At what age is McCune-Albright syndrome (MAS) typically diagnosed?

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

Severe cases of MAS involving multiple endocrine tissues may be recognized shortly after birth. Cases of infantile Cushing syndrome and hyperthyroidism have also been reported in the neonatal period. Additionally, FD, café-au-lait pigmentation, liver disease, and hypophosphatemia can initially be seen in infancy.

Less severe findings of MAS can occur at almost any time during childhood. Most commonly, the onset of MAS occurs in early childhood (mean age, 4.9 years; range, 0.3-9 years), typically earlier in girls than in boys. Precocious puberty in girls can be seen in infants as young as 4 months, though it more frequently occurs in girls older than 1 year. Café-au-lait pigmentation is more likely to become apparent later in the progression of the syndrome.

GH-producing pituitary tumors and functional-thyroid adenomas secondary to activating GNAS1 mutations can occur in individuals at any age. Disease with a later onset (ie, in the early to late teenage years) tends to be associated with clinically attenuated phenotypes.


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