King Tutankhamun, Modern Medical Science, and the Expanding Boundaries of Historical Inquiry

Tutankhamun, better known as King Tut, ruled ancient Egypt from 1333 to 1324 BC, during the 18th dynasty (circa 1550-1295 BC) of ancient Egypt's New Kingdom (circa 1550-1070 BC). His brief reign, youthful visage, and premature death, as well as the rediscovery of his remains and tomb in 1922, have fascinated Egyptologists and other historians alike for decades.

Over the years, many scholars have offered a wide variety of explanations for his early demise as well as the seemingly androgynous appearance of his face and gynecomastia portrayed in sculptures and other relics. These diagnoses have included Marfan syndrome, Wilson-Turner X-linked mental retardation syndrome, Fröhlich syndrome (adiposogenital dystrophy), Klinefelter syndrome, androgen insensitivity syndrome, aromatase excess syndrome in conjunction with sagittal craniosynostosis syndrome, and Antley-Bixler syndrome or one of its variants.^{1 - 4}

After a series of radiographs taken of Tutankhamun's mummy in 1968 suggested signs of trauma to the back of the head and an unhealed broken leg, armchair pathologists began suggesting that Tutankhamun's death was caused by his falling from a chariot, getting kicked in the head by a large beast, septicemia or fat embolism secondary to a femur fracture, or, most sensationally, being murdered by either a blow to the back of the head or poisoning.^{5 - 11}

More recently, an advertisement with the headline “Murder of King Tut Solved” in the October 1, 2009, issue of USA Today announced a new book by a best-selling mystery writer and a historian.¹² Echoing the theories of many others, these authors suggest that the boy pharaoh married his younger sister, Ankhensenamun to produce a male child. The marriage produced no heirs but inspired an imaginative plot—specifically, the queen, a villainous general, and an evil advisor murdered Tutankhamun so they could assume control of the kingdom.¹³

Such diverse musings serve as proof of the most enjoyable aspect of retrospective diagnoses: there is always room for debate and, in the face of no definitive evidence, room for new theories and claims. But as Hawass and colleagues¹⁴ demonstrate in their study of King Tutankhamun's family in this issue of JAMA, the legion of Tutankhamun admirers might be well advised to reconsider several existing theories.

Between September 2007 and October 2009, Hawass et al,¹⁴ from Egypt, Germany, and Italy, independently examined 11 royal mummies believed to be from King Tutankhamun's immediate lineage (circa 1410 to 1324 BC) and another 5 royal mummies from an earlier period (circa 1550-1479 BC). The objective was to determine the familial relationship of these royal family members and test the mummies for evidence of murder, genetic disorders, and infectious diseases. Unlike the previous hypotheses about Tutankhamun's death and medical history, this investigation was based on unfettered access to the actual mummies.

Using partial Y-chromosomal information, Hawass et al constructed the most plausible 5-generation pedigree to date, whereby Yuya and Thuya are established as the great-grandparents of Tutankhamun; Pharaoh Amenhotep III and KV35 elder lady (Queen Tiye) are his grandparents; and KV55 male (most likely Akhenaten) and KV35 younger lady are siblings as well as Tutankhamun's parents.

Settling the question of Tutankhamun's supposed gynecomastia is not possible, because most of the mummy's chest wall is missing. It is also difficult to assess such abnormalities among the other males in the study because of the mummification process. Nevertheless, the morphological and radiological examinations did not reveal evidence of a feminine physique, leading the authors to suggest that the artistic or “beautified” style of artifacts and portraits of Tutankhamun's era may have left behind the wrong impression for 20th- and 21st-century observers.

Although no evidence was found to confirm a diagnosis of either Marfan or Antley-Bixler syndromes, Tutankhamun did have juvenile aseptic bone necrosis of the left second and third metatarsals, which may be consistent with Köhler disease II or Freiberg-Köhler syndrome. Moreover, this orthopedic disease process appears to have been flourishing at the time of his death. Perhaps most interesting was the DNA evidence of Plasmodium falciparum in many of the royal mummies—including Tutankhamun’s. Indeed, this finding constitutes the oldest genetic proof of malaria in well-dated mummies. On the other hand, no evidence of bubonic plague, tuberculosis, leprosy, or leishmaniasis was found.

Given this historical autopsy, the authors suggest that Tutankhamun had several inherited disorders that led to an inflammatory, immunosuppressive, and constitutionally weakening condition. Death, they assert, was not attributable to foul play; rather, a sudden fracture of the leg (perhaps resulting from a fall) progressed to a life-threatening condition because of his malarial infection.

The use of radiography, DNA technology, and other modern scientific tools to better elucidate the historical record has been progressing rapidly for many years. For example, in 1998, Foster et al,¹⁵ using specimens obtained from descendents of both Thomas Jefferson and his slave, Sally Hemings, presented provocative DNA evidence that Jefferson may have fathered at least 1 child with Hemings. Similarly, the use of viral samples extracted by Taubenberger et al¹⁶ from persons who died from influenza during the pandemic of 1918 helped elucidate the precise genetic characterization of that virus as well as a better understanding of several influenza strains that threaten society today. These studies were conducted with either full consent (the Jefferson study) or using specimens donated to a central laboratory for scientific purposes (the influenza study). With meticulous attention and respect for the dead, Hawass et al¹⁴ studied mummies (and antiquities) discovered millennia after the subjects' demise.

Moving forward, what is less clear is the development of ethical guidelines with which to conduct subsequent DNA, genetic, radiological, and other medical inquiries into human history. What will the rules be for exhuming bodies to solve vexing pathological puzzles? Are major historical figures entitled to the same privacy rules that private citizens enjoy even after death? Most pragmatically, what is actually gained from such studies? Will they change current thinking about and prevent threatening diseases such as influenza? Will they change the understanding of the past, such as the Jefferson study's powerful elucidation of intimacy during the era of slavery and the Tutankhamun study's window on the conduct of the royal family of Egypt?

All historians are guilty of enjoying reading the mail and personal materials of others. Yet before disturbing the dead with the penetrating wonders of 21st-century medical science, it is essential to follow the lead of these authors by pondering all the ethical implications of such inquiries to avoid opening a historical Pandora's box.