One in 500 Men Has an Extra Sex Chromosome Which Puts Them at Risk for Diabetes, Pulmonary Embolism, and COPD

The XX or XY chromosomes determine an individual’s sex, but a significant proportion of men may have an extra one. XXY or XYY males are prone to various health problems, according to a recent study from Cambridge University.

Klinefelter Syndrome

Klinefelter Syndrome

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Human genetic inheritance is condensed into 23 pairs of chromosomes, one of which is responsible for sex: XX for women and XY for men. But a significant proportion of men have a chromosomal abnormality, according to researchers at Cambridge University.

After analyzing medical data from the UK’s BioBank, they showed that about one in 500 men has an extra X or Y sex chromosome! So these men don’t have 46 chromosomes, but 47, with an XXY or XYY sex signature. Without karyotyping, this abnormality often goes undetected. Only 23% of the 47XXY men in this study were aware of its existence, and 0.7% of the 47XYY men. However, Cambridge scientists have shown that this extra chromosome may favor certain health problems.

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An extra sex chromosome can lead to certain diseases

47XXY males can sometimes be diagnosed at puberty. This abnormality is known as Klinefelter syndrome and tends to delay puberty in teenagers and cause infertility problems in adults. Males with 47XYY tend to be taller than average, but otherwise, there is no evidence that they suffer from the disorder.

“Although a significant number of men carry an extra sex chromosome, probably very few are aware of it. However, this extra chromosome means they are at significantly higher risk of suffering from a range of common respiratory, vascular and metabolic diseases that can be prevented,” explains Yajie Zhao, first author of the study.
By linking their chromosomal peculiarities to the health problems that the 356 men, aged between 40 and 70, developed during follow-up, the scientists were able to show that the XXY and XYY phenotypes increase the risk of type 2 diabetes, pulmonary embolism, and chronic obstructive pulmonary disease, also known as COPD. A genetic test can reveal the abnormality “quite easily”, says Ken Ong, a scientist on the same research team. This could become a risk factor to be taken into account in the medical follow-up of affected patients.

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One in 500 men carry extra sex chromosome, putting them at higher risk of several common diseases

Detection and characterization of male sex chromosome abnormalities in the UK Biobank study



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