is aimed at inducing ovulation in infertile women and addressing specific symptoms that may be present in each situation. Diet and weight loss are important for the overweight patient.

Diet and weight loss for the obese patient is critical.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.

For information about clinical trials being conducted at the National Institutes of Health (NIH) Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:


The Massachusetts General Hospital is one site of a clinical trial on treatments for PCOS. The leaders of the trial are recruiting lean or obese women, between 18 and 40 years of age, with fewer than nine (9) menstrual periods per year and who are not taking medication presently.

For further information, contact:

Yarisie Jimenez BS

Massachusetts General Hospital

Fruit Street

Reproductive Endocrine

Boston, MA 02115

Telephone: 617-726-5526

Email: yjimenez@partners.org



Jones III, HJ, et al., eds. Novak's Textbook of Gynecology. 11th ed. Baltimore, MD: Williams & Wilkins; 1988:104, 390-91, 359.

Berkow R., ed. The Merck Manual-Home Edition. Whitehouse Station, NJ: Merck Research Laboratories; 1997:1091-92.

Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:106, 1935-38.


Pfeifer SM, Dayal M. Treatment of the adolescent patient with polycystic ovary syndrome. Obstet Gynecol Clin North Amer. 2003;30:337-52.

Harborne L, Fleming R, Lyall H, et al. Descriptive review of the evidence fopr the use of metformin in polycystic ovary syndrome. Lancet 2003;361:1894-901.

Ben-Shlomo I. The polycystic ovary syndrome: what does insulin resistance have to do with it? Reprod Biomed Online. 2003;6:36-42.

Haas DA, Carr BR, Attia GR. Effects of metformin on body mass index, menstrual cyclicity, and ovulation induction in women with polycystic ovary syndrome. Fertil Steril. 2003;79:469-81.

Marx TL, Mehta AE. Polycystic ovary syndrome: pathogenesis and treatment over the short and long term. Cleve Clin J Med. 2003;70:31-33, 36-41, 45.

McCartney CR, Eagleson CA, Marshall JC. Regulation of gonadotropin secretion: implications for polycystic ovary syndrome. Semin Reprod Med. 2002;20:31726.

Simpson JL. Molecular approach to common causes of female infertility. Best Pract Res Clin Obstet Gynaecol. 2002;16:685-702.

Dawber RP. Hirsuties. J Gend Specif Med. 2002;5:34-42.

Samraj GP, Kuritzky L. Polycystic ovary syndrome [PCOS]: comprehensive management in primary care. Compr Ther. 2002;28:208-21.

Pritts EA. Treatment of the infertile patient with polycystic ovarian syndrome. Obstet Gynecol Surv. 2002;57:587-97.

Legros RS, Patton PE. Molecular progress in infertility: polycystic ovary syndrome. Fertil Steril. 2002;78:569-76.

Norman RJ, Davies MJ, Lord J, et al. The role of lifestyle modification in polycystic ovary syndrome. Trends Endocrinol Metab. 2002;13:251-57.

Gambineri A, Pelusi C, Vicennati V, et al. Obesity and the polycystic ovary syndrome. Int J Obes Relat Metab Disord. 2002;26:883-96.

Tan WC, Yap C, Tan AS. Clinical management of PCOS. Acta Obstet Gynecol Scand. 2001;80:689-96.

Duncan S. Polycystic ovarian syndrome in women with epilepsy: a review. Epilepsia. 2001;42 suppl 3:60-5.

Mercurio MG. Hirsutism: diagnosis and management. J Gend Specif Med. 2001;4:29-34, 64.

Legro RS. Diabetes prevalence and risk factors in polycystic ovary syndrome. Obstet Gynecol Clin North Am. 2001;28:99-109.

Phipps WR. Polycystic ovary syndrome and ovulation induction. Obstet Gynecol Clin North Am. 2001;28:165-82.

Zborowski JV, Talbott EO, Cauley JA. Cardiovascular risk in women with polycystic ovary syndrome. Obstet Gynecol Clin North Am. 2001;28:111-33, vii.

Lewis V. Polycystic ovary syndrome. A diagnostic challenge. Obstet Gynecol Clin North Am. 2001;28:1-20.


McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Polycystic Ovary Syndrome 1; PCOS1. Entry No: 184700; Last Update: 6/16/2003.

Coping with Polycystic Ovary Syndrome. The Nemours Foundation. 2003. 8pp. (4 Chapt)


Polycystic Ovarian Syndrome Association.



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For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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