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A Feminine Physique, a Long, Thin Neck and Elongated Head Suggest Egyptian Pharoah Akhenaten Had Two Rare Disorders

Friday, May 02, 2008

 Was Akhenaten's appearance really as strange as statues depict him?

University of Maryland School of Medicine and the VA Maryland Health Care System Sponsor Conference to Examine Ancient Egypt’s Most Mysterious King

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. Questions about Akhenaten abound. Were his artisans following his orders to employ an artistic style for some religious purpose? Or did he really look this bizarre, and if so, why? 

These questions form the backdrop for the 14th annual Historical Clinicopathological Conference (CPC), sponsored by the University of Maryland School of Medicine and the Veterans Affairs (VA) Maryland Health Care System in Baltimore. This annual conference is devoted to the modern medical diagnosis of disorders that affected prominent historical figures.

The 2008 Historical CPC will be held Friday, May 2, from 1:30 to 3:00 p.m., in Davidge Hall (522 W. Lombard Street) at the University of Maryland School of Medicine in Baltimore. More than 300 alumni, faculty members, students and local history buffs are expected to attend this event.

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.
Art-based diagnosis 

With only artwork to guide a medical diagnosis of Akhenaten, the creator of the Historical CPC, Philip A. Mackowiak, M.D., professor and vice chair of the Department of Medicine at the University of Maryland School of Medicine and director of medical care at the VA Maryland Health Care System, turned to a professor of dermatology at Yale University School of Medicine, Irwin M. Braverman, M.D.

The statuary and carvings of Akhenaten present two issues that Dr. Braverman has tried to address. “One is his female appearance, and the second one is the shape of his head,” says Dr. Braverman. The list of peculiarities is lengthy: an elongated skull, long neck, sunken eyes, thick thighs, long fingers, backward-turned knee joints, a prominent belly that suggests pregnancy and female-like breasts.

Previously, researchers have focused on several singular medical abnormalities to explain Akhenaten’s appearance. Among them, an endocrine disorder found mostly in men called Froehlich’s Syndrome, which causes sterility and feminine fat distribution; Klinefelter Syndrome, a male chromosomal abnormality, which can cause gynecomastia (male breast enlargement) and infertility; or Marfan syndrome, a genetic disorder whose characteristics include a long face and long fingers.
But based on Dr. Braverman’s observations, these conditions all miss the mark. He theorizes that Akhenaten had two medical problems that together contributed to his appearance.

Feminine Characteristics

Dr. 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, advanced 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.

Dr. 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, Dr. Braverman 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 6 to 7 years old, with breasts indicating isosexual precocity. Two other statues of princesses as children 3 to 5 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 Dr. Braverman.

He 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,” says Dr. Braverman.

Head Shape

As for the shape of Akhenaten’s head, Dr. Braverman attributes this to a condition called 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, called a sagittal suture, is dominantly inherited. Dr. 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 Dr. 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.

Dr. Braverman developed a course that is now required at Yale and more than a dozen medical schools to help medical students hone their observational skills. They observe paintings at an art museum for a fixed amount of time, and then describe what they’ve seen afterwards. A controlled study concluded that the technique improves the students’ power of observation.

Historical Perspective

Another guest participant in the Historical CPC is prominent Canadian Egyptologist and archaeologist Donald B. Redford, Ph.D., a professor of classic and ancient Mediterranean studies at Pennsylvania State University. Dr. 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.

Dr. 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. Dr. 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.

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