卵巢早衰 (POI) 是女性不孕和内分泌功能障碍的一个原因，其定义是在 40 岁之前丧失正常、可预测的卵巢活动。 POI 的临床特征是闭经（原发性或继发性），且循环卵泡刺激素水平升高。这种情况可能是由于卵巢手术或细胞毒性癌症治疗、代谢和溶酶体贮积病、感染、染色体异常和自身免疫性疾病等医疗干预造成的。至少百分之一的女性受到 POI 的影响，其中 30 岁之前的女性为千分之一。大量证据表明 POI 具有遗传基础。然而，大多数患者特发性 POI 的病因仍不清楚，这表明与这种情况相关的基因变异仍有待发现。过去 10 年来，我们对 POI 相关基因的了解取得了巨大进展。诊断中的遗传学方法非常重要，因为它们能够识别患有家族性 POI 的患者，并有机会保存卵母细胞。此外，遗传方法可以更好地了解疾病机制，这最终将有助于开发改进的治疗方法。© 2024。Springer Nature Limited。

Premature ovarian insufficiency (POI) is a cause of infertility and endocrine dysfunction in women, defined by loss of normal, predictable ovarian activity before the age of 40 years. POI is clinically characterized by amenorrhoea (primary or secondary) with raised circulating levels of follicle-stimulating hormone. This condition can occur due to medical interventions such as ovarian surgery or cytotoxic cancer therapy, metabolic and lysosomal storage diseases, infections, chromosomal anomalies and autoimmune diseases. At least 1 in 100 women is affected by POI, including 1 in 1,000 before the age of 30 years. Substantial evidence suggests a genetic basis to POI. However, the cause of idiopathic POI remains unknown in most patients, indicating that gene variants associated with this condition remain to be discovered. Over the past 10 years, tremendous progress has been made in our knowledge of genes involved in POI. Genetic approaches in diagnosis are important as they enable patients with familial POI to be identified, with the opportunity for oocyte preservation. Moreover, genetic approaches could provide a better understanding of disease mechanisms, which will ultimately aid the development of improved treatments.© 2024. Springer Nature Limited.