Infertility is an emotionally charged problem affecting an estimated 15% of all couples. The man should be evaluated concurrently with the woman, since a male factor is the primary or contributing cause in 40% to 60% of cases. The evaluation of the infertile male continues to be a clinical challenge of increasing significance with considerable emotional and financial burdens. Many physiological, environmental and genetic factors are implicated.The infertility practitioner should have a thorough understanding of the advantages and limitations of various laboratory tests as well as the indications, costs and success rates of all treatment options. A complete medical history in conjunction with a focused examination can allow for an appropriate choice of laboratory and imaging studies. The semen analysis is a crucial first step, but it is by no means sufficient to determine cause or dictate therapy. Azoospermia factor (AZF) microdeletions of the Y chromosome, which occur in 1-55% of infertile men, are closely associated with severe spermatogenic failure and represent the most frequent molecular genetics causes of azoospermia and severe oligozoospermia. Researches on AZF and its related genes, approaching the mechanisms of spermatogenic failure at the molecular level, are of great significance for the diagnosis, treatment and prognosis of male infertility. The detection of AZF microdeletions can provide scientific basis for correct diagnosis and reasonable. Klinefelter, s syndrome and Y chromosome microdeletions are the most prevalent disorder, together accounting for 10-20% of patients evaluating for genetic cause of male infertility. Other cause of primary testicular failure such as undescended testis and orchiti should be considered as certain causes of infertility.Hypogonadotropic hypogonadism due to pituitary adenoma, panhypopituitarism hyperprolactinemia or idiopathic causes is another treatable etiology of male infertility. For part of infertile patients a genetic factor will be the underlying cause of the problems. The studies, focusing on men with fertility problems, can be subdivided into three groups: studies on deletions on the long arm of the Y chromosome, studies on X-linked genes and studies on autosomal genes. It is obvious that Yq microdeletions should be considered as a cause of male infertility. Therefore, couples with a component of male factor infertility need a systematic evaluation directed at the male partner to maximize their reproductive potential.