The Role of Genetics in Male Infertility

Male infertility is a health issue of much concern t males as well as medical professionals as it is a question of conception. Male infertility treatment does entail problems related to male issues regarding fertility.

Male infertility happens to be a multi-factorial pathological condition affecting the male population. The genetic landscape of male infertility is rather highly complex as semen as well as testis histological phenotypes are of course extremely heterogeneous, and at least 2,000 genes are supposed to be involved in spermatogenesis.

Role of Genetic and epigenetic factors in male infertility treatment

This review discusses the importance of genetic as well as epigenetic factors in the pathophysiology of male infertility. The interplay between thousands of genes, the epigenetic control of gene expression, as well as environmental cum lifestyle factors, that tend to influence genetic and epigenetic variants, do determine the resulting male infertility phenotype.

The highest frequency of known genetic factors contributing to male infertility (25%) is in azoospermia, but the number of identified genetic anomalies in other semen and aetiological categories is constantly growing. Genetic screening is indeed relevant for its diagnostic value, clinical decision-making, as well as appropriate genetic counseling.

In past years when it comes to male infertility treatment, molecular genetics tools have rather enabled important advances in the genetic diagnosis of male infertility. This is so mainly in the case of advances made in Y chromosome research, both for the relatively high frequency of the Yq deletions and for their effect on spermatogenesis, that have contributed considerably to improving clinical practice.

More about male infertility and genetics

Male infertility is no doubt a complex condition with a strong genetic as well as epigenetic background. This review does discuss the importance of genetic as well as epigenetic factors in the pathophysiology of male infertility. The interplay between thousands of genes, the epigenetic control of gene expression, and also environmental as well as lifestyle factors, which do influence genetic as well as epigenetic variants, determine the resulting male infertility phenotype. Presently, karyotyping, Y-chromosome micro-deletion screening, as well as CFTR gene mutation tests, are routinely done to investigate a possible genetic etiology in patients with azoospermia as well as severe oligozoospermia. Present testing is limited in its ability to identify a variety of genetic as well as epigenetic conditions that might be implicated in both idiopathic and also unexplained infertility. Several epimutations of imprinting genes along with developmental genes have been postulated to be candidate markers for male infertility. As such, the development of novel diagnostic panels is very essential to change the current landscape concerning prevention, diagnosis as well as management. Understanding the underlying genetic mechanisms related to the pathophysiology of male infertility, and also the impact of environmental exposures cum lifestyle factors on gene expression might aid clinicians in developing individualized treatment strategies

Male infertility happens to be a complex condition with a strong genetic as well as epigenetic background. 

Infertility affects about 8%–12% of couples worldwide with a male factor contributing to say 50% of couples either as a primary or contributing cause. Several genetic factors that do include single-gene as well as multiple-gene defects associated with male infertility were reported in the past two decades. Yet, the etiology does remain ambiguous in a majority of infertile men. 

Male infertility remains poorly understood at the molecular level. 

Genetic causes of male-factor infertility

While genetic factors for lower semen parameters happen to be still research-in-progress, in a few rare cases, identification of a clear genetic cause for male-factor infertility is pursued. There are rather a variety of possible genetic causes for male-factor infertility, that include cystic fibrosis, Y-chromosome micro-deletions, and Klinefelter syndrome.

The Role of Genetics in Male Infertility

Y-chromosome micro-deletions and male fertility

People are born with a set of sex chromosomes; females typically do have two X-chromosomes as well as males have one X-chromosome and one Y-chromosome. The Y-chromosome does contain between 50 and 60 genes, and since it is the male-determining chromosome, several of those genes are specific to the male sex.

For instance, there’s the SRY gene, which causes testes to form in the embryo and results in the development of male genitalia. There are other genes, such as DAZ, RBMY, and BDY, that relate to male fertility factors.

Conclusion

Male infertility cannot be neglected as it is a question of a couple’s harmonious relationship.