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Hyperthyroidism, Non-autoimmune Autosomal Dominant

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Synonyms

Hereditary nonautoimmune autosomal dominant toxic thyroid hyperplasia

Definition and Characteristics

Nonautoimmune autosomal dominant hyperthyroidism is caused by germline mutations in the TSH receptor (TSHR).

This disorder is characterized by the following (Table 1) (TSH receptor Mutation Database II, http://www.uni-leipzig.de/∼innere) (OMIM 609152) [15]:

Hyperthyroidism, Non-autoimmune Autosomal Dominant. Table 1 Clinical characteristics of subjects with autosomal dominant nonautoimmune hyperthyroidism and published specific constitutive activity or linear regression analysis of constitutive activity as a function of TSHR expression determined by 125I-bTSH binding

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References

  1. Kopp P (2001) The TSH receptor and its role in thyroid disease. Cell Mol Life Sci 58:1301–1322

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  2. Vaidya B, Campbell V, Tripp JH, Spyer G, Hattersley AT, Ellard S (2004) Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutation. Clin Endocrinol (Oxf) 60:711–718

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  3. Claus M, Maier J, Paschke R, Kujat C, Stumvoll M, Fuhrer D (2005) Novel thyrotropin receptor germline mutation (Ile568Val) in a Saxonian family with hereditary nonautoimmune hyperthyroidism. Thyroid 15:1089–1094

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  4. Karges B, Krause G, Homoki J, Debatin KM, de Roux N, Karges W (2005) TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5. J Endocrinol 186:377–385

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  5. Mueller S, Gozu H, Bircan R, Krohn K, Mueller S, Ekinci G, Yavuzer D, Sargin H, Sargin M, Orbay E, Cirakoglu B, Paschke R (2006) A further TSH-receptor germline variant (N372T) with lack of constitutive activity and reexamination of autosomal dominant non-autoimmune hyperthyroidism. In: ETA meeting (poster discussion), P266, Napoli

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Gozu, H.I., Lüblinghoff, J., Bircan, R., Paschke, R. (2009). Hyperthyroidism, Non-autoimmune Autosomal Dominant. In: Lang, F. (eds) Encyclopedia of Molecular Mechanisms of Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-29676-8_1745

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