Introdução
O que você precisa saber de cara
Hormônio da paratireoide (PTH), também conhecido como paratormônio ou paratirina, é um hormônio peptídico secretado pelas glândulas paratireoides. Ele desempenha um papel fundamental na regulação dos níveis séricos de cálcio e fosfato através de suas ações nos ossos, rins e intestino delgado. O PTH aumenta os níveis séricos de cálcio e é contrariado pela calcitonina. Ele também promove a síntese de calcitriol, a forma ativa da vitamina D.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine
Nucleus
Thyroid hormone resistance, generalized, autosomal dominant
An autosomal dominant disease characterized by high levels of circulating thyroid hormones (T3-T4), goiter, abnormal mental functions, increased susceptibility to infections, abnormal growth and bone maturation, tachycardia and deafness. Affected individuals may also have attention deficit-hyperactivity disorders (ADHD) and language difficulties. Patients have normal or slightly elevated thyroid stimulating hormone (TSH).
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
129 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Resistência a levotiroxina por mutação no receptor beta do hormônio tireoidiano
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
[Resistance to thyroid hormone syndrome with developmental disorders in two children].
Patient 1, a 4-year-old boy, presented with delayed language development. Persistently elevated free triiodothyronine (FT3) and free thyroxine (FT4) were found, with normal or elevated thyroid-stimulating hormone (TSH). A de novo heterozygous mutation in the THRB gene (c.1373T>C, p.Val458Ala) was identified, and resistance to thyroid hormone syndrome (RTH) was diagnosed. No specific medication was administered, and regular follow-up was arranged. Patient 2, a 2-year-old boy, had elevated TSH detected on neonatal screening. Thyroid dysfunction persisted for 1 year and 10 months and was accompanied by growth delay and tachycardia. Genetic testing revealed a de novo heterozygous mutation in the THRB gene (c.959G>A, p.Arg320His), and pituitary-type RTH was diagnosed. Propranolol was administered for heart rate control. RTH shows marked clinical heterogeneity and is prone to misdiagnosis or missed diagnosis. For children with unexplained thyroid dysfunction and developmental disorders, early THRB gene testing helps achieve precise diagnosis and guide treatment decisions. 患儿1，男，4岁，因语言发育迟缓就诊，甲状腺功能显示游离三碘甲状腺原氨酸、游离甲状腺素持续升高，促甲状腺激素正常或升高，基因检测发现THRB基因c.1373T>C（p.Val458Ala）新生杂合突变，诊断为甲状腺激素抵抗综合征（resistance to thyroid hormone syndrome, RTH），未予特殊药物治疗，定期随访观察。患儿2，男，2岁，新生儿筛查发现促甲状腺激素升高，甲状腺功能异常持续1年10个月，伴生长迟缓及心动过速，基因检测提示THRB基因c.959G>A（p.Arg320His）新生杂合突变，诊断为垂体型RTH，予普萘洛尔控制心率。RTH临床表现异质性大，易误诊漏诊。对于不明原因甲状腺功能异常伴发育障碍的患儿，需警惕本病可能，早期THRB基因检测有助于精准诊断与治疗决策。.
Thyrotroph Pituitary Neuroendocrine Tumors: Molecular Pathology, Diagnostic Challenges, and Receptor-Targeted Therapeutic Strategies.
Thyrotroph pituitary neuroendocrine tumors (PitNETs) are rare functional pituitary tumors characterized by autonomous secretion of thyroid-stimulating hormone (TSH), leading to central hyperthyroidism. Under the 2022 World Health Organization classification, these tumors are defined as PIT1-lineage PitNETs, reflecting lineage-specific differentiation and improving pathological accuracy. Clinically, thyrotroph PitNETs often present as macroadenomas with invasive growth, making complete surgical resection challenging and necessitating multimodal treatment strategies. From a molecular oncology perspective, thyrotroph PitNETs lack recurrent driver mutations and instead exhibit heterogeneous alterations involving dysregulated cell-cycle control, impaired thyroid hormone-mediated negative feedback, and aberrant growth factor signaling. Immunohistochemically, tumor cells express PIT1 and TSH and show strong membranous expression of somatostatin receptor subtype 2, providing a biological rationale for somatostatin receptor ligand -based therapy. Somatostatin receptor ligands play a central role in the management of thyrotroph PitNETs as preoperative, adjuvant, or primary treatment and achieve effective hormonal control and tumor stabilization or shrinkage in many patients. Accurate differentiation between thyrotroph PitNETs and resistance to thyroid hormone β is essential, as these entities share biochemical features but require fundamentally different management. Advances in lineage-based tumor classification, receptor profiling, and molecular pathology have refined diagnostic strategies and enabled a more personalized, tumor-oriented therapeutic approach. This review highlights current insights into the tumor biology and treatment of thyrotroph PitNETs and discusses future perspectives for receptor-targeted and molecularly informed therapies.
Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.
Resistance to thyroid hormone syndrome (RTHS) is a rare disorder caused by mutations in the thyroid hormone receptor beta (THRB) gene, resulting in impaired action of thyroid hormones on target tissues and organs. We report a case of a 57-year-old Chinese male who presented with palpitations and hand tremors. Laboratory tests revealed elevated serum thyroid hormone levels, while serum thyroid-stimulating hormone (TSH) levels remained within the normal range. Enhanced magnetic resonance imaging of the pituitary gland showed no abnormalities. Through genetic testing, we identified a rare heterozygous point mutation in the THRB gene, specifically c.938T>C: p.M313T. To the best of our knowledge, this mutation site has not been previously reported in the literature. Clinically, RTHS is often misdiagnosed as hyperthyroidism, leading to inappropriate treatment and potential exacerbation of thyroid hormone resistance. Therefore, accurate diagnosis of this condition is crucial. Given the rarity of RTHS, we hope that this case report will enhance the understanding of its clinical manifestations and management, particularly in patients with THRB gene mutations.
Coexistence of Resistance to Thyroid Hormone and a Thyroid Stimulating Hormone-Secreting Pituitary Adenoma.
Central hyperthyroidism, characterized by elevated thyroid hormone levels with a nonsuppressed thyroid-stimulating hormone (TSH), presents a diagnostic challenge in distinguishing thyroid hormone resistance (RTH) from a TSH-secreting pituitary adenoma (TSHoma). We report a 56-year-old man with a history of atrial fibrillation, obesity, and obstructive sleep apnea who was referred to our center with a prior diagnosis of RTH made elsewhere. Laboratory testing revealed elevated free T4 (2.2 ng/dL) and total T3 (234 ng/dL) with an inappropriately normal TSH (3.1 μIU/mL). Thyrotropin receptor antibody was negative, and radioactive iodine uptake was diffusely elevated. Pituitary magnetic resonance imaging demonstrated a 6 × 9 × 9 mm pituitary microadenoma, initially raising suspicion for TSHoma. However, a preserved TSH response to thyrotropin-releasing hormone stimulation, partial TSH suppression with high-dose T3, normal TSH α-subunit and sex hormone-binding globulin levels, and a pathogenic thyroid hormone receptor beta gene mutation all supported the diagnosis of RTH. Despite these findings, the patient underwent transsphenoidal pituitary surgery, and histopathology confirmed a plurihormonal PIT-1 lineage adenoma positive for TSH, growth hormone, and prolactin. Postoperatively, the patient recovered well and was discharged home. With postoperative normalization of TSH and free T4, it is conceivable that the pituitary tumor contributed to the TSH elevation, suggesting the possibility of dual pathology-concomitant TSHoma and RTH. This case highlights the diagnostic dilemmas and overlapping features of RTH and TSHoma, emphasizing the need for comprehensive hormonal testing and genetic confirmation to avoid unnecessary surgery.
Multigenerational thyroid hormone resistance due to THRβ mutation.
