{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T15:03:29Z","timestamp":1790521409864,"version":"4.1.0"},"reference-count":68,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating &lt;i&gt;GNAS&lt;\/i&gt; mutations, leading to constitutive G\u03b1&lt;sub&gt;s&lt;\/sub&gt; activation and ligand-independent signaling of the G\u03b1&lt;sub&gt;s&lt;\/sub&gt;-coupled protein receptor. The phenotype is largely determined by location and extent of tissues in which the &lt;i&gt;GNAS&lt;\/i&gt; mutation is expressed, as well as the pathophysiologic effects of G\u03b1&lt;sub&gt;s&lt;\/sub&gt; activation within these tissues. Patients pre\u00adsent clinically with a variable combination of fibrous dysplasia of bone (FD), caf\u00e9-au-lait skin macules, and hyperfunctioning endocrinopathies. In bone, G\u03b1&lt;sub&gt;s&lt;\/sub&gt; leads to impaired differentiation of skeletal stem cells and formation of discrete, expansile FD lesions, resulting in fractures, pain, and functional impairment. A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD\/MAS. There are no medical therapies capable of altering the disease course in FD; however, screening and treatment for endocrinopathies can mitigate some skeletal morbidities. This review summarizes current understanding of MAS pathophysiology, describes the spectrum of clinical features, and includes a detailed discussion of the recommended approach to diagnosis and management.<\/jats:p>","DOI":"10.1159\/000504802","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T22:00:33Z","timestamp":1576792833000},"page":"347-356","source":"Crossref","is-referenced-by-count":87,"title":["The Clinical Spectrum of McCune-Albright Syndrome and Its 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