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1.
J Med Case Rep ; 18(1): 164, 2024 Apr 07.
Artigo em Inglês | MEDLINE | ID: mdl-38582878

RESUMO

BACKGROUND: Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are multisystemic and include thyroid orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy. CASE PRESENTATION: An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos. Investigations were consistent with a diagnosis of Graves' disease. The physical exam showed diffuse, non-pitting swelling of the ankle and penis, mimicking a lymphatic malformation. Further, multiple nodules were found on the hands and feet. Treatment of the nodules with cautery resulted in more severe nodules. CONCLUSION: This report describes rare presentations of thyroid dermopathy mimicking lymphatic malformation. The Koebner phenomenon can explain this patient's atypical presentations. Intralesional injections of triamcinolone and total thyroidectomy showed clear improvement.


Assuntos
Exoftalmia , Doença de Graves , Mixedema , Dermatopatias , Humanos , Masculino , Criança , Doença de Graves/complicações , Doença de Graves/diagnóstico , Mixedema/diagnóstico , Mixedema/etiologia
2.
Front Endocrinol (Lausanne) ; 15: 1368088, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38590826

RESUMO

Background: There is no doubt that both Hashimoto thyroiditis and Graves' disease are autoimmune thyroid diseases (AITDs), but the relationship between anti-nuclear antibody (ANA) and AITDs is poorly studied. The association between thyroid autoantibody levels and ANA positivity was evaluated to assess the role of ANA in AITDs. Methods: We conducted an analysis using data from 1,149,893 patients registered at our hospital and 53,021 patients registered in the National Health and Nutrition Examination Survey databases. We focused on patients with data for thyroid peroxidase antibody (TPOAb)/ANA, TPOAb/immunoglobulin G (IgG), thyroid-stimulating hormone (TSH) receptor antibody (TRAb)/ANA, TRAb/IgG, TSH/ANA, or TSH/IgG. Results: ANA positivity rates were 12.88% and 21.22% in TPOAb/ANA and TSH/ANA patients, respectively. In TPOAb/IgG and TSH/IgG data, high IgG levels (≥15 g/L) were detected in 2.23% and 4.06% of patients, respectively. There were significant differences in ANA positivity rates and high IgG proportions among patients with different TPOAb and TSH levels. TPOAb level was correlated with ANA positivity rate and high IgG proportion, and TSH level was correlated with ANA positivity rate. Regression analysis showed positive correlations between TPOAb levels and ANA positivity risk or high IgG risk, TSH levels and high IgG risk, and elevated TSH and ANA positivity risk. Of patients with TRAb/ANA data, 35.99% were ANA-positive, and 13.93% had TRAb levels ≥1.75IU/L; 18.96% of patients with TRAb/IgG data had high IgG levels, and 16.51% had TRAb levels ≥1.75IU/L. ANA positivity rate and high IgG proportion were not significantly different among different TRAb levels. TRAb levels, ANA positivity risk and high IgG risk were not correlated. Conclusion: ANA positivity and high IgG are related to Hashimoto thyroiditis but not Graves' disease, which implies distinct pathophysiological mechanisms underlying the AITDs.


Assuntos
Doença de Graves , Doença de Hashimoto , Humanos , Inquéritos Nutricionais , Autoanticorpos , Doença de Graves/diagnóstico , Receptores da Tireotropina , Imunoglobulina G , Tireotropina
3.
BMC Endocr Disord ; 24(1): 41, 2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38509509

RESUMO

INTRODUCTION: The prevalence of hyperthyroidism in Pakistan is 2.9%, which is two times higher than in the United States. Most high-quality hyperthyroidism clinical practice guidelines (CPGs) used internationally originate from high-income countries in the West. Local CPGs in Pakistan are not backed by transparent methodologies. We aimed to produce comprehensive, high-quality CPGs for the management of hyperthyroidism in Pakistan. METHODS: We employed the GRADE-ADOLOPMENT approach utilizing the 2016 American Thyroid Association Guidelines for Diagnosis and Management of Hyperthyroidism and Other Causes of Thyrotoxicosis as the source CPG. Recommendations from the source guideline were either adopted as is, excluded, or adapted according to our local context. RESULTS: The source guideline included a total of 124 recommendations, out of which 71 were adopted and 49 were excluded. 4 recommendations were carried forward for adaptation via the ETD process, with modifications being made to 2 of these. The first addressed the need for liver function tests (LFTs) amongst patients experiencing symptoms of hepatotoxicity while being treated with anti-thyroid drugs (ATDs). The second pertained to thyroid status testing post-treatment by radioactive iodine (RAI) therapy for Graves' Disease (GD). Both adaptations centered around the judicious use of laboratory investigations to reduce costs of hyperthyroidism management. CONCLUSION: Our newly developed hyperthyroidism CPGs for Pakistan contain two context-specific modifications that prioritize patients' finances during the course of hyperthyroidism management and to limit the overuse of laboratory testing in a resource-constrained setting. Future research must investigate the cost-effectiveness and risk-benefit ratio of these modified recommendations.


