McCune-Albright Syndrome
- PMID: 30725777
- Bookshelf ID: NBK537092
McCune-Albright Syndrome
Excerpt
McCune-Albright syndrome is a rare genetic disordered originally recognized by the triad of polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots. A variety of endocrine disorders, including hyperthyroidism, acromegaly, phosphate wasting, and Cushing syndrome are now considered as part of the endocrinopathies seen in this disorder. The variable constellation of symptoms arises from a somatic activating mutation of the GNAS gene, which is present in many tissue types.
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References
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- Leet AI, Chebli C, Kushner H, Chen CC, Kelly MH, Brillante BA, Robey PG, Bianco P, Wientroub S, Collins MT. Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res. 2004 Apr;19(4):571-7. - PubMed
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