Genetic Etiology in Premature Ovarian Insufficiency
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Genetic etiology in Premature ovarian Insufficiency
研究概览
简要总结
Premature Ovarian Insufficiency (POI), first described by Albright in 1942, is defined as an increase in Follicle Stimulating Hormone (FSH), an insufficiency of the ovarian function leading to an early menopause (<40 years of age).Today, only 35% of POI's etiology can be explained. Causes enlightening POI may be enumerated as follows, according to their frequency: genetic mutations, autoimmune defects and abnormalities detected on the X chromosome.The purpose of the study is to determine the frequency of the genetic abnormalities and polymorphisms described above in the POI Turkish population
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 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
- •Clinical diagnosed premature ovarian failure patients
- •20-40 years old female patients
排除标准
- •Surgical surgical menopause
- •Female patients who can't meet the age range criteria
结局指标
主要结局
Genetic etiology in Premature ovarian Insufficiency
时间窗: up to 1 year
In the framework of our project, abnormalities on the X chromosome will be studied by karyotyping, follicle-stimulating hormone receptor (FSHR),nuclear receptor subfamily 5,group A,member 1 (NR5A1),Newborn ovary homeobox gene (NOBOX),Bone morphogenetic protein 15 (BMP15) genes will be analyzed by sequencing and finally repeat size analysis for FMR1 gene will be performed fragment analyses, on 75 POI and 25 healthy control population.Collected data will enable us to determine the frequency of the abnormalities and polymorphisms described above in the POI Turkish population. Patients free of those genetic variants will help us to identify new loci or genes implicated in POI.
次要结局
未报告次要终点
研究者
BEGUM AYDOGAN
MD,OBGYN
Sisli Hamidiye Etfal Training and Research Hospital