Assuntos
Doença de Graves , Hipertireoidismo , Neoplasias da Glândula Tireoide , Humanos , Paquistão/epidemiologia , Radioisótopos do Iodo/uso terapêutico , Neoplasias da Glândula Tireoide/tratamento farmacológico , Hipertireoidismo/diagnóstico , Hipertireoidismo/epidemiologia , Hipertireoidismo/terapia , Doença de Graves/diagnóstico , Doença de Graves/epidemiologia , Doença de Graves/terapia
4.
Neurology ; 102(8): e209282, 2024 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-38513158

RESUMO

The concomitant presentation of thyroid-associated ophthalmopathy (TAO) and ocular myasthenia gravis is well documented. In the course of Graves disease (GD), symptomatic transient neuromuscular junction disorder may occur due to the effect of thyroid hormones at the neuromuscular synapse. Diagnostic clues are the clinical and electrophysiologic remission synchronous with restoration of euthyroidism. Furthermore, the occurrence of thymic hyperplasia in GD poses further diagnostic and therapeutic considerations. These points are discussed in the case report of a 43-year-old male patient suffering from TAO and transient neuromuscular junction disorder due to GD.


Assuntos
Doença de Graves , Oftalmopatia de Graves , Miastenia Gravis , Masculino , Humanos , Adulto , Oftalmopatia de Graves/complicações , Oftalmopatia de Graves/diagnóstico , Doença de Graves/complicações , Doença de Graves/diagnóstico , Doença de Graves/tratamento farmacológico , Miastenia Gravis/complicações
5.
Radiologie (Heidelb) ; 64(3): 215-218, 2024 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-38321288

RESUMO

Endocrine orbitopathy (EO), also known as Graves' orbitopathy or thyroid-associated orbitopathy, is a self-limiting, immunologically induced co-reaction of the retrobulbar tissue of the eye triggered by an autoimmune disease of the thyroid gland. It is particularly associated with Graves' disease and is its most common extrathyroidal manifestation. In addition to typical anamnestic data, characteristic local findings and laboratory changes in immunothyroidism, orbital imaging plays a central role in the diagnosis and management of this disease. This review article provides comprehensive insight into various imaging modalities used to assess morphologic changes associated with EO. A detailed presentation of imaging findings provides a better understanding of orbital physiology.


Assuntos
Doenças Autoimunes , Doença de Graves , Oftalmopatia de Graves , Humanos , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/terapia , Doença de Graves/diagnóstico , Órbita/diagnóstico por imagem
6.
Lancet ; 403(10428): 768-780, 2024 Feb 24.
Artigo em Inglês | MEDLINE | ID: mdl-38278171

RESUMO

Thyrotoxicosis causes a variety of symptoms and adverse health outcomes. Hyperthyroidism refers to increased thyroid hormone synthesis and secretion, most commonly from Graves' disease or toxic nodular goitre, whereas thyroiditis (typically autoimmune, viral, or drug induced) causes thyrotoxicosis without hyperthyroidism. The diagnosis is based on suppressed serum concentrations of thyroid-stimulating hormone (TSH), accompanied by free thyroxine and total or free tri-iodothyronine concentrations, which are raised (overt hyperthyroidism) or within range (subclinical hyperthyroidism). The underlying cause is determined by clinical assessment, detection of TSH-receptor antibodies and, if necessary, radionuclide thyroid scintigraphy. Treatment options for hyperthyroidism include antithyroid drugs, radioactive iodine, and thyroidectomy, whereas thyroiditis is managed symptomatically or with glucocorticoid therapy. In Graves' disease, first-line treatment is a 12-18-month course of antithyroid drugs, whereas for goitre, radioactive iodine or surgery are preferred for toxic nodules or goitres. Evidence also supports long-term treatment with antithyroid drugs as an option for patients with Graves' disease and toxic nodular goitre.


