X-Chromosome Inactivation Status and Premature Ovarian Failure
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 13
- 试验地点
- 1
- 主要终点
- Skewed X-Inactivation appears increased in women with Premature Ovarian Failure
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 20 Years 至 40 Years（Adult）
- 性别
- Female
- 接受健康志愿者
- 是
入选标准
- •Women diagnosed with POF.
- •A chromosomal analysis must have been performed to evaluate X-chromosomal abnormalities, and the results are known to be normal.
排除标准
- •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.
结局指标
主要结局
Skewed X-Inactivation appears increased in women with Premature Ovarian Failure
时间窗: 4 years
次要结局
未报告次要终点