Allelic Frequency of -318C/T, A49G and CT60 CTLA-4 and R620W PTPN22 Polymorphisms in a Brazilian Pediatric Population with Graves Disease and Hashimoto Thyroiditis

2011 ◽  
pp. P1-686-P1-686
Author(s):  
Marcia R Bedin ◽  
Ericka Trarbarch ◽  
Gil Guerra Junior ◽  
Durval Damiani ◽  
Suemi Marui
Keyword(s):  
Pediatric Population ◽  
Hashimoto Thyroiditis ◽  
Allelic Frequency ◽  
Graves Disease

Evaluation of long-term follow-up and methimazole therapy outcomes of pediatric Graves’ disease: a single-center experience

2019 ◽  
Vol 32 (4) ◽  
pp. 341-346 ◽  
Author(s):  
Elvan Bayramoğlu ◽  
Selin Elmaogulları ◽  
Elif Sagsak ◽  
Zehra Aycan
Keyword(s):  
Remission Rate ◽  
Pediatric Population ◽  
Clinical Signs ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Free Triiodothyronine ◽  
Management Options ◽  
Single Center Experience ◽  
Male Sex

Abstract Background The management options for Graves’ disease in children are limited and there is controversy regarding optimal treatment. Remission rate with anti-thyroid drug (ATD) treatment in children is said to be lower than in adults. Definitive treatments are effective, but they often result in permanent hypothyroidism. The objective of this study was to investigate the outcome of methimazole treatment, identify significant predictors of a remission and evaluate the adverse effects of methimazole in a pediatric population of GD patients. Methods Medical records of the patients who had been diagnosed with Graves’ disease were screened retrospectively. Diagnostic criteria included elevated free thyroxine (fT4) and total triiodothyronine (T3), suppressed thyroid-stimulating hormone (TSH) and either positive thyroid-stimulating immunoglobulin (TSI) or thyroid receptor antibodies (TRABs) or clinical signs suggestive of Graves’ disease, for example, exophthalmos. Remission was defined as maintenance of euthyroidism for more than 12 months after discontinuing methimazole treatment. Results Of the 48 patients, provisional remission was achieved in 21 patients. Of the 21 patients, 14 experienced a relapse (66.6%). Remission was achieved in seven (24.1%) of 29 patients who received methimazole treatment for more than 2 years. In patients who achieved long-term remission, the male sex ratio and fT4 levels at diagnosis were significantly lower than the relapsed and non-remission groups, whereas the free triiodothyronine (fT3)/fT4 ratio and duration of methimazole treatment were significantly higher than the relapse group. Conclusions Long-term methimazole treatment in pediatric Graves’ disease would be appropriate. High fT4 levels at the time of diagnosis and male sex were associated with a risk of relapse.

Polymorphisms of IRAK1 Gene on X Chromosome Is Associated with Hashimoto Thyroiditis in Korean Children

Endocrinology ◽  
2020 ◽  
Vol 161 (8) ◽  
Author(s):  
Hye-Ri Shin ◽  
Won Kyoung Cho ◽  
In-Cheol Baek ◽  
Na Yeong Lee ◽  
Yoon Ji Lee ◽  
...  
Keyword(s):  
X Chromosome ◽  
Hashimoto Thyroiditis ◽  
Categorical Variables ◽  
Graves Disease ◽  
Strong Linkage Disequilibrium ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Korean Children ◽  
Autoimmune Thyroid ◽  
Thyroid Associated Ophthalmopathy

Abstract Autoimmune thyroid disease (AITD) is predominant in females and has been focused on the sexual diploid in immune response. The IL-1 receptor-associated kinase 1 (IRAK1) gene on the X chromosome was recently suggested as strong autoimmune disease-susceptible loci, second to the major histocompatibility complex region. We investigated the frequency of IRAK1 single-nucleotide polymorphisms (SNPs) in children with AITD. In this study, we observed that SNPs of IRAK1 including rs3027898, rs1059703, and rs1059702 in 115 Korean AITD pediatric patients (Graves’ disease = 74 [females = 52/males = 22]; Hashimoto disease [HD] = 41 [females = 38/males = 3]; thyroid-associated ophthalmopathy [TAO] = 40 (females = 27/males = 13); without TAO = 75 (females = 63/males = 12); total males = 25, total females = 90; mean age = 11.9 years) and 204 healthy Korean individuals (males = 104/females = 100). The data from cases and controls were analyzed from separate sex-stratified or all combined by χ 2 test for categorical variables and Student t test for numerical variables. Our study revealed that SNPs of IRAK1-associated HD and without TAO but Graves’ disease and TAO were not found significant. When cases and controls were analyzed by separate sex, we found that rs3027898 AA, rs1059703 AA, and rs1059702 GG showed disease susceptibility in female AITD, HD, and without TAO. Also, all rs3027898, rs1059703, and rs1059702 were found to be in strong linkage disequilibrium (D′ = 0.96-0.98, r2 = 0.83–0.97). The haplotype of 3 SNPs was higher in AITD than in controls (CGA, r2 = 5.42, P = 0.019). Our results suggest that IRAK1 polymorphisms may contribute to the pathogenesis of HD, AITD, and without thyroid-associated ophthalmopathy for females.

