McCune-Albright syndrome (cont.)
Some children with McCune-Albright syndrome have very low levels of phosphorus in their blood due to excessive losses of phosphate in their urine. This may cause bone changes associated with rickets, and may be treated with oral phosphates and supplemental vitamin D.
There is no way to accurately predict how severe the disease may become in an affected child. There are no reported cases of any parent being affected, and the children of women with McCune-Albright syndrome are normal. All races appear to be affected equally.
The mystery of the cause of the McCune Albright syndrome appears to have been solved by the identification of activating mutations in the GNAS1 gene. The activating mutations render the GNAS1 gene functionally constitutive, turning the gene irreversibly on, so it is constantly active. This occurs in a mosaic pattern, in some tissues and not others.
The syndrome was first described independently in the 1930s by the American pediatrician Donovan James McCune (1902-1976) and a team from the Massachusetts General Hospital in Boston led by the great endocrinologist Fuller Albright (1900-1969):
Last Editorial Review: 8/28/2013
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