早发性卵巢功能不全诊断及遗传学进展

早发性卵巢功能不全（POI）是指女性在40岁之前出现卵巢功能衰退（不全），发病率约为1%。POI患者过早的雌激素缺乏严重影响其生存质量，也是导致女性不孕的重要原因之一。随着对POI的进一步认识，其诊断标准也发生一些改变。POI病因复杂，包括遗传、自身免疫、医源性因素、感染、环境因素等。文章对POI最新诊断标准及其遗传学病因的进展进行阐述。

Diagnosis and genetic analysis of premature ovarian insufficiency

Premature ovarian insufficiency （POI） refers to ovarian impairment/failure before the age of 40 years in women.The prevalence of POI is reported about 1%.The quality of life of POI patients is affected and POI women are partly responsible for the infertility in reproductive field.As the understanding in POI is deepened，the diagnosis criteria of POI have been changed recently.The etiology of POI is complicated，which includes the genetic factor，autoimmune and metabolic factors，iatrogenic and so forth.Here the progress of diagnosis criterion and the genetic analysis of POI are addressed.