NCT00295087

X-Chromosome Inactivation Status and Premature Ovarian Failure

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 13 (actual)
• Sponsor: University of Pittsburgh · Academic / Other
• Sex: Female
• Age: 20 Years – 40 Years
• Healthy volunteers: Accepted

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.

Conditions

• Premature Ovarian Failure

Timeline

• Start date: 2005-11-01
• Primary completion: 2009-10-01
• Completion: 2009-10-01
• First posted: 2006-02-22
• Last updated: 2014-12-08

Locations

1 site across 1 country: United States