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
- precocious puberty
- 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.
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