Philippe Touraine, Nathalie Chabbert-Buffet, Genevieve Plu-Bureau, Lise Duranteau, Andrew H. Sinclair, Elena J. Tucker
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引用次数: 0
摘要
早发性卵巢功能不全(POI)是导致女性不孕和内分泌功能障碍的原因之一,其定义是女性在 40 岁之前失去正常的、可预测的卵巢活动。早发性卵巢功能不全的临床特征是闭经(原发性或继发性),循环中的卵泡刺激素水平升高。发生这种情况的原因可能是卵巢手术或细胞毒性癌症治疗等医疗干预措施、代谢和溶酶体贮积疾病、感染、染色体异常和自身免疫性疾病。每 100 名妇女中至少有 1 人患有卵巢炎,其中 1,000 人在 30 岁之前就患有卵巢炎。大量证据表明 POI 与遗传有关。然而,大多数特发性 POI 患者的病因仍然不明,这表明与这种疾病相关的基因变异仍有待发现。过去 10 年中,我们对 POI 相关基因的了解取得了巨大进步。基因诊断方法非常重要,因为它能识别家族性 POI 患者,并为卵母细胞的保存提供机会。此外,基因方法还能让人们更好地了解疾病机制,最终有助于开发出更好的治疗方法。
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.
期刊介绍:
Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.