How is McCune-Albright syndrome diagnosed?

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

The clinical presentation of MAS is highly variable, depending on which of the various potential components of the syndrome predominate (see Presentation). Diagnosis of MAS depends on finding at least 2 of the phenotypic features associated with activating GNAS1 mutations.

Early recognition is vital. In typical cases, the diagnosis of MAS is not in doubt. However, in atypical cases, the combination of cutaneous pigmentation, bony lesions, and soft-tissue masses may suggest other conditions (eg, systemic mastocytosis and neurofibromatosis [NF]) (see DDx).

Full endocrine studies should be performed under the care of an endocrinologist. Testicular or ovarian hyperfunction is the most common abnormality. Diagnostic imaging modalities that may be considered include plain radiography, ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), and radionuclide bone scanning (as clinically indicated) (see Workup).


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