Genetic Analysis of Familial Cases of Premature Ovarian Failure
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 110
- 试验地点
- 2
- 主要终点
- Identification of candidate regions by genotyping within families
研究概览
简要总结
The Premature ovarian failure (POF) is a rare syndrome observed in women under 40 who induced estrogen deficiency and often leads to infertility final. The etiologies of POF remain unknown in more than 85% of cases. There are 5-10 % of familial cases.The main objective of this study is to recruit, phenotype and genotype 20 families with at least two subjects with nonsyndromic POF in order to identify new loci using a single technical standard nucleotide polymorphisms (SNPs). This study will also include related population and population control.
详细描述
It was decided to move towards a study of familial cases of IOP. This study will identify areas of susceptibility in new families, identify candidate genes, sequence these genes in cases familial POF and sporadic cases in order to detect potential mutations, and in the control population.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Patients of familial cases of POF :
- •Female subjects between 16 and 40 years or women older than 40 years with a cessation of ovarian function before the age of 40 years with increased levels of FSH
- •Primary or secondary amenorrhea for more than three months with LH and FSH> 30mUI/ml
- •No cases of fragile X syndrome in the family or blepharophimosis syndrome
- •At least two cases in the family
- •Origin Caucasian
- •Patient signing the consent form for at least the blood sample
- •Patient with Social Security
- •Population Index related topics :
- •The presence of cycles until the age of 40 years with proven fertility, at least one child
- •Amenorrhea and FSH> 30mUI/ml according to the criteria of the index subject
- •Men of the family of index case
- •Population control :
- •Women of Caucasian origin
- •Women who had regular cycles until at least age 40 and at least one child
- •Lack of land autoimmune (no history of thyroid disease or diabetes type 1)
- •Woman signing the consent form for at least the blood sample
排除标准
- •Blood donation of more than 450ml in the previous three months.
- •Subject with an abnormal karyotype in favor of Turner syndrome or having a premutation of the FMR1 gene or a syndromic form
- •Subject exclusion period in another study without direct individual benefit
- •Subject refusing to sign the consent form
结局指标
主要结局
Identification of candidate regions by genotyping within families
时间窗: 1 day
次要结局
未报告次要终点