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

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Tomoko Nagamine ◽  
Jaeduk Yoshimura Noh ◽  
Naoya Emoto ◽  
Takahito Kogai ◽  
Akira Hishinuma ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormone Receptor ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Complete Suppression ◽  
Free Triiodothyronine ◽  
General Physician ◽  
Resistance To Thyroid Hormone ◽  
Tsh Suppression ◽  
Stimulating Hormone

Abstract Background Resistance 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 presentation A 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. Conclusion The 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.

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

2020 ◽  
Vol 9 (5) ◽  
pp. 263-268
Author(s):  
Yasmine Abdellaoui ◽  
Dimitra Magkou ◽  
Sofia Bakopoulou ◽  
Ramona Zaharia ◽  
Marie-Laure Raffin-Sanson ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormone Receptor ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Free Triiodothyronine ◽  
Autoimmune Thyroid Diseases ◽  
Autoimmune Thyroid ◽  
Autoimmune Hypothyroidism ◽  
First Time ◽  
Receptor Antibodies

Introduction: Resistance to thyroid hormone beta (RTHβ) is a rare disease with an autosomal dominant transmission. Diagnosis may be challenging especially in patients with hyper- or hypothyroidism. Case Presentation: A 31-year-old male patient with suppressed thyroid-stimulating hormone (TSH), elevated free thyroxine and free triiodothyronine, along with high thyroid receptor antibodies was diagnosed with Graves’ disease. Benzylthiouracil was started. One month later, reduced sensitivity to thyroid hormones was suspected because of persistently high thyroid hormone levels contrasting with high TSH level. Molecular analysis highlighted a 10c.1357C>T p.P453S mutation in the thyroid hormone receptor beta gene (THRB). RTHβ was diagnosed. Several relatives also had RTHβ (the mother, the young son, and 2 out of 3 siblings). Autoimmune hypothyroidism was present in the mother, whereas 2 out of 3 siblings had asymptomatic autoimmunity. Discussion/Conclusion: Both Graves’ disease and autoimmune hypothyroidism were described in patients with RTHβ. We show here for the first time that autoimmune hypo- and hyperthyroidism may coexist in kindred with RTHβ. Seven previously published cases of Graves’ disease and RTHβ were retrieved and analyzed. Treatments and thyroid hormone level targets are discussed as well as the possible link between RTHβ and autoimmune thyroid diseases.

scholarly journals An Update on the Pathophysiology and Diagnosis of Inappropriate Secretion of Thyroid-Stimulating Hormone

2021 ◽  
Vol 22 (12) ◽  
pp. 6611
Author(s):  
Kenji Ohba
Keyword(s):  
Thyroid Hormone ◽  
Thyroid Hormone Receptor ◽  
Elevated Serum ◽  
Thyroid Stimulating Hormone ◽  
Free Triiodothyronine ◽  
Related Condition ◽  
Important Indicator ◽  
Inappropriate Secretion ◽  
Hpt Axis ◽  
Stimulating Hormone

Inappropriate secretion of thyroid-stimulating hormone (IST), also known as central hyperthyroidism, is a clinical condition characterized by elevated free thyroxine and triiodothyronine concentrations concurrent with detectable thyroid-stimulating hormone (TSH) concentrations. Similarly, the term syndrome of IST (SITSH) is widely used in Japan to refer to a closely related condition; however, unlike that for IST, an elevated serum free triiodothyronine concentration is not a requisite criterion for SITSH diagnosis. IST or SITSH is an important indicator of resistance to thyroid hormone β (RTHβ) caused by germline mutations in genes encoding thyroid hormone receptor β (TRβ) and TSH-secreting pituitary adenoma. Recent evidence has accumulated for several conditions associated with IST, including RTH without mutations in the TRβ gene (non-TR-RTH), the phenomenon of hysteresis involving the hypothalamus-pituitary-thyroid axis (HPT-axis), methodological interference, and Cushing’s syndrome after surgical resection. However, little information is available on the systematic pathophysiological aspects of IST in previous review articles. This report presents an overview of the recent advances in our understanding of the etiological aspects of IST that are relevant for diagnosis and treatment. Moreover, the report focuses on the potential mechanism of IST caused by hysteresis in the HPT-axis (lagging TSH recovery) in terms of epigenetic regulation.

