PCOS Twin Study - Environmental Factors in the Development of Polycystic Ovary Syndrome, Phase 2

This study has been completed.
Sponsor:
Information provided by:
National Institutes of Health Clinical Center (CC)
ClinicalTrials.gov Identifier:
NCT00444288
First received: March 6, 2007
Last updated: March 2, 2010
Last verified: March 2010
  Purpose

Polycystic Ovary Syndrome, or PCOS, is the most common endocrine disorder in women. Depending on the strictness of the diagnostic criteria used, it is thought to occur in about 6-10% of all women, many of whom do not know they have the syndrome. Women with PCOS produce abnormally high levels of male hormones (hyperandrogenism); this counteracts their ovaries' ability to make enough of the female hormones estrogen and progesterone needed for normal menstruation. PCOS is the number one cause of hormonally related infertility and also increases women's risks for diabetes, high blood pressure, hypercholesteremia, cardiovascular disease and certain cancers. It is currently unclear to what extent PCOS and PCOS-associated traits (hyperandrogenisms, hyperinsulinemia, insulin resistance, type 2 diabetes, dyslipidemia, hypertension, obesity, and coronary artery disease) are the results of environmental factors or genetic predisposition. Therefore, the NIEHS Program in Clinical Research is conducting a multi-phase twin study to measure the extent of PCOS heritability and to identify environmental and genetic factors involved in the development of PCOS. The proposal described here is for Phase 2 of this study. The goals of Phase 2 are to: 1) establish more reliable concordance rates and baseline heritability estimates for PCOS in MZ and DZ twins; and 2) establish a cohort of intact MZ and DZ female twin pairs as a resource for future studies.

In Phase 1, about 1500 individual female twins were identified from the Mid-Atlantic Twin Registry (MATR) based on self report of a history of irregular periods and/or cystic ovaries in the MATR General Health Screening Questionnaire. Those twins were surveyed by phone for other traits associated with PCOS. In Phase 2, the twins most likely to have PCOS based on their answers to the Phase 1 phone survey will be recontacted for further PCOS screening. This includes providing a blood sample for measuring bioavailable testosterone (BaT) levels. Women with elevated BaT levels are likely to have PCOS. The women with elevated levels will then be asked to undergo a medical evaluation for PCOS confirmation. This includes a physical exam, medical history, ultrasound, 2-hour glucose tolerance and other biochemical blood tests, and a Ferriman-Gallwey evaluation for abnormal hirsutism (another characteristic of PCOS). The women will also be tested for pregnancy and zygosity. Their female co-twins will be invited to undergo...


Condition
Polycystic Ovary Syndrome

Study Type: Observational
Official Title: PCOS Twin Study - Environmental Factors in the Development of Polycystic Ovary Syndrome, Phase 2

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Study Start Date: February 2007
Estimated Study Completion Date: March 2010
Detailed Description:

Polycystic Ovary Syndrome, or PCOS, is the most common endocrine disorder in women. Depending on the strictness of the diagnostic criteria used, it is thought to occur in about 6-10% of all women, many of whom do not know they have the syndrome. Women with PCOS produce abnormally high levels of male hormones (hyperandrogenism); this counteracts their ovaries' ability to make enough of the female hormones estrogen and progesterone needed for normal menstruation. PCOS is the number one cause of hormonally related infertility and also increases women's risks for diabetes, high blood pressure, hypercholesteremia, cardiovascular disease and certain cancers. It is currently unclear to what extent PCOS and PCOS-associated traits (hyperandrogenism, hyperinsulinemia, insulin resistance, type 2 diabetes, dyslipidemia, hypertension, obesity, and coronary artery disease) are the results of environmental factors or genetic predisposition. Therefore, the NIEHS Program in Clinical Research is conducting a multi-phase twin study to measure the extent of PCOS heritability and to identify environmental and genetic factors involved in the development of PCOS. The proposal described here is for Phase 2 of this study. The goals of Phase 2 are to: 1) establish more reliable concordance rates and baseline heritability estimates for PCOS in MZ and DZ twins; and 2) establish a cohort of intact MZ and DZ female twin pairs with PCOS as a resource for future studies.

