关键词: 不育, 男（雄）性, 遗传学技术, 遗传咨询, 生殖技术, 辅助, 治疗, 诊断

Abstract: Genetic abnormalities are important reasons of male infertility. Karyotypic abnormalities，Y chromosome microdeletion，abnormality of sperm DNA integrity, and so on, are common genetic abnormalities ofmale infertility. It is different to perform genetic counseling and to choose therapeutic strategy for those differenttypes of karyotype. As for chromosomal polymorphism，they are usually considered to be chromosomal non-pathological changes. The heredity risk is inconsistent among individuals who carry the balanced translocation of chromosome. The ratio between sperm with normal and sperm with balanced chromosome is much higher thanthe theoretical value in most patients. Furthermore，the ratio of babies with anomaly chromosome is lower thanthe expected value in those patients with balanced translocation. The fertility rate has been improved in thosepatients with balanced translocation by conventional IVF/ICSI-ET technique or PGD therapy. For those patientswith chromosome inversion, the percentage of recombinant sperm of paracentric inversion is low, which is similarto that of control with normal chromosome. Effect of pericentric inversion on the pregnant outcome can beevaluated by the size of inverted fragment, or by the ratio of anomaly recombinant sperm detected by FISHanalysis. These data provide basis of ART treatment options. Klinefelter syndrome （47，XXY）is the most common syndrome with abnormal sex chromosome. Patients with Klinefelter syndrome could get healthy offspringthrough the combination treatment with hormone replacement，TESE and ICSI. Patients with Y chromosome microdeletion can procreate a healthy daughter through ICSI treatment and PGD. The clinical significance ofsperm DNA integrity for evaluating male infertility is still controversy. It is known that anti-oxidate therapy canalleviate oxidative damage and improve sperm DNA integrity. Other hereditary diseases associated with maleinfertility，such as congenital bilateral absence of vas deferens，idiopathic hypogonadotropic hypogonadism，androgen insensitivity syndrome，immotile cilia syndrome and globozoospermia syndrome，etc.，may due to gene mutation. Therefore，it is essential to perform genetic diagnosis on the parents to survey related gene mutations，meanwhile PGD or prenatal diagnosis should be performed to avoid the birth of genetic defective infants.

Key words: nfertility, male, Genetic techniques, Genetic counseling, Reproductive techniques, assisted, Therapy, Diagnosis