An important discovery for the treatment of male infertility

According to RCO News Agency, There are many men who wish to become fathers, but are faced with infertility due to an uncontrollable genetic disease and are in despair. For Klinefelter syndrome sufferers, this painful reality is a constant struggle.

According to the official website of “Peking University” (PKU), Professor Qiao Jie and his team at Peking University Hospital have shown why Klinefelter syndrome, a common genetic disease that affects 1 in 600 men, often leads to infertility.

This research group has identified a potential solution to treat this problem. Their research provides new information about molecular mechanisms and even suggests possible treatments.

Males with Klinefelter syndrome have an extra X chromosome. They usually lose large amounts of reproductive cells before puberty. This means they produce very little or no sperm. So far, there is no reliable treatment option for this problem. Although some of these men are now able to become fathers with advanced reproductive technologies, nearly half still struggle to find usable sperm.

This research group examined “fetal germ cells” (FGCs) obtained from men with Klinefelter syndrome. They found that the presence of an extra X chromosome causes both X chromosomes to remain active in the embryonic germ cells and increase the load of certain genes. This gene wave leads to the disruption of important biological pathways and prevents the proper maturation of cells.

In addition, the said cells cannot reach the right place in the sexual organs, which are necessary for them to become mature and sperm-producing cells. With abnormal gene activity and impaired motility, these cells die before becoming functional sperm.

The researchers found that the use of TGF-β inhibitors could help the normal maturation of embryonic germ cells and lead to possible treatments for infertility in men with Klinefelter syndrome.

This research was published in “Nature Cells” magazine.

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