Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

McCune-Albright syndrom

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

Symptoms

Café au lait spots
Café au lait spots are typical cutaneous findings in

Systematic

Bone dysplasia
Achondroplasia
Achondroplasia-SCID syndrome
Acrocapitofemoral dysplasia
Antley-Bixler syndrome 1
Antley-Bixler syndrome 2
Apert syndrome
Cherubism
Chondrodysplasia of Blomstrand type
Chondrodysplasia, Grebe type
Crouzon syndrome
Eiken syndrome
Failure of tooth eruption
McCune-Albright syndrom
GNAS
Metaphyseal chondrodysplasia of Murk Jansen type
Muenke syndrome
Osteofibrous dysplasia
Osteopathia striata with cranial sclerosis
Schimke Immunoosseous dysplasia
Thanatophoric dysplasia 1
Thanatophoric dysplasia 2

References:

1.

Tinschert S et al. (1999) McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient.

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2.

Kirk JM et al. (1999) Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome.

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3.

Kitoh H et al. (1999) Different genotype of periosteal and endosteal cells of a patient with polyostotic fibrous dysplasia.

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4.

Reitzik M et al. (1975) Familial polyostotic fibrous dysplasia.

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5.

de Sanctis C et al. () McCune-Albright syndrome: a longitudinal clinical study of 32 patients.

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6.

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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7.

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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8.

Obuobie K et al. (2001) McCune-Albright syndrome: growth hormone dynamics in pregnancy.

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9.

Laven JS et al. (2001) Dynamics of ovarian function in an adult woman with McCune--Albright syndrome.

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10.

None (1975) Editorial: Albright syndrome: is it coming of age?

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11.

Akintoye SO et al. (2002) Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome.

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12.

Collins MT et al. (2003) Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations.

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13.

HIBBS RE et al. (1952) [Albright's syndrome].

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14.

None (1992) Tegernsee giant.

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15.

Cremonini N et al. (1992) Atypical McCune-Albright syndrome associated with growth hormone-prolactin pituitary adenoma: natural history, long-term follow-up, and SMS 201-995--bromocriptine combined treatment results.

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16.

Premawardhana LD et al. (1992) Acromegaly and its treatment in the McCune-Albright syndrome.

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17.

Plotkin H et al. (2003) Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone.

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18.

Laven JS et al. (2004) Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome.

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19.

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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20.

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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21.

Nerlich A et al. (1991) Juvenile gigantism plus polyostotic fibrous dysplasia in the Tegernsee giant.

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22.

Schwindinger WF et al. (1991) DNA light on the Tegernsee giant.

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23.

Feuillan P et al. (2007) Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study.

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24.

Yoshimoto M et al. (1991) A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.

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25.

Endo M et al. (1991) Monozygotic twins discordant for the major signs of McCune-Albright syndrome.

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26.

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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27.

Weinstein LS et al. (1991) Activating mutations of the stimulatory G protein in the McCune-Albright syndrome.

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28.

Feuillan PP et al. (1991) Luteinizing hormone-releasing hormone (LHRH)-independent precocious puberty unresponsive to LHRH agonist therapy in two girls lacking features of the McCune-Albright syndrome.

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29.

None (1977) Fibrous dysplasia of bone. Report of female monozygotic twins with and without the McCune-Albright syndrome.

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30.

Hamilton CR et al. (1973) Unusual types of hyperthyroidism.

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31.

Zacharin M et al. (2011) Gastrointestinal polyps in McCune Albright syndrome.

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32.

Abs R et al. (1990) Acromegaly, multinodular goiter and silent polyostotic fibrous dysplasia. A variant of the McCune-Albright syndrome.

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33.

Döhler JR et al. (1986) Idiopathic hyperphosphatasia with dermal pigmentation. A twenty-year follow-up.

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34.

Feuillan PP et al. (1986) Treatment of precocious puberty in the McCune-Albright syndrome with the aromatase inhibitor testolactone.

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35.

None (1988) Osteosarcoma in fibrous dysplasia.

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36.

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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37.

Kaplan FS et al. (1988) Estrogen receptors in bone in a patient with polyostotic fibrous dysplasia (McCune-Albright syndrome).

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38.

Giovannelli G et al. (1978) McCune-Albright syndrome in a male child: a clinical and endocrinologic enigma.

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39.

None (1986) The McCune-Albright syndrome: a lethal gene surviving by mosaicism.

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40.

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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41.

McArthur RG et al. (1979) Albright's syndrome with rickets.

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42.

Shires R et al. (1979) Idiopathic hypothalamic hypogonadotropic hypogonadism with polyostotic fibrous dysplasia.

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43.

None (1970) Bones, stones and hormones: the contributions of Fuller Albright.

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44.

Wirth WA et al. (1971) Multiple intramuscular myxomas. Another extraskeletal manifestation of fibrous dysplasia.

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45.

Firat D et al. (1968) Fibrous dysplasia of the bone. Review of twenty-four cases.

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46.

None (1966) Sex precocity and polyostotic fibrous dysplasia. Report of a case in a boy with testicular biopsy.

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47.

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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48.

Nager GT et al. () Fibrous dysplasia of the temporal bone. Update with case reports.

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49.

Alvarez-Arratia MC et al. (1983) A probable monogenic form of polyostotic fibrous dysplasia.

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50.

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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51.

Candeliere GA et al. (1995) Increased expression of the c-fos proto-oncogene in bone from patients with fibrous dysplasia.

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52.

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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53.

None (1993) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 7-1993. A six-year-old boy with multiple bone lesions, repeated fractures, and sexual precocity.

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54.

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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55.

Dent CE et al. (1976) Hypophosphataemic osteomalacia in fibrous dysplasia.

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56.

None (1998) "A rare disorder, yes; an unimportant one, never".

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57.

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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58.

Orphanet article

Orphanet ID 562 [^]
59.

OMIM.ORG article

Omim 174800 [^]
60.

Wikipedia article

Wikipedia EN (Polyostotic_fibrous_dysplasia) [^]
Update: April 29, 2019