126例无精子症患者临床特征及细胞分子遗传学检测综合分析
摘要
目的探讨126例无精子症患者的临床特征及细胞分子遗传学特征,为临床无精子症类型的诊断及治疗提供正确的指导。方法收集厦门市126例无精子症患者的临床资料并对其进行实验室相关检测,精液检查依照世界卫生组织指南操作,卵泡刺激素(FSH)、黄体生成素(LH)、睾酮(T)、雌激素(E2)、泌乳素(PRL)采用BECKMAN ACCESS化学发光法检测,精浆生化检测采用分光光度比色法检测锌含量、果糖及中性α-葡糖苷酶等指标。外周血淋巴细胞按常规染色体培养及G和Q显带行核型分析,Y染色体微缺失检测选取EAA和EMQN推荐的6个Y染色体特异标签序列位点行Y染色体AZFa、AZFb和AZFc区微缺失检查。结果 126例无精子症患者中检出染色体异常44例,占总数34. 92%;其中染色体数量异常32例,全部为47,XXY,染色体结构异常12例,包括了染色体倒位、染色体易位、染色体部分基因缺失、性反转综合征等。检出Y染色体微缺失14例,占总数11. 11%;其中AZF (b、c)区缺失6例,AZF (c)区缺失4例,AZF (a、b、c)区缺失3例,AZF (a)区缺失1例。精浆生化检测发现中性α-葡糖苷酶正常92例,异常34例;果糖正常96例,异常30例;锌正常112例,异常14例。发现睾丸前因素17例,睾丸因素50例,睾丸后因素28例,不明原因31例。发现高促性激素组71例,低促性激素组10例,正常激素组45例。发现59例睾丸体积>12ml,38例睾丸体积6～12 ml,29例睾丸体积<6 ml。结论对无精子症患者必须进行详细的病史询问和体格检查,同时进行必要的实验室检查如性激素检查、精浆生化检测、染色体核型分析、Y染色体微缺失检测等。
引文
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[13] Huang B,Wang S,Ning Y,et al. Autosomal XX sex reversal caused by duplication of SOX 9[J]. Am J Med Genet,1999,87(4):349-353.
[14] Silber SJ,Microsurgical TESE and the distribution of spermatogenesis in non-obstructive azoospermia[J]. Hum Reprod,2000,15(11):2278-2284.
[15]张靖,刘贵华,赵鲁刚,等.显微取精术治疗非梗阻性无精子症的疗效分析(附196例报告)[J].中华男科学杂志,2017,23(9):804-807.
[2] Simoni M,Bakker E,Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions State of the art 2004[J]. Int J Androl,2004,27(4):240-249.
[3]朱晓斌,郭安亮,曹小蓉,等.改良多重聚合酶链反应检测Y染色体AZF微缺失[J].中华男科学杂志,2006,12(3):199-201.
[4] Gonzales GF. Function of seminal vesicles and their role on male fertility[J]. Asian J Anadrol,2001,3(4):251-258.
[5]库卓华.人精子在附睾中的成熟[J].中华男科学杂志,2001,7(1):1-9.
[6] Elzanaty S,Richthoff J,Malm J,etal. The impact of epididymal and accessory sex gland function on sperm motility[J]. Hum Reprod,2002,17(11):2904-2911.
[7]谷振环,李环,陈一鑫,等.精液生精细胞学检查与睾丸细针穿刺对无精症诊断的比较[J].中国实验诊断学,2008,12(12):1554-1556.
[8]王江平,叶德立,李焱萍,等. 658例无精子症患者染色体核型分析[J].中国优生与遗传杂志,2006,14(9),43-45.
[9]王竹韵. 61例男性性发育不良病人染色体分析及临床意义[J].中国优生与遗传杂志,2002,10(2):41-43.
[10] Hueklenbroiek K,Gromol J,Heim'ich M,et a1. Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis[J]. Hum Reprod,2005,20(1):191-197.
[11] Vogt PH. Human ehromosome deletions in Yql 1,AZF candidate genes and male infertility:history and update[J]. Mol Hum Report,1998,4(4):739-744.
[12]柳林,逄力男,杨利丽. 46,XX男性表型及遗传学研究进展[J].国外医学(内分泌学分册),2005,25(4):283-285.
[13] Huang B,Wang S,Ning Y,et al. Autosomal XX sex reversal caused by duplication of SOX 9[J]. Am J Med Genet,1999,87(4):349-353.
[14] Silber SJ,Microsurgical TESE and the distribution of spermatogenesis in non-obstructive azoospermia[J]. Hum Reprod,2000,15(11):2278-2284.
[15]张靖,刘贵华,赵鲁刚,等.显微取精术治疗非梗阻性无精子症的疗效分析(附196例报告)[J].中华男科学杂志,2017,23(9):804-807.