title: Long-term carbimazole treatment of neonatal nonautoimmune hyperthyroidism due to a new activating TSH receptor gene mutation (Ala428Val).
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  Antithyroid treatment was successful in controlling hyperthyroidism for the first 5.9 years of age.
  
  
  CONCLUSIONS
  We conclude that carbimazole therapy is effective in treating nonautoimmune hyperthyroidism. It may be an alternative to thyroidectomy or radioiodine treatment.
authors.affiliation: University Children's Hospital Münster, Münster, Germany. ullriki@uni-muenster.de
authors.forename: Kirsten
authors.initials: K
authors.lastname: Börgel
authors.forename: Joachim
authors.initials: J
authors.lastname: Pohlenz
authors.forename: Hans G
authors.initials: HG
authors.lastname: Koch
authors.forename: Jurgen H
authors.initials: JH
authors.lastname: Bramswig
mesh_terms: D013956:Antithyroid Agents / Q000627:therapeutic use*; D002231:Carbimazole / Q000627:therapeutic use*; D006579:Heterozygote; D006801:Humans; D006980:Hyperthyroidism / Q000188:drug therapy* / Q000235:genetics*; D007231:Infant, Newborn; D017354:Point Mutation; D011989:Receptors, Thyrotropin / Q000235:genetics*; D013997:Time Factors
chemical_list: D013956:Antithyroid Agents; D011989:Receptors, Thyrotropin; D002231:Carbimazole