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 ChakerSonia NagiMeriem Yazidi

Published in: Clinical case reports (2022)

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.

Keyphrases

copy number
genome wide
genome wide identification
case report
dna methylation
depressive symptoms
transcription factor
physical activity