Premature Ovarian Failure
Conditions
Keywords
Premature Ovarian Failure, X-Chromosome Inactivation
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.
Interventions
None listed
Sponsors
University of Pittsburgh
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
FEMALE
Age
20 Years to 40 Years
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Skewed X-Inactivation appears increased in women with Premature Ovarian Failure | 4 years |
Countries
United States
Outcome results
None listed