Research on more than 200,000 men enrolled in the UK Biobank suggests that about one in 500 men in the general population has an extra X or Y chromosome, double the number found in previous work, although only a small portion of they are probably aware of this.
While most men have an X chromosome and a Y chromosome, some are born XXY or XYY, which puts them at increased risk for health problems, from type 2 diabetes to blocked blood vessels and obstructive pulmonary disease. (COPD), a lung condition, the study found, according to The Guardian.
“We were surprised at how common this is.”, said Professor Ken Ong, a pediatric endocrinologist at the MRC Epidemiology Unit in Cambridge and lead author of the study. “It was thought to be quite rare. “
Working with colleagues at the University of Exeter, the Cambridge team examined the DNA of 207,067 men of European descent between the ages of 40 and 70. They identified 231 men with an extra X chromosome and 143 men with an extra Y chromosome. Those enrolled in the UK Biobank tend to be healthier than average, but researchers estimate that 1 in 500 men in the general population has an extra X or Y chromosome.
Of the men identified in the study, published in Genetics in Medicine, only 23% of those with XXY chromosomes and 0.7% of those with XYY chromosomes had a known diagnosis of extra chromosome, suggesting that this condition was little known.
Men with an extra X chromosome are often diagnosed when it has an impact on puberty and fertility, although it is also linked to higher body fat, cognitive problems and personality disorders. In the study, men with XXY chromosomes had substantially lower testosterone levels than men with XY chromosomes, a three times higher risk of delayed puberty and a four times higher risk of losing children. The effects of an extra Y chromosome are less well known. XYY males tend to be taller than boys and adults, but appear to have normal reproductive function.
The analysis of men’s health records found that wearing one of the extra sex chromosomes increased the risk of several medical conditions. Compared to XY men, wearing an extra sex chromosome tripled the risk of type 2 diabetes and blood vessel blockage in the lungs, quadrupled the risk of COPD, and increased the risk of blocked veins sixfold, the researchers found. It is not clear why extra chromosomes have such an impact and why it is similar regardless of which chromosome is duplicated.
“We should do more genetic testing, especially for late puberty and infertility, as well as some men with diabetes and clotting problems.“The NGO said. “Some of these conditions require genetic testing, but doctors are probably not looking for that. We need to encourage more extensive genetic testing when patients come down with these conditions. “
Previous research suggests that about 1 in 1,000 women wear an extra X chromosome, which can lead to similar effects, from faster growth to puberty, delayed language development, and reduced IQ compared to those in their 20s.
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