无精子症患者中无精子因子微缺失分布

Clinical characteristics of men with azoospermia factor microdeletion

目的探讨Y染色体无精子症因子（AZF）微缺失不育男性的临床特点。方法对2009年8月至2012年7月就诊于本院的非梗阻性无精子症及严重少精子症患者共355例进行Y染色体AZF微缺失检测，分析AZF微缺失男性精子浓度、睾丸总体积、生殖激素的特点。结果检测出AZF微缺失34例（9．58％），非梗阻性无精子症中发生率10．61％（14／132），严重少精子症中发生率8．97％（20／223）。未检测到AZFa区缺失；AZFb区微缺失4例，3例为无精子症；AZFc区微缺失25例，6例无精子症，16例精子浓度〈1×10^6／ml；AZFb＋C联合缺失5例均为无精子症。AZF微缺失导致的无精子症与梗阻性无精子症相比，睾丸体积小，血清卵泡刺激素（FSH）、黄体生成素（LH）升高。AZF微缺失的严重少精子症男性血清FSH、LH、睾酮（T）与非AZF微缺失的严重少精子症无统计学差异，睾丸体积小于后者。3种微缺失类型间FSH、LH、T和睾丸总体积无明显差异。结论AZF微缺失在非梗阻性无精子症或严重少精子症男性中有一定的发生率（9．58％），建议对无精子症和严重少精子症男性参考血清FSH、睾丸体积进行AZF微缺失筛查。

Objective： To investigate clinical characteristics of infertile man with Y chromosome azoospermia factor （AZF） microdeletion. Methods： A total of 355 patients with non-obstructive azoospermia or severe oligozoospermia, were examined for AZF microdeletion from August 2009 to July 2012. The characteristics such as sperm concentration,total volume of the testicles and reproductive hormones of the patients with microdeletion were analyzed. Results： Among 355 patients,34 patients with AZF microdeletion were found. The incidence of AZF microdeletion was 9.58% in all patients, and 10.61% （14/132）in non-obstructive azoospermia and 8. 97% （20/223）in severe oligozoospermia. No AZFa region microdeletion was found in the patients. AZFb region microdeletion was found in 4 patients in whom 3 patients were azoospermia. AZFc region microdeletion was found in 25 patients in whom 6 were azoospermia and 16 patients＇ sperm concentrations were below 1× 10^8/ml. All the 5 patients with AZFb-c region deletion were azoospermia. Compared with 39 obstructive azoospermia patients,the patients with AZF microdeletion had smaller testis,and higher levels of FSH and LH. Compared to the patients with severe oligospermia without AZF microdeletions, the serum levels of FSH,LH and T were similar, but the testicular volume was less in the patients with severe oligospermiaand AZF microdeletions. No significant differences in testicular volume and reproductive hormones were found between 3 types of microdeletion. Conclusions： There is certain incidence of AZF microdeletions in patients with non-obstructive azoospermia or severe oligozoospermia. These patients referencing serum FSH and testicular volume. should be suggested detecting AZF microdetetions