Which physical findings are characteristic of McCune-Albright syndrome (MAS)?

Updated: Jan 17, 2019
  • Author: Gabriel I Uwaifo, MD; Chief Editor: George T Griffing, MD  more...
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Answer

Like the findings from the clinical history, the physical findings may vary, depending on the particular manifestations of MAS in a given patient. Diagnosis of MAS depends on finding at least 2 of the phenotypic features associated with activating GNAS1 mutations.

The presence of 2 distinct physical findings consistent with autonomous hyperfunction increases the likelihood that the single underlying cause is an activating GNAS1 mutation rather than activating mutations in genes (ie, receptors) specific to a tissue type. Although an activating GNAS1 mutation can be isolated in only 1 tissue type, confirmation requires molecular analysis of that specific tissue. Additionally, certain physical findings should lead away from the diagnosis of MAS.


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