n South African Medical Journal - Akhenaten, a unique pharaoh : correspondence

Volume 102, Issue 2
  • ISSN : 0256-9574
  • E-ISSN: 2078-5135



Retief and Cilliers suggest an interesting new theory about Akhenaten's physical appearance, but omitted to refer to previously suggested differential diagnoses: for example, schistosomiasis, myotonic dystrophy, elephantiasis and Antley-Bixler syndrome have also been suggested. More recently, we proposed homocystinuria as a possible cause. Since Kallman's syndrome is a hereditary disease, it is important to see how this diagnosis fits into Akhenaten's family tree. The fact that Akhenaten's wife, Nefertiti, and their children were similarly depicted implies that they suffered from the same disease. Akhenaten's parents, Amenhotep III and Tiye, were most probably healthy. The genetics of Kallman syndrome are still not fully understood. However, two of the best-described forms of Kallman syndrome are inherited autosomal dominant and X-linked disorder.

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