Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)

Acta Paediatr. 2006 Dec;95(12):1685-7. doi: 10.1080/08035250600774122.


Aim: To identify the molecular defect by which non-autoimmune subclinical hyperthyroidism was caused in a 6-mo-old infant who presented with weight loss.

Methods: Congenital non-autoimmune hyperthyroidism is caused by activating germline mutations in the thyrotropin receptor (TSHR) gene. Therefore, the TSHR gene was sequenced directly from the patient's genomic DNA.

Results: Molecular analysis revealed a heterozygous point mutation (S505R) in the TSHR gene as the underlying defect.

Conclusion: A constitutively activating mutation in the TSHR gene has to be considered not only in patients with severe congenital non-autoimmune hyperthyroidism, but also in children with subclinical non-autoimmune hyperthyroidism.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Female
  • Humans
  • Hyperthyroidism / blood
  • Hyperthyroidism / classification
  • Hyperthyroidism / genetics*
  • Infant
  • Male
  • Pedigree
  • Point Mutation / genetics*
  • Receptors, Thyrotropin / genetics*


  • Receptors, Thyrotropin