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目的筛查严重少精子症及无精子症患者Y染色体AZF区域微缺失的发生情况,探讨Y染色体微缺失患者与生殖激素水平的关系。方法对138例男性不育患者(其中无精子症患者86例,少精子症患者52例)进行Y染色体无精子因子(azoospermia factor,AZF)微缺失分析,同时用化学发光法测定生殖激素水平。结果 138例患者中发生AZF微缺失患者7例,检出率为5.04%,其中严重少精子症3例,无精子症4例。7例AZF微缺失情况:AZFb区缺失3例;AZFb+c区缺失4例。Y染色体AZFb区缺失患者的卵泡刺激素(FSH)值(53.36±41.59)m IU/m L及AZFb+c区患者的卵泡刺激素(FSH)值(39.16±20.14)m IU/m L显著高于无Y染色体AZF区缺失患者(13.7±10.62)m IU/m L,Y染色体AZFb区缺失患者的促黄体生成素(LH)值(19.41±12.52)m IU/m L及AZFb+c区患者的促黄体生成素(LH)值(16.66±6.78)m IU/m L显著高于无Y染色体AZF区缺失患者(6.29±3.94)m IU/m L,Y染色体AZFb区缺失患者的睾酮(T)值(1.75±0.75)ng/m L及AZFb+c区患者的睾酮(T)值(3.80±1.99)ng/m L显著低于无Y染色体AZF区缺失患者(5.53±1.90)ng/m L,差异具有统计学意义(P<0.05)。结论在无精子症及严重少精子症患者中Y染色体微缺失以AZFb区与AZFc区缺失最为常见。Y染色体AZFb+c区缺失是与FSH、LH和睾酮水平变化密切相关。
Objective To screen the microdeletion of Y chromosome AZF in patients with severe oligospermia and azoospermia and to explore the relationship between Y chromosome microdeletions and reproductive hormone. Methods Azoospermia factor (AZF) microdeletion analysis was performed in 138 cases of male infertility (including 86 cases of azoospermia and 52 cases of oligospermia), and the levels of reproductive hormones were determined by chemiluminescence. Results Among 138 patients, 7 cases of AZF microdeletions occurred, with a detection rate of 5.04%. Among them, 3 cases were severe oligozoospermia and 4 cases were azoospermia. Seven cases of AZF microdeletions: three cases of AZFb deletion and four cases of AZFb + c deletion. The follicle stimulating hormone (FSH) value (39.16 ± 20.14) m IU / m L in patients with deletion of Y chromosome AZFb was significantly higher (53.36 ± 41.59) m IU / m L and AZFb + c In patients without AZF deletion (13.7 ± 10.62) m IU / m L, the LH value (19.41 ± 12.52) m IU / m L and AZFb + c patients with deletion of Y chromosome AZFb (16.66 ± 6.78) m IU / m L of luteinizing hormone (LH) was significantly higher than that of patients without AZFb deletion (6.29 ± 3.94 mIU / m L) ) Were significantly lower than those in the absence of Y chromosome (5.53 ± 1.90 ng / m) in patients with AZFb + c (1.75 ± 0.75 ng / m L) and AZFb + c (3.80 ± 1.99 ng / m L) L, the difference was statistically significant (P <0.05). Conclusion In patients with azoospermia and severe oligospermia Y chromosome microdeletion AZFb and AZFc area is the most common deletion. The deletion of AZFb + c region on chromosome Y is closely related to the changes of FSH, LH and testosterone.