New research has revealed a significant genetic connection between male infertility and cancer predisposition. A study conducted by the University of Tartu in Estonia found that men experiencing reproductive issues are five times more likely to carry genetic variants associated with cancer compared to those with normal fertility.
Male infertility, defined as the inability to conceive after a year of unprotected intercourse, can stem from various causes, including low sperm count, blockages, injury, or genetic disorders like cystic fibrosis. In the U.S., approximately one in ten men face fertility challenges, and globally, sperm counts have declined by 50% over the past five decades.
Previous studies had already linked infertility to a higher cancer risk, including among close relatives, suggesting a hereditary component. This latest study, published in Human Reproduction Open, analyzed genetic data from 500 men with unexplained infertility. The results were striking: one in every 15 infertile men carried a hereditary cancer risk variant, compared to just one in 64 among fertile men.
“These findings indicate that the increased cancer risk in infertile men is not just a coincidence but rather a result of an underlying genetic predisposition,” said Dr. Anu Valkna, lead author and chair of Human Genetics at the University of Tartu.
Additionally, researchers found that a family history of cancer further increased the likelihood of developing the disease, reinforcing the hypothesis of a genetic link within these families.
The study’s implications are crucial for early detection and prevention strategies. Since men often seek fertility treatment at a younger age—before any potential cancer diagnosis—identifying genetic risks early could allow for proactive monitoring and timely medical intervention.
“This research could have far-reaching benefits beyond male infertility,” Valkna noted. “Some hereditary cancer syndromes disproportionately affect female family members, so identifying at-risk men may also help protect their relatives by facilitating early screenings and preventive care.”
With infertility emerging as a potential early warning sign for hereditary cancer, experts suggest that genetic testing should become a key component of fertility evaluations, potentially improving outcomes for both men and their families.
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