A Case of Atypical McCune-Albright Syndrome Associated with Hyperthyroidism

ABSTRACT McCune-Albright syndrome (MAS) is a sporadic disease that's c haracterized by polyostotic fibrous dysplasia, cafe-au-lait pigmentation of the skin, and multiple endocrinopathies, including sexual precocity, hyperthyroidism, acromegaly, and hypercortisolism. Recent evidence has shown that the clinical manifestations are caused by a postzygotic activating missense mutation in the gene coding for the α-subunit of Gs protein that stimulates c-AMP formation in the affected tissues. Substi tution of the Arg 201 residue in Gsα with cysteine or histidine have been identified in many MAS patients and Arg 201 to Gly or Leu mutations have also been recently identified. We identified the Arg 201 to His mutation in the gene encoding Gsα in the thyroid tissue from a 36-year-old man who was suffering with polyostotic fibro us dysplasia and hyperthyroidism. (J Kor Soc Endocrinol 21:158~164, 2006)ꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏꠏKey Words: Arg