Resistance to thyroid hormone (RTH) is a rare genetic disorder caused by mutations in the thyroid hormone receptors α or β (THRα, THRβ) genes, leading to impaired tissue responsiveness to thyroid hormones. While its systemic effects are well-documented, the cardiac manifestations of RTH, including hypertrophic and dilated cardiomyopathy (DCM), arrhythmias, and heart failure, are often underrecognized, particularly in cases of treatment refractory heart failure. This case report aims to highlight the importance of cardiological awareness in diagnosing and managing RTH-related cardiomyopathy. We report the case of a 50-year-old Caucasian female with a confirmed variant c.1357C > A, p.P453T mutation in the THRβ gene, presenting with recurrent goitre, hypothyroidism, and progressive cardiovascular complications. Her clinical course was marked by episodes of angina-like symptoms, atrial fibrillation, left heart failure, and severe pulmonary oedema, eventually progressing to DCM with an ejection fraction below 30%. Despite optimal guideline-directed medical therapy, her cardiac condition deteriorated, necessitating orthotopic heart transplantation. Genetic testing confirmed the same mutation in her mother, brother, and two sons, highlighting the autosomal dominant inheritance of the disease. Thyroidectomy and lifelong levothyroxine therapy, combined with post-transplant immunosuppression, further complicated her management, underscoring the systemic interplay of RTH with cardiac function. This case emphasizes the rarity and clinical significance of RTH as a potential aetiology in refractory cardiac failure. Cardiologists should maintain a high index of suspicion for thyroid dysfunction in unexplained or treatment-resistant cardiomyopathy, particularly when associated with familial thyroid disorders or arrhythmias. Early diagnosis and a multidisciplinary approach involving endocrinology and cardiology are essential for improving outcomes and tailored therapeutic strategies for patients with RTH-related cardiomyopathy.
Publicações recentes
Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.
[Resistance to thyroid hormone syndrome with developmental disorders in two children].
Effects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.
Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation.
Discovery of a Potent, Selective, and Multiple His435 Mutation-Sensitive Thyroid Hormone Receptor β Agonist.
📚 EuropePMCmostrando 146
Thyrotroph Pituitary Neuroendocrine Tumors: Molecular Pathology, Diagnostic Challenges, and Receptor-Targeted Therapeutic Strategies.
CancersIdentification of a novel THRB mutation causing thyroid hormone resistance syndrome.
Archives of endocrinology and metabolismCoexistence of Resistance to Thyroid Hormone and a Thyroid Stimulating Hormone-Secreting Pituitary Adenoma.
AACE endocrinology and diabetes[Resistance to thyroid hormone syndrome with developmental disorders in two children].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsResistance to Thyroid Hormone Beta and Coexisting Thyroid Disease: Diagnostic and Therapeutic Challenges Illustrated by Two Cases.
Case reports in endocrinologyEffects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.
Biological & pharmaceutical bulletinExtreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation.
European thyroid journalResistance to Thyroid Hormone in Crohn's Disease: A Clinical Challenge of Refractory Thyroid Stimulating Hormone Elevation and Therapeutic Dilemmas.
Clinical case reportsMultigenerational thyroid hormone resistance due to THRβ mutation.
European heart journal. Case reportsDiscovery of a Potent, Selective, and Multiple His435 Mutation-Sensitive Thyroid Hormone Receptor β Agonist.
Journal of medicinal chemistryResmetirom Is an Effective Thyromimetics for the Chemical Rescue of Thyroid Hormone Receptor Mutants.
Biological & pharmaceutical bulletinThyroid hormone resistance due to a novel mutation in thyroid hormone receptor presenting as attention deficit hyperactivity disorder.
The National medical journal of IndiaLate-Onset Thyroid Hormone Resistance Following Total Thyroidectomy for Papillary Thyroid Cancer.
CureusGraves' Masquerade: A Case of Resistance to Thyroid Hormone (RTH) Syndrome.
CureusResistance to Thyroid Hormone in a Boy with a Severe, Complex, Congenital Heart Defect (CHD) Requiring Multiple Cardiac Surgeries-Whether and How to Prepare Child for the Surgery.
Journal of clinical medicineThyroid Hormone Resistance: A Case Report of a Novel Missense Thyroid Hormone Receptor (THR) Mutation.
CureusClinical Characteristics and Genotype-phenotype Correlation in Turkish Patients with a Diagnosis of Resistance to Thyroid Hormone Beta.
Journal of clinical research in pediatric endocrinologyThyroid Hormone Resistance With a Novel Mutation.
CureusR243W Mutation in Thyroid Hormone Resistance Syndrome Beta: A Case Report.
Journal of the ASEAN Federation of Endocrine SocietiesA Case of Thyroid Hormone Resistance Syndrome with a Novel Mutation (c.947G>a) in the THRB Gene: Experience in Diagnosis and Treatment.
International medical case reports journalThyroid Hormone Resistance Due to Thyroid Hormone Receptor Beta (THRB) Gene Mutation.