scholarly journals Graves’ disease coexisted with resistance to thyroid hormone: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Hiroshi Akahori ◽  
Rika Usuda
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Initial Treatment ◽  
Thyroid Stimulating Hormone ◽  
Graves Disease ◽  
Sequencing Analysis ◽  
Resistance To Thyroid Hormone ◽  
Hormone Levels ◽  
Inappropriate Secretion ◽  
Stimulating Hormone

Abstract Background Resistance to thyroid hormone is a rare autosomal dominant disorder characterized by reduced responsiveness to thyroid hormone and can cause syndrome of inappropriate secretion of thyroid stimulating hormone. Although Graves’ disease is a common autoimmune thyroid disorder, the coexistence of these two diseases is extremely rare and makes the diagnosis and treatment complicated, leading to the delayed diagnosis of resistance to thyroid hormone. We describe the case of a Japanese man with resistance to thyroid hormone coexisting with Graves’ disease, in which the correct diagnosis of resistance to thyroid hormone was delayed by masking of the signs of syndrome of inappropriate secretion of thyroid stimulating hormone, with final diagnosis 30 years after the initial treatment for Graves’ disease. Case presentation A 30-year-old Japanese man presented with diffuse goiter and thyrotoxicosis. Anti-thyroid stimulating hormone receptor antibody was positive. He was diagnosed with Graves’ disease. Anti-thyroid medication was chosen as the initial treatment for Graves’ disease. However, this treatment failed to normalize the free triiodothyronine, free thyroxine, and thyroid stimulating hormone levels. His thyroid hormone levels indicated syndrome of inappropriate secretion of thyroid stimulating hormone. After cessation of methimazole treatment by remission of Graves’ disease, his state of syndrome of inappropriate secretion of thyroid stimulating hormone persisted. Magnetic resonance imaging revealed no pituitary tumor lesions. The results of thyroid stimulating hormone-releasing hormone stimulation test showed a normal response of thyroid stimulating hormone. He was suspected to have resistance to thyroid hormone. Direct sequencing analysis of the thyroid hormone receptor β gene identified a heterozygous missense mutation, R282S. Coexistence of resistance to thyroid hormone with Graves’ disease was confirmed. He has no signs of thyrotoxic symptoms, and is capable in activities of daily living at the present time. Conclusion We described a rare case of resistance to thyroid hormone simultaneously existing with Graves’ disease. This case demonstrated that these diseases can coexist, and indicated some of the difficulties in diagnosis of resistance to thyroid hormone with coexisting Graves’ disease. The diagnosis of resistance to thyroid hormone did not become apparent until after anti-hyperthyroidism treatment. Although rare, careful follow-up after the initial treatment of Graves’ disease is necessary. The coexistence of these two diseases should be considered in patients showing occasional syndrome of inappropriate secretion of thyroid stimulating hormone.

scholarly journals Misleading results from immunoassays of serum free thyroxine in the presence of rheumatoid factor

1997 ◽  
Vol 43 (6) ◽  
pp. 957-962 ◽  
Author(s):  
Anthony G W Norden ◽  
Rodwin A Jackson ◽  
Lorraine E Norden ◽  
A Jane Griffin ◽  
Margaret A Barnes ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Rheumatoid Factor ◽  
Equilibrium Dialysis ◽  
Thyroid Stimulating Hormone ◽  
Normal Serum ◽  
Free Thyroxine ◽  
Free Triiodothyronine ◽  
Serum Free ◽  
Serum Free Thyroxine ◽  
Stimulating Hormone

