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McCune-Albright Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

McCune in 1936 described a 9-year-old female with precocious puberty, hyperpigmentation of the skin, and hyperthyroidism (McCune and Bruch 1936). In 1937, Albright published a case series of five females with bone disease, areas of hyperpigmentation, and precocious puberty (Albright et al. 1937). McCune-Albright syndrome (MAS) consists of polyostotic fibrous dysplasia, precocious puberty, café au lait spots, and other endocrinopathies secondary to hyperactivity of various endocrine glands. It is a rare disease with an estimated prevalence between 1/100,000 and 1/1,000,000.

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References

  • Akintoye, D. O., Chebli, C., Booher, S., et al. (2002). Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. Journal of Clinical Endocrinology and Metabolism, 87, 5104–5112.

    Article  CAS  PubMed  Google Scholar 

  • Albright, F., Butler, A. M., & Hampton, A. O. (1937). Syndrome characterized by osteitis fibrosa disseminate, areas of pigmentation and endocrine dysfunction, with precocious puberty in females. The New England Journal of Medicine, 216, 727–747.

    Article  Google Scholar 

  • Anand, M. K. N. (2011). Fibrous dysplasia imaging. Medscape Reference. Updated 25 May 2011. Available at: http://emedicine.medscape.com/article/389714-overview

  • Anitha, N., Leena Sankari, S., Malathi, L., et al. (2015). Fibrous dysplasia-recent concepts. Journal of Pharmacy and Bioallied Sciences, 7(Suppl 1), S171–S172.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Bareille, P., Azcona, C., & Stanhope, R. (1999). Multiple neonatal endocrinopathies in McCune-Albright syndrome. Journal of Paediatrics and Child Health, 35, 315–318.

    Article  CAS  PubMed  Google Scholar 

  • Benedict, P. H. (1962). Endocrine features in Albright’s syndrome (fibrous dysplasia of bone). Metabolism, 1, 30–45.

    Google Scholar 

  • Bhansali, A., Sharma, B. S., Sreenivasulu, P., et al. (2003). Acromegaly with fibrous dysplasia: McCune-Albright syndrome-Clinical studies in 3 cases and brief review of literature. Endocrine Journal, 50, 793–799.

    Article  PubMed  Google Scholar 

  • Boston, B. A. (2010). Pediatric McCune-Albright syndrome. Medscape Reference. Updated 23 Apr 2010. Available at: http://emedicine.medscape.com/article/923026-overview

  • Bousson, V., Rey-Jouvin, C., Laredo, J.-D., et al. (2014). Fibrous dysplasia and McCune-Albright syndrome: Imaging for positive and differential diagnoses, prognosis, and follow-up guidelines. European Journal of Radiology, 83, 1828–1842.

    Article  PubMed  Google Scholar 

  • Boyce, A. M., & Collins, M. T. (2015). Fibrous dysplasia/McCune-Albright syndrome. GeneReviews. Updated 28 Feb 2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1116/

  • Cabral, C. E., Guedes, P., Fonseca, T., et al. (1998). Polyostotic fibrous dysplasia associated with intramuscular myxomas: Mazabraud’s syndrome. Skeletal Radiology, 27, 278–282.

    Article  CAS  PubMed  Google Scholar 

  • Chapurlat, R. D., & Orcel, P. (2008). Fibrous dysplasia of bone and McCune-Albright syndrome. Best Practice & Research. Clinical Rheumatology, 22, 55–69.

    Article  CAS  Google Scholar 

  • Coutant, R., Lumbroso, S., Rey, R., et al. (2001). Macroorchidism due to autonomous hyperfunction of Sertoli cells and Gs alpha gene mutation: An unusual expression of McCune-Albright syndrome in a prepubertal boy. Journal of Clinical Endocrinology and Metabolism, 86, 1778–1781.

    CAS  PubMed  Google Scholar 

  • Danon, M., Robboy, S. J., Kim, S., et al. (1975). Cushing syndrome, sexual precocity, and polyostotic fibrous dysplasia (Albright syndrome) in infancy. Journal of Pediatrics, 87, 917–921.

    Article  CAS  PubMed  Google Scholar 

  • De Sanctis, C., Lala, R., & Matarazzo, P. (1999). McCune-Albright syndrome: A longitudinal clinical study of 32 patients. Journal of Pediatric Endocrinology & Metabolism, 12, 817–826.

    Article  Google Scholar 

  • Dumitrescu, C. E., & Collins, M. T. (2008). McCune-Albright syndrome [Review]. Orphanet Journal of Rare Diseases, 3, 12–23.

