One in every 500 guys may have an extra sex chromosome (most without knowing it)

More than 200,000 men in the United Kingdom participated in the study.

According to the findings of a recent study, as many as one in 500 males may contain an extra sex chromosome, either an X or a Y, although it is likely that relatively few of them are aware of this fact.

More than 207,000 males contributed information to the United Kingdom Biobank, a repository of genetic and health data from half a million people living there. The findings of this study were published on June 9 in the journal Genetics in Medicine. It is usual for guys to have one X-shaped sex chromosome and one Y-shaped sex chromosome in each of their cells; nevertheless, among the men who participated in the study, 213 men carried an extra X chromosome, and 143 men had an extra Y.

A tiny percentage of these males either reported having been diagnosed with a chromosomal abnormality or had such an abnormality indicated in their medical records: Only 23 per cent of the XXY men and only 0.7 per cent of the XYY men had a diagnosis, whereas 23 per cent of the XXY men had a recognized diagnosis. (According to the Genetic and Rare Diseases Information Center, the potential symptoms of carrying an extra Y chromosome can be very mild, which may help explain, at least in part, the differential in diagnostic rates.)

According to Dr Ken Ong, a pediatric endocrinologist working in the Medical Research Council (MRC) Epidemiology Unit at the University of Cambridge and a co-senior author of the paper, "We were startled at how prevalent this is." This quote was given to The Guardian by one of the researchers. "At the time, we believed it to be quite uncommon."

According to the National Human Genome Research Institute, earlier estimates suggested that approximately 100 to 200 men out of every 100,000 are XXY. Additionally, the report's authors noted that previous estimates suggested that an estimated 18 to 100 women out of every 100,000 were thought to be XYY.

In total, around 0.17 per cent of the people who participated in the study had an extra sex chromosome, equivalent to approximately one in 580 people. However, the rate observed in the study might be slightly lower than that among the general population, as the authors of the study emphasized in their report on their research findings. Volunteers at the United Kingdom Biobank tend to have better overall health than the general population and a lower-than-average incidence of hereditary diseases. This is one reason why. Based on this information, scientists have concluded that approximately one in five hundred men, or 0.2 per cent, of the overall population, carries an extra sex chromosome.

The researchers discovered that the increased risk of having additional sex chromosomes seems to manifest in the Biobank volunteers' health data. This increased risk can increase the likelihood of developing specific health disorders.

According to the National Human Genome Research Institute, a condition known as Klinefelter syndrome (KS), which describes the presence of an additional X chromosome in a male's genome, has been associated with reproductive issues such as infertility and delayed puberty. According to a release, the study's findings showed that the rate of childlessness among XXY men was four times greater than that of XY men and that they were also three times more likely to have entered puberty late than XY men.

According to the authors' findings of the study, a disease known as 47, XYY syndrome, also known as having an extra Y chromosome as a male, was not associated with an elevated risk of reproductive issues in the affected participants by it. According to the Genetic and Rare Diseases Information Center, the syndrome has been linked to other symptoms, such as learning disabilities, delays in acquiring speech and motor skills, and shallow muscle tone. These are just some of the past symptoms associated with the syndrome. The Biobank study did not focus on evaluating these symptoms in any particular way.

The investigation highlighted the possibility of a connection between more sex chromosomes and other illnesses. When compared to XY men, both XXY and XYY men had significantly higher rates of type 2 diabetes, atherosclerosis (plaque buildup in the walls of the arteries), venous thrombosis (blood clots in the veins) and pulmonary embolism (blood clots in the lung arteries), and chronic obstructive pulmonary disease (COPD), which reduces the amount of air that can reach the lungs.

"It is unknown why both KS and 47, XYY should show significant parallels in conferring substantially higher risks for numerous diseases in common," the authors said in their report. "It is unclear why both KS and 47, XYY should show striking similarities in conferring substantially higher risks." According to them, the processes driving this higher risk will need to be investigated in subsequent studies.

The participants in the study were all men of European descent between the ages of 40 and 70, which is a limitation of the study. Despite this, "our study is important because it starts from the genetics and tells us about the potential health impacts of having an extra sex chromosome in an older population," according to Anna Murray, an associate professor of human genetics at the University of Exeter Medical School and a co-senior author of the study. Murray was quoted as saying in the statement that "our study is critical because it starts from the genetics and tells us about the potential health impacts of having extra sex.

Article source : https://www.livescience.com/men-with-extra-sex-chromosomes-study

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