McCune Albright Syndrome: Case Report and Review of Literature
| Author | Jr Nunilo I Rubio | en |
| Author | Shahla Nader | en |
| Author | Patrick G Brosnan | en |
| Issued Date | 2006-07-31 | en |
| 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. | en |
| DOI | https://doi.org/ | en |
| URI | https://brieflands.com/journals/ijem/articles/74962 | en |
| Keyword | Mc-Cune Albright | en |
| Keyword | caf au lait spot | en |
| Keyword | precocious puberty | en |
| Keyword | polyostotic fibrous dysplasia | en |
| Keyword | G stimulatory-alpha mutation | en |
| Publisher | Brieflands | en |
| Title | McCune Albright Syndrome: Case Report and Review of Literature | en |
| Type | Research Article | en |
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