Graves’ disease coexisting with resistance to thyroid hormone: a rare case

Sun, Hongping; Xu, Shuhang; Xie, Shuduo; Cao, Wen; Chen, Guofang; Di, Hongjie; Ruan, Zheng; Li, Xingjia; Mao, Xiaodong; Liu, Chao

doi:10.1002/ccr3.1344

Cited by 7 publications

(6 citation statements)

References 4 publications

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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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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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“…In three cases, GD was diagnosed in patients with known RTHβ [7-9]. In 4 cases, RTHβ was discovered after several years of medical treatment for GD [10-12] or because of the difficulty in equilibrating medical treatment of iatrogenic hypothyroidism after radioiodine treatment [13]. This is the first time, to our knowledge, that RTHβ was suspected soon after initiating the medical treatment of GD.…”

Section: Discussionmentioning

confidence: 99%

Coexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone

Abdellaoui¹,

Magkou²,

Bakopoulou³

et al. 2020

Eur Thyroid J

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What Is Known about This Topic? • Both Graves' disease and autoimmune hypothyroidism were described in patients with resistance to thyroid hormone beta (RTHβ). • Undiagnosed RTHβ can lead to misdiagnosis of Graves' disease. The coexistence of these two diseases presents a diagnostic challenge. What Does This Case Report Add? • Autoimmune hypo-and hyperthyroidism may coexist in kindred with RTHβ. • A rapid increase of suppressed thyroid-stimulating hormone contrasting with persistently elevated thyroid hormones during medical treatment of Graves' disease may indicate RTHβ.

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“…However, some patients with RTH show TSH suppression during thyrotoxicosis episodes. Several reports have described patients with RTH complicated by thyrotoxic diseases, such as Graves’ disease [4–8]. TSH levels can also be suppressed in patients with RTH in combination with thyrotoxic diseases other than Graves’ disease.…”

Section: Discussionmentioning

confidence: 99%

“…RTH is characterized by elevated serum levels of FT4 or FT3 in the presence of high normal or slightly increased serum TSH concentrations. However, several reports have demonstrated that TSH is suppressed to very low or undetectable levels in patients with RTH coexisting with Graves’ disease [4–8]. In these cases, a correct diagnosis is difficult if patients are not diagnosed with RTH beforehand.…”

Section: Introductionmentioning

confidence: 99%

Painless destructive thyroiditis in a patient with resistance to thyroid hormone: a case report

et al. 2019

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BackgroundResistance to thyroid hormone (RTH) usually features a syndrome of inappropriate secretion of thyroid-stimulating hormone (SITSH) without suppression of the typical high thyroid hormone levels. However, some patients with RTH show thyroid-stimulating hormone (TSH) suppression due to thyrotoxicosis. We report a case of painless thyroiditis in a patient with RTH that was misdiagnosed as Graves’ disease because of TSH-suppressed thyrotoxicosis.Case presentationA sixteen-year-old boy consulted a local general physician for fatigue. He had a goiter, and biochemical analysis showed TSH < 0.1 μIU/mL, free triiodothyronine (FT3) of 2.70 pg/mL, and free thyroxine (FT4) of 3.6 ng/dL. He was diagnosed with Graves’ disease and was treated with 20 mg thiamazole. One year later, he was referred to the department of endocrinology because of SITSH. He was finally diagnosed with RTH due to the finding of a heterozygous missense mutation (methionine 334 threonine) in the thyroid hormone receptor β gene. Three years after cessation of thiamazole, his hyperthyroxinemia showed marked exacerbation with TSH suppression. We diagnosed him with painless destructive thyroiditis because of low technetium-99 m (Tc-99 m) uptake in the thyroid. Extreme hyperthyroxinemia was ameliorated, with a return to the usual SITSH levels, within 1 month without any treatment.ConclusionThe present case demonstrates that diagnosing RTH is difficult when patients show hyperthyroxinemia with complete suppression of TSH to undetectable levels, and the data lead to misdiagnosis of RTH as Graves’ disease. The initial diagnosis is important, and Tc-99 m scintigraphy is useful for the differential diagnosis of thyrotoxicosis accompanying RTH.

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Graves’ disease coexisting with resistance to thyroid hormone: a rare case

Cited by 7 publications

References 4 publications

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

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

Coexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone

Painless destructive thyroiditis in a patient with resistance to thyroid hormone: a case report

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