Genomics: Tool to predict and prevent male infertility

Area of Science:

• Human Genetics
• Reproductive Medicine
• Genomic Medicine

Background:

• Genetic abnormalities are a significant cause of human diseases, including male infertility.
• Improved molecular biology techniques are increasingly identifying genetic factors contributing to male infertility.
• Chromosomal abnormalities, Yq microdeletions, and cystic fibrosis account for about 30% of male infertility cases, with 40% remaining idiopathic and potentially linked to genetic/genomic factors.

Purpose of the Study:

• To review current knowledge on genetic etiologies of male infertility.
• To discuss reproductive technologies for overcoming male infertility.
• To explore the prevention of genetic disorder transmission during assisted reproduction and future genomic applications.

Main Methods:

• Literature review of published works on genetic causes of male infertility.
• Analysis of genetic and genomic abnormalities associated with male infertility.
• Discussion of assisted reproductive technologies and genetic counseling.

Main Results:

• Genetic factors, including chromosomal abnormalities and Yq microdeletions, are established causes of male infertility.
• Increasingly, novel genes are being identified, reducing the prevalence of idiopathic male infertility.
• Reproductive technologies can overcome infertility but carry risks of transmitting genetic disorders.

Conclusions:

• Genetic factors play a crucial role in male infertility, necessitating comprehensive genetic evaluation.
• Assisted reproduction requires careful consideration of genetic risks and preventative strategies.
• Genomic information holds promise for the future prediction and prevention of male infertility.