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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.
Autores principales: | Rezgani, Imen, Chihaoui, Melika, Oueslati, Ibtissem, Chaker, Fatma, Nagi, Sonia, Yazidi, Meriem |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
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 |
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