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2.
Med.lab ; 26(4): 383-389, 2022. Tabs, ilus
Article in Spanish | LILACS | ID: biblio-1412540

ABSTRACT

La enfermedad por coronavirus SARS-CoV-2 que surgió en el año 2019 (COVID-19), ha obligado al rápido desarrollo de vacunas para prevenir su propagación e intentar controlar la pandemia. Dentro de las vacunas desarrolladas, las primeras en ser aprobadas con una tecnología nueva en el campo de la vacunación, fueron las vacunas basadas en ARNm (ácido ribonucleico mensajero), que lograron tasas de efectividad cercanas al 95 % para la prevención de la enfermedad COVID-19 grave. Los eventos adversos comunes son reacciones locales leves, pero ha habido varios informes de pacientes que desarrollaron tiroiditis subaguda y disfunción tiroidea después de recibir la vacuna contra SARS-CoV-2. Este artículo presenta dos casos de tiroiditis subaguda poco después de recibir la vacuna contra COVID-19


The SARS-CoV-2 coronavirus disease which emerged in 2019 (COVID-19), has forced the rapid development of vaccines to prevent the spread of infection and attempt to control the pandemic. Among the vaccines developed, one of the first to be approved with a new technology in the field of vaccination, was the mRNA (messenger ribonucleic acid) vaccine, with rates of effectiveness close to 95% for the prevention of severe COVID-19 disease. Common adverse events are mild local reactions, but there have been some reports of patients developing sub-acute thyroiditis and thyroid dysfunction after receiving the SARS-CoV-2 vaccine. This article presents two case reports of subacute thyroiditis shortly after receiving the COVID-19 vaccine


Subject(s)
Humans , Male , Female , Adult , Aged , Thyroiditis, Subacute/chemically induced , Thyrotoxicosis/chemically induced , BNT162 Vaccine/adverse effects , ChAdOx1 nCoV-19/adverse effects , Thyroiditis, Subacute/diagnosis , Thyroiditis, Subacute/drug therapy , Thyrotoxicosis/diagnosis , Thyrotoxicosis/drug therapy , Anti-Inflammatory Agents, Non-Steroidal/therapeutic use , Goiter/chemically induced
3.
Rev. Soc. Bras. Clín. Méd ; 18(2): 95-99, abril/jun 2020.
Article in Portuguese | LILACS | ID: biblio-1361449

ABSTRACT

A paralisia periódica hipocalêmica tireotóxica é uma complicação inusitada do hipertireoidismo, porém é considerada urgência endocrinológica e ainda frequentemente subdiagnosticada. Sua apresentação clínica consiste na tríade de défice de potássio, tireotoxicose e fraqueza muscular ­ sendo esse último sintoma comum em diversas patologias. Realizamos uma revisão bibliográfica e destacamos, por meio do relato de caso, a importância do diagnóstico precoce dessa doença, possibilitando uma evolução favorável ao paciente, independente de sua etnia, sexo ou região geográfica. Atentamos ainda ao tratamento da doença, que, apesar de sua simplicidade, acarreta muitos equívocos.


The thyrotoxic hypokalemic periodic paralysis is a rare complication of hyperthyroidism, but is considered an endocrinological urgency, and yet frequently underdiagnosed. Its clinical presentation consists of potassium deficit, thyrotoxicosis, and muscular weakness, with the latter symptom being very common in several pathologies. We performed a bibliographic review and highlight, through a case report, the importance of the early diagnosis of this disease to allow favorable progression to the patient, regardless of ethnicity, sex, or geographical region. We also reinforce the importance of the disease treatment which, despite its simplicity, leads to many mistakes.


