男性生育功能障碍患者中性染色体异常的特点及临床效应分析

Clinical implication of sex chromosomal abnormalities on male fertile function

目的:探讨男性生育功能障碍患者中性染色体核型异常的特点及表现,解析对临床诊疗的指导意义。方法:回顾性分析染色体核型分析结果,对X及Y染色体异常核型的检出率进行比较并进行临床分析。结果:在2305例受检者中共检出192例性染色体异常,检出率为8.33%。其中,X染色体数目异常89例,主要为46,XXY,占总异常数目的 46.35%。Y染色体多态性共101例,占总异常数目的 52.6%。X染色体异常检出率与Y染色体变异的检出率之间比较没有统计学差异。X染色体异常多为非嵌合克氏征,临床效应多为表现为小睾丸及无精症,导致男性不育。Y染色体的多态性不仅仅导致少、弱精症及男性不育,更可能与胚胎停育、自然流产等不良妊娠事件关系密切。结论:男性生育功能障碍患者中性染色体异常的主要表现为X染色体数目异常及Y染色体的多态性变异,其中,克氏征(46,XXY)最为常见,可能是导致男性生育力低下的重要因素之一,Y染色体的多态性可能不仅仅是一种遗传变异,与X染色体数目异常直接导致男性性腺功能低下及无精症相比,Y染色体的多态性对不良妊娠结局的影响更值得关注,具体机制值得深入研究。

Objectives： To investigate the effects of the abnormalities of sex chromosome configuration on male fertility and to evaluate the relevant clinical significance.Method： Cytogenetics of patients was examined by culturing peripheral-blood lymphocyte and G-banding technology,and karyotyping analysis technique was used to study the abnormalities of sex chromosomes.Results： Among 2305 cases,192 cases were diagnosed with abnormal karyotype of sex chromosomes,and the detection rate was 8.33％.There were 89 cases of X abnormality and 101 cases of Y polymorphisms.There was no significant difference in the detection rate between X chromosomal and Y chromosomal abnormality.Most of the abnormalities of X chromosome is 46,XXY,and it mainly leads to small testes,azoospermia and male infertility.By contrast,the polymorphism of Y chromosome is not only related with azoospermia and oligozoospermia,but also with adverse pregnancy outcomes like embryo stopping growing and miscarriage.Conclusion： Sex chromosomal abnormality plays an important role in the male infertility.The most common abnormality of X chromosome is Klinefeher syndrome.The polymorphism of Y chromosomal is very likely not only resulting in the male infertility directly,but also an important and continuous reason of adverse pregnancy outcomes,of which the detailed mechanism needs to be further investigated.