What are the initial studies in the workup 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

Full endocrine studies should be performed. Testicular or ovarian hyperfunction is the most common abnormality. Testosterone or estradiol levels are elevated. Gonadotropin levels are usually reduced or normal. Hyperthyroidism is common (33%), with elevated thyroxine but low or normal thyrotropin levels. Growth hormone (GH), prolactin (PRL), and, rarely, luteinizing hormone (LH) or follicle-stimulating hormone (FSH) levels may be elevated. Elevated cortisol levels are not suppressed by dexamethasone. Hypophosphatemia with hyperphosphaturia is noted.

To surmount the variations in mutations of GNAS1 analysis for MAS, sensitive and specific molecular methods are needed and must be performed on affected tissues and from easily accessible tissues. This is particularly true for atypical and monosymptomatic forms of MAS. [36]

Diagnostic imaging modalities that may be considered include plain radiography, ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), and radionuclide bone scanning.


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