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Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)
Author(s) -
POHLENZ JOACHIM,
PFARR NICOLE,
KRÜGER SILVIA,
HESSE VOLKER
Publication year - 2006
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1080/08035250600774122
Subject(s) - thyrotropin receptor , subclinical infection , medicine , mutation , gene , point mutation , endocrinology , germline mutation , germline , receptor , thyroid , genetics , graves' disease , biology
Abstract 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.