McCune-Albright syndrome

William F. Schwindinger, Michael A. Levine

    Research output: Contribution to journalArticlepeer-review

    Abstract

    McCune-Albright syndrome (MAS) is characterized by the clinical triad of polyostotic fibrous dysplasia, cafe-au-lait pigmented skin lesions, and multiple endocrinopathies. The molecular basis of MAS is a mutation in Gsα that results in constitutive activation of adenylyl cyclase in affected tissues. This mutation occurs during early embryogenesis, and therefore patients with MAS are mosaic. The identification of activating mutations of Gsa in liver, heart, and gastrointestinal tract of patients with MAS suggests a broader spectrum of clinical disease than previously appreciated.

    Original languageEnglish (US)
    Pages (from-to)238-242
    Number of pages5
    JournalTrends in Endocrinology and Metabolism
    Volume4
    Issue number7
    DOIs
    StatePublished - 1993

    ASJC Scopus subject areas

    • Endocrinology
    • Endocrinology, Diabetes and Metabolism

    Fingerprint Dive into the research topics of 'McCune-Albright syndrome'. Together they form a unique fingerprint.

    Cite this