Advances in Genetics of Male Infertility

Genetic abnormalities are one of the major causes of male infertility. A number of genetic defects are already known, most commonly Klinefelter syndrome, chromosomal translocations, and Y chromosome microdeletions. New candidate genes were recently discovered that are related to different defects in spermatogenesis and different semen parameters’ changes. Epigenetic research, which involves studying factors that alter gene activity without changing the DNA sequences, has unraveled a lot of changes that may affect fertility, which opens the door for new targeted treatment for male infertility. Gene therapy is the future hope for severe male infertility cases. Although it is still in the experimental phase, the results are promising.