Primary Ovarian Insufficiency
Primary Ovarian Insufficiency
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DOI：
10.1055/s-0036-1585402
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发表时间：
2016-07-01
影响因子：
2.7
通讯作者：
Laven, Joop S. E.
中科院分区：
文献类型：
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作者：
Laven, Joop S. E.
原发性卵巢功能不全(POI)，也称为卵巢早衰或早绝经期，定义为在预期绝经年龄之前月经停止。POI的潜在病因可分为遗传性、自身免疫性和医源性。这篇综述将试图总结POI的遗传学基础，重点是利用较新的遗传学技术，如全基因组关联研究、全外显子组测序(WES)或下一代测序技术所获得的最新数据。通过使用这些技术，已经出现了许多在POI的病理生理学中发挥作用的基因。其中一些已经在其他研究中被复制；然而，大多数还没有通过功能验证研究被证明是明确的原因。阐明卵巢早衰的遗传学和分子基础，不仅对了解卵巢生理学，而且对提供遗传咨询和生育指导具有重要意义。一旦检测到更多的变异，就有可能预测有POI风险的妇女的(过早)绝经年龄。对POI有某些扰动的妇女可以选择卵母细胞冷冻保存，稍后解冻，并在适当的年龄使用辅助生殖技术。
Primary ovarian insufficiency (POI), also known as premature ovarian failure or premature menopause, is defined as cessation of menstruation before the expected age of menopause. Potential etiologies for POI can be divided into genetic, autoimmune, and iatrogenic categories. This review will try to summarize the genetic basis of POI focusing on recent data that are available using newer genetic techniques such as genome-wide association studies, whole-exome sequencing (WES), or next-generation sequencing techniques. By using these techniques, many genes have arisen that play some role in the pathophysiology of POI. Some of them have been replicated in other studies; however, the majority has not been proven yet to be unequivocally causative through functional validation studies. Elucidating the genetic and molecular basis of POI is of paramount importance not only in understanding ovarian physiology but also in providing genetic counseling and fertility guidance. Once additional variants are detected, it might become possible to predict the age of (premature) menopause in women at risk for POI. Women having certain perturbations of POI can be offered the option of oocyte cryopreservation, with later thawing and use in assisted reproductive technology at an appropriate age.