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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.
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.
Symptoms of the following disorders can be similar to those of Stein- Leventhal Syndrome. Comparisons may be useful for a differential diagnosis:
Primary Amenorrhea is a gynecological disorder characterized by the lack of any menstrual flow (menses) in a female age 18 or older. The sole symptom of this disorder is the absence of the first menstruation and any regular monthly cycle of menstruation. Other features may include the lack of secondary female sex characteristics (i.e., the development of pubic hair), and the incomplete or underdevelopment of the sexual organs and breasts. (For more information on this disorder, choose "Primary Amenorrhea" as your search term in the Rare Disease Database.)
Mullerian Aplasia is a rare disorder characterized by the absence at birth of the vagina in a female with normal ovarian function and normal external genitals. Women with this disorder develop normal secondary sexual characteristics (i.e., breast development and pubic hair). The uterus, cervix, and upper portion of the vagina are typically missing in women with Mullerian Aplasia. The initial symptom of this disorder is usually the absence of menstruation.
Ahumada-del Castillo Syndrome is a rare endocrine disorder characterized by the abnormal function of the hypothalamus and pituitary glands affecting the secretion of hormones. This disorder affects only women and is not related to pregnancy. The two major symptoms of this disorder include the production and expression of milk from the breasts not associated with childbirth or nursing, and the lack of regular menstruation. There is normal development of secondary sexual characteristics. (For more information on this disorder, choose "Ahumada-del Castillo" as your search term in the Rare Disease Database.)
Forbes-Albright Syndrome is one of a group of rare endocrine disorders characterized by abnormally high levels of the hormone prolactin, secreted by the pituitary gland. Symptoms include the production and secretion of milk from the breasts (lactation) without associated childbirth or nursing (galactorrhea), and the absence of a regular menstrual period (amenorrhea). Women with Forbes-Albright Syndrome generally have breasts and nipples of normal size and appearance, but the pattern of body hair and sexual drive may be decreased. Other symptoms may include extremely oily skin and obesity. (For more information on this disorder, choose "Forbes-Albright" as your search term in the Rare Disease Database.)
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.
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
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
Boston, MA 02115
PO Box 66
Hauraki, 3641 New Zealand
Phone #: 643-358-4507
800 #: 080-022-4698
Home page: http://www.cah.org.nz/
PO Box 8126
Gaithersburg, MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
Home page: http://rarediseases.info.nih.gov/GARD/
8401 Connecticut Avenue
Chevy Chase, MD 20815-5817
Phone #: --
800 #: 800-467-6663
Home page: http://www.hormone.org/
1413 K Street, NW
Washington, DC 20005 USA
Phone #: 202-682-2640
800 #: --
Home page: http://www.womenshealthnetwork.org
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Phone #: N/A
800 #: 800-370-2943
Home page: http://www.nichd.nih.gov/
Phone #: --
800 #: --
Home page: http://www.obgyn.net
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FROM THE INTERNET
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.
Report last updated: 2008/04/15 00:00:00 GMT+0