Premature ovarian insufficiency (POI) is a heterogeneous clinical syndrome defined by a premature loss of ovarian function that associates menstrual disturbances and hypergonatropic hypogonadism. POI is a major cause of female infertility affecting 1% of women before the age of 40 and up to 0.01% before the age of 20. The etiology of POI may be iatrogenic, auto-immune or genetic but remains however undetermined in a large majority of cases. An underlying genetic etiology has to be searched in idiopathic cases, particularly in the context of a family history of POI.

中文翻译：

---

NOBOX复合杂合无效突变在青春期延迟和原发性闭经的姐妹中

卵巢早衰 (POI) 是一种异质性临床综合征，其定义为卵巢功能过早丧失，与月经紊乱和促性腺功能减退症有关。POI 是女性不孕症的主要原因，在 40 岁之前影响 1% 的女性，在 20 岁之前影响高达 0.01%。的案例。必须在特发性病例中寻找潜在的遗传病因，特别是在 POI 家族史的背景下。