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McCune-Albright syndrome

MIM.174800 20q13.3

Wednesday 27 June 2007

The McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia, pigment patches of the skin and endocrinologic abnormalities, including precocious puberty, thyrotoxicosis, pituitary gigantism, and Cushing syndrome (MIM.219080). It is usually caused by mosaicism for a mutation in the GNAS1 gene.


- polyostotic fibrous dysplasia
- pigment patches of the skin
- endocrinologic abnormalities

  • precocious puberty
  • thyrotoxicosis
  • pituitary gigantism
  • primary bimorphic adrenocortical disease: hypercortisolism and Cushing syndrome (21836496)
  • macro-orchidism (macroorchidism) without sexual precocity (17101633)


- mosaicism for a mutation in the GNAS1 gene.

Tumoral predisposition

- osteosarcoma (14691924)

See also

- Primary Bimorphic Adrenocortical Disease: Cause of Hypercortisolism in McCune-Albright Syndrome. Carney JA, Young WF, Stratakis CA. Am J Surg Pathol. 2011 Sep;35(9):1311-26. PMID: 21836496

- Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune-Albright syndrome. Rey RA, Venara M, Coutant R, Trabut JB, Rouleau S, Lahlou N, Sultan C, Limal JM, Picard JY, Lumbroso S. Hum Mol Genet. 2006 Dec 15;15(24):3538-43. PMID: 17101633 (Free)

- Mikami M, Koizumi H, Ishii M, Nakajima H. The identification of monoclonality in fibrous dysplasia by methylation-specific polymerase chain reaction for the human androgen receptor gene. Virchows Arch. 2004 Jan;444(1):56-60. PMID: 14576938