At least one in five cases of infertility remains unexplained. Male factors contribute to about half of these cases and, much of the time, men lack a specific causal diagnosis for their infertility. Researchers estimate that genetics could explain up to 50 percent of these cases, but many of the genes involved in male infertility remain unknown. A new study led by investigators at Brigham and Women’s Hospital identifies a genetic abnormality that may be at fault.
Investigators have found that a genetic rearrangement and variants affecting a gene known as SYCP2 are associated with low sperm count and report the first cases implicating the gene in four men with infertility. The team’s findings are published in the American Journal of Human Genetics.
We hope that our evidence will contribute to this gene being in panels for diagnosis of male infertility,” said corresponding author Cynthia Morton, PhD, medical geneticist at the Brigham. “Infertility is a big problem for young people, and 40 to 72 percent of men lack a diagnosis. This means that we have a lot of gene finding to do.”
Morton notes that while the discoveries about SYCP2 may help inform diagnosis, implications for treatment remain to be determined. “A diagnosis can be therapeutic in itself — even if there isn’t something that can be done to correct it. It ends the search for the underlying issue and opens the door for enrolling in clinical trials,” she said. “And I believe there is good reason to be optimistic; we now have better tools for discovery and can begin on the path toward therapy.”