卵巢早衰
卵巢早衰
不育
疾病
遗传咨询
表型
闭经
生物
生物信息学
鉴定(生物学)
医学
遗传学
基因
内科学
怀孕
内分泌学
植物
作者
Elena J. Tucker,Sonia Grover,Anne Bachelot,Philippe Touraine,Andrew H. Sinclair
出处
期刊:Endocrine Reviews
[The Endocrine Society]
日期:2016-10-03
卷期号:37 (6): 609-635
被引量:165
摘要
Abstract Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40 and characterized by amenorrhea (primary or secondary) with raised gonadotropins and low estradiol. POI affects up to one in 100 females, including one in 1000 before the age of 30. Substantial evidence suggests a genetic basis for POI; however, the majority of cases remain unexplained, indicating that genes likely to be associated with this condition are yet to be discovered. This review discusses the current knowledge of the genetic basis of POI. We highlight genes typically known to cause syndromic POI that can be responsible for isolated POI. The role of mouse models in understanding POI pathogenesis is discussed, and a thorough list of candidate POI genes is provided. Identifying a genetic basis for POI has multiple advantages, such as enabling the identification of presymptomatic family members who can be offered counseling and cryopreservation of eggs before depletion, enabling personalized treatment based on the cause of an individual's condition, and providing better understanding of disease mechanisms that ultimately aid the development of improved treatments.
科研通智能强力驱动
Strongly Powered by AbleSci AI