Trial Information

Environmental Factors in the Development of Polycystic Ovary Syndrome

Polycystic Ovary Syndrome (PCOS) is manifested as a heterogeneous mixture of clinical and
bichemical characteristics that complicate study of its etiology. It is currently unclear
to what extent PCOS-associated traits (hyperandrogenism, hyperinsulinemia, insulin
resistance, type 2 diabetes, dyslipidemia, hypertension, obesity, and coronary artery
disease) are the result of environmental factors or genetic predisposition. We propose to
conduct a twin study to investigate the possibility that environmental factors are important
in the development of the PCOS phenotype. Twin studies are considered to be the gold
standard for determining the extent of heritability of a trait. The proposal described here
is only for Step 1 of a larger, multi-step study. The major goal of step 1 is to identify a
large cohort of twin pairs, in which at least one member of each pair is likely to have
PCOS.

Participants for this study will come from the Mid-Atlantic Twin Registry (MATR). Many
(3283) potential participants have already been identified based on their answers to a
preliminary MATR screening questionnaire. Out of the approximately 7145 twin women of
reproductive age who completed these MATR screening questionnaires, 1803 women reported
irregular periods, 954 reported ovarian cysts, and 526 reported both irregular periods and
ovarian cysts. Many of the women in this last group are likely to have PCOS. They
represent 7.4% of the total sample, matching current estimates of PCOS prevalence (4-7%) in
reproductive age women. We will also add new twin pairs who meet the criteria (irregular
periods and evidence of PCOS or cystic ovaries) as they are recruited into the MATR and take
the preliminary surveys. According to MATR statistics, about 33% of twin pairs are
monozygotic (MZ, identical). Therefore, approximately 174 of the 526 women likely to have
PCOS are members of a MZ pair.

Step 1 of the proposed study consists of a telephone survey of the 3282 women with irregular
periods and/or ovarian cysts. The survey will be conducted by the MATR. The instrument to
be used contains a series of simple and direct questions and will take about 10 minutes to
complete. The questions were designed to identify PCOS and their content deals with the
frequency of menstrual periods (six or fewer per year being a major diagnostic criterion), a
previous diagnosis of PCOS, obesity, excess facial hair and other evidence of
hyperandrogenism. The women will also be asked if they have a living twin sister. On the
basis of this survey, women will be identified who are likely to have PCOS and have a living
female twin.