期刊
ENDOCRINE REVIEWS
卷 37, 期 6, 页码 609-635出版社
ENDOCRINE SOC
DOI: 10.1210/er.2016-1047
关键词
-
资金
- Peter Doherty Early Career Fellowship [1054432]
- National Health and Medical Research Council [1074258]
- Australian National Health and Medical Research Council [1062854]
- Victorian Government's Operational Infrastructure Support Program
- National Health and Medical Research Council of Australia [1062854, 1074258] Funding Source: NHMRC
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据