Assuntos
Bócio Nodular , Doença de Graves , Hipertireoidismo , Neoplasias da Glândula Tireoide , Tireoidite , Tireotoxicose , Humanos , Antitireóideos/uso terapêutico , Antitireóideos/efeitos adversos , Bócio Nodular/diagnóstico , Bócio Nodular/terapia , Bócio Nodular/induzido quimicamente , Radioisótopos do Iodo/uso terapêutico , Neoplasias da Glândula Tireoide/tratamento farmacológico , Hipertireoidismo/terapia , Hipertireoidismo/tratamento farmacológico , Doença de Graves/diagnóstico , Doença de Graves/terapia , Tireotoxicose/diagnóstico , Tireotoxicose/terapia , Tireotoxicose/induzido quimicamente , Tireoidite/induzido quimicamente , Tireoidite/tratamento farmacológico
7.
J Surg Res ; 296: 56-65, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38219507

RESUMO

INTRODUCTION: Decision-making regarding definitive therapy for Graves' disease requires effective patient-provider communication. We investigated whether patients with limited English proficiency have differences in thyroidectomy outcomes or perioperative management when compared to English proficient (EP) patients at a safety net hospital with high-volume endocrine surgery practice. METHODS: Retrospective study of patients who underwent thyroidectomy (2012-2021) for Graves' disease within a tertiary referral system. Demographics, preoperative factors, and postoperative outcomes were abstracted via chart review and compared between EP and limited English proficient (LEP) patients in univariate analyses. Odds of postoperative complications were assessed via multivariable logistic regression. Time metrics such as time from endocrinology consultation to surgery were compared via Kaplan-Meier analysis and adjusted Cox proportional regression models. RESULTS: Of 236 patients, 85 (36%) had LEP. Low and equivalent complication rates occurred across language groups (<1% permanent). LEP patients had similar odds of thyroidectomy-specific complications (odds ratio = 1.2; 95% confidence interval 0.6-2.4). Adjusted Cox proportional hazards ratios showed that LEP patients experienced significantly shorter time from endocrinology consultation to surgery compared to EP patients [hazard ratio = 0.7; 95% confidence interval 0.5-0.9]. CONCLUSIONS: Thyroidectomy-specific complication rate for patients with Graves' disease was low, and we detected no independent association between complications and English language proficiency. Non-English primary language was independently associated with reduced time from endocrinology consultation to surgery. This finding must be interpreted with nuance and is likely multifactorial. It may reflect a well-organized, efficient system for under-resourced patients, or it may derive from communication barriers that limit robust shared decision-making, thus accelerating time to surgery.


Assuntos
Doença de Graves , Proficiência Limitada em Inglês , Humanos , Estudos Retrospectivos , Provedores de Redes de Segurança , Doença de Graves/diagnóstico , Doença de Graves/cirurgia , Idioma , Tireoidectomia/efeitos adversos
8.
Am J Case Rep ; 25: e941311, 2024 Jan 07.
Artigo em Inglês | MEDLINE | ID: mdl-38184779

RESUMO

BACKGROUND Since the COVID-19 pandemic, several cases of COVID-19 have been linked to the development of autoimmune disorders, including of the thyroid. Graves' disease (GD) is a rare complication that can occur following SARS-CoV-2 infection. Reports have linked COVID-19 to new onset and exacerbation of GD. We present a case of a 42-year-old woman with a history of GD presenting with impending thyroid storm 3 weeks following a diagnosis of COVID-19. CASE REPORT A 42-year-old woman with a history of GD presented to the Emergency Department (ED) for an acute exacerbation of hyperthyroidism 3 weeks after SARS-CoV-2 infection was diagnosed on a home test. Symptoms included daily headaches, increased bilateral eye pressure, fatigue, muscle weakness, episodes of confusion and agitation, persistent heart palpitations, and goiter. Elevated free T4 of 5.57, free T3 of 15.68, total T3 of 4.43, and near-absent thyroid stimulating hormone were noted. The Burch-Wartofsky scale was 40, which was concerning for an impending thyroid storm; however, at the time of admission, she was not in a thyroid storm. Treatment included propylthiouracil, potassium iodide oral solution, and propranolol, with symptom improvement. Due to prior history of intolerance to antithyroid medications and recent exacerbation, a thyroidectomy was performed once she was in a euthyroid state. CONCLUSIONS Our case demonstrates the importance of recognizing COVID-19 as an etiology or a trigger for new onset or exacerbation of GD. Our case highlights that being vigilant to recognize the association between COVID-19 and thyroid abnormalities for early diagnosis and treatment is imperative.


