X-Chromosome Inactivation Status and Premature Ovarian Failure
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Premature Ovarian Failure
- Sponsor
- University of Pittsburgh
- Enrollment
- 13
- Locations
- 1
- Primary Endpoint
- Skewed X-Inactivation appears increased in women with Premature Ovarian Failure
- Status
- Completed
- Last Updated
- 11 years ago
Overview
Brief Summary
Women who are affected with premature ovarian failure will exhibit skewed X-chromosome inactivation patterns compared to women with normal menstrual function (as defined by being pregnant), indicating a possible X-chromosome defect.
Detailed Description
Premature ovarian failure (POF) affects approximately 1% of women. For most women a cause is not found, but structural abnormalities of the X-chromosome commonly lead to POF, suggesting genes on the X-chromosome are necessary for normal ovarian function. It is known that certain gene mutations on the X-chromosome can lead to changes in the normal random pattern of X-chromosome inactivation in females. We propose to study X-inactivation patterns in a cohort of women with idiopathic POF, and compare their pattern to a mean age-matched cohort of women with normal menstrual function. We hypothesize that some women with POF will show skewed X-inactivation, suggesting a mutation on the X-chromosome as the etiology of their POF.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Women diagnosed with POF.
- •A chromosomal analysis must have been performed to evaluate X-chromosomal abnormalities, and the results are known to be normal.
Exclusion Criteria
- •Patients who have a known etiology for their POF and/or an inability to obtain karyotype results for these patients or unknown X-chromosome abnormalities.
Outcomes
Primary Outcomes
Skewed X-Inactivation appears increased in women with Premature Ovarian Failure
Time Frame: 4 years