Indian journal of pediatricsThe Clinical and Genetic Diversity of Thyroid Hormone Resistance: Four Clinical Vignettes.
Hormone research in paediatricsThyroid Hormone Resistance: A 17-Year Follow-up Case Report.
Endocrine, metabolic & immune disorders drug targetsResistance to Thyroid Hormone Beta Due to THRB Mutation in a Patient Misdiagnosed With TSH-Secreting Pituitary Adenoma.
JCEM case reportsAssessment of Cardiometabolic Risk Factors and Insulin Sensitivity by Hyperinsulinemic-Euglycemic Clamp in Resistance to Thyroid Hormone β Syndrome.
Thyroid : official journal of the American Thyroid AssociationEffective TRIAC treatment of a THRβ-mutated patient with thyroid hormone resistance.
EndocrineTruncated variants of thyroid hormone receptor beta display disease-inflicting malfunctioning at cellular level.
Experimental cell researchA rare mutation in THRB gene of resistance to thyroid hormone: a case report of a Chinese pedigree.
QJM : monthly journal of the Association of PhysiciansThyroid Hormone Resistance Syndrome: From Molecular Mechanisms to Its Potential Contribution to Hypertension.
CureusCentral hyperthyroidism combined with Graves' disease: case series and review of the literature.
European thyroid journalChanges in brain structure in subjects with resistance to thyroid hormone due to THRB mutations.
Thyroid researchDiagnosis of Resistance to Thyroid Hormone due to a Rare Mutation in the Thyroid Hormone Receptor Beta Gene in a Patient Previously Presumed to Have Graves' Disease.
Military medicineCardiovascular morbidity and mortality in patients in Wales, UK with resistance to thyroid hormone β (RTHβ): a linked-record cohort study.
The lancet. Diabetes & endocrinologyResistance to Thyroid Hormone Beta in a Patient Born to a Mother With Undiagnosed Graves' Disease.
AACE clinical case reportsEffect of the Fetal THRB Genotype on the Placenta.
The Journal of clinical endocrinology and metabolismThyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.
MedicineResistance to thyroid hormone due to a novel mutation in the thyroid beta receptor (THRβ) gene coexisting with autoimmune thyroid disease-A case report.
Frontiers in geneticsResistance to thyroid hormone beta coexisting with papillary thyroid carcinoma-two case reports of a thyroid hormone receptor beta gene mutation and a literature review.
Frontiers in geneticsAtrial Fibrillation with Heart Failure in a Case with Resistance to Thyroid Hormone Due to a Rare Thyroid Hormone Receptor β Gene Mutation.
International journal of molecular sciencesThyroid hormone resistance syndrome caused by a novel mutation in the thyroid hormone receptor-beta gene (THRB, GLU457LYS) treated with methimazole.
Clinical case reportsResistance to Thyroid Hormones: A Case-Series Study.
International journal of molecular sciencesThyroid hormone resistance syndrome due to a novel heterozygous mutation and concomitant Hashimoto's Thyroiditis: A pedigree report.
The Journal of international medical researchA case of mood disorder with severe side effects of antidepressants in association with resistance to thyroid hormone beta with a THRB mutation.
Neuropsychopharmacology reportsThyroid hormone resistance: Mechanisms and therapeutic development.
Molecular and cellular endocrinologyClinically Symptomatic Resistance to Thyroid Hormone β Syndrome Because of THRB Gene Mosaicism.
The Journal of clinical endocrinology and metabolismThyroid Hormone Receptor Isoforms Alpha and Beta Play Convergent Roles in Muscle Physiology and Metabolic Regulation.
MetabolitesDiscovery of a Highly Selective and H435R-Sensitive Thyroid Hormone Receptor β Agonist.
Journal of medicinal chemistryThyroid Hormone Resistance: Multicentrical Case Series Study.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeSevere Resistance to Thyroid Hormone Beta in a Patient with Athyreosis.
Thyroid : official journal of the American Thyroid AssociationReduced pituitary size in subjects with mutations in the THRB gene and thyroid hormone resistance.
Endocrine connectionsAutoimmune thyroid disease and thyroid function test fluctuations in patients with resistance to thyroid hormone.
European journal of endocrinologyGraves' disease coexisted with resistance to thyroid hormone: a case report.
Journal of medical case reportsClinical outcomes of 34 patients with resistance to thyroid hormone beta: a twenty-year experience in Japan.
