Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Familial gestational hyperthyroidism

Familial gestational hyperthyroidism is an autosomal dominant disorder caused by activating mutations of the TSHR gene.

Systematic

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

References:

1.

Rodien P et. al. (1998) Familial gestational hyperthyroidism caused by a mutant thyrotropin receptor hypersensitive to human chorionic gonadotropin.

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2.

Grossmann M et. al. (1997) Novel insights into the molecular mechanisms of human thyrotropin action: structural, physiological, and therapeutic implications for the glycoprotein hormone family.

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Update: Sept. 26, 2018