518例男性无精症的染色体核型分析

Karyotype analysis of 518 cases of male azoospermia

目的通过对518例因无精子症而不育的患者进行细胞遗传学检查分析,探讨无精子症与外周血染色体核型异常的关系,并分析研究染色体核型异常在男性不育中的诊断意义。方法选取518例生殖门诊就诊的男性无精子症患者,采用外周血染色体核型分析法进行分析。应用常规外周血淋巴细胞培养、收获、滴片、固定、制片及G显带技术进行染色体核型分析。结果518例患者经外周血染色体核型分析后,共检出100例异常染色体核型,即染色体异常发生率为19.23%,与文献报道异常发生率19.6%基本相符。异常核型主要归为下列三大类:1.染色体数目异常52例:(1)47,XXY,克氏综合征,共48例,(2)嵌合型,共4例;2.染色体结构异常,共39例:(1)染色体平衡易位,共4例,(2)染色体倒位,共7例,(3)染色体多态性,共23例;3.性反转:46,XX,性反转综合征9例。结论染色体核型异常是导致男性无精的重要原因之一,对于无精症的患者进行染色体检查,有助于病因的分析,并可以为生育提供重要的依据。

Objective To investigate the relationship between azoospermia and chromosomal abnormalities by cytogenetic analysis of518 patients who were infertile due to azoospermia,and to analyze the diagnostic significance of chromosomal abnormalities in male infertility.Methods A total of 518 male azoospermia patients in the reproductive clinic were selected for karyotype analysis of peripheral blood.Chromosomal karyotype analysis was performed using conventional peripheral blood lymphocyte culture,harvesting,dropping,fixed preparation and G-banding.Results A total of 100 abnormalities were detected in the karyotype of peripheral blood of 518 patients,that is,the incidence of chromosomal abnormalities was 19.23%,which was basically consistent with the abnormal incidence rate of 19.6% reported in the literature.Abnormal karyotypes can be mainly classified into the following three categories:1.Abnormal chromosome number in 52 cases:(1)47,XXY,Klinefelter syndrome,a total of 48 cases,(2)chimeric type,a total of 4 cases;2.Chromosomes Structural abnormalities,a total of 39 cases:(1)chromosome balanced translocation,a total of 4 cases,(2)chromosome inversion,a total of 7 cases,(3)chromosome polymorphism in 23 cases;3.sexual reversal:46,XX,sex 9 cases of reversal syndrome.Conclusions Abnormal karyotype is one of the important causes of azoospermia in male.Chromosome examination for patients with azoospermia can help to analyze the cause and provide an important basis for fertility.