Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene

Haruo Mizuno, Keisuke Kanda, Yukari Sugiyama, Hiroki Imamine, Tetsuya Ito, Ineko Kato, Hajime Togari, Tomohiro Kamoda, Kazumichi Onigata

研究成果: ジャーナルへの寄稿学術論文査読

16 被引用数 (Scopus)

抄録

Background/Aim: The R450H mutation of the TSH receptor (TSHR) gene has been frequently observed in Japanese patients with resistance to TSH. The purpose of this study was to clarify the phenotype of patients with a homozygous R450H mutation of the TSHR gene; the mutant receptor has previously demonstrated moderately impaired function in vitro. Methods: We performed a clinical investigation of 5 Japanese patients who had hyperthyrotropinemia as neonates, in whom a homozygous R450H mutation of the TSHR gene had been demonstrated by genetic sequencing analysis. Results: The thyroid hormone levels of the patients were normal in early infancy, although their serum levels of TSH were mildly elevated. After supplemental treatment with levothyroxine sodium (L-T4) was started, we had to increase the dose to maintain the level of TSH within the normal range in all patients. Thyroid dysfunction became obvious in one patient at reexamination during adolescence when L-T4 treatment was stopped for 1 month. Four patients were examined for intelligence quotient and their scores were normal. Conclusions: Thyroid hormone replacement therapy should be considered based on biological data in patients with hyperthyrotropinemia who have a homozygous R450H mutation of the TSHR gene even if they do not exhibit obvious hypothyroidism in infancy.

本文言語英語
ページ(範囲)318-323
ページ数6
ジャーナルHormone Research
71
6
DOI
出版ステータス出版済み - 06-2009
外部発表はい

All Science Journal Classification (ASJC) codes

  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

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