The oldest clinical case of Klinefelter Syndrome has been detected in a 1,000-year-old Portuguese skeleton. Klinefelter Syndrome is a super rare genetic but non-hereditary condition that gives men an extra X chromosome (also called the “47,XXY” syndrome). The genetic condition was found in an 11th-century skeleton found in northeastern Portugal.
The primary effects of Klinefelter Syndrome are infertility, little or no sperm production, and small, dysfunctional testicles. It is reported to occur in every 1,000 live genetic male births and can adversely impact motor skills and mental development.
The skull featured syndrome symptoms like larger than average teeth, and a debilitating gum condition that had taken over the soft tissue in his mouth.
He was found in an individual oval-shaped tomb, without a cover or any burial goods, buried in the supine position, with arms crossed over the chest. The grave was aligned in the typical west-east orientation of Christian burials.
Associate Professor Bastien Llamas, Head of Molecular Anthropology at the Australian Center for Ancient DNA, said, “In recent years, ancient DNA helped rewrite the history of worldwide human populations. Our study demonstrates it is now a valuable resource for biomedical research and the growing field of evolutionary medicine.”
