Clinical Case Reports (Nov 2022)

Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole

  • Imen Rezgani,
  • Melika Chihaoui,
  • Ibtissem Oueslati,
  • Fatma Chaker,
  • Sonia Nagi,
  • Meriem Yazidi

DOI
https://doi.org/10.1002/ccr3.6543
Journal volume & issue
Vol. 10, no. 11
pp. n/a – n/a

Abstract

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Abstract A 15‐year‐old girl presented with hyperactivity and behavior disorders. She had tachycardia and no goiter. Thyroid hormones were high and TSH normal. A novel mutation GLU457LYS in THRB gene was observed. Methimazole and propranolol improved clinical symptoms but increased TSH level.

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