The Molecular Basis of Inherited Reproductive Disorders
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 854
- 试验地点
- 1
- 主要终点
- Genetic variation
研究概览
简要总结
The goal of this study is to learn more about the genes that control puberty and reproduction in humans.
详细描述
All study subjects will undergo the same activities. Subjects will provide up to five tubes of blood for genetic analysis, complete a smell test, and answer questions about their health and family history.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Year 至 —(Child, Adult, Older Adult)
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Participants must be healthy controls or belong to one of the following categories:
- •Failure to go through a normal, age-appropriate, spontaneous puberty and low sex steroid levels in the setting of low/normal gonadotropins or,
- •Abnormally early development of puberty or,
- •Normal puberty with subsequent development of low gonadotropin levels or,
- •Evidence of a reproductive disorder with high gonadotropin levels or,
- •Pre-pubertal individuals with features suggestive of hypogonadotropic hypogonadism or,
- •Affected and unaffected family members of individuals that fit criteria above
排除标准
- 未提供
研究组 & 干预措施
Subjects with Reproductive Disorders or Healthy controls
Healthy controls or individuals with reproductive disorders and their affected and unaffected family members
结局指标
主要结局
Genetic variation
时间窗: Day 1
Identification of one or more genetic variations related to reproductive disorders
次要结局
未报告次要终点
研究者
Stephanie B. Seminara, MD
Chief, Reproductive Endocrine Unit; Professor of Medicine, Harvard Medical School; Director, MGH Harvard Center for Reproductive Medicine
Massachusetts General Hospital
