Feminine pharaoh: a genetic anomaly?

Akhenaten, a pharaoh of Egypt’s 18th dynasty, is portrayed (see photo) with a thin neck, elongated head, large buttocks, breasts and a prominent belly. These depictions have long intrigued Egyptologists, who have suggested that he was portrayed in this way for religious reasons, or that artists exaggerated his physical characteristics.

But Irwin M. Braverman, M.D., professor of dermatology, believes that ancient artists accurately captured the signs of two genetic conditions: aromatase excess syndrome, in which excess estrogen production can lead to feminization of the male body and early puberty in females, and craniosynostosis, a developmental defect that alters normal skull growth.

The pharaoh’s daughters are depicted with breasts, large hips and buttocks at age three and seven in some carvings, and a number of his relatives are shown with identical abnormalities, suggesting genetic causes, says Braverman, who presented his findings at the 14th annual Historical Clinicopathological Conference in May.

No mummy of Akhenaten exists, but Braverman says it may be possible to confirm his retrospective diagnosis with genetic tests on the mummies of Akhenaten’s kin.