Premature ovarian insufficiency (POI) is a rare pathology affecting 1–2% of under-40 year-old women, 1 in 1000 under-30 year-olds and 1 in 10,000 under-20 year-olds. There are multiple etiologies, which can be classified as primary (chromosomal, genetic, auto-immune) and secondary or iatrogenic (surgical, or secondary to chemotherapy and/or radiotherapy). Despite important progress in genetics, more than 60% of cases of primary POI still have no identifiable etiology; these cases are known as idiopathic POI. POI is defined by the association of 1 clinical and 1 biological criterion: primary or secondary amenorrhea or spaniomenorrhea of > 4 months with onset before 40 year of age, and elevated follicle-stimulating hormone (FSH) > 25 IU/L on 2 assays at > 4 weeks’ interval. Estradiol level is low, and anti-Müllerian hormone (AMH) levels have usually collapsed. Initial etiological work-up comprises auto-immune assessment, karyotype, FMR1 premutation screening and gene-panel study. If all of these are normal, the patient and parents may be offered genome-wide analysis under the “France Génomique” project. The term ovarian insufficiency suggests that the dysfunction is not necessarily definitive. In some cases, ovarian function may fluctuate, and spontaneous pregnancy is possible in around 6% of cases. In confirmed POI, hormone replacement therapy is to be recommended at least up to the physiological menopause age of 51 years. Management in a rare diseases center may be proposed.

卵巢早衰 (POI) 是一种罕见的疾病，影响 1-2% 的 40 岁以下女性，每 1000 名 30 岁以下女性中就有 1 人，每 10,000 名 20 岁以下女性中就有 1 人患病。有多种病因，可分为原发性（染色体、遗传、自身免疫）和继发性或医源性（手术或继发于化疗和/或放疗）。尽管遗传学取得了重大进展，但超过 60% 的原发性 POI 病例仍然没有可识别的病因；这些病例被称为特发性 POI。POI 由 1 项临床和 1 项生物学标准的关联来定义：原发性或继发性闭经或闭经 >  4 个月，发病年龄在 40 岁之前，并且在 2 次检测中升高的促卵泡激素 (FSH)  >  25  IU/L  > 间隔 4 周。雌二醇水平低，抗苗勒管激素 (AMH) 水平通常已经下降。最初的病因学检查包括自身免疫评估、核型、FMR1前突变筛查和基因组研究。如果所有这些都正常，则可以在“法国基因组”项目下为患者和父母提供全基因组分析。卵巢功能不全这一术语表明功能障碍不一定是确定的。在某些情况下，卵巢功能可能会波动，大约 6% 的病例可能会自然怀孕。在确诊的 POI 中，建议至少在生理绝经年龄 51 岁之前进行激素替代治疗。可能会建议在罕见病中心进行管理。