Assuntos
COVID-19 , Doença de Graves , Crise Tireóidea , Feminino , Humanos , Adulto , Crise Tireóidea/diagnóstico , Crise Tireóidea/etiologia , Pandemias , COVID-19/complicações , SARS-CoV-2 , Doença de Graves/complicações , Doença de Graves/diagnóstico
9.
BMC Endocr Disord ; 24(1): 15, 2024 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-38281931

RESUMO

BACKGROUND: Graves' disease increases bone resorption in hyperthyroidism, leading to elevated serum calcium levels and a negative bone balance. Thymic hyperplasia is observed in some Graves' disease patients. What's more, there have been a few reports of increased serum calcium and severe osteoporosis induced by Graves' disease with thymic hyperplasia. It remains unclear whether Graves' disease with thymic hyperplasia is associated with higher serum calcium levels. Our study aimed to investigate the possibility of elevated serum calcium levels and aggravated bone mobilization in Graves' disease patients with thymic hyperplasia. METHODS: Newly diagnosed and untreated patients with Graves' disease (n = 96) were enrolled. They were divided into two groups based on the incidental detection of thymic hyperplasia during imaging. Albumin, alkaline phosphatase, calcium, free triiodothyronine, free thyroxine, thyroid-stimulating hormone, and thyrotrophin receptor antibody (TRAb) were measured, and a computerized tomography of the chest was obtained. RESULTS: Patients with Graves' disease who had thymic hyperplasia were notably younger (P=0.018) and exhibited higher serum calcium levels (P=0.001) compared to those with Graves' disease without thymic hyperplasia. In the multiple regression analysis, thymic hyperplasia, TRAb, and female gender were significant variables associated with elevated serum calcium levels in patients with Graves' disease, collectively accounting for 31.7% of the variation in serum calcium. CONCLUSIONS: Graves' disease patients with thymic hyperplasia showed higher serum calcium levels. thymic hyperplasia, TRAb, and female gender were found to be correlated with increased serum calcium levels in Graves' disease, suggesting a potential association between thymic hyperplasia and bone mobilization in Graves' disease.


Assuntos
Doença de Graves , Hiperplasia do Timo , Humanos , Feminino , Cálcio , Hiperplasia do Timo/complicações , Tiroxina , Receptores da Tireotropina , Doença de Graves/diagnóstico , Imunoglobulinas Estimuladoras da Glândula Tireoide , Autoanticorpos
10.
Medicina (Kaunas) ; 60(1)2024 Jan 17.
Artigo em Inglês | MEDLINE | ID: mdl-38256430

