A Case of Resistance to Thyroid Hormone with Chronic Thyroiditis: Discovery of a Novel Mutation (I54V)

Kammoun, Inès; Bouzid, C.; Kandara, H.; Salem, L. Ben; Turki, Z.; Slama, C. Ben

doi:10.1155/2011/584930

Cited by 6 publications

(5 citation statements)

References 19 publications

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“…HT is a common type of AITD worldwide, whereas RTH is a rare condition and so the coexistence of these two diseases is considered to be incidental ( 5 ). In the last decade, the coexistence of RTH and AITD has become increasingly prevalent in single patients ( 31 , 32 ) and also in families with RTH ( 33 , 34 ). Since the TSH level is unsuppressed or abnormally increased, in comparison with serum TH concentrations, a number of studies hypothesized that chronic stimulation of TSH in RTH may activate the intra-thyroidal lymphocytes, leading to thyroid damage and autoimmune thyroiditis including HT ( 35 ).…”

Section: Discussionmentioning

confidence: 99%

BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review

Wanjia

Liu

et al. 2017

Oncology Letters

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Resistance to thyroid hormone (RTH) is a rare autosomal hereditary disorder characterized by increased serum thyroid hormone (TH) levels with unsuppressed or increased thyrotropin concentration. It remains unknown whether the coexistence of RTH with papillary thyroid carcinoma (PTC) and Hashimoto thyroiditis (HT) is incidental or whether it possesses a genetic or pathophysiological association. In the present study, a case of RTH with PTC and HT in an 11-year-old Chinese patient was examined and the clinical presentation of RTH with PTC was discussed. In addition, the possible associations between RTH, PTC and HT were determined. HT was confirmed in the patient using an autoimmune assay and thyroid ultrasound. RTH was diagnosed on the basis of clinical manifestations, laboratory information and gene analysis, and PTC was diagnosed according to histological results. Results of BRAFV600E mutation analysis were positive. A literature review of 14 cases of RTH with PTC was included for comparison. The present case report indicates an association of RTH with PTC and HT coexistence in the patient. Close follow-up, histological evaluation and BRAFV600E mutation detection should be performed in each RTH case with HT, since a persistent increase in TSH may be a risk factor for the development of thyroid neoplasm.

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Section: Discussionmentioning

confidence: 99%

BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review

Wanjia

Liu

et al. 2017

Oncology Letters

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“…For a while, the thyroid autoimmune process in our patient was detectable only on level of positive thyroid autoantibodies and later it manifested with increasing level of thyroid autoantibodies, ultrasonographic changes consistent with inflammation and overt clinical hypothyroidism with increased levels of TSH (compared to the usual in this patient) - established the diagnosis of HT and prompted treatment with thyroid hormone replacement which is ongoing at this point in time [24]. The association between autoimmunity and RTH and the possible underlying mechanisms remain anecdotal [25] and there are isolated reports of both RTH associated with Graves disease [26–30] and Hashimoto thyroiditis [31–36] – all emphasising the diagnostic and management challenges posed by these associations, cautioning about the possibility of erroneous diagnosis and treatment.…”

Section: Discussionmentioning

confidence: 99%

Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones

et al. 2019

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Background Resistance to thyroid hormones is a very rare condition, which is often misdiagnosed and mistreated. The cases where there is a concomitant autoimmune thyroid disorder are ultra-rare and particularly challenging to treat. Diagnostic and research-based genomic testing can sometimes identify pathogenic variants unrelated to the primary reason for testing (incidental findings). Case presentation We present a patient with thyroid resistance associated with hypothyroid Hashimoto thyroiditis. The long diagnostic odyssey spanning over 20-years included repeated misdiagnoses and mistreatments and was concluded by a research-based genomic testing, identifying a “de novo” THRB pathogenic variant. The varying sensitivity of various tissues to thyroid hormones accompanied by hypothyroid Hashimoto thyroiditis continues to pose a significant treatment challenge. Conclusions Thyroid hormone resistance continues to be an un(der)- and misdiagnosed thyroid condition whose management is particularly challenging when associated with autoimmune thyroid disease. Whole exome sequencing has the potential to identify THRB pathogenic variants as incidental findings. Reporting such secondary findings from genomic testing may be particularly important in the context of the rarity of the condition and the potential clinical consequences of misdiagnosis and mistreatment.

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“…In this study, four of five members in a family with RTHβ caused by K432I and concurrent AITD presented with overt thyrotoxicosis or overt hypothyroidism (Tables 1, 6, and 7). In the past, several RTHβ cases have been reported showing changes in thyroid function due to chronic thyroiditis (16)(17)(18), Graves' disease (19)(20)(21)(22)(23)(24)(25)(26), and painless thyroiditis (27,28), which required treatment.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone

Okazaki-Hada

Nishihara

Hisakado

et al. 2022

European Journal of Endocrinology

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Objective Resistance to thyroid hormone beta (RTHβ) is an inherited syndrome caused by mutations in the thyroid hormone receptor β (THRB) gene. Patients with RTHβ typically have elevated thyroid hormone levels with non-suppressed serum thyroid-stimulating hormone (TSH). We aimed to elucidate the clinical, laboratory, and imaging findings of RTHβ patients and further to explore their association with THRB gene mutations. Design and methods We retrospectively reviewed the clinical charts and compared the clinical findings of 68 RTHβ patients (45 probands and 23 relatives) and 30 unaffected relatives in Kuma Hospital. Results Genetic testing revealed 35 heterozygous THRB gene mutations. Among all RTHβ patients, autoimmune thyroid disease (AITD) was detected in 42.1% of men and 40.9% of women, showing that the prevalence of AITD in affected males was significantly higher than in unaffected relatives (P = 0.019). During the follow-up of 44 patients, 13 patients (29.5%; 8 (42.1%) with AITD and 5 (20%) without AITD) temporarily showed thyroid function test results inconsistent with RTHβ. Two patients with the R383H mutation, which has little dominant-negative effect, temporarily showed normal thyroid hormone and TSH levels without AITD. Conclusions The frequency of AITD in male RTHβ patients was significantly higher compared to unaffected relatives. More than 20% of RTHβ patients temporarily showed laboratory findings atypical of RTHβ during their follow-up, and patients with AITD and specific THRB mutations were prone to display such findings. Therefore, genetic testing should be performed even for patients with fluctuations in thyroid function test results to avoid misdiagnosis and inappropriate treatment.

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A Case of Resistance to Thyroid Hormone with Chronic Thyroiditis: Discovery of a Novel Mutation (I54V)

Cited by 6 publications

References 19 publications

BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review

BRAFV600E mutation contributes papillary thyroid carcinoma and Hashimoto thyroiditis with resistance to thyroid hormone: A case report and literature review

Genomic test ends a long diagnostic odyssey in a patient with resistance to thyroid hormones

Autoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone

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