Case reports of familial non-autoimmune hyperthyroidism in two Malaysian families due to germline-activating mutations in the thyrotropin receptor gene

Case reports of familial non-autoimmune hyperthyroidism in two Malaysian families due to germline-activating mutations in the thyrotropin receptor gene

Hyperthyroidism occurs less commonly than hypothyroidism in children. Hyperthyroidism in children is mostly due to autoimmunity, predominantly as a result of Graves' disease. Non-autoimmune hyperthyroidism (NAH), caused by activating mutations in the thyroid-stimulating hormone receptor (TSHR)...

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Bibliographic Details
Main Authors: Ali, J.M (Author), Ling, W.L (Author), Nor, N.S.M (Author)
Format: Article
Language:English
Published: Touch Briefings, 2020
Subjects:
Activating mutation
Article
body weight gain
carbimazole
case report
child
clinical article
disease severity
DNA sequencing
echography
exon
family history
female
free thyroxine index
genetic code
genotype
germline mutation
goiter
Goiter
Graves disease
Graves' disease
heterozygosity
human
hyperthyroidism
hyperthyroxinemia
Malaysian
mitral valve regurgitation
Non-autoimmune hyperthyroidism
onset age
school child
symptom
tachycardia
Thyroid-stimulating hormone receptor
thyrotoxicosis
thyrotropin receptor
thyrotropin receptor gene
thyroxine
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