期刊
JOURNAL OF THE ENDOCRINE SOCIETY
卷 4, 期 2, 页码 -出版社
ENDOCRINE SOC
DOI: 10.1210/jendso/bvz037
关键词
primary ovarian insufficiency; premature ovarian insufficiency; ovary; genetics; infertility; next-generation sequencing; NGS
资金
- Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) [2014/14231-0, 2013/02162-8]
- Nucleo de Estudos e Terapia Celular e Molecular (NETCEM)
- Conselho Nacional de Desenvolvimento Cientifico e Tecnologico Grant [303002/2016-6]
Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age of 40 years. Elucidating the cause of POI is a key point for diagnosing and treating affected women. Here, we review the genetic etiology of POI, highlighting new genes identified in the last few years using next-generation sequencing (NGS) approaches. We searched the MEDLINE/PubMed, Cochrane, and Web of Science databases for articles published in or translated to English. Several genes were found to be associated with POI genetic etiology in humans and animal models (SPIDR, BMPR2, MSH4, MSH5, GJA4, FANCM, POLR2C, MRPS22, KHDRBS1, BNC1, WDR62, ATG7/ATG9, BRCA2, NOTCH2, POLR3H, and TP63). The heterogeneity of POI etiology has been revealed to be remarkable in the NGS era, and discoveries have indicated that meiosis and DNA repair play key roles in POI development. (C) Endocrine Society 2019.
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