Association of Vitamin D Pathway Gene CYP27B1 and CYP2R1 Polymorphisms with Autoimmune Endocrine Disorders: A Meta-Analysis

2020 ◽  
Vol 105 (11) ◽  
Author(s):  
Xiaoxi Ma ◽  
Zhiguo Xie ◽  
Jiabi Qin ◽  
Shuoming Luo ◽  
Zhiguang Zhou
Keyword(s):  
Vitamin D ◽  
Type 1 Diabetes ◽  
Meta Analysis ◽  
Hashimoto Thyroiditis ◽  
Minor Allele ◽  
Graves Disease ◽  
Endocrine Disorders ◽  
Organ Specific ◽  
Allele Model

Abstract Background Studies on organ-specific autoimmune endocrine disorders showed correlations between disease risks and vitamin D pathways gene variants, such as CYP27B1 rs10877012 and rs4646536, or CYP2R1 rs10741657 single nucleotide polymorphisms. However, previous works presented inconsistent conclusions. Our study aimed at assessing the association of CYP27B1 and CYP2R1 polymorphisms with autoimmune endocrine disorder susceptibility using the meta-analysis method. Methods Case-control studies of the subject of interest were identified from the databases Pubmed, Embase, Cochrane Library, and China National Knowledge Infrastructure. Studies that met inclusion and quality criteria were pooled. Observational outcomes were diagnosis of autoimmune Addison’s disease, Graves disease, Hashimoto thyroiditis, or type 1 diabetes mellitus. Statistical analysis was performed using software STATA 16.0. Results A total of 14 studies involving 12 929 patients (2243 autoimmune Addison disease, 1253 Graves disease, 612 Hashimoto thyroiditis, 8821 type 1 diabetes), and 12 907 healthy control subjects were pooled for meta-analysis. The rs10877012 minor allele A and its homozygote and heterozygote conferred low overall disease risk (OR [odds ratio] = 0.748, 95% CI [confidence interval] 0.620-0.902 in dominant model; OR = 0.709, 95% CI 0.571-0.879 in recessive model; OR = 0.777, 95% CI 0.674-0.895 in the allele model). The population carrying rs4646536 minor allele C and its homozygote and heterozygote showed decreased overall autoimmune endocrine disorders risk (OR = 0.849, 95% CI 0.748-0.963; OR = 0.868, 95% CI 0.790-0.955; OR = 0.915, 95% CI 0.875-0.957 in the dominant, recessive, and allele model, respectively). No significant genetic association was found for rs10741657. Conclusion Our study suggested CYP27B1 polymorphisms rs10877012 minor allele A and rs4646536 minor allele C were negatively related to susceptibilities of organ-specific autoimmune endocrine diseases.

scholarly journals Transformation of hashimoto thyroiditis to Graves’ disease

2017 ◽  
Vol 1 (3) ◽  
Author(s):  
Stella Pak ◽  
Damian Valencia ◽  
Adam Fershko
Keyword(s):  
Hashimoto Thyroiditis ◽  
Graves Disease

TSH RECEPTOR ANTIBODIES: RELEVANCE & UTILITY

2020 ◽  
Vol 26 (1) ◽  
pp. 97-106 ◽  
Author(s):  
George J. Kahaly ◽  
Tanja Diana ◽  
Paul D. Olivo
Keyword(s):  
Differential Diagnosis ◽  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Hashimoto Thyroiditis ◽  
Rapid Diagnosis ◽  
Tsh Receptor ◽  
Graves Disease ◽  
Thyrotropin Receptor ◽  
Blocking Antibody ◽  
Autoimmune Thyroid

