Abstract: Premature ovarian insufficiency refers to ovarian impairment before the age of 40 in women.The clinical manifestations are diverse，including menstrual disturbance，estrogen deficiency symptom，infertility and so on.With the rapid development of next generation sequencing technology such as whole exon sequencing and genome sequencing，the genetic etiology of POI has been studied more and more deeply.The article analyzed the genetic etiology of POI and its molecular mechanism，aiming to provide new ideas for the risk prediction of POI in the clinical practice.

Key words: premature ovarian insufficiency, genetics, etiology

摘要： 早发性卵巢功能不全（premature ovarian insufficiency，POI）指女性在40岁之前出现卵巢功能减退，其临床表现包括月经改变、低雌激素症状、不孕等。随着全外显子测序技术、全基因组测序等测序技术的不断发展，人们对POI的遗传学研究愈加深入。文章对POI的遗传学病因及其分子机制作一分析，以期为POI的风险预测提供新思路。

关键词: 早发性卵巢功能不全, 遗传学, 病因