RESUMO

Background and Objectives: Graves' disease (GD) and primary aldosteronism (PA) are two pathologies that can cause significant morbidity and mortality. GD is mediated by autoantibodies, and recent studies have shown autoantibody involvement in the pathophysiology behind both PA and pre-eclampsia. The coexistence of GD and PA, however, is reportedly rare. This report describes a unique case of Graves' hyperthyroidism and concomitant PA in a patient with a history of pre-eclampsia with severe features. Case Presentation: The patient presented at 17 weeks pregnancy with mild hyperthyroidism, negative TSH receptor antibodies, and a low level of thyroid-stimulating immunoglobulins (TSI). Her TSH became detectable with normal thyroid hormone levels, and therefore, no anti-thyroid medication was administered. At 34 weeks she developed pre-eclampsia with severe features, and a healthy child was delivered; her TSH returned to normal. Seven months after delivery, she presented emergently with severe hyperthyroidism, hypertensive crisis, and a serum potassium of 2.5 mmol/L. Her hypertension was uncontrolled on multiple anti-hypertensives. Both TSI and TSH receptor antibodies were negative. The aldosterone(ng/dL)/renin(ng/mL/h ratio was (13/0.06) = 216.7, and abdominal CT imaging demonstrated normal adrenal glands; thus, a diagnosis of PA was made. Her blood pressure was subsequently controlled with only spironolactone at 50 mg 2xday. Methimazole was started but discontinued because of an allergic reaction. Consequently, a thyroidectomy was performed, and pathology revealed Graves' disease. The patient remained well on levothyroxine at 125 mcg/day and spironolactone at 50 mg 2xday three months after the thyroidectomy. Conclusions: This patient manifested severe GD with antibodies undetectable by conventional TSI and TSH receptor assays and accelerated hypertension from PA simultaneously. These conditions were successfully treated separately by spironolactone and thyroidectomy. Autoimmune PA was considered likely given the clinical picture. The diagnosis of PA should be considered in hypertension with GD.


Assuntos
Doença de Graves , Hiperaldosteronismo , Hipertensão , Hipertireoidismo , Pré-Eclâmpsia , Humanos , Criança , Feminino , Gravidez , Pré-Eclâmpsia/etiologia , Espironolactona , Receptores da Tireotropina , Hipertireoidismo/complicações , Doença de Graves/complicações , Doença de Graves/diagnóstico , Autoanticorpos , Hiperaldosteronismo/complicações , Hiperaldosteronismo/diagnóstico , Tireotropina
11.
Mini Rev Med Chem ; 24(3): 265-271, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37069724

RESUMO

Coronavirus disease 2019 (COVID-19) affects thyroid function. These changes are due to the direct impact of the virus on thyroid cells via angiotensin-converting-enzyme 2 (ACE2) receptors, inflammatory reaction, apoptosis in thyroid follicular cells, suppression of hypothalamus-pituitarythyroid axis, an increase in activity of adrenocortical axis, and excess cortisol release due to cytokine storm of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Euthyroid sick syndrome (ESS), thyroiditis, clinical and subclinical hypothyroidism, central hypothyroidism, exacerbation of underlying autoimmune thyroid disease, and clinical and subclinical hyperthyroidism can be associated with coronavirus. Adjuvants in coronavirus vaccines induce autoimmune/inflammatory syndrome known as vaccine adjuvants (ASIA) syndrome. Thyroiditis and Graves' disease have been reported to be associated with ASIA syndrome after some coronavirus vaccinations. Some coronavirus medications, such as hydroxychloroquine, monoclonal antibodies, lopinavir/ritonavir, remdesivir, naproxen, anticoagulants, and glucocorticoids can also affect thyroid tests, and correct diagnosis of thyroid disorders will be more difficult. Changes in thyroid tests may be one of the most important manifestations of COVID-19. These changes can be confusing for clinicians and can lead to inappropriate diagnoses and decisions. Prospective studies should be conducted in the future to increase epidemiological and clinical data and optimize the management of thyroid dysfunctions in patients with COVID-19.


Assuntos
COVID-19 , Doença de Graves , Hipotireoidismo , Tireoidite , Humanos , COVID-19/complicações , Estudos Prospectivos , SARS-CoV-2 , Doença de Graves/diagnóstico , Doença de Graves/tratamento farmacológico , Tireoidite/diagnóstico
13.
Rev Endocr Metab Disord ; 25(1): 1-3, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38041785

RESUMO

The prevalence of thyroid disease continues to rise. As a consequence, the research in the thyroid field has significantly increased over time. Thus, clinicians, and endocrinologists first, have to be aware of the important continuous progress achieved, in particular of thyroid cancer, to better manage their patients. This themed issue, titled "New Insights in Thyroid Diagnosis and Treatment," delves deep into contemporary hot topics in thyroid field. These papers included in the present issue are focused on several aspects in this area, such as imaging, molecular analysis, machine learning and radiomics, nuclear medicine, clinical, and laboratory. Seven papers centers around thyroid cancer. Three papers review imaging modalities for thyroid nodule/cancer assessment. Two papers report a comprehensive review of metabolic issues involving thyroid gland. Finally, a large overview about genetics of Graves' disease is reported in another study. Clinicians will find this issue very interesting.


