X-Chromosome Inactivation Status and Premature Ovarian Failure
- Conditions
- Premature Ovarian Failure
- Registration Number
- NCT00295087
- Lead Sponsor
- University of Pittsburgh
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- Female
- Target Recruitment
- 13
- Women diagnosed with POF.
- A chromosomal analysis must have been performed to evaluate X-chromosomal abnormalities, and the results are known to be normal.
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Skewed X-Inactivation appears increased in women with Premature Ovarian Failure 4 years
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Magee-Womens Hospital
🇺🇸Pittsburgh, Pennsylvania, United States