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2008-09 Medical Alumni Board Ronald Goldner, ’65 President Martin I. Passen, ’90 President-Elect Otha Myles, ’98 Vice President Nelson H. Goldberg, ’73 Treasurer Tamara Burgunder, ’00 Secretary Protagoras Cutchis, ’83 Margaret A. Flowers, ’90 Josh Forman, ’01 Charlotte M. Jones-Burton, ’99 Alan R. Malouf, ’85 Joseph P. Martinez, ’98 Jerome Ross, ’60 Elizabeth Tso, ’79 Katherine N. Wex, ’00 Directors |
By Bill Seiler |
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Akhenaten Suffered from Familial Gynecomastia, Craniosynostosis
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Akhenaten, a pharaoh during Egypt’s 18th Dynasty—best known for transforming Egypt’s religious system from worship of multiple gods to the worship of one god—may have had two medical abnormalities that could explain his portrayal in sculpture and carvings with an exaggerated female appearance and elongated head.
The Egyptian pharaoh was the subject for the 14th annual Historical Clinicopathological Conference in Davidge Hall on May 2. The event, devoted to the modern medical diagnosis of disorders that affected prominent historical figures, is organized by Philip A. Mackowiak, ’70, and is staged during the annual medical alumni reunion.
While the bodies of many pharaohs and members of their families have been preserved as mummies, no mummy of Akhenaten has been found. But statuary and carvings from the time show Akhenaten alone as well as in affectionate family settings that included his main consort, Nefertiti, and their children. Such settings were never employed in artwork of pharaohs before or after Akhenaten.
Previously, researchers have focused on several singular medical abnormalities to explain Akhenaten’s appearance. Among them are Frohlich’s Syndrome, Klinefelter Syndrome, or Marfan Syndrome. But according to Irwin M. Braverman, MD, professor of dermatology at Yale University and invited clinician for the conference, it could have been familial gynecomastia and craniosynostosis.
Braverman attributes the king’s female form to familial gynecomastia, brought on by an inherited syndrome called aromatase excess syndrome. This diagnosis is the first to be associated with Akhenaten. Aromatase (estrogen synthetase) is an enzyme complex that plays a critical role in converting androgens, hormones associated with male characteristics, into estrogens, hormones associated with female characteristics. Men and women produce both androgens and estrogens. Aromatase excess syndrome tips the androgen/estrogen balance in favor of estrogen, leading to the feminization of men, premature sexual development in girls, also known as isosexual precocity, and large breasts in women. The syndrome is dominantly inherited, which means that an abnormal gene from one parent is all that is required for the syndrome to be inherited.
| Statuary and carvings from the time show Akhenaten alone as well as in affectionate family settings that included his main consort, Nefertiti, and their children. Such settings were never employed in artwork of pharaohs before or after Akhenaten. | ||
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Braverman says he found some evidence of familial gynecomastia in depictions of Akhenaten’s father, grandfather and great-grandfather as well as in the founder of the 18th Dynasty, Tuthmosis I, six generations earlier. King Tut, who may have been Akhenaten’s brother, also had gynecomastia. In addition, he says a relief of Akhenaten and his family seems to confirm his theory of this inherited defect. A relief shows Akhenaten holding one daughter and Nefertiti holding another. On the floor is a third princess who appears to be six to seven years old, with breasts indicating isosexual precocity. Two other statues of princesses as children three to five years old depict them with breasts as well. “If they really had breasts at that age, this would prove the presence of the aromatase excess syndrome,” says Braverman, who adds that it may be possible to confirm the presence of the genetic aromatase syndrome because the mummies of Akhenaten relatives King Tut, Tuthmosis I and Queen Hatshepsut exist. “DNA from the mummy’s bone marrow could be analyzed to look for the
gene defect.”
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As for the shape of Akhenaten’s head, Braverman traces this to craniosynostosis, in which sutures, the fibrous joints of the head, fuse at an early age, and interfere with the process of skull formation. The specific condition, the absence of the sagittal suture, is dominantly inherited. Braverman says he observed this abnormality in the king’s daughters as well as in Queen Hatshepsut, daughter of Tuthmosis I, founder of Akhenaten’s paternal line, and in King Tut, who ended
this line.
Sutures normally expand as the brain expands and typically do not fuse until the age of 25 to 30. “At first, I wondered whether they bound the heads of infants to get this effect,” says Braverman, “but there is no mention of this in Egyptian literature.” The mummies could also be tested for the presence of three genes known to be responsible for most of the craniosynostosis syndromes.
Another guest participant was Canadian Egyptologist and archaeologist Donald B. Redford, PhD, a professor of classic and ancient Mediterranean studies at Pennsylvania State University. Redford, who is an expert on ancient Egypt and Biblical studies, has researched the 18th Dynasty Amarna period and is co-director of the Akhenaten Temple Project.
Redford says the bizarre depictions of Akhenaten’s body began to appear after the third year of the king’s reign, when he began worshiping the sun god, Aten. He says the king’s belief system cannot be divorced from the art style; a more personalized art style reflects a more personal religion. Redford notes that Akhenaten even claimed, “‘There is only one god, my father. I can approach him by day, by night.’ This was a very strange statement for the time.” Akhenaten may have been the first monotheist in all of history, a precursor to Abraham, Isaac, Jacob, and Muhammad as prophets who worshiped one god.
The program included musical selections from Philip Glass’s symphony, Akhenaten, as well as a tribute to the pharaoh by actor/consultant Wayne Millan.
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