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

Autor: Imen Rezgani, Melika Chihaoui, Ibtissem Oueslati, Fatma Chaker, Sonia Nagi, Meriem Yazidi
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Clinical Case Reports, Vol 10, Iss 11, Pp n/a-n/a (2022)
Druh dokumentu: article
ISSN: 2050-0904
DOI: 10.1002/ccr3.6543
Popis: 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.
Databáze: Directory of Open Access Journals
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