Egyptian doctor thinks Akhenaten Suffered From hyper-pituitarism rather than Marfan's Syndrome

A history resource article by Mary Harrsch © 2015

A sculpture of Akhenaten at the Neues Museum in Berlin.
Image courtesy of Miguel Hermoso Cuesta via
Wikimedia Commons.

The so-called heretic pharaoh, Akhenaten, has fascinated both Egyptologists and the medical community for decades since the discovery of his lost city of Amarna in the late 19th century. Although a mummy was found in a tomb identified as belonging to the enigmatic pharaoh in 1907 (KV55), this identification has been called into question by a number of forensic and medical professionals. 

In his article, "A 3300-year-old medical mystery: What disease was Akhen-aton Suffering From?", Dr. Sameh M. Arab, a professor of cardiology at Alexandria University in Egypt, attempts to deduce the cause of the strangely shaped features of the 18th dynasty pharaoh as depicted in art that has been recovered from the Amarna site while taking into account the forensic evidence presented by the KV55 mummy.  What follows is an abstract of his key points:

"...[Akhenaten's] odd features could not be simply attributed to his foreign descent (Asian blood) from his maternal side. His undue tall stature and feminine-like appearance has raised suspicion that he was suffering from a certain medical syndrome."

"Mariette, the famous French Egyptologist argued that Akhen-Aton was castrated, but
such claim was rejected. He was known to have 6 daughters (and possibly at least one son, his successor, Smenkh-Ka-Ra, from a secondary wife Kiya)."

"The striking features found from the study of his statues, pictures as well as his
mummy (if it were truly his) were those of tall stature, unduly long limbs, elongated skull, long slender neck and long face with a huge mandible (lower jaw)." 

A colossal statue of
Pharaoh Akhenaten
from Karnak.  Image
courtesy of Wikimedia.

"In addition, his feminine features included gynaecomastia (female-like breasts) and a
wide pelvis with fat hips (the breadth of the pelvis exceeds that of the shoulders – a characteristic feature of females). A nude statue during his early reign showed him without genitalia at all. Moreover, he showed a redundant belly in all his pictures."

"Studies of the assumed mummy and specifically the ossification of bony epiphyses (union between the bone shaft and its both ends) have concluded a “bony age” of 26 years (according to Prof. Eliot Smith) or 23 years (Prof. Derry). This age does not match his [Akhenaten's] chronological age as estimated by Egyptologists and historians, which was 37 – 40 years at his death or disappearance." 

Such discrepancy obviously [could be explained] by delayed bony ossification, a condition known in medicine to be due to retarded sexual gland activity." 

But, Arab admits that relying on the physical attributes of a questionable mummy is problematic.

[DNA analysis in 2010 points to discrepancies as analyzed by Kate Phizackerley in her article "DNA Shows that KV55 Mummy Probably Not Akhenaten"]

In 1907, Prof. Eliot Smith also claimed the KV55 mummy indicated a slight hydrocephalus (fluid accumulating inside the brain cavity) and epilepsy. 

"Careful study of the skull has negated the presence of any hydrocephaly. In addition, epilepsy is known to leave no pathological marks on the skull. It is diagnosed in the living by measuring the electrical impulses from the brain. Such claims would certainly be untrue, observes Arab.

Skull from mummy found in KV55.  Image courtesy of
Wikimedia Commons.

Study of depictions of the pharaoh throughout different stages of his life have proved helpful, though. 

"His early reliefs do not show any deformity, while the later ones do. This denotes a disease presenting later in life, at least not during childhood or adolescence," Arab observes.

Several diagnoses were suggested.  The earliest proposed was Florisch's syndrome. 

Florisch's syndrome, a disease caused by diminished secretion of the pituitary gland occurring before puberty or a tumor of the pituitary gland after puberty. The syndrome is characterized by retarded puberty, hypogonadism (diminished sexual activity) and feminine-like fat distribution (thighs, hips and breasts) as depicted in some representations of Akhenaten.  However, it is also associate with dwarfism (if occurs before puberty) and obesity but normal stature if it occurs after puberty.  Akhenaten was described as tall (not dwarfed) and not depicted as obese.

Other suggestions included Marfan's and Kleinfilter's syndromes as well as pituitary gland dysfunction. 

"Klienfilter's syndrome could be ruled out as well," Arab states, "Despite the abnormal skeletal features of the disease that resemble Akhen-Aton's condition, as well as gynaecomastia and small testes, two characteristic features of the disease are inconsistent. Akhen-Aton was neither obese nor infertile. Egyptologists give hard evidence that he had had children."

Fragmentary relief depicting
either a pathogenic condition
or simply stylized portrait of
the pharaoh Akhenaten.

"Marfan's syndrome, [however], could not be [immediately] ruled out. [However,]though the skeletal anomalies are suggestive, there is no evidence of any cardiovascular or eye manifestations [characteristic of this condition] to support this likelihood, even if the mummy found was his. It was a tradition to remove the eye during the process of embalming [so examination of the eyes would not be possible]. Moreover, the feminine-like manifestation would still remain unexplained."

"The most likely diagnosis of Akhen-Aton's disease is hyper-pituitarism. All bony abnormalities seem to favor such diagnosis, together with the sexual ones. A late onset of acromegaly or delayed hypo-gonadism sound to be most descriptive for his illness."

"Further studies of the mummies and pictures of Akhen-Aton's family might be an additive. The mummy of his grandfather Yoya (maternal side) shows a tall man with thick lips and large nose. The mummies of his two successors Smenkh-Ka-Ra and Tut-Ankh-Aton (Tut-Ankh-Amon) also show large skulls. Both are thought by some Egyptologists to be his sons from a secondary wife, Kiya. The early death of a younger brother at young age should also be kept in consideration."

"All reliefs of Akhen-Aton's family show that this large elongated skull was a common feature among his daughters, and his wife Nefertiti as well. This has led some scholars to believe that this skull feature has become a model of Egyptian art during this time. Nefertiti, the six princesses and all the court as well were so depicted as [possibly] a compliment to Akhen-Aton" [who may have indeed exhibited the actual physical characteristics depicted]. 

House altar relief of Nefertiti with her
daughters, Meketaten and Ankhesenpaaten.
Courtesy of Wikimedia Commons.

If this suggestion is untrue, then the possibility of a hereditary disease - rather than an acquired one - is very likely. - More, Sameh M. Arab. MD.