Prevalence in UK study twice as high as thought, putting them at higher risk of health issues
Twice as many men carry an extra sex chromosome as previously thought, according to researchers who called for more genetic testing to identify people at greater risk of related medical problems.
“We were surprised at how common this is,” said Prof Ken Ong, a paediatric endocrinologist at the MRC epidemiology unit at Cambridge and a senior author on the study. “It had been thought to be pretty rare.” Men with an additional X chromosome are often diagnosed when it has an impact on puberty and fertility, though it is also linked to higher body fat, cognitive problems and personality disorders. In the study, XXY men had substantially lower testosterone than XY men, a threefold greater risk of delayed puberty, and a fourfold higher risk of being childless. The effects of an extra Y chromosome are less well understood.
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