摘要
目的探讨不育男性中Y染色体微缺失的临床表型及对于行辅助生殖技术(ART)助孕过程中的实验室指标和妊娠结局的影响。方法回顾性分析Y染色体微缺失患者的表型分类及助孕结局,并分别与Y染色体无缺失组及输卵管因素对照组进行比较,分析各组一般资料、实验室检查结果及妊娠结局。结果共998例进行了Y染色体无精子因子(AZF)微缺失检测,其中检出131例发生Y染色体微缺失,发生率为13.12%。AZFc区微缺失及AZFc区联合d区微缺失较为多见。AZFa区的微缺失发生率低,但临床表型严重。Y染色体缺失组在精液量、精液pH、妊娠率及流产率上分别与另2组比较,差异无统计学意义;而Y染色体无缺失组、输卵管因素对照组的精液密度、精子活力及优质胚胎率均优于Y染色体微缺失组,差异有统计学意义。结论 Y染色体微缺失与男性不育关系密切。通过对于Y染色体AZF区微缺失的检测和分类,可以在制定诊疗方案时减少对患者采用不必要的手术和药物治疗。对于行辅助生殖助孕的Y染色体微缺失患者,在能够获得可使用精子的情况下,Y染色体微缺失对行卵细胞浆内单精子注射后对妊娠结局无显著影响,但胚胎质量存在差异,需密切随访后代。
Objective To explore the phenotype of Y chromosome microdeletion in infertile men and its impact on laboratory indicators and pregnancy outcomes during using assisted reproductive technology (ART). Methods Phenotypic classification and prognostic outcomes in patients with Y chromosome microdeletions were retrospectively analyzed. The Y chromosome microdeletions group were respectively compared with the Y chromosome non-deletion group and the female fallopian tube diseases control group. The general data, laboratory indicators and pregnancy outcomes of each group were analyzed. Results A total of 998 infertile male patients who underwent Y chromosome microdeletion(AZF region) screening were recruited in the study. A total of 131 patients with Y chromosome microdeletions were detected, with an incidence of 13.12%. AZFc region microdeletions and AZFc combined with AZFd region microdeletions were more common in all types. The incidence of microdeletions in the AZFa region was the lowest, but the clinical phenotype of AZFa microdeletion was most serious. The Y chromosome microdeletions group showed no statistical difference in semen volume, semen pH, and pregnancy outcomes respectively compared with the Y chromosome non-deletion group and the control group, while the Y chromosome non-deletion group and the control group had higher sperm concentration and sperm motility, and the quality of embryos was better than the Y chromosome microdeletion group. Conclusion Y chromosome microdeletions are closely related to male infertility. By detecting and classifying the microdeletions in the AZF region of the Y chromosome, unnecessary surgery and medication can be avoided when deciding a treatment plan. For patients with Y chromosome microdeletions assisted by ART, when the available sperm can be obtained, Y chromosome microdeletions have no significant effect on pregnancy outcomes after performing intracytoplasmic sperm injection-embryo transfer(ICSI-ET), but embryo quality varies, and the offspring should be closely followed
作者
周怡然
陈蓓丽
朱静
章志国
曹云霞
Zhou Yiran;Chen Beili;Zhu Jing(Reproductive Medicine Center,Dept of Obstetrics and Gynecology,The First Affiliated Hospital of Anhui Medical University, Hefei 230022;Anhui Province Key Laboratory of Reproductive Health and Genetics, Hefei 230022;Biopreservation and Artificial Organs,Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei 230022)
出处
《安徽医科大学学报》
CAS
北大核心
2019年第9期1415-1418,1424,共5页
Acta Universitatis Medicinalis Anhui
基金
中央引导地方科技发展专项项目(编号:YDZX 20183400004194)
安徽省高校自然科学研究项目(编号:KJ2016A320)
关键词
Y染色体微缺失
男性不育
辅助生殖技术
妊娠结局
Y chromosome microdeletion
male infertility
assisted reproductive technology
pregnancy outcomes
