Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Non-autoimmune hyperthyroidism

Non-autoimmune hyperthyroidism is an autosomal dominant disorder caused by activating mutations of the TSHR gene.

Systematic

Hyperthyroidism
Familial gestational hyperthyroidism
Graves disease
McCune-Albright syndrom
Non-autoimmune hyperthyroidism
TSHR
Susceptibility to thyrotoxic periodic paralysis 1

References:

1.

Thomas JS et. al. (1982) Familial hyperthyroidism without evidence of autoimmunity.

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2.

Kopp P et. al. (1995) Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene.

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3.

Duprez L et. al. (1994) Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.

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4.

de Roux N et. al. (1996) A neomutation of the thyroid-stimulating hormone receptor in a severe neonatal hyperthyroidism.

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5.

Paschke R et. al. (1997) The thyrotropin receptor in thyroid diseases.

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6.

Hollingsworth DR et. al. (1976) Congenital graves disease. Four familial cases with long-term follow-up and perspective.

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7.

Hollingsworth DR et. al. (1972) Hereditary aspects of Graves' disease in infancy and childhood.

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Update: Sept. 26, 2018