Ancient DNA From A Medieval Skeleton Reveals Klinefelter Syndrome

Teresa Breaux | Last Updated : September 1, 2022

In Portugal, archaeologists and historians have dug the earth to discover a skeleton. This skeleton belongs to a man who lived more than 1000 years ago. This man was 1.8 m tall and was considered to be the tallest man in history. But an exciting feature has been discovered from the DNA analysis of the skeleton. The skeleton’s bones have been tested to discover that this man was born with a genetic condition known as Klinefelter syndrome. Not only this but also as for the syndrome, that person also had an extra X chromosome. 

DNA From Medieval Skeleton Reveals XXY Chromosome Condition, Klinefelter Syndrome

It was sighted because he was taller than most of the skeletons found in his region, belonging to the same age group. It is essential to understand that this problem usually has a yearly probability of 0.02% in the male population.

Ancient DNA From A Medieval Skeleton Reveals Klinefelter Syndrome

This study has been published in the famous journal Lancet. The famous biologist from the University of Michigan undertook this research under his leadership.

The first and the earliest case of Klinefelter syndrome has been discovered with the help of the constant research that has been undertaken. 

Location of the skeleton

This skeleton has been excavated from the mountaineer’s archaeological site of notes Eastern Portugal. This place is known as Torre Velha. This particular kind of skeleton was excavated in the year of 2012. After finding out the exceptional height of the skeletons, historians evaluated the average height of all the skeletons discovered in the area. 

The intention is to discover if that skeleton was an exception or if every male in that area had this height. According to the discovery, this particular skeleton was an exception after the DNA analysis. This exception was caused due to the prevalence of an extra chromosome that led to the personality being affected by Klinefelter syndrome. It is reported to be the most ancient case and may be the first case of this syndrome. 

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Occurrence of syndrome

According to natural Biology, only two types of chromosomes are discovered in the human body, which can either be XX for female or XY for male. But this particular skeleton has discovered the prevalence of XXY chromosomes in the human body. It has been responsible for causing Klinefelter syndrome. It usually happens when the human egg and the sperm contain an extra chromosome. It was only because of the syndrome that the man was unexceptionally tall, and his height was much more than the average height of the people in that location belonging to the same age group and gender. 

Not only this but also some other kind of peculiar features such as broader hips and distorted shape of the teeth were also discovered. Additional analysis is now being conducted to find other internal differences in the body’s functioning based on the DNA that has been stored in it. All the researchers have been advised to preserve the DNA in frozen compartments for subjecting the skeleton to additional research. 


It has to be concluded that DNA is considered the most significant source of information that can help conduct future research. It was only with the help of this stored DNA that, even after so many years, analysis was helpful to discover the first case of a unique kind of syndrome. In such a situation, it has to be set that this is one of the most essential and valuable perspectives that must be considered. Preservation of this DNA in required climatic and atmospheric conditions is essential in proving the efficacy of the result.


🔵Mayo Clinic (1998-2022) Klinefelter syndrome (Available Online):

🔵WebMD(2005-2022) Klinefelter Syndrome (XXY Syndrome) (Available Online):

Teresa Breaux

Teresa Breaux is a renowned health practitioner who serves as a social worker. She expertized in treating eating disorders and focuses mainly on family-based treatments. Apart from working as a health practitioner, she even provides public awareness through her writings and blogs. Her content includes methods by which you can make delicious and healthy recipes. She is so passionate about writing, especially on issues with eating habits and the importance of eating healthy. If you are someone who loves healthy tips to make your life better, then you must have run across her blogs. You can visit her website and even follow her on social media platforms like Twitter and Instagram.

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