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Gilbert Syndrome Causes Genetics Pathogenesis Signs amp Symptoms Diagnosis Treatment
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Goodies: https://geni.us/medical-dictionary • Title: McCune-Albright syndrome • McCune-Albright syndrome: A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called Albright syndrome or polyostotic fibrous dysplasia. In the syndrome, there is bone disease with fractures and deformity of the legs, arms and skull; pigment patches of the skin; and endocrine (hormonal) disease with early puberty (early menstrual bleeding, development of breasts and pubic hair) and an increased rate of growth. The McCune-Albright syndrome is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1). The syndrome shows a broad spectrum of severity. Sometimes, children are diagnosed in early infancy with obvious bone disease and markedly increased endocrine secretions from several glands. At the opposite end of the spectrum, many children are entirely healthy, and have little or no outward evidence of bone or endocrine involvement. They may enter puberty close to the normal age, and have no unusual skin pigment at all. There is no way to accurately predict how severe the disease may become in an affected child. There are no reported cases of any parent being affected, and the children of women with McCune-Albright syndrome are normal. All races appear to be affected equally. The mystery of the cause of the McCune Albright syndrome appears to have been solved by the identification of activating mutations in the GNAS1 gene. The activating mutations render the GNAS1 gene functionally constitutive, turning the gene irreversibly on, so it is constantly active. This occurs in a mosaic pattern, in some tissues and not others. The syndrome was first described independently in the 1930s by the American pediatrician Donovan James McCune (1902-1976) and a team from the Massachusetts General Hospital in Boston led by the great endocrinologist Fuller Albright (1900-1969): • How to pronounce McCune-Albright syndrome • definition of McCune-Albright syndrome • audio dictionary • How to say McCune-Albright syndrome • What is the meaning of McCune-Albright syndrome • Pronounce McCune-Albright syndrome • Medical dictionary • Medical definition of McCune-Albright syndrome
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