    Article  PubMed  PubMed Central  Google Scholar 

  • Eugster, E. A., Rubin, S. D., Reiter, E. O., et al. (2003). Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: A multicenter trial. Journal of Pediatrics, 143, 60–66.

    Article  CAS  PubMed  Google Scholar 

  • Ferreira, E. C., Brito, C. C. B., Domingues, R. C., et al. (2010). Whole-body MR imaging for the evaluation of McCune-Albright syndrome. Journal of Magnetic Resonance Imaging, 31, 706–710.

    Article  PubMed  Google Scholar 

  • Foster, C. M., Feuillan, P., Padmanabhan, V., et al. (1986). Ovarian function in girls with McCune-Albright syndrome. Pediatric Research, 20, 859–863.

    Article  CAS  PubMed  Google Scholar 

  • Gross, C. W., & Montgomery, W. W. (1967). Fibrous dysplasia and malignant degeneration. Archives of Otolaryngology, 85, 97–101.

    Google Scholar 

  • Gurler, T., Alper, M., & Gencosmanoglu, R. (1998). McCune-Albright syndrome progressing with severe fibrous dysplasia. The Journal of Craniofacial Surgery, 9, 79–82.

    Article  CAS  PubMed  Google Scholar 

  • Harris, W. H., Dudley, H. R., & Barry, R. J. (1962). The natural history of fibrous dysplasia, an orthopaedic, pathologic and roentgenographic study. Journal of Bone and Joint Surgery, 44, 207–233.

    Article  PubMed  Google Scholar 

  • Isaia, G. C., Lala, R., Defilippi, C., et al. (2002). Bone turnover in children and adolescents with McCune-Albright syndrome treated with Pamidronate for bone fibrous dysplasia. Calcified Tissue International, 71, 121–128.

    Article  CAS  PubMed  Google Scholar 

  • Lee, P. A., Van Dop, C., & Migeon, C. J. (1986). McCune-Albright syndrome. Long-term follow-up. Journal of the American Medical Association, 256, 2980–2984.

    Article  CAS  PubMed  Google Scholar 

  • McCune, D. J., & Bruch, H. (1936). Osteodystrophia fibrosa: Report of a case in which the condition was combined with precocious puberty, pathologic pigmentation of the skin and hyperthyroidism, with a review of the literature. American Journal of Diseases of Children, 54, 806–848.

    Article  Google Scholar 

  • Muthusamy, S., Conway, S. A., & Thomas Temple, H. (2014). Five polyostotic conditions that general orthopedic surgeons should recognize (or should not miss). Orthopedic Clinics of North America, 45, 417–429.

    Article  PubMed  Google Scholar 

  • Riminucci, M., Fisher, L. W., Shenker, A., et al. (1997). Fibrous dysplasia of bone in the McCune-Albright syndrome: Abnormalities in bone formation. American Journal of Pathology, 151, 1587–1600.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Shenker, A., Weinstein, L. S., Moran, A., et al. (1993). Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. Journal of Pediatrics, 123, 509–518.

    Article  CAS  PubMed  Google Scholar 

  • Shenker, A., Weinstein, L. S., & Sweet, D. E. (1994). An activating Gs alpha mutation is present in fibrous dysplasia of bone in the McCune-Albright syndrome. Journal of Clinical Endocrinology and Metabolism, 79, 750–755.

    CAS  PubMed  Google Scholar 

  • Singer, F. R. (1997). Fibrous dysplasia of bone: The bone lesion unmasked. American Journal of Pathology, 151, 1511–1515.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Spiegel, A. M. (1997). The molecular basis of disorders caused by defects in G proteins. Hormone Research, 47, 89–96.

    Article  CAS  PubMed  Google Scholar 

  • Tinschert, S., Geri, H., & Gewies, A. (1999). McCune-Albright syndrome: Clinical and molecular evidence of mosaicism in an unusual giant patient. American Journal of Medical Genetics, 83, 100–108.

    Article  CAS  PubMed  Google Scholar 

  • Turan, S., & Bastepe, M. (2015). GNAS spectrum of disorders. Current Osteoporosis Reports, 13, 146–158.

    Article  PubMed  PubMed Central  Google Scholar 

  • Weinstein, L. S., Shenker, A., Gejman, P. V., et al. (1991). Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. The New England Journal of Medicine, 325, 1688–1695.

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Chen, H. (2017). McCune-Albright Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_152

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_152

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  • Print ISBN: 978-1-4939-2400-4

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