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

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.

Detalles Bibliográficos
Autores principales: Rezgani, Imen, Chihaoui, Melika, Oueslati, Ibtissem, Chaker, Fatma, Nagi, Sonia, Yazidi, Meriem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9638043/
https://www.ncbi.nlm.nih.gov/pubmed/36381023
http://dx.doi.org/10.1002/ccr3.6543
Descripción
Sumario: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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