Discovery in Portugal of the oldest case of Klinefelter syndrome

Klinefelter syndrome is a rare genetic disorder that results in the presence of an extra X sex chromosome in genetically male individuals. In the archaeological context, a few presumed cases would have been detected – such as the Finnish warrior of Suontaka Vesitorninmäki – based on the analysis of genetic material alone. A study recently published in The Lancet brings new elements to diagnose Klinefelter’s syndrome on even more substantiated bases, since it combines for the first time three types of examinations: genetic, but also morphological and osteological. The international team of researchers, coordinated by the Portuguese geneticist João C. Teixeira, currently posted at the Australian National University in Canberra, has thus identified the presence of an additional X chromosome in a man who lived in Braganza, in the northeast of Portugal about a thousand years ago. The development of a new method for determining genetic characteristics within the framework of this study could in the future serve as a basis for identifying genetic diseases in other contexts where DNA is fragile or degraded, such as medical investigations. legal or prenatal diagnosis.

A genetic anomaly, the Klinefelter syndrome, would have been identified in a man of the Middle Ages

The individual studied by the international team bringing together archaeologists, anthropologists, geneticists and statisticians was buried at the archaeological site of Torre Velha, a necropolis excavated between 2012 and 2015 by researchers from the University of Coimbra. Located in the suburbs of the city of Bragança, Torre Velha is now considered one of the most remarkable places in the region of Trás-os-Montes, in the northeast of Portugal. So far, 59 burials have been unearthed there – mainly individual graves, but also ossuaries grouping together several individuals. They were dug directly into the shale rock, “which is typical of medieval sites in Iberia“, reveals the study; carbon-14 dating indeed indicates that the burials took place between the 6th and 13th centuries of our era.
The individual who caught the researchers’ attention would have been buried between the 11th and 12th centuries, the dating by mass spectrometer authorizing a margin of between 1020 and 1160 AD. He was placed in an oval-shaped tomb, write the researchers, who found neither lid nor funerary furniture. His burial in a lying position, with his arms crossed on his chest and oriented west-east corresponds to Christian custom.

The man was buried with his arms folded across his chest. © João C. Teixeira et al. / The Lancet

An extra X chromosome

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