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Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val).

Author(s): Kirsten Börgel, Joachim Pohlenz, Hans G. Koch, Jürgen Brämswig

Publication date: 2004-12-31

Keywords: Antithyroid Agents, therapeutic use, Carbimazole, Heterozygote, Humans, Hyperthyroidism, drug therapy, genetics, Infant, Newborn, Point Mutation, Receptors, Thyrotropin, Time Factors

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Abstract

Hereditary nonautoimmune hyperthyroidism is caused by activating germline mutations in the thyrotropin receptor gene. Antithyroid treatment failed to control hyperthyroidism in most cases, so that primary thyroid ablation or 131I therapy is advocated as the preferred treatment of choice. We describe a case of neonatal nonautoimmune hyperthyroidism treated with carbimazole. Molecular analysis revealed a new heterozygous point mutation (A428V) in the TSH receptor (TSHR) gene. Antithyroid treatment was successful in controlling hyperthyroidism for the first 5.9 years of age. We conclude that carbimazole therapy is effective in treating nonautoimmune hyperthyroidism. It may be an alternative to thyroidectomy or radioiodine treatment. (c) 2005 S. Karger AG, Basel.

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Most cited references 19

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Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene.

S Refetoff, Y Hayashi, M. Gottschalk … (1995)

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Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism.

J Orgiazzi, M Delisle, J Parma … (1994)

The thyrotropin receptor (TSHR), a member of the large family of G protein-coupled receptors, controls both the function and growth of thyroid cells via stimulation of adenylyl cyclase. We report two different mutations in the TSHR gene of affected members of two large pedigrees with non-autoimmune autosomal dominant hyperthyroidism (toxic thyroid hyperplasia), that involve residues in the third (Val509Ala) and seventh (Cys672Tyr) transmembrane segments. When expressed by transfection in COS-7 cells, the mutated receptors display a higher constitutive activation of adenylyl cyclase than wild type. This new disease entity is the germline counterpart of hyperfunctioning thyroid adenomas, in which different somatic mutations with similar functional characteristics have been demonstrated.