scholarly journals Syndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review

2016 ◽  
Vol 2016 ◽  
pp. 1-6 ◽  
Author(s):  
Anastasios Anyfantakis ◽  
Dimitrios Anyfantakis ◽  
Irene Vourliotaki
Keyword(s):  
Thyroid Hormone ◽  
Multinodular Goiter ◽  
Target Genes ◽  
Case Reports ◽  
Serum Levels ◽  
Free T4 ◽  
Laboratory Findings ◽  
Toxic Multinodular Goiter ◽  
High Doses ◽  
Primary Hyperthyroidism

Resistance to thyroid hormone (RTH) is an extremely rare dominantly inherited condition of impaired tissue responsiveness to thyroid hormone (TH). Most patients with RTH have mutations in the gene that encodes theβisoform of the receptor of thyroid hormone (THR-βgene). Mutant receptors are unable to activate or repress target genes. The majority of them are asymptomatic or rarely have hypo- or hyperthyroidism. RTH is suspected by the finding of persistent elevation of serum levels of free T3 (FT3) and free T4 (FT4) and nonsuppressed TSH. We present two cases of RTH diagnosed after total thyroidectomy. The first patient was initially diagnosed with primary hyperthyroidism due to toxic multinodular goiter. The second patient had undergone thyroidectomy for multinodular goiter 16 years before diagnosis of RTH. After thyroidectomy, although on relatively high doses of levothyroxine, both of them presented with the laboratory findings of RTH. Genetic analysis revealed RTH.

scholarly journals Thyroid hormone resistance detected by routine neonatal screening

2010 ◽  
Vol 54 (8) ◽  
pp. 723-727 ◽  
Author(s):  
Léa Maria Zanini Maciel ◽  
Patrícia Künzle Ribeiro Magalhães
Keyword(s):  
Thyroid Hormone ◽  
Neonatal Screening ◽  
Thyroid Hormone Receptor ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Confirmatory Test ◽  
Free T4 ◽  
Laboratory Findings ◽  
Normal Delivery ◽  
Brazilian Patient

We report the clinical and laboratory findings, and molecular analysis of a Brazilian patient with resistance to thyroid hormone syndrome (RTH) detected by neonatal screening. The index case was born at term by normal delivery with 2,920 g and 45 cm. TSH of the neonatal screening test performed on the 5th day of life was of 13.1 µU/mL (cut-off = 10 µU/mL). In a confirmatory test, serum TSH level was 4.3 µU/mL, total T4 was 19 µg/dL (confirmed in another sample, Total T4 = > 24.0 µg/dL), free T4 was 3.7 ηg/dL, and free T3 was 6.7 pg/mL. Direct sequencing of the beta thyroid hormone receptor gene revealed mutation c.1357C>A (P453T), confirming the diagnosis of RHT. Family study demonstrated the presence of RTH in his 1-year-and-3-month-old sister, in his 35-year-old father, and in his 68-year-old paternal grandfather. All of them had goiter and only his father had received an erroneous diagnosis of hyperthyroidism. The present case shows that clinical evaluation and a judicious interpretation of total T4/free T4 concentrations in a newborn recalled due to slightly altered neonatal TSH can contribute to the diagnosis of RTH.

scholarly journals Subclinical Hypothyroidism In Childhood, Treatment Or Only Follow-Up?

2020 ◽  
Author(s):  
Marta Murillo-Vallés ◽  
Santiago Martinez ◽  
Cristina Aguilar-Riera ◽  
Miguel Angel Garcia-Martin ◽  
Joan Comós Bel ◽  
...  
Keyword(s):  
Subclinical Hypothyroidism ◽  
Therapy Group ◽  
Roc Curves ◽  
Serum Levels ◽  
Thyroid Stimulating Hormone ◽  
Free T4 ◽  
Laboratory Findings ◽  
Increased Risk ◽  
Group 3 ◽  
Group 1

