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Acta Paediatr. 2006 Dec;95(12):1685-7.

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

Author information

1
Children's Hospital of the Johannes Gutenberg University, Mainz, Germany. pohlenz@kinder.klinik.uni-mainz.de

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.

PMID:
17129985
DOI:
10.1080/08035250600774122
[Indexed for MEDLINE]

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