无精及严重少精症患者Y染色体微缺失类型与不同分型下性激素水平差异分析
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摘要
目的分析无精及严重少精症患者Y染色体微缺失类型与不同分型下性激素水平差异。方法选取本院2017年1月至2018年5月收治的293例无精及严重少精症患者为研究对象,采用实时荧光定量PCR的方法检测Y染色体无精子症因子(AZF),依据检测结果分为Y染色体微缺失组21例及Y染色体无微缺失组272例,统计无精及严重少精症患者Y染色体微缺失类型,并对不同Y染色体微缺失类型患者性激素水平进行比较。结果293例无精及严重少精症患者中Y染色体微缺失21例(7.17%),AZFc缺失12例(57.14%)、AZFa缺失2例(9.52%)、AZF(b+c)缺失4例(19.05%)、AZF(a+b+c)缺失3例(14.29%),AZF微缺失位点检出率,c区61.29%,b区22.58%,a区16.13%,差异有统计学意义(P<0.05);Y染色体微缺失组促卵泡生成素(FSH)(19.49±6.88)IU/L、促黄体生成素(LH)(8.17±3.72)IU/L、睾酮(T)(12.48±2.27)mmol/L,Y染色体无微缺失组FSH(9.91±4.07)IU/L、LH(7.06±2.35)IU/L、T(13.91±4.43)mmol/L,FSH差异有统计学意义(P<0.05),LH、T差异无统计学意义(P>0.05);Y染色体微缺失组内不同分型患者性激素相比较,AZF(a+b+c)缺失模式FSH和LH值升高最为显著,差异有统计学意义(P<0.05),T差异无统计学意义(P>0.05)。结论无精及严重少精症患者Y染色体微缺失类型以AZFc缺失为主、AZFb缺失次之、AZFa缺失少见,FSH水平在Y染色体微缺失患者中显著升高,其中AZF(a+b+c)缺失模式FSH升高最为显著,通过检测Y染色体有无缺失可为辅助生殖及治疗提供强有力的帮助。
Objective To analyze the relationship between the typing of Y chromosome microdeletion and the serum hormone levels in men with azoospermia and severe oligozoospermia.Methods 293 cases of azoospermia and severe oligozoospermia in the hospital from January 2017 to May 2018 were selected as the research objects.Real-time fluorescent quantitative PCR was used to detect Y chromosome azoospermia factor(AZF).According to the results,all patients were divided into Y chromosome microdeletion group(n=21)and Y chromosome microdeletion-free group(n=272).The Y chromosome microdeletion types of azoospermia and severe oligospermia patients were counted and sex hormone levels in patients with different Y chromosome microdeletion types were compared.Results Among 293 azoospermia and severe oligozoospermia patients,21 had Y chromosome microdeletion,the microdeletion rate was 7.17%,12 had AZFc deletion(57.14%),2 had AZFa deletion(9.52%),4 had AZF(b+c)deletion(19.05%)and 3 had AZF(a+b+c)deletion(14.29%).The detection rate of AZF microdeletion sites was 61.29%in region c,22.58%in region b and 16.13%in region a,and the differences were statistically significant(P<0.05).In Y chromosome microdeletion group,follicle stimulating hormone(FSH)was(19.49±6.88)IU/L,luteinizing hormone(LH)was(8.17±3.72)IU/L,testosterone(T)was(12.48±2.27)mmol/L.In Y chromosome microdeletion-free group,FSH was(9.91±4.07)IU/L,LH was(7.06±2.35)IU/L,T was(13.91±4.43)mmol/L,and the difference of FSH level was statistically significant(P<0.05),but there was no statistical significance in LH and T levels(P>0.05).Compared with the sex hormones of different types of patients in Y chromosome microdeletion group,the FSH and LH levels of AZF(a+b+c)deletion mode increased most significantly,and the difference was statistically significant(P<0.05)and there was no statistical significance in LH and T levels(P>0.05).Conclusion In azoospermia and severe oligozoospermia patients,the Y chromosome microdeletion is mainly AZFc deletion,followed by AZFb deletion and AZFa deletion.FSH level is significantly increased in Y chromosome microdeletion patients,especially in AZF(a+b+c)deletion mode.Detection of Y chromosome microdeletion can provide strong help for assisted reproduction and treatment.
