Abstract | BACKGROUND: PATIENTS AND METHODS: From 2003 through 2012, 89 hyperthyroid patients with diffuse goiter and negative TRAb based on a second- or third-generation assay underwent sequence analysis of the TSH receptor gene from peripheral leukocytes. The outcome of hyperthyroidism in patients with a TSH receptor mutation and their affected family members was compared with that in patients without any mutation after a 1-10-year follow-up. RESULTS: Germline mutations of the TSH receptor occurred in 4 of the 89 patients (4.5%), including 3 definitive constitutively activating mutations (L512Q, E575K, and D617Y). The main difference in the clinical outcome of hyperthyroidism was that no patients with a TSH receptor mutation achieved euthyroidism throughout the follow-up, while 23.5% of patients without any mutation entered remission. The progression from subclinical to overt hyperthyroidism was not significantly different between patients with or without a mutation. Meanwhile, 10.3% of TRAb-negative patients without any TSH receptor mutation developed TRAb-positive Graves' hyperthyroidism during the follow-up. CONCLUSIONS:
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Authors | Eijun Nishihara, Shuji Fukata, Akira Hishinuma, Nobuyuki Amino, Akira Miyauchi |
Journal | Thyroid : official journal of the American Thyroid Association
(Thyroid)
Vol. 24
Issue 5
Pg. 789-95
(May 2014)
ISSN: 1557-9077 [Electronic] United States |
PMID | 24279482
(Publication Type: Journal Article)
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Chemical References |
- Antithyroid Agents
- Receptors, Thyrotropin
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Topics |
- Adolescent
- Adult
- Aged
- Antithyroid Agents
(therapeutic use)
- Child
- Child, Preschool
- Disease Progression
- Drug Resistance
- Female
- Follow-Up Studies
- Genetic Association Studies
- Germ-Line Mutation
- Goiter
(etiology, prevention & control)
- Humans
- Hyperthyroidism
(congenital, diagnostic imaging, drug therapy, genetics, physiopathology)
- Japan
- Male
- Middle Aged
- Receptors, Thyrotropin
(genetics)
- Thyroid Gland
(diagnostic imaging, drug effects)
- Ultrasonography
- Young Adult
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