Department of Endocrinology and Reproductive Medicine, AP-HP Pitié Salpêtrière Hospital, Sorbonne Université Médecine, Paris, France.
Inserm U1151 INEM, Necker Hospital, Paris, France.
Nat Rev Dis Primers. 2024 Sep 12;10(1):63. doi: 10.1038/s41572-024-00547-5.
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.
卵巢早衰（POI）是导致女性不孕和内分泌功能障碍的原因，其定义为 40 岁之前正常、可预测的卵巢功能丧失。POI 的临床特征是闭经（原发性或继发性）伴循环中卵泡刺激素水平升高。这种情况可能由于卵巢手术或细胞毒性癌症治疗、代谢和溶酶体储存疾病、感染、染色体异常和自身免疫性疾病等医疗干预而发生。至少有 1/100 的女性受到 POI 的影响，包括 1/1000 的女性在 30 岁之前受到影响。大量证据表明 POI 具有遗传基础。然而，大多数患者的特发性 POI 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。在过去的 10 年中，我们对参与 POI 的基因的认识取得了巨大进展。诊断中的遗传方法很重要，因为它们使具有家族性 POI 的患者能够被识别出来，并有机会进行卵母细胞保存。此外，遗传方法可以提供对疾病机制的更好理解，这最终将有助于开发改进的治疗方法。