Subject(s)
Humans , Male , Adult , Young Adult , Thyrotoxicosis/diagnosis , Hypokalemic Periodic Paralysis/diagnosis , Potassium Chloride/therapeutic use , Tachycardia/diagnosis , Tachycardia/drug therapy , Antithyroid Agents/therapeutic use , Thyroxine/therapeutic use , Thyrotoxicosis/drug therapy , Thyrotoxicosis/blood , Hypokalemic Periodic Paralysis/drug therapy , Hypothyroidism/chemically induced , Hypothyroidism/drug therapy , Iodine/adverse effects , Iodine/therapeutic use , Anti-Arrhythmia Agents/therapeutic use
4.
Actual. SIDA. infectol ; 28(104): 123-126, 2020 dic.
Article in Spanish | LILACS, BINACIS | ID: biblio-1349139

ABSTRACT

La epidemia por COVID-19, causada por el nuevo coronavirus-2 del síndrome respiratorio agudo severo (SARS-CoV-2) ha enfrentado al equipo de salud a un abanico de presentaciones clínicas y alteraciones de las funciones órganicas a las que diagnosticar y tratar. Dentro de estas se encuentra la disfunción tiroidea.En este reporte se presenta el caso de una paciente con taquicardia persistente luego de pasado el cuadro de COVID-19, que derivó en múltiples consultas hasta que se arribó al diagnóstico de tirotoxicosis de etiología autoinmune.La tirotoxicosis asociada a COVID-19 es infrecuente, pero agrega morbilidad a la convalecencia de los pacientes, por lo que su sospecha clínica y diagnóstico rápido serían beneficiosos


The infection by the new severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) has challenged the health care system with a new spectrum of clinical manifestations and organ disfuntions, that require proper diagnosis and treatment.In this case we report a patient with persistent tachycardia after COVID-19 acute illness. This finding led to multiple medical visits until final diagnosis of thyrotoxicosis of autoimmune etiology.Thyrotoxicosis is an unusual complication of COVID-19, that results in higher morbility in patients during the convalescent phase of the disease. Opportune clinical suspicion and early diagnosis seems to be beneficial in terms of clinical outcome


Subject(s)
Humans , Female , Adult , Thyroid Diseases/diagnosis , Thyroid Diseases/drug therapy , Thyrotoxicosis/diagnosis , Morbidity , Early Diagnosis , COVID-19 , Hyperthyroidism/immunology
5.
Rev. chil. endocrinol. diabetes ; 13(4): 166-169, 2020. tab
Article in Spanish | LILACS | ID: biblio-1123623

ABSTRACT

Introducción: En Chile en las últimas décadas ha aumentado la población de personas mayores de 65 años. La tirotoxicosis en este grupo está asociada a complicaciones como fibrilación auricular (FA), insuficiencia cardiaca (ICC), osteoporosis y aumento de la mortalidad. En algunos casos puede presentarse con síntomas no específicos, cuadro conocido como hipertiroidismo apático. Objetivos: Evaluar las características clínicas de la tirotoxicosis en personas mayores. Método: Serie de casos retrospectiva. Se analizaron fichas clínicas de pacientes mayores de 65 años con el diagnóstico de tirotoxicosis controlados en nuestro centro entre enero de 2012 y mayo de 2018. Resultados: En el periodo estudiado 54 pacientes fueron diagnosticados de tirotoxicosis. Se excluyen 4 por datos incompletos. El 80% corresponden a mujeres. La mediana de edad fue 71 años (rango 65-94), sin diferencias por género (p=0,61). La etiología más frecuente fue enfermedad de Graves (EG) en 64%, seguido por bocio multinodular hiperfuncionante en 20%, adenoma tóxico en 10% y asociada a fármacos en 6%. De los pacientes con EG, 28% presentó orbitopatía distiroidea (OD) clínicamente evidente. Un 30% se diagnosticó en contexto de baja de peso, deterioro cognitivo o patología cardiovascular, sin presentar síntomas clásicos de hipertiroidismo. Un 16% presentó FA, 14% ICC y 6% fractura osteoporótica. El 28% fue diagnosticado durante una hospitalización o requirió ser hospitalizado durante los meses siguientes. Los mayores de 75 años presentan una mayor probabilidad de hipertiroidismo apático (OR 5,1, IC95% 1,15-22,7 p=0,01). Además, las complicaciones aumentan en mayores de 75 años, encontrándose en este grupo todos los casos de FA. Conclusiones: La etiología más común de tirotoxicosis fue la EG, a diferencia de lo reportado en otras poblaciones. Un número importante de pacientes debutó sin síntomas clásicos de hipertiroidismo, principalmente mayores de 75 años, por lo que se debe tener una alta sospecha en este grupo etario.


