Premature Ovarian Failure Clinical Trial
Official title:
X-Chromosome Inactivation Status and Premature Ovarian Failure
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.
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.
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Observational Model: Cohort, Time Perspective: Cross-Sectional
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