McCUNE ALBRIGHT SYNDROME: AUTOSOMAL DOMINANT TRAIT IN A FAMILY OF EIGHT

McCune-Albright syndrome (MAS) is a sporadicdisease characterised by polyostotic fibrous dysplasia,cutaneous pigmented spots and autonomous hyperfunctionof multiple endocrine systems(1). Somatic activatingmutations in the gene (GNASI) forthe alpha subunit of Gs,the protein that stimulatescyclic adenosinemonophosphate(CAMP) formation, has been identified in affected tissueof individuals with MAS(2). The activation of adenylcyclase is part of a signal transduction pathway thatgeneratescAMP which isan intracellularsecond messengercausing permeability changes and hormone secretion oncells with features of MAS.An example is secretion of thyroid stimulatinghormone (TSH) by theanterior pitbitary, when this hormonereaches altered thyroid acini cells, with resultant increasein iodine uptake and increased production of T3 and t4.hence hyperthyroidism. A rare case ofMAS, presenting asan autosomal dominant traitthrough four generations in afamily is presented