McCune-Albright syndrom is caused by somatic mutations of the GNAS gene occuring early in development and resulting in a mosaic of normal and altered cells. It is characterized by the triad of precocious puberty, fibrous dysplasia of bone, and café au lait lesions
Café au lait spots | |
Café au lait spots are typical cutaneous findings in |
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Wirth WA et al. (1971) Multiple intramuscular myxomas. Another extraskeletal manifestation of fibrous dysplasia. |
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Hamilton CR et al. (1973) Unusual types of hyperthyroidism. |
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Zacharin M et al. (2011) Gastrointestinal polyps in McCune Albright syndrome. |
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Abs R et al. (1990) Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia. A variant of the McCune-Albright syndrome. |
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Döhler JR et al. (1986) Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up. |
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Feuillan PP et al. (1986) Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone. |
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None (1988) Osteosarcoma in fibrous dysplasia. |
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Viljoen DL et al. (1988) Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia? |
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Kaplan FS et al. (1988) Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome). |
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Giovannelli G et al. (1978) McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma. |
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None (1986) The McCune-Albright syndrome: a lethal gene surviving by mosaicism. |
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Hall R et al. (1972) Hypersecretion of hypothalamic releasing hormones: a possible explanation of the endocrine manifestations of polyostotic fibrous dysplasia (Albright's syndrome). |
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McArthur RG et al. (1979) Albright's syndrome with rickets. |
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Shires R et al. (1979) Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia. |
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None (1970) Bones, stones and hormones: the contributions of Fuller Albright. |
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Kirk JM et al. (1999) Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. |
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Firat D et al. (1968) Fibrous dysplasia of the bone. Review of twenty-four cases. |
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None (1966) Sex precocity and polyostotic fibrous dysplasia. Report of a case in a boy with testicular biopsy. |
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Comite F et al. (1984) Cyclical ovarian function resistant to treatment with an analogue of luteinizing hormone releasing hormone in McCune-Albright syndrome. |
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Nager GT et al. () Fibrous dysplasia of the temporal bone. Update with case reports. |
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Alvarez-Arratia MC et al. (1983) A probable monogenic form of polyostotic fibrous dysplasia. |
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Cole DE et al. (1983) Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia. |
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Candeliere GA et al. (1995) Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia. |
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Malchoff CD et al. (1994) An unusual presentation of McCune-Albright syndrome confirmed by an activating mutation of the Gs alpha-subunit from a bone lesion. |
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Mastorakos G et al. (1997) Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. |
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Dent CE et al. (1976) Hypophosphataemic osteomalacia in fibrous dysplasia. |
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None (1998) "A rare disorder, yes; an unimportant one, never". |
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Bianco P et al. (1998) Reproduction of human fibrous dysplasia of bone in immunocompromised mice by transplanted mosaics of normal and Gsalpha-mutated skeletal progenitor cells. |
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Tinschert S et al. (1999) McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. |
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Kitoh H et al. (1999) Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia. |
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Reitzik M et al. (1975) Familial polyostotic fibrous dysplasia. |
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de Sanctis C et al. () McCune-Albright syndrome: a longitudinal clinical study of 32 patients. |
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Bianco P et al. (2000) Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. |
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Coutant R et al. (2001) Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy. |
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Obuobie K et al. (2001) McCune-Albright syndrome: growth hormone dynamics in pregnancy. |
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Laven JS et al. (2001) Dynamics of ovarian function in an adult woman with McCune--Albright syndrome. |
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None (1975) Editorial: Albright syndrome: is it coming of age? |
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Akintoye SO et al. (2002) Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. |
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Collins MT et al. (2003) Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. |
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HIBBS RE et al. (1952) [Albright's syndrome]. |
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None (1992) Tegernsee giant. |
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Premawardhana LD et al. (1992) Acromegaly and its treatment in the McCune-Albright syndrome. |
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None (1977) Fibrous dysplasia of bone. Report of female monozygotic twins with and without the McCune-Albright syndrome. |
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Weinstein LS et al. (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. |
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Mieszczak J et al. (2008) The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome. |
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Endo M et al. (1991) Monozygotic twins discordant for the major signs of McCune-Albright syndrome. |
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Yoshimoto M et al. (1991) A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism. |
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Feuillan P et al. (2007) Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. |
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Schwindinger WF et al. (1991) DNA light on the Tegernsee giant. |
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Nerlich A et al. (1991) Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant. |
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Schwindinger WF et al. (1992) Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. |
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Lumbroso S et al. (2004) Activating Gsalpha mutations: analysis of 113 patients with signs of McCune-Albright syndrome--a European Collaborative Study. |
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Laven JS et al. (2004) Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome. |
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Plotkin H et al. (2003) Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. |
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Orphanet article Orphanet ID 562 |
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OMIM.ORG article Omim 174800 |
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Wikipedia article Wikipedia EN (Polyostotic_fibrous_dysplasia) |