Did Akhenaten Have the Antley–Bixler Syndrome?

Abstract

Letters15 December 2009Did Akhenaten Have the Antley–Bixler Syndrome?Irwin M. Braverman, MD and Philip A. Mackowiak, MD, MBAIrwin M. Braverman, MDFrom Yale University School of Medicine, New Haven, CT 06520-8059; and Veterans Affairs Medical Center, Baltimore, MD 21201.Search for more papers by this author and Philip A. Mackowiak, MD, MBAFrom Yale University School of Medicine, New Haven, CT 06520-8059; and Veterans Affairs Medical Center, Baltimore, MD 21201.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-151-12-200912150-00013 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail IN RESPONSE:Our analysis of Akhenaten's kindred revealed 2 abnormalities: craniosynostosis and gynecomastia. These were best explained by 2 genetic disorders: sagittal craniosynostosis and the aromatase syndrome producing excessive estrogen. The Antley–Bixler syndrome (1) was brought to our attention as a possible explanation for our findings. However, the type of cranial deformity in ABS is very different from that found in Akhenaten's kindred, and infertility was not a problem for Akhenaten. However, the gene for the aromatase syndrome regulates a portion of the P450 enzyme system, and the gene for POR deficiency also regulates a portion of the P450 enzyme ...Reference1. Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004;36:228-30. [PMID: 14758361] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: From Yale University School of Medicine, New Haven, CT 06520-8059; and Veterans Affairs Medical Center, Baltimore, MD 21201.Disclosures: None disclosed. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetailsSee AlsoAkhenaten and the Strange Physiques of Egypt's 18th Dynasty Irwin M. Braverman , Donald B. Redford , and Philip A. Mackowiak Did Akhenaten Have the Antley–Bixler Syndrome? Walter L. Miller Metrics Cited byImpact of type 2 diabetes and microvascular complications on mortality and cardiovascular outcomes in a multiethnic Asian populationIncreased Circulating Visfatin Is Associated With Progression of Kidney Disease in Non-Diabetic Hypertensive Patients 15 December 2009Volume 151, Issue 12Page: 892KeywordsConflicts of interestDNAEnzymesEstrogensGenetic diseasesGenomicsInfertility ePublished: 15 December 2009 Issue Published: 15 December 2009 Copyright & PermissionsCopyright © 2009 by American College of Physicians. All Rights Reserved.PDF downloadLoading ...