Assuntos
Doença de Graves , Neoplasias da Glândula Tireoide , Nódulo da Glândula Tireoide , Humanos , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Doença de Graves/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico por imagem , Cintilografia
14.
Thyroid ; 34(1): 123-133, 2024 01.
Artigo em Inglês | MEDLINE | ID: mdl-38009210

RESUMO

Background: Graves' disease has been associated with adverse pregnancy, labor and delivery, and neonatal outcomes. Thyroid function levels, assessed during newborn screening (NBS), can serve as indicators of the adaptation in the hypothalamic-pituitary-thyroid axis. We utilized data from the national thyroid NBS program to investigate the characteristics of the mother-infant dyad of term infants born to mothers with past or active Graves' disease. Methods: The dataset of the Israeli NBS for thyroid function was linked with the electronic records of a tertiary medical center to generate a unified database of mothers and their term infants born between 2011 and 2021. The MDClone big data platform extracted maternal, pregnancy, disease course, labor and delivery, and neonatal characteristics of the mother-infant dyads. Results: Out of 103,899 registered mother-infant dyads, 292 (0.3%) mothers had past or active Graves' disease. A forward multivariate linear regression demonstrated that Graves' disease did not significantly affect NBS total thyroxine (tT4) levels (p = 0.252). NBS tT4 levels in infants born to mothers with active Graves' disease were higher than those observed in the general Israeli population (p < 0.001). Mothers with Graves' disease more frequently used assisted reproductive technology (12.7% vs. 9.0%, respectively, p = 0.012; odds ratio [OR] = 1.46 [CI 1.03-2.07], p = 0.031), and had more gestational hypertension (3.9% vs. 1.1%, p < 0.001; OR = 3.53 [CI 1.92-6.47], p < 0.001), proteinuria (2.5% vs. 0.9%, p < 0.001; OR = 3.03 [CI 1.43-6.45], p = 0.004), cesarean sections (26.4% vs. 19.7%, p = 0.029; OR = 1.46 [CI 1.13-1.90], p = 0.004), prelabor rupture of membranes (15.4% vs. 4.1%, p < 0.001; OR = 4.3 [CI 3.13-5.91], p < 0.001), and placental abnormalities (5.1% vs. 2.0%, p < 0.001; OR = 2.64 [CI 1.57-4.44]; p < 0.001). Their infants had lower adjusted birthweight z-scores (-0.18 ± 0.94 vs. -0.03 ± 0.90, p = 0.007) and were more likely to be small for gestational age (12.0% vs. 8.1%, p = 0.005; OR = 1.54 [CI 1.08-2.19], p = 0.018). Conclusions: Neonatal thyroid function levels were affected by maternal Graves' disease only when the disease was active during gestation. Moreover, maternal Graves' disease was also associated with an increased risk of adverse outcomes for the mother-infant dyad.


Assuntos
Doença de Graves , Complicações na Gravidez , Recém-Nascido , Lactente , Humanos , Feminino , Gravidez , Mães , Estudos de Coortes , Complicações na Gravidez/diagnóstico , Placenta , Doença de Graves/diagnóstico
15.
Mil Med ; 189(1-2): e439-e442, 2024 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-37531455

RESUMO

Clinicians may confuse an impaired sensitivity to thyroid hormone with hyperthyroidism and offer an inappropriate treatment. We report a diagnosis of resistance to thyroid hormone (RTH) caused by a rare mutation in the thyroid hormone receptor beta gene in a patient previously presumed to have Graves' disease. We have found only one published case of a novel point mutation, c.749T>C (p.Ile250Thr variant) associated with 50% reduction in thyroid hormone receptor binding affinity for triiodothyronine in the I250T mutant; it was found in this patient. A 66-year-old male veteran, with a history of non-ischemic cardiomyopathy and arrhythmias, was referred by a cardiologist with concerns for a possible thyrotropin (TSH) adenoma on account of elevated TSH and free thyroxine (FT4) levels. Pituitary imaging was negative. He was previously treated with radioiodine for presumptive Graves' disease in the civilian sector. Examination revealed a goiter with no nodules. Repeat TSH and FT4 levels were elevated and also free triiodothyronine (FT3) and reverse triiodothyronine. These findings and other test results were consistent with RTH, which was confirmed by genetic testing. Mutation analysis showed the patient to be heterozygous for the p.Ile250Thr variant. He later developed hypothyroidism. Resistance to thyroid hormone can be misdiagnosed as hyperthyroidism with consequent inappropriate treatment. Treatment is not needed in most RTH-beta patients. Thyroid ablation should generally be avoided. Clinicians must be cautious whenever they encounter concurrent elevation of TSH, FT4, and FT3. This RTH-beta patient has a rare I250T mutant of the thyroid hormone receptor beta gene, the second reported case in the literature.


