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Hipotireoidismo do adulto raro
ORPHA:177101DOENÇA RARA

OBSOLETO. Um hipotireoidismo que ocorre em um adulto.

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Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin100% com fonte · atualizado 25/09/2026
Informacoes curadas por IA — podem conter imprecisoes

Visão geral

O termo 'hipotireoidismo do adulto raro' refere-se a um quadro de hipotireoidismo que ocorre em indivíduos adultos, estando classificado como uma entidade obsoleta nos registros nosológicos.[1]

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Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

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EM LINGUAGEM SIMPLES

O termo **hipotireoidismo do adulto raro** é um registro histórico da base de dados Orphanet que classificava quadros de hipotireoidismo desenvolvidos em pessoas adultas. Atualmente, essa classificação é considerada obsoleta, pois a medicina agrupa essas alterações de acordo com a causa específica do distúrbio da tireoide. Não há uma lista de sintomas exclusiva definida nesta ficha, e a manifestação depende inteiramente da patologia original de cada paciente. Esta condição não consta na lista oficial de Protocolos Clínicos e Diretrizes Terapêuticas (PCDT) de doenças raras do Ministério da Saúde, devendo a investigação ser acompanhada individualmente na rede de referência.

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Informacoes curadas por IA — podem conter imprecisoes

OBSOLETO. Um hipotireoidismo que ocorre em um adulto.

Publicações científicas
406 artigos
Último publicado: 2026 Apr 15
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Pitolisant-associated mania - a case report.

BMC neurology2026 Jan 29

Narcolepsy is a chronic neurological disorder treated with medications that promote wakefulness. Pitolisant, a histamine H3 receptor inverse agonist, is used to reduce excessive daytime sleepiness. Although pitolisant clinical trials describe mainly mild adverse effects, severe psychiatric reactions have been reported, yet detailed clinical descriptions remain limited. This case describes a first-onset manic episode with psychotic features shortly after pitolisant initiation in an adult without any psychiatric history, highlighting a rare but clinically significant potential reaction. A 51-year-old woman newly diagnosed with narcolepsy type 2 without psychiatric history began treatment with pitolisant, titrated up to 36 mg daily. She did not use recreational substances and had hypothyroidism well-managed with levothyroxine. After swift initial improvement in wakefulness, she developed behavioral changes including heightened sociability, impulsivity, and decreased need for sleep. Within weeks, the condition progressed to a severe manic state characterized by paranoid ideation, auditory hallucinations, and disinhibition. Primary care treatment with low-dose sedatives demonstrated minimal effect, resulting in referral for involuntary psychiatric admission. Comprehensive neurological, infectious, metabolic, and autoimmune evaluations were without remarks. Pitolisant was discontinued upon admission. Management included high-dose olanzapine, lorazepam, and subsequently electroconvulsive therapy, after which the manic episode resolved. She was stabilized on risperidone and olanzapine, which were gradually tapered as her condition improved. At follow-up two months after discharge, she remained euthymic and was referred to primary care. This case demonstrates a severe manic episode with psychotic symptoms emerging shortly after pitolisant initiation in an adult without prior psychiatric vulnerability. The temporal association, absence of alternative medical explanations, and resolution after drug discontinuation suggest a possible medication-related trigger. Clinicians prescribing pitolisant should closely monitor for early behavioral or mood changes, particularly during dose increases, and recognize that significant psychiatric reactions may occur even in individuals with no prior mental health history.

#2

Real or Not Real? An Elevated TSH.

Journal of investigative medicine high impact case reports2026

A 19-year-old male presented with mild fatigue and chronic constipation and was found to have an elevated thyroid-stimulating hormone (TSH) level of 85 mIU/L, normal free thyroxine, and normal total triiodothyronine. This presentation was concerning for Macro-TSH, which is rare and may suggest hypothyroidism. This patient's diagnosis of Macro-TSH was confirmed by TSH antibody testing and gel filtration chromatography. We present this case to highlight the need to further evaluate TSH results when thyroid function tests are incompatible with the clinical presentation. Assessment for TSH antibodies, a commercially available test, or gold-standard gel filtration chromatography testing, which is not commercially available, can be used to diagnose Macro-TSH.

