AN ancient skeleton with a super rare genetic condition that causes tiny testicles has been dug up by archaeologists – becoming the oldest case of the syndrome.
The 1,000-year-old buried man had Klinefelter Syndrome which gives men an extra X chromosome.
Men with Klinefelter’s have small, poorly functioning testicles and are likely to be infertile.
They are also taller than average with longer legs, shorter torsos and broader hips than other boys.
American Founding Father George Washington is said to have been a carrier.
Boffins at the University of Coimbra said digging up the unknown skeleton to find he had the genetic condition was “exciting”.
In modern day, it affects one in 1,000 males.
Study lead Dr João Teixeira said: “We were immediately excited the first time we looked at the results.
“However, ancient DNA is often degraded and of low quality and abundance, meaning we were initially cautious.
“Our research shows the immense potential of combining different lines of evidence to study the human past, and the frequency of different health conditions through time.”
Dr Teixeira and his team hope the findings will help establish a historic record for Klinefelter Syndrome.
They also want to learn more about its prevalence throughout human history.
Other celebrities with Klinefelter’s include James Bond actor Caroline Cossey who was born a male.
University of Coimbra boffins began by analysing the skeleton’s genetic information and they radiocarbon dated him to the 11th century.
Given its well preserved state, they were able to determine physical traits in the skeleton compatible with Klinefelter Syndrome.
Dr Teixeira noted: “Given the fragile state of the DNA, we developed a new statistical method that could take into account the characteristics of ancient DNA.
“While the study offers compelling evidence for the genetic history of Klinefelter Syndrome, no sociological implications can be drawn from this diagnosis.”
Going forward, Dr Teixeira and his team hope their method of analysis will be used to study different chromosomal abnormalities in other archaeological specimens, such as Down Syndrome.
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