Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review
Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). Mutant receptors are unable...
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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2016/7546453 |
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| author | Anastasios Anyfantakis Dimitrios Anyfantakis Irene Vourliotaki |
| author_facet | Anastasios Anyfantakis Dimitrios Anyfantakis Irene Vourliotaki |
| author_sort | Anastasios Anyfantakis |
| collection | DOAJ |
| description | Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). Mutant receptors are unable to activate or repress target genes. The majority of them are asymptomatic or rarely have hypo- or hyperthyroidism. RTH is suspected by the finding of persistent elevation of serum levels of free T3 (FT3) and free T4 (FT4) and nonsuppressed TSH. We present two cases of RTH diagnosed after total thyroidectomy. The first patient was initially diagnosed with primary hyperthyroidism due to toxic multinodular goiter. The second patient had undergone thyroidectomy for multinodular goiter 16 years before diagnosis of RTH. After thyroidectomy, although on relatively high doses of levothyroxine, both of them presented with the laboratory findings of RTH. Genetic analysis revealed RTH. |
| format | Article |
| id | doaj-art-29915bd1fc22478a95d9004cea9c3a04 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-29915bd1fc22478a95d9004cea9c3a042025-02-03T06:01:12ZengWileyCase Reports in Endocrinology2090-65012090-651X2016-01-01201610.1155/2016/75464537546453Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature ReviewAnastasios Anyfantakis0Dimitrios Anyfantakis1Irene Vourliotaki2Department of Endocrinology, Venizeleio General Hospital, Heraklion, Crete, GreecePrimary Health Care Centre of Kissamos, Chania, Crete, GreeceDepartment of Endocrinology, Venizeleio General Hospital, Heraklion, Crete, GreeceResistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes the β isoform of the receptor of thyroid hormone (THR-β gene). Mutant receptors are unable to activate or repress target genes. The majority of them are asymptomatic or rarely have hypo- or hyperthyroidism. RTH is suspected by the finding of persistent elevation of serum levels of free T3 (FT3) and free T4 (FT4) and nonsuppressed TSH. We present two cases of RTH diagnosed after total thyroidectomy. The first patient was initially diagnosed with primary hyperthyroidism due to toxic multinodular goiter. The second patient had undergone thyroidectomy for multinodular goiter 16 years before diagnosis of RTH. After thyroidectomy, although on relatively high doses of levothyroxine, both of them presented with the laboratory findings of RTH. Genetic analysis revealed RTH.http://dx.doi.org/10.1155/2016/7546453 |
| spellingShingle | Anastasios Anyfantakis Dimitrios Anyfantakis Irene Vourliotaki Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review Case Reports in Endocrinology |
| title | Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review |
| title_full | Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review |
| title_fullStr | Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review |
| title_full_unstemmed | Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review |
| title_short | Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review |
| title_sort | syndrome of reduced sensitivity to thyroid hormones two case reports and a literature review |
| url | http://dx.doi.org/10.1155/2016/7546453 |
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