McCune Albright Syndrome: Case Report and Review of Literature

authors:

avatar Jr Nunilo I Rubio 1 , * , avatar Shahla Nader 2 , avatar Patrick G Brosnan 2

Department of Pediatrics University of, [email protected], USA
Department of Internal Medicine,University of, USA

how to cite: Rubio J, Nader S, Brosnan P. McCune Albright Syndrome: Case Report and Review of Literature. Int J Endocrinol Metab.4(3): 167-175.

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.

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