Thyroid hormone resistance misdiagnosed as Graves' disease
Resistance to thyroid hormone (RTH) syndrome is a very rare disorder characterized by mutations of the thyroid hormone receptor beta and is usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but rarely may present with signs and symptoms consistent with hyperth...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | CHRISMED Journal of Health and Research |
| Subjects: | |
| Online Access: | http://www.cjhr.org/article.asp?issn=2348-3334;year=2017;volume=4;issue=2;spage=144;epage=146;aulast=Gutch |
| _version_ | 1818508449028243456 |
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| author | Manish Gutch Annesh Bhattacharya Sukriti Kumar Syed Mohd Razi Rao Somendra Singh Rajendra Kumar Pahan |
| author_facet | Manish Gutch Annesh Bhattacharya Sukriti Kumar Syed Mohd Razi Rao Somendra Singh Rajendra Kumar Pahan |
| author_sort | Manish Gutch |
| collection | DOAJ |
| description | Resistance to thyroid hormone (RTH) syndrome is a very rare disorder characterized by mutations of the thyroid hormone receptor beta and is usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but rarely may present with signs and symptoms consistent with hyperthyroidism. Here, we describe the case of a young girl with goiter who was previously misdiagnosed to have hyperthyroidism and was subsequently diagnosed to be suffering from RTH. |
| first_indexed | 2024-12-10T22:32:02Z |
| format | Article |
| id | doaj.art-20fe25a1f96b4d6a9946049c89c46ab5 |
| institution | Directory Open Access Journal |
| issn | 2348-3334 2348-506X |
| language | English |
| last_indexed | 2024-12-10T22:32:02Z |
| publishDate | 2017-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | CHRISMED Journal of Health and Research |
| spelling | doaj.art-20fe25a1f96b4d6a9946049c89c46ab52022-12-22T01:31:02ZengWolters Kluwer Medknow PublicationsCHRISMED Journal of Health and Research2348-33342348-506X2017-01-014214414610.4103/cjhr.cjhr_122_16Thyroid hormone resistance misdiagnosed as Graves' diseaseManish GutchAnnesh BhattacharyaSukriti KumarSyed Mohd RaziRao Somendra SinghRajendra Kumar PahanResistance to thyroid hormone (RTH) syndrome is a very rare disorder characterized by mutations of the thyroid hormone receptor beta and is usually inherited as an autosomal dominant trait. Patients with RTH are usually euthyroid but rarely may present with signs and symptoms consistent with hyperthyroidism. Here, we describe the case of a young girl with goiter who was previously misdiagnosed to have hyperthyroidism and was subsequently diagnosed to be suffering from RTH.http://www.cjhr.org/article.asp?issn=2348-3334;year=2017;volume=4;issue=2;spage=144;epage=146;aulast=GutchHyperthyroidismneurophysiologic abnormalitiesresistance to thyroid hormone syndromethyroid hormone receptor beta |
| spellingShingle | Manish Gutch Annesh Bhattacharya Sukriti Kumar Syed Mohd Razi Rao Somendra Singh Rajendra Kumar Pahan Thyroid hormone resistance misdiagnosed as Graves' disease CHRISMED Journal of Health and Research Hyperthyroidism neurophysiologic abnormalities resistance to thyroid hormone syndrome thyroid hormone receptor beta |
| title | Thyroid hormone resistance misdiagnosed as Graves' disease |
| title_full | Thyroid hormone resistance misdiagnosed as Graves' disease |
| title_fullStr | Thyroid hormone resistance misdiagnosed as Graves' disease |
| title_full_unstemmed | Thyroid hormone resistance misdiagnosed as Graves' disease |
| title_short | Thyroid hormone resistance misdiagnosed as Graves' disease |
| title_sort | thyroid hormone resistance misdiagnosed as graves disease |
| topic | Hyperthyroidism neurophysiologic abnormalities resistance to thyroid hormone syndrome thyroid hormone receptor beta |
| url | http://www.cjhr.org/article.asp?issn=2348-3334;year=2017;volume=4;issue=2;spage=144;epage=146;aulast=Gutch |
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