Polycystic Ovary Syndrome Genetics and Treatment Response
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Ovarian Cancer, Women's Studies |
| Therapuetic Areas: | Oncology, Reproductive |
| Healthy: | No |
| Age Range: | 18 - 40 |
| Updated: | 8/18/2018 |
| Start Date: | June 2011 |
| End Date: | October 2019 |
Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in reproductive age
women. Women with PCOS have a high risk of prediabetes, type 2 diabetes and heart disease.
The investigators have found a possible change in the DNA (genes of the body that encode all
of our traits) that seems to be related to insulin resistance. In this study, the
investigators will try to determine whether the change in the gene affects a woman's ability
to respond to a common treatment for PCOS, metformin.
These studies will uncover the change in a gene that might be one of the causes of PCOS.
Discovering this gene will help better understand the diabetes and insulin abnormalities that
are common in PCOS and will help us to better diagnose and treat PCOS to prevent the diabetes
in these women.
women. Women with PCOS have a high risk of prediabetes, type 2 diabetes and heart disease.
The investigators have found a possible change in the DNA (genes of the body that encode all
of our traits) that seems to be related to insulin resistance. In this study, the
investigators will try to determine whether the change in the gene affects a woman's ability
to respond to a common treatment for PCOS, metformin.
These studies will uncover the change in a gene that might be one of the causes of PCOS.
Discovering this gene will help better understand the diabetes and insulin abnormalities that
are common in PCOS and will help us to better diagnose and treat PCOS to prevent the diabetes
in these women.
Polycystic ovary syndrome (PCOS), which affects 7-10% of reproductive aged women, has
traditionally been classified as a reproductive and dermatologic syndrome because of its high
rate of infertility and the cosmetic complications of hyperandrogenism. However, it has
become increasingly clear that insulin resistance is important in the pathogenesis of the
disorder.
There are a number of variants that have been determined to be associated with PCOS risk. The
investigators will determine the effect of these variants on the phenotype and response to
treatment in PCOS. Subjects with PCOS will undergo extensive phenotyping including adipose
tissue biopsy, dual energy X-ray absorptiometry (DXA, bone density) scan to examine adipose
stores, an intravenous glucose tolerance test to study insulin sensitivity and beta cell
function, androgen stimulation and inflammatory markers. The phenotyping will be repeated
after 3 months of treatment with metformin. The studies will determine whether the genotype
at PCOS risk variants dictates phenotype and response to treatment with metformin.
Discovering genes involved in the etiology of PCOS will help pull us out of the endless
circle that has characterized our understanding of PCOS pathophysiology for many years. The
proposal also has the potential to illuminate one etiology of insulin resistance, which is
present even in lean women with PCOS, and the impaired glucose tolerance and diabetes found
in over 40% of PCOS patients.
traditionally been classified as a reproductive and dermatologic syndrome because of its high
rate of infertility and the cosmetic complications of hyperandrogenism. However, it has
become increasingly clear that insulin resistance is important in the pathogenesis of the
disorder.
There are a number of variants that have been determined to be associated with PCOS risk. The
investigators will determine the effect of these variants on the phenotype and response to
treatment in PCOS. Subjects with PCOS will undergo extensive phenotyping including adipose
tissue biopsy, dual energy X-ray absorptiometry (DXA, bone density) scan to examine adipose
stores, an intravenous glucose tolerance test to study insulin sensitivity and beta cell
function, androgen stimulation and inflammatory markers. The phenotyping will be repeated
after 3 months of treatment with metformin. The studies will determine whether the genotype
at PCOS risk variants dictates phenotype and response to treatment with metformin.
Discovering genes involved in the etiology of PCOS will help pull us out of the endless
circle that has characterized our understanding of PCOS pathophysiology for many years. The
proposal also has the potential to illuminate one etiology of insulin resistance, which is
present even in lean women with PCOS, and the impaired glucose tolerance and diabetes found
in over 40% of PCOS patients.
Inclusion Criteria:
- Polycystic ovary syndrome
- No medications for 1 month
- Good general health
Exclusion Criteria:
- Smoker
- Acute infection or chronic disease
- Diabetes
- Trying to get pregnant
- Bleeding disorders
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