McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the triad:
endocrinopathy: precocious puberty
polyostotic fibrous dysplasia: more severe than in sporadic cases
cutaneous pigmentation: coast of Maine 'café au lait' spots
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Clinical presentation
Presentation is variable 1:
leg pain, limp, pathological fracture: ~ 75%
abnormal vaginal bleeding: ~25%
-
coast of Maine café au lait spots
predominantly on posterior trunk: ~40% (range 30-50%)
often ipsilateral to bone lesions
irregular borders
hypercortisolism (Cushing syndrome): ~7% 3
hyperthyroidism 5
phosphate wasting
Pituitary adenomas that secrete growth hormone
Pathology
Genetics
MAS results from a sporadically occurring somatic GNAS gene mutation 2.
History and etymology
The condition is named after:
Fuller Albright (1900-1969), an American endocrinologist
Donovan James McCune (1902-1976), an American pediatrician
Carl Sternberg (1872-1935), an Austrian pathologist
Radiographic features
Role of imaging in MAS is predominantly to identify and define fibrous dysplasia (refer to the article for specific features). It is also complementary in identifying related endocrinological conditions.
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