Endocrine journalAn Update on the Pathophysiology and Diagnosis of Inappropriate Secretion of Thyroid-Stimulating Hormone.
International journal of molecular sciencesA New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
International journal of molecular sciencesA rare mutation of thyroid hormone receptor beta gene in thyroid hormone resistance syndrome.
Endocrinology, diabetes & metabolism case reportsResistance to Thyroid Hormone Beta: A Focused Review.
Frontiers in endocrinologyAn overview of thyroid function tests in subjects with resistance to thyroid hormone and related disorders.
Endocrine journalTSH adenoma and syndrome of resistance to thyroid hormones-Two cases report of syndrome of inappropriate secretion of thyrotropin.
Brain and behaviorThyroid Hormone Resistance due to a Novel De Novo Mutation in Thyroid Hormone Receptor Alpha: First Case Report from the Middle East and North Africa.
Oman medical journalResistance to thyroid hormone caused by a mutation of the thyroid β receptor gene in a family over three generations.
Endokrynologia PolskaDyslipidemia, Insulin Resistance, Ectopic Lipid Accumulation, and Vascular Function in Resistance to Thyroid Hormone β.
The Journal of clinical endocrinology and metabolismGerm Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.
Thyroid : official journal of the American Thyroid AssociationIncreased Hepatic Fat Content in Patients with Resistance to Thyroid Hormone Beta.
Thyroid : official journal of the American Thyroid AssociationHypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.
Medicina (Kaunas, Lithuania)Update on resistance to thyroid hormone syndromeβ.
Italian journal of pediatricsThyroid hormone resistance syndrome with P453T mutation in thyroid hormone receptor β gene: A pedigree report.
MedicineCoexistence of Autoimmune Hyper- and Hypothyroidism in a Kindred with Reduced Sensitivity to Thyroid Hormone.
European thyroid journalThyroid Hormone Receptor α Mutations Cause Heart Defects in Zebrafish.
Thyroid : official journal of the American Thyroid AssociationThe Differential Diagnosis of Discrepant Thyroid Function Tests: Insistent Pitfalls and Updated Flow-Chart Based on a Long-Standing Experience.
Frontiers in endocrinologyCardiac complications of thyroid hormone resistance syndromes.
Annales d'endocrinologieResistance to thyroid hormone due to a novel THRB p.Val349Ala mutation in a Taiwanese boy.
Journal of the Formosan Medical Association = Taiwan yi zhiIdentification of Resistance to Exogenous Thyroxine in Humans.
Thyroid : official journal of the American Thyroid AssociationPatients with mutations of the Thyroid hormone beta-receptor show an ADHD-like phenotype for performance monitoring: an electrophysiological study.
NeuroImage. ClinicalDiagnosing Thyrotropin-Secreting Pituitary Adenomas by Short-Term Somatostatin Analogue Test.
Thyroid : official journal of the American Thyroid AssociationTherapeutic applications of thyroid hormone analogues.
Annales d'endocrinologieCD5L Constitutes a Novel Biomarker for Integrated Hepatic Thyroid Hormone Action.
Thyroid : official journal of the American Thyroid AssociationThyroid Hormone Analogues: An Update.
Thyroid : official journal of the American Thyroid AssociationA Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.
European thyroid journalStructural insights revealed by two novel THRB mutations.
EndocrineIdentification of a novel mutation in the thyroid hormone receptor β gene that causes thyroid hormone resistance syndrome: A case report.
Molecular medicine reportsPainless destructive thyroiditis in a patient with resistance to thyroid hormone: a case report.
Thyroid researchApparent resistance to thyroid hormones: From biological interference to genetics.
Annales d'endocrinologieUnraveling the Molecular Basis for Successful Thyroid Hormone Replacement Therapy: The Need for New Thyroid Tissue- and Pathway-Specific Biomarkers.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes AssociationSyndromes of Resistance to Thyroid Hormone Action.
Experientia supplementum (2012)Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene.
Thyroid : official journal of the American Thyroid AssociationQuantifying energy expenditure in childhood: utility in managing pediatric metabolic disorders.
The American journal of clinical nutritionA Rare Case of Partial Peripheral Thyroid Hormone Resistance Due to a Point Mutation in the Membrane Integrin Α(V)Β(3) and Concomitant Hashimoto`s Thyroiditis.