Abstract Background: Subclinical hypothyroidism is defined as serum levels of thyroid-stimulating hormone (TSH) above the upper limit with normal concentrations of free T4 (fT4). Its management remains challenging. The aim of the study was to evaluate clinical and laboratory findings as well as clinical course of children with SH followed in a third level hospital. 65 patients aged between 2 and 18 years were retrospectively studied. Methods: The patients were followed for a median period of 9 months (range 6 months to 24 months). Those who normalized TSH levels were discharged (Group 1). If TSH persisted mild elevated (5-10µUI/mL) with normal fT4 and negative TPOAb/TgAb were classified as Group 2 and followed semiannually without treatment. In those patients who’s TSH raised ≥10µUI/mL or maintained TSH 5-10µUI/mL and positive TPOAb/TgAb were considered suitable for thyroxin therapy (Group 3, G3). Results: By ROC curves analysis we tested which initial TSH concentration best discriminated between patients who reverted to normality (Group 1) from those who finally required treatment (Group 3), the best cut-off being a TSH concentration >8.1µUI/mL (93.18% E, 57.14% S, AUC 0.765±0.107, p= 0.01). In 89% of our patients, TSH concentrations spontaneously reverted to normality or remained stable without treatment, whereas less than 11% progressed to clinical hypothyroidism. Conclusion: patients with initial TSH concentrations above 8.1µUI/mL have an increased risk of progression to hypothyroidism.

COVID-19 and stroke: from the cases to the causes

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Giovanni Frisullo ◽  
Irene Scala ◽  
Simone Bellavia ◽  
Aldobrando Broccolini ◽  
Valerio Brunetti ◽  
...  
Keyword(s):  
Case Reports ◽  
Demographic Data ◽  
Serum Levels ◽  
High Serum ◽  
Blue Band ◽  
Laboratory Findings ◽  
Poor Outcome ◽  
Markers Of Inflammation ◽  
Very High ◽  
D Dimer

Abstract During COVID-19 pandemic, a wide variety of stroke typologies have been described in patients affected by SARS-CoV-2. Investigating the case reports of acute stroke in COVID-19 patients, published since the beginning of the pandemic, we tried to trace the pathogenic mechanisms of stroke during SARS-CoV-2 infection. We conducted a systematic review analyzing demographic data, cerebrovascular risk factors, NIHSS score, vascular territory involvement and laboratory findings of 168 patients described in 89 studies, from a pool of 1243 records. Based on our results, we have identified different stroke profiles: (1) cerebral large vessel disease (CLVD) profile with a low disability, simultaneous onset of COVID-19 and stroke symptoms, good outcome and low serum levels of D-dimer and CRP; (2) intracranial bleeding (IB) profile with high disability, poor outcome and low levels of serum markers of inflammation and coagulopathy; (3) CLVD profile with a short time-lapse between COVID-19 symptoms and stroke onset, high neurological disability and very high systemic inflammatory markers; (4) multiple thrombo-embolic disease (MTED) profile with older patients, many comorbidities, disabling stroke, poor outcome, evident alteration of coagulation tests and high serum levels of both D-dimer and CRP. We therefore summarized these different profiles in a spectrum similar to that of visible light, where the violet–blue band included IB and CSVD with low inflammation and prothrombotic activity, the green–yellow band included CLVD with high inflammation and moderate prothrombotic activity and the orange–red band for MTED with moderate-high levels of inflammation and very high prothrombotic activity.

scholarly journals SAT-LB305 Concurrent Peri-Adrenal Paraganglioma and Renal AngiomyolipomaComplicated by Toxic Multinodular Goiter

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Nattapol Sathavarodom
Keyword(s):  
Multinodular Goiter ◽  
Tracer Uptake ◽  
Renal Angiomyolipoma ◽  
Free T4 ◽  
The Past ◽  
Progressive Dyspnea ◽  
Toxic Multinodular Goiter ◽  
High Level ◽  
Upper Abdomen ◽  
Lost To Follow Up

Abstract A 40 years old woman presented with headache, palpitation and diaphoresis by the past 3 months, and then developed progressive dyspnea on exertion and chest pain 2 weeks ago. She also lost 5 kg of her body weight during the past 6 months. She ever had multinodular goiter and lobectomy was done 12 years ago, after that she lost to follow up. At meantime, toxic multinodular goiter was suspected and high level of free T4, T3, and suppressed thyrotropin were demonstrated. Furthermore, thyroid scan revealed heterogenous tracer uptake at her thyroid bed. Methimazole was started, however her blood pressure and heart rate were all uncontrolled. Pheochromocytoma was suspected and markedly elevated of both urinary normetanephrine and metanephrine were confirmed. Computed tomogram revealed a huge, right supra-renal mass. In addition, hypodensity mass were found at upper pole of right kidney, and the results of 131I-Metaiodobenzylguanidine scintigraphy showed increased tracer uptake at upper abdomen. Right adrenalectomy and partial nephrectomy were performed. The final pathological diagnosis was sympathetic paraganglioma, and angiomyolipoma which confirmed by immunohistochemical staining. We present here an unusual case of concurrent periadrenal paraganglioma and renal angiomyolipoma which was complicated by autonomous toxic multinodular goiter.

