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早发性卵巢功能不全遗传学病因及管理策略研究进展

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早发性卵巢功能不全(POI)的特征为女性在40岁之前卵巢功能减退、早衰、激素水平紊乱,是导致女性不孕的主要原因之一.POI具体病因尚不完全明确,目前临床认为包括遗传性、自身免疫性、感染性或医源性等因素.其中,遗传性病因占所有患者的20%~25%.确定POI精确致病基因一直具有挑战性,且已知的致病基因在POI致病机制中也未完全阐明,而了解潜在分子机制对预防和早期诊断POI至关重要.因此,本文就POI遗传学研究进展对目前已知的POI致病基因和针对致病基因的治疗方法作一综述.
Study progress in genetic causes and management strategies for premature ovarian insufficiency
Premature ovarian insufficiency(POI),characterized by reduced ovarian function,early aging,and hormonal imbalance in women before the age of 40,is one of the leading causes of female infertility.The specific etiology of POI is not yet fully understood,and clinically it is considered to include genetic,autoimmune,infectious,or iatrogenic factors.Among them,genetic causes account for 20%to 25%of all cases.Identifying the precise pathogenic genes for POI has always been challenging,and the pathogenic mechanisms of the known genes have not been fully elucidated.Understanding the underlying molecular mechanisms is crucial for the prevention and early diagnosis of POI.Therefore,this article provides a review of the study progress in the current known pathogenic genes and the therapeutic methods targeting the pathogenic genes.

Premature ovarian insufficiencyPremature ovarian failureGenetic mutation

韩英琦、高煜琪、黄军霞、陈晓彤、孙振高

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山东中医药大学针灸推拿学院,济南 250014

山东中医药大学第一临床学院,济南 250014

山东中医药大学附属医院生殖与遗传科,济南 250014

早发性卵巢功能不全 卵巢早衰 基因突变

国家自然科学基金项目山东省自然科学基金中医药联合基金培育项目山东省自然科学基金中医药联合基金培育项目

82274572ZR2021LZY026ZR2022LZY009

2024

中国性科学
中国性学会

中国性科学

CSTPCD
影响因子:1.394
ISSN:1672-1993
年,卷(期):2024.33(10)