Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole
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.
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2022-11-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.6543 |
| _version_ | 1828092625415045120 |
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| author | Imen Rezgani Melika Chihaoui Ibtissem Oueslati Fatma Chaker Sonia Nagi Meriem Yazidi |
| author_facet | Imen Rezgani Melika Chihaoui Ibtissem Oueslati Fatma Chaker Sonia Nagi Meriem Yazidi |
| author_sort | Imen Rezgani |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T06:31:40Z |
| format | Article |
| id | doaj.art-5723e4117ebb419b965182d4e6a66d28 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-04-11T06:31:40Z |
| publishDate | 2022-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-5723e4117ebb419b965182d4e6a66d282022-12-22T04:40:01ZengWileyClinical Case Reports2050-09042022-11-011011n/an/a10.1002/ccr3.6543Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazoleImen Rezgani0Melika Chihaoui1Ibtissem Oueslati2Fatma Chaker3Sonia Nagi4Meriem Yazidi5Department of Endocrinology, Faculty of medicine of Tunis, University Hospital La Rabta University Tunis El Manar Tunis TunisiaDepartment of Endocrinology, Faculty of medicine of Tunis, University Hospital La Rabta University Tunis El Manar Tunis TunisiaDepartment of Endocrinology, Faculty of medicine of Tunis, University Hospital La Rabta University Tunis El Manar Tunis TunisiaDepartment of Endocrinology, Faculty of medicine of Tunis, University Hospital La Rabta University Tunis El Manar Tunis TunisiaDepartment of neuroradiology, National Institute of neurology, Faculty of medicine of Tunis University Tunis El Manar Tunis TunisiaDepartment of Endocrinology, Faculty of medicine of Tunis, University Hospital La Rabta University Tunis El Manar Tunis TunisiaAbstract 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.https://doi.org/10.1002/ccr3.6543anti‐thyroid drughyperthyroidismTHRB, GLU457LYSthyroid hormone receptor genethyroid hormone resistance |
| spellingShingle | Imen Rezgani Melika Chihaoui Ibtissem Oueslati Fatma Chaker Sonia Nagi Meriem Yazidi Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole Clinical Case Reports anti‐thyroid drug hyperthyroidism THRB, GLU457LYS thyroid hormone receptor gene thyroid hormone resistance |
| title | Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole |
| title_full | Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole |
| title_fullStr | Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole |
| title_full_unstemmed | Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole |
| title_short | Thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor‐beta gene (THRB, GLU457LYS) treated with methimazole |
| title_sort | thyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor beta gene thrb glu457lys treated with methimazole |
| topic | anti‐thyroid drug hyperthyroidism THRB, GLU457LYS thyroid hormone receptor gene thyroid hormone resistance |
| url | https://doi.org/10.1002/ccr3.6543 |
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