In Phase 1, about 1500 individual female twins were identified from the Mid-Atlantic Twin Registry (MATR) based on self report of a history of irregular periods and/or cystic ovaries in the MATR General Health Screening Questionnaire. Those twins were surveyed by phone for other traits associated with PCOS. In Phase 2, the twins most likely to have PCOS based on their answers to the Phase 1 phone survey will be recontacted for further PCOS screening. One or both twins in a pair will be screened for elevated levels of testosterone (total and free testosterone, bioavailable testosterone or BaT; free androgen index or FAI). Hyperandrogenism is one of the hallmark traits of PCOS and can be exhibited either biochemically (elevated testosterone) or clinically (hirsutism, acne, hair loss, alopecia, other). If one twin in a pair has an elevated BaT level, then both twins in the pair will be asked to undergo a medical evaluation for PCOS confirmation. This includes a physical exam, medical history, ultrasound, 2-hour glucose tolerance and other biochemical blood tests, and a Ferriman-Gallwey evaluation for abnormal hirsutism (another characteristic of PCOS). The women will also be tested for pregnancy and zygosity. Their female co-twins will be invited to undergo a similar medical evaluation.

Depending on their PCOS traits, twin pairs in which neither member has elevated testosterone levels might be asked to undergo the medical evaluation as well. In clinical practice, PCOS diagnoses are often made on women with normal testosterone levels if they have other certain PCOS traits. The determination to include pairs in which both members have normal testosterone levels will be made depending on their collective PCOS traits that they reported on their Phase 1 survey.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Female
Accepts Healthy Volunteers:   No
Criteria
  • INCLUSION CRITERIA:

To be included in this study, primary twins must:

  1. Be a premenopausal female twin over the age 18 (this will be asked during recruitment).
  2. Have a living female co-twin (this will be asked during recruitment).
  3. Have a history of probable PCOS defined by having one or more of the following criteria as self-reported in the Phase 1 PCOS survey. These traits will be confirmed during medical evaluation:

    1. History of chronically irregular menstrual cycles
    2. History of hirsutism
    3. History of hair loss
    4. Cysts in ovaries
    5. Body-mass index greater than 25
    6. Acne
  4. Be able and willing to give informed consent.
  5. Agree to undergo a medical evaluation for PCOS.

To be included in this study, co-twins must:

  1. Be a premenopausal female twin over the age of 18 (this will be asked during recruitment).
  2. Be able and willing to give informed consent.
  3. Agree to undergo a medical evaluation for PCOS.

EXCLUSION CRITERIA:

Women will be excluded from the study if they are pregnant or have given birth within the past six months.

Women will also be excluded if they are currently menopausal or past menopause.

Women with any condition that, in the opinion of the investigators, could affect the validity of the study results will be excluded from participating.

Subjects will not be excluded based on race, ethnicity or religion.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00444288

Locations
United States, North Carolina
Duke University Medical Center
Durham, North Carolina, United States, 27710
Sponsors and Collaborators
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00444288     History of Changes
Other Study ID Numbers: 999907112, 07-E-N112
Study First Received: March 6, 2007
Last Updated: March 2, 2010
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Cystic Ovaries
Hyperandrogenism
Anovulation
Concordance Rates
Baseline Heritability
Polycystic Ovary Syndrome
POS

Additional relevant MeSH terms:
Polycystic Ovary Syndrome
Ovarian Cysts
Cysts
Neoplasms
Ovarian Diseases
Adnexal Diseases
Genital Diseases, Female
Gonadal Disorders
Endocrine System Diseases

ClinicalTrials.gov processed this record on August 26, 2014