#3

Splenectomy vs. splenopexy and analysis of wandering spleen management across age groups: a case report.

International journal of surgery case reports2026 Mar

Wandering spleen is a rare clinical entity characterized by abnormal splenic mobility due to ligamentous laxity or absence, with an estimated incidence below 0.2%. This condition poses diagnostic and therapeutic challenges, as it ranges from asymptomatic presentations to acute abdomen secondary to torsion or infarction. An 83-year-old woman with chronic obstructive pulmonary disease, hypothyroidism, and coronary artery disease presented with 5 days of progressive abdominal pain, vomiting, and distension. Examination revealed a 10 × 10 cm left upper quadrant mass. Computed tomography confirmed an ectopic spleen causing small bowel obstruction. Exploratory laparotomy with splenectomy was performed, revealing a 10 × 12 cm mobile spleen with intact vasculature. Postoperative recovery was uneventful, highlighting the efficacy of surgical intervention in elderly patients. Wandering spleen's pathogenesis involves congenital (embryonic ligamentous maldevelopment) or acquired (pregnancy, connective tissue disorders) mechanisms. Complications like torsion (reported in 65% of untreated cases) may lead to infarction, rupture, or pancreatitis. While splenopexy is preferred for splenic preservation, splenectomy remains indicated in older patients or vascular compromise, as in our case. Literature review of 10 cases (ages 3-83 years) demonstrates age-dependent management: pediatric cases favor splenopexy, whereas adults more often undergo splenectomy. Timely imaging and surgical intervention are critical in wandering spleen management. Individualized approaches-prioritizing splenopexy in young patients and splenectomy in elderly or high-risk cases-optimize outcomes. Standardization of surgical techniques and long-term follow-up data are needed to refine treatment protocols.

#4

Nivolumab for unresectable cutaneous epithelial malignancies: an open-label, single-arm, multi-centre, phase II trial (NMSC-PD1).

BMC cancer2026 Mar 04

Data in East Asian patients and in other epithelial skin cancers, including extramammary Paget's disease (EMPD) and adnexal carcinomas, are scarce. Therefore, we conducted a phase II trial of nivolumab in Japanese patients with advanced non-melanoma skin cancers (NMSCs). This multicentre, open-label, single-arm phase II study enrolled adults (≥ 20 years) with histologically confirmed unresectable or recurrent epithelial cutaneous malignancies, Eastern Cooperative Oncology Group performance status 0-1, and at least one measurable lesion (RECIST v1.1). Nivolumab 480 mg was administered intravenously every 4 weeks for up to 26 cycles. The primary endpoint was overall response rate (ORR), assessed by blinded independent central review (BICR; RECIST v1.1). Secondary endpoints included progression-free survival, overall survival, and safety. Thirty-one patients were enrolled (20 cSCC, 4 EMPD, 2 BCC, 5 other NMSCs); median age was 73 years (range 58-86), and 71% were male. ORR by BICR was 22.6% (7/31), and the disease control rate was 54.8% (17/31). Responses were durable, with a median duration of 21.3 months. In the cSCC cohort, median tumour mutational burden (TMB) was 9.0 mut/Mb, lower than in Western series; among three patients with TMB ≥ 30 mut/Mb, two achieved objective responses. Common adverse events included pyrexia, hypothyroidism, adrenal insufficiency, and pruritus. Nivolumab showed durable antitumour activity with manageable toxicity in Japanese patients with advanced NMSCs, including rare non-cSCC. The lower ORR compared with Western trials may reflect intrinsic biological differences and support biomarker-driven, region-specific immunotherapy. jRCT2031190048; registered 2 July 2019.

#5

Autoimmune hyperthyroidism following haematopoietic stem cell transplant for multiple sclerosis in an adult female: a case report and literature review.

