Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole
- Resource Type
- article
- Authors
- Imen Rezgani; Melika Chihaoui; Ibtissem Oueslati; Fatma Chaker; Sonia Nagi; Meriem Yazidi
- Source
- Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
- Subject
- anti‐thyroid drug
hyperthyroidism
THRB, GLU457LYS
thyroid hormone receptor gene
thyroid hormone resistance
Medicine
Medicine (General)
R5-920
- Language
- English
- ISSN
- 2050-0904
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.