卵巢不敏感综合征基因研究进展及最新治疗  

Advances in genetic research and treatment of resistant ovary syndrome

作　　者：梁蕾 施迎迎 梅利斌 曾彧 邬晓琳 黄玲玲 李萍[1] Liang Lei;Shi Yingying;Mei Libin;Zeng Yu;Wu Xiaolin;Huang Lingling;Li Ping(Women and Childrens Hospital Affiliated to Xiamen University,Key Laboratory of Reproduction and Heredity of Xiamenn City,Xiamen 361003,China)

机构地区：[1]厦门大学附属妇女儿童医院,厦门市生殖与遗传重点实验室,361003

出　　处：《国际遗传学杂志》2019年第5期365-370,共6页International Journal of Genetics

摘　　要：目前卵巢不敏感综合征(resistant ovary syndrome,ROS)的研究仍处于进展阶段,由于其发病率较低,临床上多散见个案报道,无大样本调查研究,主要集中于促性腺激素受体前水平和部分受体水平.ROS的可能机制是促性腺激素不能有效作用于卵泡而使卵泡不能正常发育,停滞于休止状态.FSH受体或β亚单位基因内的突变,自身免疫过程以及血管细胞上促性腺激素受体的瞬时下调等都是ROS的可能原因,ROS相关基因突变是目前研究的热点,但是由于病例特殊性也是对不断发现新型基因突变的难点.本文通过回顾分析相关文献,对本病的遗传学病因及最新治疗策略作一综述,以期为临床研究提供一定参考.At present,the research on resistant ovary syndrome(ROS)remains inconclusive.Due to its low incidence,there are many case reports but no large sample investigation,which have fo-cused on the pre-gonadotropin receptor levels and partially on the receptor levels.The possible mechanism of ROS is that gonadotropin cannot effectively act on the follicles,so that the follicles cannot develop nor-mally and stagnate in a resting state.ROS is likely involved in mutations in the gene of FSH receptor or itsβ-subunit,autoimmune processes,and transient down-regulation of gonadotropin receptors on vascular cells.ROS-related gene mutations are currently a hot topic,but due to the specificity of ROS cases it is difficult to continuously discover new gene mutations.This article reviews and analyzes the relevant litera-ture,and summarizes the genetic etiology and the latest treatment strategies of this disease,in order to provide some reference for clinical studies.

关 键 词：卵巢不敏感综合征 遗传学 基因突变 基因治疗 

分 类 号：R73[医药卫生—肿瘤]