Abstract #1175512: A Case of McCune Albright Syndrome with Multiple Associated Endocrinopathies

Abstract

McCune-Albright Syndrome (MAS) is a rare genetic disorder classically defined by a triad of fibrous dysplasia of bone, café-au-lait spots, and precocious puberty. The underlying pathophysiology of this disorder is an activating somatic mutation of GNAS gene at 20q13 – which codes for the alpha subunit of the Gs protein. In addition to gonadotropin independent precocious puberty, MAS is associated with other endocrinopathies including hyperthyroidism, hyperparathyroidism, growth hormone excess, and Cushing syndrome.