Akhenaten’s mystery remains
To the Editor: An unsolved mystery in the history of ancient Egypt is whether or not a familial disease was present among royal members of the 18th dynasty of the New Kingdom, which ruled from the mid-16th to the early 11th centuries BC. The notion of a genetic disorder within this royal family originates mainly from sculptures and reliefs of Akhenaten and his family, which depict an elongated head, face and extremities, and undeveloped thorax with gynaecomastia.
I read with interest the paper by Retief and Cilliers1 that discusses various diagnoses to explain the unusual form of Akhenaten’s body. Based on feminine characteristics outlined in sculptures, the authors suggest that either Kallmann’s or fertile eunuch syndromes were the underlying disease affecting Akhenaten. They note that the discovery of Akhenaten’s mummy would help to solve the puzzle.
I appreciate the authors’ reasoning; however, they appear to have been unaware of the discovery of Akhenaten’s mummy in the last year. Using a biochemical, radiological and molecular assay of 11 royal mummies from the 18th dynasty, Hawass et al. searched for pathological disorders, and inherited and infectious diseases, among the royal family.2 They could clarify Tutankhamun’s lineage: according to their discovery, the KV55 mummy was the father of Tutankhamun and was most likely the enigmatic Akhenaten. Their findings also dispute any feminised appearance in Akhenaten; computed tomography reconstruction of Akhenaten’s pelvic bones did not show any feminine features. The presence of gynaecomastia could not be established since the anterior chest wall of Akhenaten’s mummy was not available. Similarly, Tutankhamun did not have any prominent feminine features. Therefore, the presence of a feminised body in this family is doubtful, and the peculiar representation of Akhenaten and his family in statues and drawings could have been attributed to an artistic style subsequent to Akhenaten’s reforms, involving religious, social and cultural aspects of Egyptian life.
On the other hand, patients affected by Kallmann’s or fertile eunuch syndromes have decreased libido secondary to hypogonadism, but Akhenaten had several wives and children. It is also very unlikely that he suffered from hearing loss or blindness, as papyruses have described.
Although the findings of Hawass et al. revealed a cleft palate in Akhenaten’s mummy, Retief and Cilliers contested its presence. Furthermore, data obtained from these 11 mummies showed several repeated malformations that cannot be accredited to Kallmann’s or fertile eunuch syndromes.
Finally, I must confess that despite these interesting findings, there must be another syndrome that can prompt this collection of malformations in the royal family. Further genetic investigations on the remains of mummies seem necessary to make a definitive diagnosis.
Department of Internal Medicine
Shiraz University of Medical Science
1. Retief FP, Cilliers L. Akhenaten: a unique pharaoh. S Afr Med J 2011;101(9):4459.
2. Hawass Z, Gad YZ, Ismail S et al. Ancestry and pathology in King Tutankhamun’s Family. JAMA 2010;303(7):638-647.
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