卵巢抵抗综合征分级及病因研究

摘要

目的 探讨卵巢抵抗综合征(ROS)的分级以及病因.方法 收集2015年9月至2016年12月广州医科大学附属第三医院收治的ROS患者共6例,按基础FSH水平将ROS划分为3个等级:10 U/L＜ FSH＜25 U/L为ROS一级,25 U/L≤FSH＜40 U/L为ROS二级,FSH≥40U/L为ROS三级,获取患者临床资料及血液标本,进行FSHR及LHCGR基因组测序.结果 6例患者均出现LHCGR(rs2293275,c.935A＞G,p.Asn680Ser)突变以及部分患者出现FSHR(rs6165,c.919A＞G,p.Thr307Ala)、(rs6166,c.2039A＞G,p.Asn680Ser)突变.在大剂量外源性促性腺激素用药的情况下,ROS一级患者能获取少量卵子,ROS三级患者均获卵失败.结论 rs2293275突变可能与ROS发生有关,ROS等级越高,卵泡对促排卵药物反应性越差.%Objective To investigate the grading and etiology of ROS.Methods Totally 6 cases of ROS were collected at the Third Affiliated Hospital of Guangzhou Medical University from September 2015 to December 2016.According to the basic FSH level,the ROS was divided into 3 grades.The first-grade ROS range was 10 U/L≤ FSH＜25 U/L,the second-grade ROS range was 25 U/L≤ FSH＜40 U/L,and the third-grade ROS range was FSH≥40 U/L.Clinical data and blood samples were obtained and genomic sequencing of FSHR and LHCGR was carried out.Results LHCGR mutation (rs2293275,c.935A＞G,p.Asn680Ser)]occurred in all patients and FSHR mutation[(rs6165,c.919A＞G,p.Thr307Ala)and (rs6166,c.2039A＞G,p.Asn680Ser)occurred in some patients.The first-degree ROS patients were able to acquire small amounts of oocytes,while the third-degree ROS patients failed,in the case of large dose of exogenous gonadotropin therapy.Conclusion The rs2293275 mutation may be associated with ROS development and the higher the ROS degree,the lower the response of the follicle to ovulation induction drugs.