Assuntos
Doença de Graves , Hipertireoidismo , Síndrome da Resistência aos Hormônios Tireóideos , Masculino , Humanos , Idoso , Tri-Iodotironina , Receptores beta dos Hormônios Tireóideos/genética , Radioisótopos do Iodo , Hormônios Tireóideos , Doença de Graves/diagnóstico , Doença de Graves/genética , Doença de Graves/complicações , Tireotropina , Mutação , Hipertireoidismo/genética , Hipertireoidismo/complicações , Síndrome da Resistência aos Hormônios Tireóideos/diagnóstico , Síndrome da Resistência aos Hormônios Tireóideos/genética , Síndrome da Resistência aos Hormônios Tireóideos/complicações
16.
J Neurol ; 271(1): 486-496, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37773417

RESUMO

CONTEXT: Treatment with Alemtuzumab (ALZ) in patients with Relapsing-Remitting Multiple Sclerosis (RRMS) is associated with the development of ALZ-induced Graves' disease (GD-ALZ). Some cases may develop associated Graves´ Orbitopathy (GO-ALZ), with possible visual compromise. AIM: The aim of this study was to describe the main clinical and biochemical characteristics of GD-ALZ, as well as the clinical course of a case series of GO-ALZ METHODS: This study is a retrospective observational study, carried out in a reference hospital for the care of patients with RRMS in Spain. Cases treated with ALZ in the period 2014-2022 were included. GO-ALZ cases were identified among those with clinical symptoms compatible with thyroid eye disease after initiating ALZ treatment. RESULTS: A total of 135 cases, with a mean follow-up of 69.6 months after the first ALZ cycle, were included. The incidence of GD-ALZ was 32.6% (44/135), with a predominance of women (77.3%) and mean age of 41.9 years. The presence of first-degree relatives with hypothyroidism was identified as risk factor for the development of GD-ALZ (adjusted P-value: 0.02). GO-ALZ was diagnosed in 6 cases (incidence: 13.6%), of which 3 had severe clinical forms of GO, requiring anti-IL-6 treatment. A favorable response was reported in all of them, with a significant decrease in disease activity and improvement in proptosis. CONCLUSIONS: We report one of the largest cohorts of GD-ALZ and GO-ALZ cases. The diagnosis of these entities should be taken into account in patients treated with Alemtuzumab, given the risk of developing severe clinical forms. In moderate-severe forms of GO-ALZ, drugs with anti-IL-6 activity are a safe and effective option.


Assuntos
Doença de Graves , Oftalmopatia de Graves , Esclerose Múltipla Recidivante-Remitente , Esclerose Múltipla , Humanos , Feminino , Adulto , Masculino , Alemtuzumab/efeitos adversos , Oftalmopatia de Graves/tratamento farmacológico , Oftalmopatia de Graves/induzido quimicamente , Oftalmopatia de Graves/epidemiologia , Esclerose Múltipla Recidivante-Remitente/complicações , Esclerose Múltipla/complicações , Doença de Graves/complicações , Doença de Graves/diagnóstico , Doença de Graves/epidemiologia
17.
Klin Monbl Augenheilkd ; 241(1): 48-68, 2024 Jan.
Artigo em Inglês, Alemão | MEDLINE | ID: mdl-37799096