Open access Macedonian journal of medical sciencesChallenging diagnosis of resistance to thyroid hormone in a patient with pituitary adenoma.
BMJ case reportsNon-canonical dimerization of the androgen receptor and other nuclear receptors: implications for human disease.
Endocrine-related cancerMutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).
Molecular diagnosis & therapyInsight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β.
The Journal of clinical endocrinology and metabolismThyroid hormone resistance and the value of genetics: Three case reports.
MedicineThyroid hormone resistance from newborns to adults: a Spanish experience.
Journal of endocrinological investigationThe Mutant Thyroid Hormone Receptor Beta R320P Causes Syndrome of Resistance to Thyroid Hormone.
Case reports in endocrinologyTwo Mutations in Thyroid Hormone Receptor Beta Gene (P453A and C36Y) in a Family with Resistance to Thyroid Hormone with Comorbid Myotonic Dystrophy.
Thyroid : official journal of the American Thyroid AssociationResistance to thyroid hormone-beta co-existing with partially empty sella in a Jordanian male.
Endocrinology, diabetes & metabolism case reportsResistance to thyroid hormone β in autoimmune thyroid disease: a case report and review of literature.
BMC pregnancy and childbirthVariable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
Hormone research in paediatricsA Novel Thyroid Hormone Receptor Beta Mutation (G357R) in a Family with Resistance to Thyroid Hormone Beta: Extending the Borders of the "Hot" Region in the THRB Gene.
Thyroid : official journal of the American Thyroid AssociationResistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant - a case report.
Endokrynologia PolskaClinical and Molecular Characteristics of Eight Israeli Families with Thyroid Hormone Receptor Beta Mutations.
The Israel Medical Association journal : IMAJRole of Leucine 341 in Thyroid Hormone Receptor Beta Revealed by a Novel Mutation Causing Thyroid Hormone Resistance.
Thyroid : official journal of the American Thyroid AssociationResistance to thyroid hormone accompanied by atrial fibrillation.
Endocrinology, diabetes & metabolism case reportsPathological Interactions Between Mutant Thyroid Hormone Receptors and Corepressors and Their Modulation by a Thyroid Hormone Analogue with Therapeutic Potential.
Thyroid : official journal of the American Thyroid AssociationThyroid Hormone Resistance in Identical Twin Sisters with Atrial Fibrillation: Case Report and Review of the Literature.
Journal of endocrinology and diabetesAssessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center.
EndocrineHuman Genetics of Thyroid Hormone Receptor Beta: Resistance to Thyroid Hormone Beta (RTHβ).
Methods in molecular biology (Clifton, N.J.)Pituitary resistance to thyroid hormone caused by a novel mutation (H435A) in the thyroid hormone receptor beta: A case report.
MedicineGraves' disease coexisting with resistance to thyroid hormone: a rare case.
Clinical case reportsNuclear Import and Export of the Thyroid Hormone Receptor.
Vitamins and hormones[Clinical characteristics of thyroid hormone resistance syndrome in two cases with different subtypes].
Zhonghua er ke za zhi = Chinese journal of pediatricsNoncanonical thyroid hormone signaling mediates cardiometabolic effects in vivo.
Proceedings of the National Academy of Sciences of the United States of AmericaRESISTANCE TO THYROID HORMONES: A NOVEL MUTATION OF THE THYROID HORMONE RECEPTOR β GENE IN AN ALGERIAN FAMILY.
Acta endocrinologica (Bucharest, Romania : 2005)Prenatal Diagnosis of Resistance to Thyroid Hormone and Its Clinical Implications.
The Journal of clinical endocrinology and metabolismNovel Mutation (T273R) in Thyroid Hormone Receptor β Gene Provides Further Insight into Cryptic Negative Regulation by Thyroid Hormone.
Folia biologicaRetinal Photoreceptor Functions Are Compromised in Patients With Resistance to Thyroid Hormone Syndrome (RTHβ).
The Journal of clinical endocrinology and metabolismThe syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways.
Scientific reportsTherapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes.
Molecular and cellular endocrinologyA new TRβ mutation in resistance to thyroid hormone syndrome.
Hormones (Athens, Greece)Thyroid hormone resistance syndrome - own experiences.