Endocrinology, diabetes & metabolism case reports2026 Jan 01

Haematopoietic stem cell transplant (HSCT) is a novel treatment utilised in a number of malignant and non-malignant conditions, with promising results in multiple sclerosis (MS), particularly in those not responding to previous disease-modifying therapies. There is existing evidence to suggest that HSCT has been linked to, in rare cases, autoimmune thyroid dysfunction. Much of the current literature highlights paediatric occurrences. The most common dysfunction noted is hypothyroidism, seen in 40% of cases, with other autoimmune thyroid dysfunctions reported less commonly. A 34-year-old female represents a unique case of autoimmune hyperthyroidism secondary to haematopoietic stem cell transplant completed for relapsing-remitting MS. One year following her HSCT, she presented with fatigue, brain fog, palpitations and tremors, and blood tests revealed thyrotoxicosis with elevated thyroid receptor antibody levels (TSH receptor antibodies). She was diagnosed with Graves' disease and treated with carbimazole and propranolol acutely; she is currently under regular endocrine follow-up. Ongoing multidisciplinary collaboration to holistically support her complex health needs continues, and a symptomatic improvement has been noted. Secondary autoimmune diseases, such as Graves' disease, can develop in 2-14% of patients following autologous HSCT for MS. In our case, the timeline for development of Graves' disease post-HSCT is 10-12 months, which aligns with a previous reported case in the literature of between 8 and 32 months. Thyroid function test should be monitored regularly post-HSCT for MS as both autoimmune hyperthyroidism (Graves' disease) and hypothyroidism can develop. We aim to highlight to clinicians about this rare occurrence of Graves' disease post-HSCT.

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

Real or Not Real? An Elevated TSH.

Journal of investigative medicine high impact case reports
2026

Splenectomy vs. splenopexy and analysis of wandering spleen management across age groups: a case report.

International journal of surgery case reports
2025

Primary NOS carcinoma arising in a lingual ectopic thyroid: diagnostic strategy and multidisciplinary management.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2026

Nivolumab for unresectable cutaneous epithelial malignancies: an open-label, single-arm, multi-centre, phase II trial (NMSC-PD1).

BMC cancer
2026

Autoimmune hyperthyroidism following haematopoietic stem cell transplant for multiple sclerosis in an adult female: a case report and literature review.

Endocrinology, diabetes & metabolism case reports
2026

Health check revealed elevation of creatine kinase related to hypothyroidism.

Endocrinology, diabetes & metabolism case reports
2026

Cronkhite-Canada syndrome, hypothyroidism and positive autoantibodies: a case report.

Journal of medical case reports
2026

Case report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder.

International breastfeeding journal
2026

[Invasive aspergillosis of the sphenoid sinus as a differential diagnosis in lesions of the sellar region].

Medicina
2026

Hypopituitarism in patients with prolactinomas: a narrative review.

Best practice & research. Clinical endocrinology & metabolism
2026

Pitolisant-associated mania - a case report.

BMC neurology
2026

Cytomegalovirus colitis in a woman with Sheehan syndrome.

QJM : monthly journal of the Association of Physicians
2026

Impact of growth hormone treatment on a 12-year-old female with newly diagnosed panhypopituitarism and distal arthrogryposis.

Endocrinology, diabetes & metabolism case reports
2026

Oral Levothyroxine for Myxedema Crisis: A Case Series from a Tertiary Referral Center.

Journal of the Endocrine Society
2025

Mitotane-Induced Hypothyroidism and Dyslipidemia in Adrenocortical Carcinoma: Sex Differences and Novel Evidence from a Thyroid Cell Model.

Current oncology (Toronto, Ont.)
2025

A rare presentation of hypothyroid myopathy: pseudohypertrophy of calf muscles.

BMJ case reports
2025

Radiological findings in fulminant cerebral malaria: a rare neuroimaging presentation.

Malaria journal
2025

Increased risk of hyperthyroidism induced by immune checkpoint inhibitors in patients with existing or prior Graves' disease: a nested prospective cohort study with propensity score matching.

Frontiers in endocrinology
2025

Thyroid function and cognitive health: rethinking the relationship between "suboptimal" TSH/FT4 levels and cognitive decline.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2026

Spontaneous adult-onset primary hypothyroidism in 17 cats.

