hrp0084p3-1006 | Gonads | ESPE2015

Early and Sever Manifestation of McCune-Albright Syndrome with GNAS Mutation in the Liver Tissue

Aljuraibah Fahad , Alohali Wael , Albalawi Mohammed , Almutair Angham

Background: McCune-albright syndrome is clasiically defined by the clinical triad of fibroud dysplasia of bone (FD), café-au-lait spots and precocious puberty. It is a rare disease with variable presentation caused by somatic (non-germline) gain of function mutation in GNAS gene. It can affects both endocrine and non-endocrine tissue. In addition to precocious puberty, other hyperfunctioning endocrinopathies may be involved including hyperthyroidism, growth excess, cushin...