RESUMO

Graves' orbitopathy is an autoimmune disease of the orbit that most frequently occurs with Graves' hyperthyroidism. The occurrence of autoantibodies directed against the TSH receptor (TRAb) is of central importance for the diagnosis and pathogenesis. These autoantibodies are mostly stimulating, and induce uncontrolled hyperthyroidism and tissue remodelling in the orbit and more or less pronounced inflammation. Consequently, patients suffer to a variable extent from periocular swelling, exophthalmos, and fibrosis of the eye muscles and thus restrictive motility impairment with double vision. In recent decades, therapeutic approaches have mainly comprised immunosuppressive treatments and antithyroid drug therapy for hyperthyroidism to inhibit thyroid hormone production. With the recognition that TRAb also activates an important growth factor receptor, IGF1R (insulin-like growth factor 1 receptor), biological agents have been developed. Teprotumumab (an inhibitory IGF1R antibody) has already been approved in the USA and the therapeutic effects are enormous, especially with regard to the reduction of exophthalmos. Side effects are to be considered, especially hyperglycaemia and hearing loss. It is not yet clear whether the autoimmune reaction (development of the TRAb/attraction of immunocompetent cells) is also influenced by anti-IGF1R inhibiting agents. Recurrences after therapy show that the inhibition of antibody development must be included in the therapeutic concept, especially in severe cases.


Assuntos
Exoftalmia , Doença de Graves , Oftalmopatia de Graves , Hipertireoidismo , Humanos , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/tratamento farmacológico , Doença de Graves/diagnóstico , Doença de Graves/tratamento farmacológico , Hipertireoidismo/complicações , Autoanticorpos/uso terapêutico , Exoftalmia/etiologia
18.
J Pediatr Endocrinol Metab ; 37(2): 174-178, 2024 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-38147013

RESUMO

OBJECTIVES: Graves' disease (GD) is a rare auto-immune disorder in pediatric population. The association between GD and thymic hyperplasia was rarely reported in children. Diagnosis and management of GD are challenging in children. CASE PRESENTATION: This report presents the case of a 5-year-old girl with a personal history of asthma and congenital bilateral isolated clinical anophthalmia who presented with acute congestive heart failure, sinus tachycardia and atypical signs of orbitopathy with edema and erythema of the lower right eyelid and excessive tearing. The diagnosis of GD was based on detecting a suppression of serum TSH level and the presence of high titers of TRAbs. Relapse occurred after 10 months of antithyroid drugs with chief complaints of palpitations, dyspnea and dysphagia. Computed tomography showed heterogeneous anterior mediastinal mass with no invasion into the surrounding tissue. The marked shrinkage of the mass after radioiodine therapy supported the diagnosis of thymic hyperplasia associated with GD. CONCLUSIONS: The presence of clinical anophthalmia may be a confusing factor for the diagnosis of Graves' ophthalmopathy. Recognition of the association between GD and thymic hyperplasia would avoid invasive diagnostic procedures and unnecessary surgical resection. Radioiodine therapy may be used in young children with repeated relapses of GD.


Assuntos
Anoftalmia , Doença de Graves , Oftalmopatia de Graves , Hiperplasia do Timo , Feminino , Humanos , Criança , Pré-Escolar , Hiperplasia do Timo/complicações , Hiperplasia do Timo/diagnóstico , Radioisótopos do Iodo/uso terapêutico , Anoftalmia/complicações , Doença de Graves/complicações , Doença de Graves/diagnóstico , Oftalmopatia de Graves/complicações , Oftalmopatia de Graves/diagnóstico , Oftalmopatia de Graves/tratamento farmacológico
19.
Monoclon Antib Immunodiagn Immunother ; 42(6): 194-202, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38156888

RESUMO

Graves' disease is the most common cause of thyrotoxicosis and is characterized by ophthalmopathy with proptosis, chemosis, or conjunctival injection; pretibial myxedema; and thyroid acropachy. It is an autoimmune disease that can be genetic or influenced by coexisting environmental factors such as exposure to anticancer drugs, including immune checkpoint inhibitors. The incidence rate of breast cancer is increasing due to rising awareness of risk factors and screening for breast cancer, and the mortality rate is decreasing due to recent advances in cancer treatment. However, there are side effects that are attributed to these treatment modalities, manifesting in various forms in breast cancer survivors, which are reflected in the patient in this case study.


Assuntos
Neoplasias da Mama , Doença de Graves , Mixedema , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/complicações , Trastuzumab/efeitos adversos , Anticorpos Monoclonais , Doença de Graves/diagnóstico , Doença de Graves/tratamento farmacológico , Doença de Graves/complicações , Mixedema/complicações , Mixedema/terapia
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