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.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

Orphanet article

Orphanet ID 424 [^]
9.

OMIM.ORG article

Omim 609152 [^]
Update: April 29, 2019