The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults
Resistance to thyroid hormone alpha occurs due to pathogenic, heterozygous variants in THRA. The entity was first described in 2012 and to date only a small number of patients with varying severity have been reported. In this review, we summarize and interpret the heterogeneous clinical and laborato...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2021-03-01
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| Series: | JCRPE |
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| Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/the-clinical-spectrum-of-resistance-to-thyroid-hor/37340
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| _version_ | 1828023555641573376 |
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| author | İbrahim Mert Erbaş Korcan Demir |
| author_facet | İbrahim Mert Erbaş Korcan Demir |
| author_sort | İbrahim Mert Erbaş |
| collection | DOAJ |
| description | Resistance to thyroid hormone alpha occurs due to pathogenic, heterozygous variants in THRA. The entity was first described in 2012 and to date only a small number of patients with varying severity have been reported. In this review, we summarize and interpret the heterogeneous clinical and laboratory features of all published cases, including ours. Many symptoms and findings are similar to those seen in primary hypothyroidism. However, thyroid-stimulating hormone levels are normal. Free triiodothyronine (T3) levels are in the upper half of normal range or frankly high and free thyroxine (T4) levels are low or in the lower half of normal range. Alterations in free T3 and free T4 may not be remarkable, particularly in adults, possibly contributing to underdiagnosis. In such patients, low reverse T3 levels, normo- or macrocytic anemia or, particularly in children, mildly elevated creatine kinase levels would warrant THRA sequencing. Treatment with L-thyroxine results in improvement of some clinical findings. |
| first_indexed | 2024-04-10T12:29:49Z |
| format | Article |
| id | doaj.art-763ebb62c97a4c3e9415f5f36c81ce02 |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T12:29:49Z |
| publishDate | 2021-03-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-763ebb62c97a4c3e9415f5f36c81ce022023-02-15T16:14:58ZengGalenos YayincilikJCRPE1308-57271308-57352021-03-0113111410.4274/jcrpe.galenos.2020.2019.019013049054The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adultsİbrahim Mert Erbaş0Korcan Demir1 Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey Resistance to thyroid hormone alpha occurs due to pathogenic, heterozygous variants in THRA. The entity was first described in 2012 and to date only a small number of patients with varying severity have been reported. In this review, we summarize and interpret the heterogeneous clinical and laboratory features of all published cases, including ours. Many symptoms and findings are similar to those seen in primary hypothyroidism. However, thyroid-stimulating hormone levels are normal. Free triiodothyronine (T3) levels are in the upper half of normal range or frankly high and free thyroxine (T4) levels are low or in the lower half of normal range. Alterations in free T3 and free T4 may not be remarkable, particularly in adults, possibly contributing to underdiagnosis. In such patients, low reverse T3 levels, normo- or macrocytic anemia or, particularly in children, mildly elevated creatine kinase levels would warrant THRA sequencing. Treatment with L-thyroxine results in improvement of some clinical findings. http://www.jcrpe.org/archives/archive-detail/article-preview/the-clinical-spectrum-of-resistance-to-thyroid-hor/37340 constipationdevelopmental delaygrowth failurecentral hypothyroidismautism spectrum disorderlt4impaired sensitivity to thyroid hormone |
| spellingShingle | İbrahim Mert Erbaş Korcan Demir The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults JCRPE constipation developmental delay growth failure central hypothyroidism autism spectrum disorder lt4 impaired sensitivity to thyroid hormone |
| title | The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults |
| title_full | The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults |
| title_fullStr | The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults |
| title_full_unstemmed | The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults |
| title_short | The Clinical Spectrum of Resistance to Thyroid Hormone Alpha in Children and Adults |
| title_sort | clinical spectrum of resistance to thyroid hormone alpha in children and adults |
| topic | constipation developmental delay growth failure central hypothyroidism autism spectrum disorder lt4 impaired sensitivity to thyroid hormone |
| url |
http://www.jcrpe.org/archives/archive-detail/article-preview/the-clinical-spectrum-of-resistance-to-thyroid-hor/37340
|
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