无精与严重少精症Y染色体AZF区域微缺失与生殖激素的关系

Relationship between follicle stimulating hormone and AZF microdeletion on Y chromosome in patients with azoospermia or severe oligozoospermia

目的探讨Y染色体AZF区域微缺失与生殖激素的关系。方法应用多重PCR扩增对100例无精与严重少精症患者的4个区域15个位点进行AZF基因检测，并采用贝克曼全自动化学发光仪进行生殖激素的测定。采用Epidata建立数据库，应用SAS软件进行均数和方差分析F检验的统计分析。结果100例患者中发生AZF微缺失的患者13例，检出率为13％。13例AZF微缺失情况：AZFa区缺失1例；AZFb＋c＋d区缺失4例；AZFc＋d区缺失7例；AZFd区缺失1例。Y染色体AZFb＋c＋d区缺失患者的卵泡刺激素值（40．8±11．3）U／L显著高于无Y染色体缺失患者（16．7±14．3）U／L和AZFa区、AZFc＋d区、AZFd区缺失患者（11．8±6．7）U／L，差异具有统计学意义（P〈0．01）。结论在无精与严重少精症患者中Y染色体的微缺失以AZFc区和AZFd区缺失最常见，而Y染色体AZFb＋c＋d区的缺失可能是引起高卵泡刺激素的重要原因之一。

Objective To investigate the relationship between follicle stimulating hormone （FSH） and AZF microdeletion on Y chromosome. Methods Fifteen loci of 4 regions of the AZF gene were investigated by multiplex PCR in 100 patients with azoospermia or severe oligozoospermia. The reproductive hormone FSH was detected by access 2 immunoassay system from BECKMAN COULTER. Epidata was set up and analyzed for means. F test of anova was performed. Results The rate of microdeletion was 13% （13 out of 100 patients）. The deletion was on AZFa in 1 patient, AZFb＋c＋d in 4 patients, AZFc＋d in 7 patients, AZFd in 1 patient, respectively. The level of FSH （40.8±11.3 U/L） in the AZFb＋c＋d deletion group was significantly higher than that in the group without Y chromosome deletion （16.7 ± 14.3 U/L） and the other types of deletion （11.8±6.7 U/L）（P〈0.01）. Conclusion The common microdeletion regions were AZFc and AZFd on Y chromosome in azoospermia or severe oligozoospermia. The microdeletion of AZFb＋ c＋d was one of the important causes of the high level of FSH.