Introduction: Hyperthyroidism in the elderly can produce severe complications such as atrial fibrillation (AF), heart failure (CHF) and osteoporosis. In the elderly, thyrotoxicosis may have only nonspecific symptoms, known as apathetic hyperthyroidism. Objective: To evaluate the clinical characteristics of thyrotoxicosis in the elderly. Methods: Retrospective case series. We reviewed clinical records of patients with thyrotoxicosis older than 65 years, between January 2012 and March 2019. Results: During this period, 54 patients were diagnosed with thyrotoxicosis. Four patients were excluded due to incomplete data. 80% were women. The average age was 73 years (range 65-94), without age difference between gender (p=0,61). The most frequent etiology was Graves' disease in 64%. Hyperfunctioning multinodular goiter was confirmed in 20%, toxic adenoma in 10% and drug-associated in 6%. Twenty eight percent of Graves' disease patients had dysthyroid orbitopathy. Thirty percent presented as apathetic hyperthyroidism. Sixteen percent of the patients presented AF, 14% CHF, and 6% osteoporotic fracture. Twenty-eight percent were diagnosed during hospitalization or required hospitalization in the following months. Those older than 75 years had a greater probability of presenting apathetic hyperthyroidism (OR 5.1, 95% CI 1.15- 22.7 p=0.01). Complications increase in this age group, with all cases of AF. Conclusions: The most common etiology of thyrotoxicosis in this group was GD. This differs from other populations. A significant number of patients presented without classic symptoms of hyperthyroidism, especially in people older than 75 years. Special attention should be paid to atypical symptoms of hyperthyroidism in this group.


Subject(s)
Humans , Male , Female , Aged , Aged, 80 and over , Thyrotoxicosis/epidemiology , Thyrotoxicosis/complications , Thyrotoxicosis/diagnosis , Thyrotoxicosis/etiology , Adenoma , Graves Disease , Retrospective Studies , Age Factors , Age Distribution , Hospitals, University/statistics & numerical data , Hyperthyroidism/epidemiology
6.
Rev. Soc. Bras. Clín. Méd ; 17(4): 198-200, dez 2019.
Article in Portuguese | LILACS | ID: biblio-1284252

ABSTRACT

Relata-se o caso de paciente do sexo masculino, atendido em um hospital universitário, após quadro duvidoso e arrastado de alteração cardíaca e hipertireoidiana, com a propedêutica sequencial própria para crise tireotóxica. Destaca-se a necessidade de identificação precoce da apresentação clínica, com atendimento de emergência, e a capacidade da realização de diagnósticos diferenciais com alterações cardíacas primárias, evitando-se sequelas e desfechos inesperados.


We report the case of a male patient seen in a University Hospital after a dubious and protracted picture of cardiac and hyperthyroid alteration, with adequate sequential propaedeutic for thyrotoxic crisis. The need for early identification of clinical presentation with emergency care, and the ability to perform differential diagnoses with primary cardiac changes are highlighted, to avoid unexpected sequelae and outcomes.