Objective: Antibodies (Abs) to the thyrotropin (TSH) receptor (TSH-R) play an important role in the pathogenesis of autoimmune thyroid disease (AITD). We define the complex terminology that has arisen to describe TSH-R-Abs, review the mechanisms of action of the various types of TSH-R-Abs, and discuss significant advances that have been made in the development of clinically useful TSH-RAb assays. Methods: Literature review and discussion. Results: TSH-R-Abs may mimic or block the action of TSH or be functionally neutral. Stimulating TSH-R-Abs are specific biomarkers for Graves disease (GD) and responsible for many of its clinical manifestations. TSH-R-Abs may also be found in patients with Hashimoto thyroiditis in whom they may contribute to the hypothyroidism of the disease. Measurement of TSH-R-Abs in general, and functional Abs in particular, is recommended for the rapid diagnosis of GD, differential diagnosis and management of patients with AITD, especially during pregnancy, and in AITD patients with extrathyroidal manifestations such as orbitopathy. Measurement of TSH-R-Abs can be done with either immunoassays that detect specific binding of Abs to the TSH-R or cell-based bioassays that also provide information on their functional activity and potency. Application of molecular cloning techniques has led to significant advances in methodology that have enabled the development of clinically useful bioassays. When ordering TSH-R-Ab, clinicians should be aware of the different tests available and how to interpret results based on which assay is performed. The availability of an international standard and continued improvement in bioassays will help promote their routine performance by clinical laboratories and provide the most clinically useful TSH-R-Ab results. Conclusion: Measurement of TSH-R-Abs in general, and functional (especially stimulating) Abs in particular, is recommended for the rapid diagnosis, differential diagnosis, and management of patients with Graves hyperthyroidism, related thyroid eye disease, during pregnancy, as well as in Hashimoto thyroiditis patients with extra-thyroidal manifestations and/or thyroid-binding inhibiting immunoglobulin positivity. Abbreviations: Ab = antibody; AITD = autoimmune thyroid disease; ATD = antithyroid drug; cAMP = cyclic adenosine 3′,5′-monophosphate; ELISA = enzyme-linked immunosorbent assay; GD = Graves disease; GO = Graves orbitopathy; HT = Hashimoto thyroiditis; MAb = monoclonal antibody; TBAb = thyrotropin receptor blocking antibody; TBII = thyroid-binding inhibiting immunoglobulin; TSAb = thyrotropin receptor–stimulating antibody; TSB-Ab or TRBAb = thyrotropin receptor–stimulating blocking antibody; TSH = thyrotropin; TSH-R = thyrotropin receptor

A rare case of Graves’ disease development from Hashimoto thyroiditis

2021 ◽  
Author(s):  
Kristapone Jelena Vainikonyte ◽  
Ernesta Samuiloviene ◽  
Gintaras Kuprionis
Keyword(s):  
Rare Case ◽  
Hashimoto Thyroiditis ◽  
Graves Disease ◽  
Disease Development

T3 TOXICOSIS IN ADOLESCENCE: PRESENTATION AS RECURRENT HYPERTHYROIDISM

PEDIATRICS ◽  
1973 ◽  
Vol 52 (5) ◽  
pp. 649-652
Author(s):  
T. W. AvRuskin ◽  
S. Tang ◽  
L. Shenkman ◽  
C. S. Hollander
Keyword(s):  
Female Patient ◽  
Intravenous Infusion ◽  
Pediatric Population ◽  
Normal Serum ◽  
Thyrotropin Releasing Hormone ◽  
Graves Disease ◽  
Adolescent Patient ◽  
Serum T3 ◽  
Recurrent Hyperthyroidism ◽  
Serum Tsh

The second adolescent patient with recurrent hyperthyroidism caused by isolated hypersecretion of T3 (T3 toxicosis) has been discovered. In 1969, this 17-year-old female patient initially presented with conventional Graves' disease was treated with propylthiouracil, but discontinued her medication after three months. Two and one-half half years later, she developed clinical and laboratory tory features of recurrent Graves' disease, save for a normal total and free thyroxine (T4). Serum T3 by radioimmunoassay was elevated (210 ng/100 ml) and thyroid binding globulin capacity for T4 was normal. Serum TSH was not detectable and failed to rise after intravenous infusion of 400 mg thyrotropin-releasing hormone. Other parameters of T3 toxicosis, as noted in adults with this syndrome, were confirmed. T3 toxicosis presenting as recurrent hyperthyroidism may be more common than previously recognized in the pediatric population.

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