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 ...
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