Subject(s)
Humans , Male , Adult , Thyrotoxicosis/diagnosis , Hyperthyroidism/diagnosis , Atrial Fibrillation/diagnostic imaging , Thyrotoxicosis/drug therapy , Echocardiography , Ultrasonography , Paracentesis , Diagnosis, Differential , Albumins/analysis , Electrocardiography , Heart Failure, Diastolic/diagnostic imaging , Transaminases/blood , Hospitalization , Hyperthyroidism/drug therapy , Liver Cirrhosis/drug therapy , Liver Cirrhosis/diagnostic imaging
8.
Rev. méd. hondur ; 83(1/2): 49-51, ene.-jun. 2015. ilus
Article in Spanish | LILACS | ID: biblio-1117

ABSTRACT

Tirotoxicosis es el término utilizado para referirse al exceso de hormonas tiroideas. El hipertiroidismo neonatal causado por la Enfermedad de Graves es una patología con incidencia muy baja; apenas el 5% de las tirotoxicosis ocurre en la niñez y el hipertiroidismo neonatal se presenta en menos del 1% de los casos de tirotoxicosis en este grupo etario. Durante la gestación, los TSI (inmunoglobulinas estimulantes de la tiroides) producidos por la madre pasan a través de la placenta hacia el feto, donde igualmente actúan en los receptores de TSH de la tiroides del feto causando sobre-producción de hormonas tiroideas. Encontrar valores elevados de T3, T4 y TSI, además de tener valores bajos de TSH plasmáticas, indicarán el diagnóstico hipertiroidismo neonatal en el recién nacido. Describimos un paciente con antecedente materno de hipertiroidismo (Enfermedad de Graves) no controlado, con incumplimiento del tratamiento. El neonato presentó las siguientes manifestaciones clínicas: exoftalmos, bocio, bajo peso e irritabilidad. Las pruebas de función tiroidea demostraron niveles de T3 y T4 elevados y TSH disminuida. El antecedente de Enfermedad de Graves materna está presente en la mayoría de los casos y sugiere la transferencia de TSI hacia el feto. Las manifestaciones clínicas postnatales presentes concuerdan con las descritas en la literatura; estas junto con los antecedentes orientan al diagnóstico. La confirmación del diagnóstico se logra a través de la evaluación de pruebas de función tiroidea. Se requiere un diagnóstico temprano y tratamiento oportuno para evitar complicaciones, incluso la muerte del paciente...(AU)


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Graves Disease/complications , Hyperthyroidism/embryology , Immunoglobulins, Thyroid-Stimulating , Pregnancy , Thyrotoxicosis/diagnosis
10.
Journal of Korean Medical Science ; : 1317-1319, 2014.
Article in English | WPRIM | ID: wpr-79635

ABSTRACT

A 73-yr-old Korean man with permanent atrial fibrillation visited outpatient clinic with severely increased International Normalized Ratio (INR) values after taking a usual starting dosage of warfarin to prevent thromboembolism. We found out later from his blood tests that he had hyperthyroidism at the time of treatment initiation. His genetic analysis showed CYP2C9*1/*3 and VKORC1+1173TT genotypes. We suspect that both hyperthyroidism and genetic variant would have contributed to his extremely increased INR at the beginning of warfarin therapy. From this case, we learned that pharmacogenetic and thyroid function test might be useful when deciding the starting dosage of warfarin in patients with atrial fibrillation.


Subject(s)
Aged , Humans , Male , Anticoagulants/blood , Aspirin/therapeutic use , Atrial Fibrillation/diagnosis , Chromatography, High Pressure Liquid , Cytochrome P-450 CYP2C9/genetics , Genotype , Polymorphism, Single Nucleotide , Tandem Mass Spectrometry , Thromboembolism/prevention & control , Thyrotoxicosis/diagnosis , Vitamin K Epoxide Reductases/genetics , Warfarin/blood
11.
Arq. bras. endocrinol. metab ; 57(3): 205-232, abr. 2013. tab
Article in Portuguese | LILACS | ID: lil-674212

