Statues, sculptures, and reliefs from the Armana period around 1353 to 1323 B.C. when King Tut and his father -- the controversial King Akhenaten, who tried to radically transform religion in the New Kingdom -- ruled suggested an androgynous appearance in the royal family. Statues of the time showed the King Tut with an elongated head and feminized features.
Although no chest wall was available for Tutankhamen to determine whether he had gynecomastia, the researchers noted "well developed" genitalia.
He also had a relatively flat head (brachycephaly) contrasting with the elongated skull (dolichocephaly) expected as one of the obvious features of Marfan syndrome.
Thus, the feminine physique seen in art from the period likely reflected a royally-decreed idealized style, not a bizarre appearance of the family, Pusch and colleagues concluded.
The researchers also excluded Antley-Bixler syndrome, but detailed radiological examination of the king's feet revealed a low arch and deformed structure with areas of bone density indicating bone necrosis.
A foot disorder (Köhler disease II) or a bone disorder (Freiberg-Köhler syndrome) was apparently active at the time of death and may have caused walking disability for some time.
The disorders may explain the 130 canes and walking sticks -- some with traces of wear -- found in the boy king's tomb as well as the depictions of him seated for activities like hunting for which he normally should have been standing.
Among the 10 possibly or definitely closely related mummies examined, Pusch's group also found bone malformation -- including cleft palate, clubfeet, and flat feet -- along with indications of bone degeneration, neoplastic changes, and trauma.
Several of the mummies, like Tutankhamun, had DNA of the malaria parasite, although none had evidence of tuberculosis, leprosy, leishmaniasis, or pandemic bubonic plague.
The researchers also discovered the identity of several of the mummies, whereas only three had identities known for sure before the two-year project:
Thuya, maternal grandmother or great grandmother of Tutankhamun
Yuya, maternal grandfather or great grandfather of Tutankhamun
Amenhotep III, father of Akhenaten
Genetic testing of Y chromosomes and blood groups helped scientists identify which mummy was King Tut's father.
Genetic testing of Y chromosome alleles showed identical allele patterns in Amenhotep III, Tutankhamun, and a third mummy but not other unrelated mummies, a result that was replicated by a second laboratory. This, along with identical blood group results with Tutankhamun, further supported that the third mummy (KV55) is Akhenaten, the researchers said.
Using the genetic information on allele sharing among the mummies, the researchers put together the most plausible family tree as Yuya and Thuya as parents of the newly identified Tiye, who with Amenhotep III had Akhenaten and his sister, the as-yet unidentified mummy KV35YL.
The genetic information also showed Tutankhamun was the father of two mummified fetuses, and that his mother and father -- Akhenaten -- were also sister and brother.
The mother of the two stillbirths was suggested to be the mummy KV21A, although the little data available did not statistically significantly define her as Ankhensenamun.