Archaeologists have made a remarkable discovery – the first known case of Turner syndrome in the ancient world. Analyzing DNA from a 1,500 year old infant’s remains found in England, researchers identified the congenital disorder that affects gender development. The findings provide new insights into perceptions of biological sex in the past.
Infant Skeleton Unearths Rare Chromosomal Disorder
The infant’s remains were uncovered in 2018 at a 5th-6th century CE cemetery in North Yorkshire, northern England. Alongside the skeleton of a child estimated to be between 4-6 years old, archaeologists found an abnormality – the younger infant had an extra rib.
Further analysis revealed the infant likely had Turner syndrome, a chromosomal disorder where females are born with a missing X chromosome. The syndrome causes a range of physical differences and nearly all cases result in infertility.
Using a new technique to identify genetic disorders from ancient DNA, the researchers made the historic discovery. It represents the earliest known evidence of Turner syndrome worldwide.
“The infant from North Yorkshire has added nuance to our understanding. Not only do we now have the earliest case of Turner syndrome to date, we have the context of how a difference in development may have been viewed by past societies,” said study author Dr Martin Carr.
Rare Disorder Affects Gender Development
Turner syndrome is caused by a missing X chromosome in females, who would normally have two. Around 1 in 2,500 girls are born with the syndrome.
The disorder results in short stature, hair loss, heart defects and infertility, caused by problems with sexual development. As Dr Carr explained:
“Turner syndrome leads to differences in height, sexual characteristics and fertility. Today it is often diagnosed prenatally or in early childhood, but how might it have been viewed in the past?”
Understanding historical perceptions of Turner syndrome could reveal how societies have viewed biological sex and gender identity over time.
The researchers found no evidence for mistreatment of the infant. Buried in a cemetery among other individuals, the remains show care and attention after death.
New Method Detects Ancient Genetic Disorders
It was advances in DNA analysis that enabled the identification of this earliest known case of Turner syndrome worldwide.
The researchers developed a new computational technique to systematically search ancient genomes for large deletions on sex chromosomes. Lead author Yarin Sanders explained:
“We searched across many ancient genomes for differences in the number of X chromosomes to uncover genetic disorders lost to time…Finding an early case of Turner syndrome demonstrates the promise of this approach to uncover diversity in the past”
|Females born with a missing X chromosome
|Males born with an extra X chromosome
The method detected another individual, a male buried in Iron Age Italy, with Klinefelter syndrome – where males have an extra X chromosome.
Sanders said the computational screening technique could be applied to ancient DNA from other time periods and geographies, likely uncovering more diversity in the past.
“As more ancient genomes become available, we will continue searching across space and time to recover forgotten stories encoded in ancient molecules.”
Window Into Perceptions of Sex in The Past
Uncovering evidence of Turner syndrome from 1,500 years ago provides insights into how gender differences may have been perceived by past societies.
Co-researcher Ben Copsey noted the remains indicate care and respect for the infant with visible differences:
“Archaeogenomic techniques allow us to not only identify conditions invisible to the skeleton, but also begin pondering how genetic differences in growth and development were viewed.”
Understanding historical perceptions of disorders of sex development could reveal how concepts of gender have evolved through time.
Dr Carr explained the findings open up questions around acceptance of diversity in the past:
“This research leads us to question how biological sex may have been perceived across time. Evidencing an infant with differences in growth and development raises themes of care and acceptance in society.”
Ongoing Research To Uncover More Unique Histories
This discovery of the earliest known case of Turner syndrome represents a breakthrough for the emerging field of paleogenomics – using ancient DNA to understand our ancestral history.
Researchers will continue developing computational techniques to systematically search old genomes for genetic disorders. sanders said:
“This approach leverages existing data to uncover forgotten stories encoded in molecules extracted from ancient bones – with the potential to discover more diversity and unique life histories across thousands of genomes generated today and in the future.”
As more evidence comes to light of chromosomal disorders and diversity in growth from history, researchers hope to build a picture of societal perceptions of biological differences through time.
Uncovering unique cases like Turner syndrome provides insights into our collective past. The researchers hope further breakthroughs will continue revealing forgotten stories while raising questions around historical concepts of sex and gender.
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