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International Journal of Endocrinology and Metabolism
Research Institute for Endocrine Sciences
e-ISSN 1726-9148
p-ISSN 1726-913X
McCune Albright Syndrome: Case Report and Review of Literature
Authors
1Department of Pediatrics University of, nunilo.i.rubio@uth.tmc.edu, USA
2Department of Internal Medicine,University of, USA
*Corresponding Author: Department of Pediatrics University of, nunilo.i.rubio@uth.tmc.edu, USA. Email: nunilo.i.rubio@uth.tmc.edu
Published online:Jul 31, 2006
Article type:Research Article
Received:Jan 12, 2005
Accepted:Aug 21, 2005
How to Cite:Rubio J, Nader S, Brosnan P. McCune Albright Syndrome: Case Report and Review of Literature. Int J Endocrinol Metab. 2006;4(3):. doi:
Abstract
McCune-Albright syndrome is a rare disease de-fined by two of the three classical findings of polyostotic fibrous dysplasia, café au lait spots, and endocrine abnormalities, the most common being precocious puberty. This disease manifests in a mosaic pattern, signifying the sporadic de-velopment of disease during embryogenesis. Re-cent literature has characterized the pathogenesis of this disease, which results from a mutation in the GNAS gene that causes a persistent activa-tion of the G stimulatory-alpha subunit of the G protein cellular signaling complex. This causes a ‘gain of function’ in the cells affected. This paper describes three cases of McCune Albright’s syn-drome and reviews the recent literature regard-ing the pathogenesis of each of the classical find-ings.
Highlights
Copyright
© 2006, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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