Objective To analyze the relationship between the typing of Y chromosome microdeletion and the serum hormone levels in men with azoospermia and severe oligozoospermia.Methods 293 cases of azoospermia and severe oligozoospermia in the hospital from January 2017 to May 2018 were selected as the research objects.Real-time fluorescent quantitative PCR was used to detect Y chromosome azoospermia factor(AZF).According to the results,all patients were divided into Y chromosome microdeletion group(n=21)and Y chromosome microdeletion-free group(n=272).The Y chromosome microdeletion types of azoospermia and severe oligospermia patients were counted and sex hormone levels in patients with different Y chromosome microdeletion types were compared.Results Among 293 azoospermia and severe oligozoospermia patients,21 had Y chromosome microdeletion,the microdeletion rate was 7.17%,12 had AZFc deletion(57.14%),2 had AZFa deletion(9.52%),4 had AZF(b+c)deletion(19.05%)and 3 had AZF(a+b+c)deletion(14.29%).The detection rate of AZF microdeletion sites was 61.29%in region c,22.58%in region b and 16.13%in region a,and the differences were statistically significant(P<0.05).In Y chromosome microdeletion group,follicle stimulating hormone(FSH)was(19.49±6.88)IU/L,luteinizing hormone(LH)was(8.17±3.72)IU/L,testosterone(T)was(12.48±2.27)mmol/L.In Y chromosome microdeletion-free group,FSH was(9.91±4.07)IU/L,LH was(7.06±2.35)IU/L,T was(13.91±4.43)mmol/L,and the difference of FSH level was statistically significant(P<0.05),but there was no statistical significance in LH and T levels(P>0.05).Compared with the sex hormones of different types of patients in Y chromosome microdeletion group,the FSH and LH levels of AZF(a+b+c)deletion mode increased most significantly,and the difference was statistically significant(P<0.05)and there was no statistical significance in LH and T levels(P>0.05).Conclusion In azoospermia and severe oligozoospermia patients,the Y chromosome microdeletion is mainly AZFc deletion,followed by AZFb deletion and AZFa deletion.FSH level is significantly increased in Y chromosome microdeletion patients,especially in AZF(a+b+c)deletion mode.Detection of Y chromosome microdeletion can provide strong help for assisted reproduction and treatment.
引文
[1]陈前.不育男性染色体异常和Y染色体微缺失的相关性研究[J].临床医学研究与实践,2017,2(32):136-137.
[2]徐清华,吴小华,王琳琳,等.少、弱精子症及无精子症患者染色体多态性分析[J].中国优生与遗传杂志,2017,25(8):71-73.
[3]肖宗辉,汪惠琴,张文金,等.少精子症患者Y染色体微缺失与否与单精子卵细胞胞浆内注射的相关性[J].中国性科学,2017,26(8):105-107.
[4]陈竞茜,马燕琳,黎明红,等.4043例男性不育患者Y染色体多态性观察[J].山东医药,2017,57(19):74-76.
[5]杨帆,林琳,赵克温.运用MLPA技术检测男性不孕患者Y染色体微缺失的临床应用[J].实用检验医师杂志,2017,9(1):13-15.
[6] DAUMLER D,CHAN P,LO K C,et al.Men′s knowledge of their own fertility:apopulation-based survey examining the awareness of factors that are associated with male infertility[J].Hum Reprod,2016,31(12):2781-2790.
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[8]郑毅春,徐丽清,梁嘉颖,等.优化处理技术对男性不育症患者精子形态和DNA碎片指数的影响[J].实用医学杂志,2017,33(2):231-234.
[9]赵亚梅,刘建刚.少精、无精症患者的染色体与性激素水平分析[J].中国现代药物应用,2016,10(16):74-75.
