**5. Genetic factors and male infertility (Y chromosome infertility)**

15 percent of male infertility cases have genetic factors associated either with the chromosomal abnormality or single –gene mutations. Men with Azospermia have reported chromosomal abnormalities in 14% of cases [37]. The most common being the Klinefelter syndrome, 47, XXY leads to the impaired spermatogenesis. Patients with severe oligozoospermia show translocation, the most common being the Robertson and Bilateral translocation. Autosomal inversions are almost eight times seen in the men with infertility issues. Y chromosome deletions in the long arm region termed AZF mostly occur in Azospermic men. **Figure 5** showing the AZF region with three zones AZFa, AZFb, AZFc, micro deletion occur in palindrome sequences. Y chromosome micro deletion affects the 10% of infertile men [1]. Deletion of AZFa results in the sertoli cell phenotype. Intra AZFb deletion is prevalent in Azospermic men. Deletions corresponding to AZFc region are most severe and can lead to the issues like sertoli cell syndrome and Oligospermia. Some gene mutations with pathological syndrome are also involved in the male infertility. In cases of severe testiculopathies in infertile men deletions pertaining to the long arm on Y chromosome are commonly reported in the available literature.

#### **5.1 Primary ciliary dyskinesia (PCD)**

PCD is a blanket term most commonly used to describe a condition of many closely related disorders caused due to the impaired motility of Ciliary Structures [39]. Although not obligatory but it has been reported in the literature that affected males suffer infertility mainly due immotile spermatozoa. Important to mention here that Ultra structural defects are mainly due to the absence of dynin arms and malformed radial spokes.

#### **5.2 Kartagener syndrome**

Men suffering from KS syndrome have joint disorders like bronchiectasis, Chronic Sinusitis and Sperm immotility. Kartagener syndrome is often recognized *Understanding Male Infertility for Promising ART DOI: http://dx.doi.org/10.5772/intechopen.98504*

**Figure 5.** *Structure of Y chromosome [38].*

as a subset of a larger Ciliary disorder. In this syndrome the genetic defects leads to impaired Ciliary motility mainly responsible for causing recurrent chest and ear infection besides infertility has also been reported in the scientific literature [40].

## **5.3 Persistent mullerian duct syndrome**

It is seen during the early embryonic development that regression of Mullerian duct is mediated mainly due to the anti-mullerian hormone (AMH) often called as Mullerian inhabiting substance (MIS) [39]. Gene for this hormone has been mapped to 19p13 and mutations in it can cause the persistent Mullerian syndrome. Normally virilised Men with persistent Mullerian duct syndrome show the presence of both fallopian tubes and a uterus.
