Scientists from the Australian National University have confirmed the earliest case of Klinefelter syndrome, a rare genetic disease, using DNA obtained from a millennial skeleton. Article published in the journal Lancet.
Klinefelter syndrome, first described in 1942, is a disease in which males have an extra X chromosome, which greatly affects the physical and intellectual development of the person. Affected men usually have reduced testicular volume, taller stature, long arms and legs, and enlarged breasts. This disease occurs in one of every 500 newborn boys.
In Portugal, a 1000-year-old skeleton was discovered in an oval-shaped tomb during excavations in the Torre Velha necropolis, where 59 tombs have been found so far. There were no additional items or coffins with the body. The skeleton lay on its back with its feet facing east, in a typical Christian burial orientation, arms crossed across its chest.
The team began by analyzing genetic information from highly degraded DNA. Despite this, scientists were able to compare it to the reference genome. They found that the buried man had an extra X chromosome. A well-preserved skeleton confirmed this: The man had large teeth, a height of 180 centimeters, and signs of a severe gum infection characteristic of Klinefelter’s syndrome.