ABSTRACT

INTRODUÇÃO: O hipertireoidismo é caracterizado pelo aumento da síntese e liberação dos hormônios tireoidianos pela glândula tireoide. A tireotoxicose refere-se à síndrome clínica decorrente do excesso de hormônios tireoidianos circulantes, secundário ao hipertireoidismo ou não. Este artigo descreve diretrizes baseadas em evidências clínicas para o manejo da tireotoxicose. OBJETIVO: O presente consenso, elaborado por especialistas brasileiros e patrocinado pelo Departamento de Tireoide da Sociedade Brasileira de Endocrinologia e Metabologia, visa abordar o manejo, diagnóstico e tratamento dos pacientes com tireotoxicose, de acordo com as evidências mais recentes da literatura e adequadas para a realidade clínica do país. MATERIAIS E MÉTODOS: Após estruturação das questões clínicas, foi realizada busca das evidências disponíveis na literatura, inicialmente na base de dados do MedLine-PubMed e posteriormente nas bases Embase e SciELO - Lilacs. A força das evidências, avaliada pelo sistema de classificação de Oxford, foi estabelecida a partir do desenho de estudo utilizado, considerando-se a melhor evidência disponível para cada questão. RESULTADOS: Foram definidas 13 questões sobre a abordagem clínica inicial visando ao diagnóstico e ao tratamento que resultaram em 53 recomendações, incluindo investigação etiológica, tratamento com drogas antitireoidianas, iodo radioativo e cirurgia. Foram abordados ainda o hipertireoidismo em crianças, adolescentes ou pacientes grávidas e o manejo do hipertireoidismo em pacientes com oftalmopatia de Graves e com outras causas diversas de tireotoxicose. CONCLUSÕES: O diagnóstico clínico do hipertireoidismo, geralmente, não oferece dificuldade e a confirmação diagnóstica deverá ser feita com as dosagens das concentrações séricas de TSH e hormônios tireoidianos. O tratamento pode ser realizado com drogas antitireoidianas, administração de radioiodoterapia ou cirurgia de acordo com a etiologia da tireotoxicose, as características clínicas, disponibilidade local de métodos e preferências do médico-assistente e paciente.


INTRODUCTION: Hyperthyroidism is characterized by increased synthesis and release of thyroid hormones by the thyroid gland. Thyrotoxicosis refers to the clinical syndrome resulting from excessive circulating thyroid hormones, secondary to hyperthyroidism or due to other causes. This article describes evidence-based guidelines for the clinical management of thyrotoxicosis. OBJECTIVE: This consensus, developed by Brazilian experts and sponsored by the Department of Thyroid Brazilian Society of Endocrinology and Metabolism, aims to address the management, diagnosis and treatment of patients with thyrotoxicosis, according to the most recent evidence from the literature and appropriate for the clinical reality of Brazil. MATERIALS AND METHODS: After structuring clinical questions, search for evidence was made available in the literature, initially in the database MedLine, PubMed and Embase databases and subsequently in SciELO - Lilacs. The strength of evidence was evaluated by Oxford classification system was established from the study design used, considering the best available evidence for each question. RESULTS: We have defined 13 questions about the initial clinical approach for the diagnosis and treatment that resulted in 53 recommendations, including the etiology, treatment with antithyroid drugs, radioactive iodine and surgery. We also addressed hyperthyroidism in children, teenagers or pregnant patients, and management of hyperthyroidism in patients with Graves' ophthalmopathy and various other causes of thyrotoxicosis. CONCLUSIONS: The clinical diagnosis of hyperthyroidism usually offers no difficulty and should be made with measurements of serum TSH and thyroid hormones. The treatment can be performed with antithyroid drugs, surgery or administration of radioactive iodine according to the etiology of thyrotoxicosis, local availability of methods and preferences of the attending physician and patient.


