Dai X W, Xu Y, Zheng L W, Li L Y, Li D D, Tan X, Gao F, Wang Y, Wu G J
Center for Reproduction Medicine, the Second Hospital of Jilin University, Changchun 130041, China.
Medical Insurance Office, the Second Hospital of Jilin University, Changchun 130041, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2018 Oct 18;50(5):774-777.
To explore the incidience of chromosome abnormality of the patients with oligozoospermia or azoospermia and male infertility, to discuss the relationship between the quantitative and structural abnormality of chromosome and to lay the foundation for the clinical diagnosis and consultation.
A retrospective analysis was conducted from January 1, 2015 to May 1, 2016, in the Center for Reproduction Medicine, the Second Hospital of Jilin University, with male reproductive abnormalities history excluded. In the study, 1 324 cases were included with 448 cases of azoospermia and 876 cases of oligozoospermia. All the patients through ultrasound examination, color Doppler ultrasonography, the seminal plasma Zn determination, their hormone level determination, chromosome karyotype (the perinatal blood samples were obtained from the 1 324 patients with oligozoospermia or azoospermia for lymphocyte culture, then chromosomal specimens were prepared, G-banding analyses combined with clinical data were used to statistically analyze the incidence of chromosomal abnormality), Y chromosome azoospermia factor [PCR technique was used to detect SY157 locus, SY254 locus, and SY255 locus in male Y chromosome azoospermia factor (AZF) gene of the patients with oligozoospermia or azoospermia]. The relationship between chromosome abnormalities and oligozoospermia or azoospermia were analyzed.
Among the 876 cases of oligospermia patients, 78 cases were chromosome number abnormality and chromosomal structural abnormality, the abnormal number of sex chromosomes in 22 cases, and sex chromosomes and chromosome structural abnormalities in 56 cases; in the 448 cases of azoospermia patients, 91 cases were chromosomal structural abnormality and chromosome number abnormality, of them, 78 cases were of abnormal number of sex chromosomes, and 13 cases were of abnormal structure. In addition, 137 cases were of chromosome polymorphism in all the 1 324 patients, The incidence of Y chromosome abnormality in azoospermatism was higher than that of the 43 patients with Y chromosome AZF microdeletion. In addition, the asthenospermia and recurrent spontaneous abortion were closely related to Y chromosome abnormality and the chromosome translocations and inversions.
Oligozoospermia and azoospermia patients with abnormal chromosome karyotype have high incidence rate, and chromosome karyotype analyses were carried out on it, which is conducive to clinical diagnosis for the patients with abnormal chromosome karyotype. 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 provides evidence for genetic counseling.
探讨少弱精子症或无精子症男性不育患者染色体异常的发生率，探讨染色体数量与结构异常之间的关系，为临床诊断与咨询奠定基础。
回顾性分析2015年1月1日至2016年5月1日在吉林大学第二医院生殖医学中心就诊、排除男性生殖系统异常病史的患者。本研究共纳入1324例患者，其中无精子症448例，少弱精子症876例。所有患者均行超声检查、彩色多普勒超声检查、精浆锌测定、激素水平测定，对1324例少弱精子症或无精子症患者采集外周血进行淋巴细胞培养，制备染色体标本，采用G显带分析并结合临床资料统计分析染色体异常的发生率，采用PCR技术检测少弱精子症或无精子症患者男性Y染色体无精子症因子（AZF）基因中的SY157位点、SY254位点和SY255位点。分析染色体异常与少弱精子症或无精子症之间的关系。
876例少弱精子症患者中，染色体数目异常和染色体结构异常78例，性染色体数目异常22例，性染色体与染色体结构异常56例；448例无精子症患者中，染色体结构异常和染色体数目异常91例，其中性染色体数目异常78例，结构异常13例。此外，1324例患者中染色体多态性137例，无精子症患者Y染色体异常发生率高于43例Y染色体AZF微缺失患者。此外，弱精子症和反复自然流产与Y染色体异常以及染色体易位和倒位密切相关。
少弱精子症和无精子症患者染色体核型异常发生率较高，对其进行染色体核型分析，有利于染色体核型异常患者的临床诊断。男性不育与核型异常关系密切。通过染色体核型分析有利于不育患者的临床诊断，也为遗传咨询提供依据。
