McCune-albright syndrome

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

McCune-Albright syndrome is a rare disease typically defined as the triad of precocious puberty, café au lait skin pigmentation, and fibrous dysplasia of bone. It is caused by a postzygotic activating mutation in Gsa resulting in unregulated and autonomous hormone production in endocrine cells and other tissues. The manifestations of McCune-Albright syndrome are myriad and highly variable among affected individuals. The most common endocrinopathy is precocious puberty which occurs primarily in girls, and the greatest source of morbidity is fibrous dysplasia of bone. Considerable progress has been made in identifying effective therapies for various aspects of this pleomorphic disease.

Original languageEnglish (US)
Title of host publicationEncyclopedia of Endocrine Diseases
PublisherElsevier
Pages634-639
Number of pages6
ISBN (Electronic)9780128122006
ISBN (Print)9780128121993
DOIs
StatePublished - Jan 1 2018
Externally publishedYes

Keywords

  • Café au lait
  • Fibrous dysplasia
  • GNAS1
  • Gs alpha
  • McCune-Albright syndrome
  • Ovarian cyst
  • Precocious puberty

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Eugster, E. A. (2018). McCune-albright syndrome. In Encyclopedia of Endocrine Diseases (pp. 634-639). Elsevier. https://doi.org/10.1016/B978-0-12-801238-3.04137-4