scholarly journals Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities

2011 ◽  
Vol 55 (1) ◽  
pp. 60-66 ◽  
Author(s):  
Hamilton Cabral de Menezes Filho ◽  
Suemi Marui ◽  
Thais Della Manna ◽  
Ester Saraiva Brust ◽  
Vanessa Radonsky ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Novel Mutation ◽  
Normal Growth ◽  
Signs And Symptoms ◽  
Serum Levels ◽  
High Serum ◽  
Laboratory Evaluation ◽  
Coding Region ◽  
Free T4 ◽  
Exon 1

MCT8 is a cellular transporter of thyroid hormones important in their action and metabolization. We report a male patient with the novel inactivating mutation 630insG in the coding region in exon 1 of MCT8. He was characterized clinically by severe neurologic impairment (initially with global hypotonia, later evolving with generalized hypertonia), normal growth during infancy, reduced weight gain, and absence of typical signs and symptoms of hypothyroidism, while the laboratory evaluation disclosed elevated T3, low total and free T4, and mildly elevated TSH serum levels. Treatment with levothyroxine improved thyroid hormone profile but was not able to alter the clinical picture of the patient. These data reinforce the concept that the role of MCT8 is tissue-dependent: while neurons are highly dependent on MCT8, bone tissue, adipose tissue, muscle, and liver are less dependent on MCT8 and, therefore, may suffer the consequences of the exposition to high serum T3 levels.

scholarly journals Takotsubo Cardiomyopathy Associated with Primary Hyperthyroidism Secondary to Toxic Multinodular Goiter

2015 ◽  
Vol 25 (05) ◽  
pp. e121-e122 ◽  
Author(s):  
William O'Callaghan ◽  
Elham Reda ◽  
Selvanayagam Niranjan ◽  
Dale Murdoch
Keyword(s):  
Takotsubo Cardiomyopathy ◽  
Multinodular Goiter ◽  
Toxic Multinodular Goiter ◽  
Primary Hyperthyroidism

Increased Serum Concentration of Free L-Triiodothyronine in Patients Treated with L-Thyroxine

1983 ◽  
Vol 22 (05) ◽  
pp. 251-254
Author(s):  
R. Schmitz ◽  
H. Bongers ◽  
A. Löw ◽  
J. Mahlstedt ◽  
K. Joseph ◽  
...  
Keyword(s):  
Oral Dose ◽  
Serum Concentration ◽  
Normal Level ◽  
Binding Sites ◽  
Carrier Proteins ◽  
Normal Range ◽  
Free T4 ◽  
Normal Concentration ◽  
Free T3 ◽  
High Doses

This study demonstrates that in spite of measured normal concentrations of carrier proteins one cannot deduce in all cases a normal fT3 from a normal level of TT3 when 1-thyroxine given for diagnostic or therapeutic purposes is present in excess. The displacement of 1-triiodothyronine from its binding sites is shown in 35 patients with non-toxic goitre who received an oral dose of 200 μg 1-thyroxine/die for two weeks. Apart from a significant increase of TT4 (from 7.85 to 14.21 μg/dl ≙ + 81 %) and of fT4 (from 1.58 to 3.7 ng/dl ≙ + 134%) there is only a slight increase in TT3 from 148 to 158 ng/dl (≙ + 10%) after 14 days of treatment. By contrast fT3 rises clearly from 4.97 to 8.07 pg/ml ≙ + 63% (normal range: 2.8-5.6 pg/ml). Compared with the increase of TT3 (+ 10%) the free T3 rises by a factor of 6.3 (63 %/10%). On account of higher affinity of 1-thyroxine to binding proteins the free T4 is influenced to a lesser degree. Compared with the increase of TT4 (+ 81 %) free T4 rises by a factor of 1.6 (134%/81 %). It is supposed that the serum concentration of free T3 can be increased despite a normal concentration of TT3 when 1-thyroxine is present in excess. Therefore, for laboratory work fT3 should be assigned a higher validity than TT3 when patients are treated with comparatively high doses of 1-thyroxine.

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