Pediatric endocrinology, diabetes, and metabolismA Case of Resistance to Thyroid Hormone (RTH) with a Negative Family History with Diagnosis Based on Persistent Palpitations.
Journal of UOEHGene expression of T3-regulated genes in a mouse model of the human thyroid hormone resistance.
Life sciencesResistance to Thyroid Hormone Complicated with Type 2 Diabetes and Cardiomyopathy in a Patient with a TRβ Mutation.
Internal medicine (Tokyo, Japan)Not all elevated hormones are toxic: A case of thyroid hormone resistance.
Journal of family medicine and primary careIn vivo Functional Consequences of Human THRA Variants Expressed in the Zebrafish.
Thyroid : official journal of the American Thyroid AssociationA Novel Thyroid Hormone Receptor Beta Gene Mutation (G251V) in a Thai Patient with Resistance to Thyroid Hormone Coexisting with Pituitary Incidentaloma.
Thyroid : official journal of the American Thyroid AssociationSyndrome of Reduced Sensitivity to Thyroid Hormones: Two Case Reports and a Literature Review.
Case reports in endocrinologyResistance to Thyroid Hormone - A Novel Mutation in THRβ-Gene from India.
Indian journal of pediatricsCoexistence of resistance to thyroid hormone and ectopic thyroid: ten-year follow-up.
Archives of endocrinology and metabolismThyroid hormone resistance syndrome caused by heterozygous A317T mutation in thyroid hormone receptor β gene: Report of one Chinese pedigree and review of the literature.
MedicineCoexistence of resistance to thyroid hormone and papillary thyroid carcinoma.
Endocrinology, diabetes & metabolism case reports[Impaired sensitivity to thyroid hormone].
Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekkePatterns of thyroid hormone receptor expression in zebrafish and generation of a novel model of resistance to thyroid hormone action.
Molecular and cellular endocrinologySuccessful every-other-day liothyronine therapy for severe resistance to thyroid hormone beta with a novel THRB mutation; case report.
BMC endocrine disordersPeriodic Paralysis as a New Phenotype of Resistance to Thyroid Hormone Syndrome in a Chinese Male Adult.
The Journal of clinical endocrinology and metabolismThyroid Hormone Receptor α Plays an Essential Role in Male Skeletal Muscle Myoblast Proliferation, Differentiation, and Response to Injury.
EndocrinologyA Rare Mutation in Patients With Resistance to Thyroid Hormone and Review of Therapeutic Strategies.
The American journal of the medical sciencesTBL1XR1 in physiological and pathological states.
American journal of clinical and experimental urologyCharacteristics of patients with late manifestation of resistance thyroid hormone syndrome: a single-center experience.
EndocrineA Patient With a Thyrotropin-Secreting Microadenoma and Resistance to Thyroid Hormone (P453T).
The Journal of clinical endocrinology and metabolismTwo Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolismeThyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
Journal of medical geneticsResistance to thyroid hormone due to a novel mutation of thyroid hormone receptor beta gene.
Annals of pediatric endocrinology & metabolismA case of thyroid hormone resistance: a rare mutation.
Arquivos brasileiros de endocrinologia e metabologiaA novel mutation of thyroid hormone receptor β in exon 10 in a case of thyroid hormone-resistant non-Hodgkin's lymphoma of the thyroid.
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Ainda não existe comunidade no Raras para Resistência a levotiroxina por mutação no receptor beta do hormônio tireoidiano
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- [Resistance to thyroid hormone syndrome with developmental disorders in two children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics· 2026· PMID 41582758mais citado
- Thyrotroph Pituitary Neuroendocrine Tumors: Molecular Pathology, Diagnostic Challenges, and Receptor-Targeted Therapeutic Strategies.
- Identification of a novel THRB mutation causing thyroid hormone resistance syndrome.
- Coexistence of Resistance to Thyroid Hormone and a Thyroid Stimulating Hormone-Secreting Pituitary Adenoma.
- Multigenerational thyroid hormone resistance due to THRβ mutation.
- Effects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.
- Extreme resistance to thyroid hormone caused by a novel mosaic thyroid hormone receptor beta mutation.
- Discovery of a Potent, Selective, and Multiple His435 Mutation-Sensitive Thyroid Hormone Receptor β Agonist.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:566243(Orphanet)
- MONDO:0700478(MONDO)
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar