Genetics of Thyroid Disorders

Cortés, Jessica María Rodríguez; Zerón, Hugo Mendieta

doi:10.2478/folmed-2018-0078

Cited by 23 publications

(17 citation statements)

References 42 publications

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“…Other studies have not demonstrated a significant influence of variation in the gene for this enzyme on T4 requirement in hypothyroid patients [48], or on patient-reported outcomes on (or preference for) treatment with LT4 + T3 combination therapy [49]. Further research will be needed to confirm whether genetic variations in deiodinases, and indeed in other sites of cellular access or action of thyroid hormones (such as membrane transporters, nuclear receptors and other sites) may facilitate individualised treatment of hypothyroid patients in the future [44,[50][51][52].…”

Section: Possible Explanations For Continuing Symptoms Despite 'Adequmentioning

confidence: 99%

Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Razvi

Mrabeti²,

Luster

2020

Endocrine Connections

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The current standard of care for hypothyroidism is levothyroxine (LT4) monotherapy to reduce levels of thyrotropin (thyroid stimulating hormone, TSH) to within its reference range and amelioration of any symptoms. A substantial minority continue to report hypothyroid-like symptoms despite optimised TSH, however. These symptoms are not specific to thyroid dysfunction and are frequent among the euthyroid population, creating a therapeutic dilemma for the treating clinician as well as the patient. We present a concise, narrative review of the clinical research and evidence-based guidance on the management of this challenging population. The clinician may endeavour to ensure that the serum TSH is within the target range. However, the symptomatic patient may turn to alternative non-evidence-based therapies in the hope of obtaining relief. Accordingly, it is important for the clinician to check for conditions unrelated to the thyroid that could account for the ongoing symptoms such as other autoimmune conditions, anaemia or mental health disorders. Systematic and thorough investigation of the potential causes of persistent symptoms while receiving LT4 therapy will resolve the problem for most patients. There may be some patients that may benefit from additional treatment with liothyronine (LT3), although it is unclear as yet as to which patient group may benefit the most from combined LT4 + LT3 therapy. In the future, personalised treatment with LT4 + LT3 may be of benefit for some patients with persistent symptoms of hypothyroidism such as those with polymorphisms in the deiodinase enzyme 2 (DIO2). For now, this remains a subject for research.

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Section: Possible Explanations For Continuing Symptoms Despite 'Adequmentioning

confidence: 99%

Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Razvi

Mrabeti²,

Luster

2020

Endocrine Connections

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“…Loss-of-function mutations in NF1 lead to uncontrollable activation of kinase and tumorigenesis. Also, the RET protooncogene encodes a receptor tyrosine kinase that mediates extracellular neurotropic signaling to intracellular transduction pathways including the MAPK/ERK pathway ( 24 ). We think that these two diseases occurred coincidentally, because MTC in our patient does not have a common etiological pathway with the NF1, according to the evidence concerning both the NF1 gene and the RET oncogene.…”

Section: Discussionmentioning

confidence: 99%

Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both NF1 and Homozygous RET Proto-oncogen Germ-line Mutations

Gündoğan¹,

Sağcan²,

Bozdoğan³

et al. 2021

Jcrpe

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Cases of neurofibromatosis type 1 (NF1)-associated medullary thyroid carcinoma (MTC) or C-cell hyperplasia are rarely associated with other endocrine tumors or cases with a multiple endocrine neoplasia type 2. In these patients, mutations were detected in the NF1 gene but no mutations were detected in the RET gene. Although vandetanib has been shown to improve progression-free survival in adults with advanced MTC, data in pediatric patients are limited. Herein, we report the use and outcome of vandetanib in a pediatric MTC case in which NF1 gene and RET proto-oncogen mutation were identified together.

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“…First, the incidences of hyperthyroidism are higher in those with a positive family history [3-5], and genetic background is certainly one of the biggest contributing factors of this family aggregation phenomenon. Second, previous candidate genetic association studies and genome-wide association studies have also identified many predisposing loci of hyperthyroidism in different ethnic groups [6-8]. Nevertheless, most genetic contributing factors for hyperthyroidism are still unexplored and thus require intensive explorations and analyses.…”

Section: Introductionmentioning

confidence: 99%

Predisposition to Hyperthyroidism May Be Influenced by Functional TNF-α, IL-1, IL-6, and IL-10 Polymorphisms: A Meta-Analysis

Tan

et al. 2020

Int Arch Allergy Immunol

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Background: Predisposition to hyperthyroidism may be influenced by functional gene polymorphisms in tumor necrosis factor-α (TNF-α), interleukin-1 (IL-1), interleukin-4 (IL-4), interleukin-6 (IL-6), and interleukin-10 (IL-10). However, the results of the studies published so far remain discrepant, so we conducted a meta-analysis to more robustly investigate relationships between TNF-α/IL-1/IL-4/IL-6/IL-10 polymorphisms and predisposition to hyperthyroidism. Methods: A comprehensive literature retrieval from PubMed, Embase, Web of Science, WanFang, VIP, and CNKI was endorsed by the authors, and 38 studies were found to be eligible for pooled meta-analyses. Results: We found that genotypic frequencies of TNF-α −308 G/A, IL-1A −889 C/T, IL-6 −174 G/C, IL-6 −572 G/C, IL-10 −819 C/T, and IL-10 −1082 A/G polymorphisms among cases were significantly different from those among controls. Moreover, we also found that genotypic frequencies of TNF-α −308 G/A and IL-6 −174 G/C polymorphisms among cases of Caucasian origin were significantly different from those among Caucasian controls, and genotypic frequencies of IL-1A −889 C/T, IL-1B −511 C/T, IL-6 −174 G/C, IL-6 −572 G/C, and IL-10 −1,082 A/G polymorphisms among cases of Asian origin were also significantly different from those among Asian controls. Conclusions: This meta-analysis suggests that TNF-α −308 G/A, IL-1A −889 C/T, IL-1B −511 C/T, IL-6 −174 G/C, IL-6 −572 G/C, IL-10 −819 C/T, and IL-10 −1,082 A/G polymorphisms may influence predisposition to hyperthyroidism in certain ethnic groups.

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Genetics of Thyroid Disorders

Cited by 23 publications

References 42 publications

Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Managing symptoms in hypothyroid patients on adequate levothyroxine: a narrative review

Vandetanib in a Child Affected by Neurofibromatosis Type 1 and Medullary Thyroid Carcinoma with Both <i>NF1</i> and Homozygous <i>RET</i> Proto-oncogen Germ-line Mutations

Predisposition to Hyperthyroidism May Be Influenced by Functional TNF-α, IL-1, IL-6, and IL-10 Polymorphisms: A Meta-Analysis

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