Subject(s)
Adolescent , Adult , Child , Humans , Goiter/therapy , Hyperthyroidism , Thyroid Nodule/therapy , Thyroidectomy/standards , Graves Disease/diagnosis , Graves Disease/therapy , Hyperthyroidism/diagnosis , Hyperthyroidism/therapy , Thyroiditis/therapy , Thyrotoxicosis/diagnosis , Thyrotoxicosis/therapy
12.
Journal of Korean Medical Science ; : 822-826, 2012.
Article in English | WPRIM | ID: wpr-210920

ABSTRACT

Thyrotoxic periodic paralysis (TPP) is a rare manifestation of hyperthyroidism characterized by muscle weakness and hypokalemia. All ethnicities can be affected, but TPP typically presents in men of Asian descent. The most common cause of TPP in thyrotoxicosis is Graves' disease. However, TPP can occur with any form of thyrotoxicosis. Up to our knowledge, very few cases ever reported the relationship between TPP and painless thyroiditis. We herein report a 25-yr-old Korean man who suffered from flaccid paralysis of the lower extremities and numbness of hands. The patient was subsequently diagnosed as having TPP associated with transient thyrotoxicosis due to painless thyroiditis. The paralytic attack did not recur after improving the thyroid function. Therefore, it is necessary that early diagnosis of TPP due to transient thyrotoxicosis is made to administer definite treatment and prevent recurrent paralysis.


Subject(s)
Adult , Humans , Male , Administration, Oral , Anti-Arrhythmia Agents/therapeutic use , Hypokalemic Periodic Paralysis/diagnosis , Organotechnetium Compounds/chemistry , Potassium Chloride/therapeutic use , Propranolol/therapeutic use , Radiopharmaceuticals , Thyroiditis/complications , Thyrotoxicosis/diagnosis
13.
Rev. méd. Minas Gerais ; 21(2)abr.-jun. 2011.
Article in Portuguese | LILACS | ID: lil-598715

ABSTRACT

Pacientes com tireotoxicose podem cursar com alterações psiquiátricas como depressão, mania ou psicose aguda. O objetivo deste trabalho é relatar o caso de paciente com sintomatologia psiquiátrica como manifestação de hipertireoidismo. O diagnóstico correto foi feito após anamnese e exame físico e investigação laboratorial que incluiu a função tireoidiana. Foi realizada breve revisão bibliográfica sobre a ocorrência de alterações psiquiátricas associadas à tireotoxicose. O diagnóstico de doença tireoidiana deve ser considerado sempre diante de alterações classificadas como psiquiátricas agudas.


Patients with thyrotoxicosis may suffer from psychiatric disorders, such as depression, mania or acute psychosis. This paper aims at reporting on the case of a patient with psychiatric symptomatology as manifestation of hyperthyroidism. The correct diagnosis built on physical examination and anamnesis, as well as laboratory examination including thyroid function tests. A brief review of the literature is also reported to gain a better understanding of the occurrence of psychiatric disorders associated to thyrotoxicosis. As this paper shows, diagnosis of thyroid diseases should also account for acute psychiatric disorders.


Subject(s)
Humans , Female , Adult , Thyrotoxicosis/complications , Thyrotoxicosis/diagnosis , Psychotic Disorders , Hyperthyroidism
14.
Oman Medical Journal. 2011; 26 (2): 129-130
in English | IMEMR | ID: emr-129607

ABSTRACT

Persistent hiccup is a rare but potentially severe condition that can be symptomatic of a variety of diseases or idiopathic. Most episodes last only a few minutes and are self-limited, but hiccup can get persistent and become a real problem for physician and patient alike. The center of hiccup may be activated by a great variety of stimuli traveling along different nerve pathways and bring different effecter responses. We report a case of persistent hiccup as a presentation of impending thyroid storm of Graves' disease. Though the condition is rare, clinicians should remain alert to the possibility of this diagnosis


Subject(s)
Humans , Male , Graves Disease/diagnosis , Thyrotoxicosis/diagnosis , Thyroid Crisis
15.
Rev. méd. Chile ; 138(11): 1427-1430, nov. 2010. ilus
Article in Spanish | LILACS | ID: lil-572962

ABSTRACT

Thyrotoxic hypokalemic periodic paralysis is characterized by attacks of generalized weakness associated to hypokalemia in patients with hyperthyroidism. We report a 25-year-old man with a history of spontaneously relapsing episodes of muscular weakness, who consulted for a rapidly evolving upper and lower limb paresis. Hypokalemia associated to a primary hyperthyroidism was detected. Treatment with antithyroid Drugs and potassium supplementation reverted symptoms and the episodes of acute muscular weakness did not reappear.


