6533b871fe1ef96bd12d118d

RESEARCH PRODUCT

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

Joachim PohlenzSilvia KrügerNicole PfarrVolker Hesse

subject

AdultMaleendocrine systemmedicine.medical_specialtyendocrine system diseasesAsymptomaticHyperthyroidismThyrotropin receptorTSHR Gene MutationGermline mutationInternal medicineMedicineMissense mutationHumansPoint MutationGeneSubclinical infectionbusiness.industryPoint mutationInfantReceptors ThyrotropinGeneral Medicineeye diseasesPedigreeEndocrinologyPediatrics Perinatology and Child HealthCancer researchFemalemedicine.symptombusinesshormones hormone substitutes and hormone antagonists

description

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.

yearjournalcountryeditionlanguage
2006-11-30Acta paediatrica (Oslo, Norway : 1992)
10.1080/08035250600774122https://pubmed.ncbi.nlm.nih.gov/17129985