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早发性卵巢功能不全的病因研究进展
Etiology of premature ovarian insufficiency: a research progress

广西医学 页码:345-350

作者机构:薛雪,硕士,主治医师,研究方向为妇科内分泌疾病。

DOI:10.11675/j.issn.0253⁃4304.2025.03.03

  • 中文简介
  • 英文简介
  • 参考文献

早发性卵巢功能不全(POI)的病因复杂,涉及遗传因素、自身免疫性因素、医源性因素、环境因素及不良生活方式等。遗传因素中,染色体异常和单基因突变是主要的致病原因;自身免疫性因素在POI的发病中占有重要地位,常见疾病包括自身免疫性甲状腺疾病、自身免疫性肾上腺疾病等;医源性因素主要是化疗、放疗或手术引起的卵巢损伤;环境因素(环境内分泌干扰物等)和不良生活方式(吸烟等)也与POI的发生密切相关。特发性POI则指无法明确病因的POI,可能与多基因突变、表观遗传修饰及环境⁃基因相互作用有关。在临床实践中,加强多学科协作与早期筛查对于提高POI患者的预后至关重要。本文结合近年的研究进展,针对POI的病因进行综述,为降低POI的发病风险和改善患者生活质量提供参考。

The etiology of premature ovarian insufficiency (POI) is complex, involving genetic factors, autoimmune factors, iatrogenic factors, environmental factors and unhealthy lifestyle, etc. Among genetic factors, chromosomal abnormality and single gene mutation are the main causes of the disease. Autoimmune factors play an important role in the pathogenesis of POI, and common diseases include autoimmune thyroid disease, autoimmune adrenal disease, etc. Iatrogenic factors are mainly ovarian damage caused by chemotherapy, radiotherapy or surgery. Environmental factors (such as environmental endocrine-disrupting chemicals) and unhealthy lifestyle (such as smoking) are also closely related to the occurrence of POI. Idiopathic POI refers to POI with unknown etiology, which may be related to polygenic mutations, epigenetic modifications and environmental-gene interaction. In clinical practice, strengthening multidisciplinary collaboration and early screening are essential to improve the prognosis of POI patients. This paper reviews the etiology of POI combined with recent research progress, so as to provide a reference for reducing the onset risk of POI and improving the quality of life in patients.

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