Subject(s)
Adult , Humans , Male , Hyperthyroidism/complications , Hypokalemic Periodic Paralysis/diagnosis , Thyrotoxicosis/diagnosis , Algorithms , Diagnosis, Differential
16.
Indian J Pediatr ; 2009 Aug; 76(8): 850-851
Article in English | IMSEAR | ID: sea-142355

ABSTRACT

We report a case of autoimmune thyrotoxocosis in an 11-year-old boy with achalasia cardia. This case explores autoimmunity as an etiological factor for achalasia based on several autoimmune conditions that have been associated with it.


Subject(s)
Autoimmune Diseases/complications , Autoimmune Diseases/diagnosis , Autoimmune Diseases/therapy , Child , Diagnosis, Differential , Esophageal Achalasia/complications , Esophageal Achalasia/diagnosis , Esophageal Achalasia/surgery , Humans , Male , Thyrotoxicosis/complications , Thyrotoxicosis/diagnosis , Thyrotoxicosis/therapy
17.
Rev. argent. endocrinol. metab ; 46(2): 17-24, abr.-jun. 2009. ilus, tab
Article in Spanish | LILACS | ID: lil-641953

ABSTRACT

Introducción: La resistencia a hormonas tiroideas (RHT) es un desorden genético de transmisión dominante poco frecuente, caracterizado por una respuesta reducida de los tejidos blanco a las hormonas tiroideas. RHT está ligada al gen del receptor beta de hormona tiroidea (TRβ). El síndrome se identifica por niveles persistentemente elevados de T4 y T3 totales y libres en presencia de TSH no suprimida. Materiales y Métodos: Paciente femenina de 62 años de edad con antecedente de hemitiroidectomía a los 22 años por bocio. Clínicamente, la mujer se encontraba eutiroidea y hemodinámicamente estable. En los exámenes complementarios se constató la presencia de nódulo tiroideo, con estudio citológico benigno y en el laboratorio hormonas tiroideas totales y libres elevadas con TSH no suprimida. La impresión diagnóstica fue RHT, siendo el principal diagnóstico diferencial el tirotropinoma. Se realizó perfil tiroideo completo en el caso índice y en dos familiares de primer grado. Se dosaron gonadotropinas y prolactina, y se realizó RMN de hipófisis en el caso índice. Se estudiaron mutaciones del gen TRβ en ADN genómico en la paciente y en uno de sus familiares. Resultados: Avalando la impresión diagnóstica, tanto el caso índice como los dos familiares mostraron un perfil tiroideo compatible con RHT. El estudio genético identificó una nueva mutación en el exón 10: c.1339C>A que resulta en una sustitución p.P447T. La misma fue observada tanto en el caso índice como en el familiar estudiado. Conclusión: La historia de esta paciente con RHT, al igual que otros casos descriptos en la bibliografía, remarcan la importancia de un diagnóstico adecuado y temprano de esta patología poco frecuente para evitar conductas terapéuticas iatrogénicas y con consecuencias relevantes en la vida de estos pacientes. Paralelamente, se describe una nueva mutación genética en esta familia.


