男性生殖异常与染色体异常关系的探讨

Investigation of relationship between chromosome abnormal karyotype and male reproductive abnormality

目的分析不同生殖异常男性染色体异常和染色体多态的发生率,探讨染色体数量、结构异常与临床效应的相关性。方法选取2009年6月至2011年6月贵阳医学院附属医院就诊的生殖异常男性1 200例,对患者进行病史采集、体格检查、精液常规分析、G显带染色体核型分析。结果 1 200例患者中无精子症85例(7.1%),少弱畸精子症77例(6.4%),习惯性流产97例(8.1%),不明原因不育35例(2.9%);检出染色体异常122例(10.2%),其中数量异常53例(4.4%),结构异常57例(4.8%),反转性别12例(1.0%);染色体多态216例(18.0%);无精子症患者中Y染色体异常发生率为28.2%;少弱精子症和习惯性流产与Y染色体异常和染色体的易位、倒位密切相关。结论生育异常与染色体核型异常有着密切的关系,对生育异常患者进行染色体核型分析,有利于临床诊断,也可为遗传咨询提供依据。

Objective To analyze the incidence of chromosome abnormality of different male reproductive abnormality and chromosome polymorphism, to discuss the relationship between the quantitative and structural abnormalities of chromosome and clinical effects. Methods 1 200 patients with male reproductive abnormalities in The Hospital Affiliated to Guiyang Medical College during June 2009 to June 2011 were chosen, all cases were conducted physical examination, history - taking, semen routine analysis and chromosome karyotype analysis. The relationship between chromosome abnormalities and reproductive abnormalities were analyzed. Results Among 1 200 patients with male reproductive abnormalities, the number of azoospermia, asthenospermia, recurrent spontaneous abortion and unknown reason infertility were 85（7. 1% ） , 77（6.4% ） , 97（8. 1% ） , 35（2. 9% ） respectively. Among 122 （10.2%） patients with chromosome abnormality, the number of chromosome number abnormality, chromosomal structural abnormality, gender inversion were 53 （4. 4% ）, 57 （4. 8% ）, 12 （ 1.0% ） respectively. 216 cases （ 18.0% ） were chromosome polymorphism. The incidence of Y chromosome abnormality in azoospermatism was 28.2%. The asthenospermia and recurrent spontaneous abortion were closely related to Y chromosome abnormality and the chromosome translocations and inversions. Conclusion There is a close relationship between male infertility and abnormal karyotype. It is conducive to clinical diagnosis for the patients with infertility through chromosome karyotye analysis, which also provide evidence for genetic counselling.