[10]杨洋,王树玉,周丽颖,等.PCR-荧光探针法检测严重少精子症或无精子症患者Y染色体微缺失的研究[J].中国性科学,2016,25(6):123-126.
[11]段晋燕,侯迪,薛丹丹,等.实时荧光定量PCR技术在男性不育患者Y染色体微缺失检查中的应用[J].解放军医学院学报,2016,37(4):312-316.
[12]MISHIMA T,WATARI M,IWAKIY,et al.Miller‐Dieker Syndrome with unbalanced translocation 45,X,psudic(17;Y)(p13;p11.32)detected by fluorescence in situ hybridization and G‐banding analysis using high resolution banding technique[J].Congenit Anom,2017,57(2):61-63.
[13]KRAUSZ C,HOEFSLOOT L,SIMONI M,et al.EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions:state-of-the-art 2013[J].Andrology,2014,2(1):5-19.
[14]何海洪,周后钢,陈艳清,等.626例严重生精障碍男性染色体和无精子因子的研究分析[J].重庆医科大学学报,2014,39(11):1564-1568.
[15]MASCARENHA M,THOMAS S,KAMATH MS,et al.Prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with severe semen abnormalities and its correlation with successful sperm retrieval[J].J Hum Reprod Sci,2016,9(3):187-193.
[2]徐清华,吴小华,王琳琳,等.少、弱精子症及无精子症患者染色体多态性分析[J].中国优生与遗传杂志,2017,25(8):71-73.
[3]肖宗辉,汪惠琴,张文金,等.少精子症患者Y染色体微缺失与否与单精子卵细胞胞浆内注射的相关性[J].中国性科学,2017,26(8):105-107.
[4]陈竞茜,马燕琳,黎明红,等.4043例男性不育患者Y染色体多态性观察[J].山东医药,2017,57(19):74-76.
[5]杨帆,林琳,赵克温.运用MLPA技术检测男性不孕患者Y染色体微缺失的临床应用[J].实用检验医师杂志,2017,9(1):13-15.
[6] DAUMLER D,CHAN P,LO K C,et al.Men′s knowledge of their own fertility:apopulation-based survey examining the awareness of factors that are associated with male infertility[J].Hum Reprod,2016,31(12):2781-2790.
[7] YUMURA Y,TSUJIMURA A,IMAMOTO T,et al.Nationwide survey of urological specialists regarding male infertility:results from a 2015questionnaire in Japan[J].Reprod Med Biol,2018,17(1):44-51.
[8]郑毅春,徐丽清,梁嘉颖,等.优化处理技术对男性不育症患者精子形态和DNA碎片指数的影响[J].实用医学杂志,2017,33(2):231-234.
[9]赵亚梅,刘建刚.少精、无精症患者的染色体与性激素水平分析[J].中国现代药物应用,2016,10(16):74-75.
[10]杨洋,王树玉,周丽颖,等.PCR-荧光探针法检测严重少精子症或无精子症患者Y染色体微缺失的研究[J].中国性科学,2016,25(6):123-126.
[11]段晋燕,侯迪,薛丹丹,等.实时荧光定量PCR技术在男性不育患者Y染色体微缺失检查中的应用[J].解放军医学院学报,2016,37(4):312-316.
[12]MISHIMA T,WATARI M,IWAKIY,et al.Miller‐Dieker Syndrome with unbalanced translocation 45,X,psudic(17;Y)(p13;p11.32)detected by fluorescence in situ hybridization and G‐banding analysis using high resolution banding technique[J].Congenit Anom,2017,57(2):61-63.
[13]KRAUSZ C,HOEFSLOOT L,SIMONI M,et al.EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions:state-of-the-art 2013[J].Andrology,2014,2(1):5-19.
[14]何海洪,周后钢,陈艳清,等.626例严重生精障碍男性染色体和无精子因子的研究分析[J].重庆医科大学学报,2014,39(11):1564-1568.
[15]MASCARENHA M,THOMAS S,KAMATH MS,et al.Prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with severe semen abnormalities and its correlation with successful sperm retrieval[J].J Hum Reprod Sci,2016,9(3):187-193.