Introduction: Resistance to thyroid hormones (RTH) is an unusual autosomal dominant inherited disorder characterized by a reduced target organ responsiveness to thyroid hormones. RTH is linked to the gene encoding the thyroid receptor β (TR β). This syndrome is characterized by persistent high levels of total and free T4 and T3 while TSH is not inhibited. Materials and Methods: 62 years old female who underwent a partial thyroidectomy because of goiter forty years ago. Clinically, she seemed to be an euthyroid patient and her hemodynamic status was normal. The exams revealed the existence of a benign thyroid nodule, high levels of total and free thyroid hormones and normal values of TSH. Our diagnostic impression was RTH, though differential diagnosis with thyrotropin secreting pituitary adenoma was mandatory. Complete assays of thyroid hormones were performed in the patient and in two first degree relatives. Basal LH, FSH and prolactin were assayed in the patient; and a magnetic resonance imaging of her pituitary gland was obtained. Finally we performed genetic testing in patient's DNA and a relative's DNA to demonstrate gene defect. Results: According to our diagnostic impression, not only the patient's laboratory was compatible with RTH, but so was the laboratory of the two relatives. DNA mutation analisys demonstrated a new mutation in exon 10: c.1339C>A responsible for the substitution p.P447T. This mutation was found in DNA of the patient and DNA of her relative. Conclusion: This patient with RTH, as well as other reported cases, reminds us about the importance of a certain and early diagnosis of this rare disorder in order to avoid iatrogenic treatments. A new mutation is described in this family.


Subject(s)
Humans , Female , Middle Aged , Thyroid Hormone Resistance Syndrome/diagnosis , Thyroid Hormone Resistance Syndrome/physiopathology , Hyperthyroxinemia/diagnosis , Thyrotoxicosis/diagnosis , DNA Mutational Analysis/methods , Thyroid Hormone Resistance Syndrome/drug therapy , Diagnosis, Differential , Goiter/congenital
18.
Journal of Korean Medical Science ; : 158-161, 2009.
Article in English | WPRIM | ID: wpr-8095

ABSTRACT

Graves' disease (GD) is generally presented by thyrotoxicosis with hyperthyroidism, and it is an organ-specific autoimmune disease induced by thyroid-stimulating hormone receptor autoantibodies. However, among diverse etiologies, viral infections have been suggested to trigger or to be involved in the pathogenesis of GD. Hantaan virus infection causing hemorrhagic fever with renal syndrome (HFRS) is common in South Korea and its pathogenesis is suggested to be an immunologic mechanism. We have experienced a patient who was diagnosed as HFRS with thyrotoxicosis. So we herein report the case as GD combined with the hantaan virus infection.


Subject(s)
Humans , Male , Young Adult , Graves Disease/complications , Hantaan virus , Hemorrhagic Fever with Renal Syndrome/complications , Radiopharmaceuticals , Thyrotoxicosis/diagnosis
20.
Sudan Journal of Medical Sciences. 2007; 2 (1): 63-66
in English | IMEMR | ID: emr-85328

ABSTRACT

to report two cases of resistance to thyroid hormone to increase the awareness of this syndrome, which is frequently misdiagnosed and incorrectly treated. we described two siblings, both of whom were diagnosed as having thyrotoxicosis and one of them was treated with carbamazole and subsequently developed hypothyroidism. Both patients showed features of resistance to thyroid hormone and required additional L-thyroxine to normalize the thyroid stimulating hormone level while remaining clinically euthyroid. Laboratory evaluation revealed increased serum thyroxine and tri-iodothyroxine levels as well as increased thyroid stimulating hormone [TSH] levels. The free alpha subunit/TSH ratio was normal, and CT of the pituitary gl and showed no tumour. Metabolic studies using graded doses of tri-iodothyroxine supported the diagnosis. The two patients have resistance to thyroid hormone but were erroneously diagnosed as thyrotoxic and one of them inappropriately treated. Patients with elevated plasma levels of thyroid hormones with high or normal TSH level need careful evaluation of the hypothalamic-pituitary function and peripheral action of thyroid hormones


Subject(s)
Humans , Male , Female , Hypothyroidism/chemically induced , Thyrotropin , Goiter , Drug Resistance , Thyrotoxicosis/diagnosis
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