Abstract A novel interference with measurements of serum free thyroxine (FT4) caused by rheumatoid factor (RhF) is described. We found misleading, sometimes gross, increases of FT4 results in 5 clinically euthyroid elderly female patients with high RhF concentrations. All 5 patients had high FT4 on Abbott AxSYM® or IMx® analyzers. “NETRIA” immunoassays gave misleading results in 4 of the 5 patients; Amerlex-MAB® in 2 of 4 patients; AutoDELFIA®in 2 of the 5; and Corning ACS-180® and Bayer Diagnostics Immuno 1® in 1 of the 5. BM-ES700® system results for FT4 in these women remained within the reference range. Results for serum T4, thyroid-stimulating hormone, free triiodothyronine, thyroid-hormone-binding globulin, and FT4 measured by equilibrium dialysis were normal in all 5 patients. Drugs, albumin-binding variants, and anti-thyroid-hormone antibodies were excluded as interferences. Addition to normal serum of the RhF isolated from each of the 5 patients increased the apparent FT4 (Abbott AxSYM). Screening of 83 unselected patients demonstrated a highly significant positive correlation between FT4 (Abbott AxSYM) and RhF concentrations. Discrepant, apparently increased FT4 with a normal result for thyroid-stimulating hormone should lead to measurement of the patient’s RhF concentration.

Normal Cord Blood Thyroid-Stimulating Hormone in a Child with Resistance to Thyroid Hormone

2004 ◽  
Vol 3 (2) ◽  
pp. 75-77
Author(s):  
Angel On-Kei Chan ◽  
Ching-Wan Lam ◽  
Ivan Fai-Man Lo ◽  
Stephen Tak-Sum Lam ◽  
Chi-Chung Shek ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Cord Blood ◽  
Thyroid Stimulating Hormone ◽  
Resistance To Thyroid Hormone ◽  
Stimulating Hormone

scholarly journals Molecular dynamics approach to the I431V mutational impact on thyroid hormone receptor-beta

BIBECHANA ◽  
2018 ◽  
Vol 16 ◽  
pp. 79-91
Author(s):  
Tika Ram Lamichhane ◽  
Sharma Paudel ◽  
Binod Kumar Yadav ◽  
Hari Prasad Lamichhane
Keyword(s):  
Thyroid Hormone ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Point Mutations ◽  
Binding Pocket ◽  
Accessible Surface Area ◽  
Thyroid Stimulating Hormone ◽  
Solvent Accessible Surface Area ◽  
Free Triiodothyronine ◽  
Receptor Beta

The point mutations like I431V on thyroid hormone receptor-beta (THR-β) gene cause resistance to thyroid hormones (RTH) with the clinical diagnosis of elevated free triiodothyronine (T3) and free thyroxin (T4) but not suppressed thyroid stimulating hormone (TSH) on the blood serum. Some ultrasonographic (USG) reports of the patients with RTH show thyroid gland disorder with goiter or nodule(s) or cyst(s) and some USG reports even with RTH are normal. I431V-mutant causes more steric hindrance while binding T3 into THR-β than the native wild type THRT3. The residue on the 431-codon is dynamic in nature showing its flexibility over the course of entry and release of T3-hormone into/from the ligand binding pocket. The more increased solvent accessible surface area of I431V-mutant than that of native I431-residue makes the partial unfolding of the globular THR-β protein. The smaller height of radial distribution function between I431-mutant and T3 shows the decrease in probability of finding the atomic particles nearby T3-hormone in THRT3-MT than in THRT3-WT. The electrostatic interaction energy between native I431 and T3 is negative, but it is positive between I431V and T3. Moreover, the internal energy of I431V-mutant has been found smaller than that of native I431-residue in THRT3 systems.BIBECHANA 16 (2019) 79-91

Sign in / Sign up

Export Citation Format

Share Document