hrp0082p2-d2-600 | Thyroid (1) | ESPE2014
, Roosimaa Mart
, Pajuvali Anett
, Tillmann Vallo
Background: McCuneAlbright syndrome (MAS) is a rare disease with a prevalence of <1 to 100 000. It is caused by early post-zygotic mutations in the GNAS1 gene. Classically it presents with precocious puberty, fibrous dysplasia and café-au-lait spots. Other endocrinopathies may be hyperthyroidism, GH excess, Cushing syndrome, and renal phosphate wasting.Case report: A 17-year-old girl diagnosed with MAS at the age of 11 on basis of all thre...