Journal of feline medicine and surgery
2025

Acute Kidney Injury After Accelerated Dosing of Tirzepatide in a Patient with Multiple Comorbidities: A Case Report.

The American journal of case reports
2026

Efficacy and safety of pembrolizumab with or without lenvatinib in recurrent uterine carcinosarcoma: a real-world single-center study.

Gynecologic oncology
2025

Primary thyroid lymphoma: a tertiary-center experience.

Endokrynologia Polska
2026

Delay in Diagnosis of Thyroid-Stimulating Hormone-Secreting Pituitary Adenomas: Clinical and Endocrinological Profiles from a Retrospective Cohort Study.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
2025

Renal hypouricemia type 2 in a patient with latent autoimmune diabetes in adults: a case report and literature review.

BMC nephrology
2025

Intracranial IgG4-related Disease: Insights from Two Cases.

The Journal of the Association of Physicians of India
2025

A Rare Case of Hemangioma in the Thyroid: Clinical Presentation and Management Insights.

The Tokai journal of experimental and clinical medicine
2026

Three-generation familial transmission of a GNAS variant: from gestational phenotype in the mother to evolving prenatal/neonatal phenotype in the offspring.

Hormones (Athens, Greece)
2025

Post-COVID-19 Painless Thyroiditis: A Case Study on Thyrotoxicosis Management.

The American journal of case reports
2025

[Mixed type II cryoglobulinemiaassociated glomerulonephritis revealing an extragastric marginal zone lymphoma in the absence of viral infection: A rare case report from Bourges Hospital].

Nephrologie & therapeutique
2025

Hoffmann Syndrome: A rare presentation of hypothyroid myopathy.

Folia medica
2025

Immune checkpoint inhibitors combined with tyrosine kinase inhibitors for soft-tissue sarcomas: a systematic review and single-arm meta-analysis.

The oncologist
2025

[Hypocomplementemic urticarial vasculitis in SLE: between urticaria and autoimmunity].

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993)
2025

Aeromedical evaluation and successful return to flight in a military pilot with lingual thyroid: a case report and follow-up.

BMC endocrine disorders
2025

The Targets of Immune Adverse Events in Cancer Immunotherapy by Combined Check-point Inhibitors Resemble those Seen in IPEX Patients.

Journal of clinical immunology
2025

Atypical subacute thyroiditis mimicking tuberculosis: a case report and review of literature.

Journal of medical case reports
2025

A unilateral presentation of pigmented paravenous chorioretinal atrophy: a case report.

Documenta ophthalmologica. Advances in ophthalmology
2025

Determinants of Multi-Organ Morbidity in Neo-Transfusion-Dependent Thalassemia: A Cross-Sectional Analysis.

Journal of clinical medicine
2025

Patients with langerhans cell histiocytosis and hypothalamic-pituitary involvement: insights from the HEROS study cohort.

Pituitary
2025

Nexiguran Ziclumeran Gene Editing in Hereditary ATTR with Polyneuropathy.

The New England journal of medicine
2025

"Ewing's sarcoma of the duodenum: a rare gastrointestinal presentation": case report and review of literature.

World journal of surgical oncology
2025

Steroid-responsive encephalopathy associated with autoimmune thyroiditis.

BMJ case reports
2025

Clinical features and treatment of morphea patients: a retrospective analysis.

European journal of dermatology : EJD
2025

Multidisciplinary management of concurrent small cell lung cancer and hepatocellular carcinoma: A rare case report with long-term survival.

Medicine
2025

Case Report: A patient with an empty sella accompanied by rare thyrotoxicosis.

Frontiers in endocrinology
2025

Severe, prolonged primary hypothyroidism causing ovarian hyperstimulation: an adult presentation (Van Wyk-Grumbach syndrome).

BMJ case reports
2025

Acquired hemophilia a in a female with minimal change disease and hypothyroidism: a rare case report.

Annals of medicine and surgery (2012)
2025

Silent killer - a case of sudden death linked to lymphocytic thyroiditis.

The Malaysian journal of pathology
2025

Podocyte infolding glomerulopathy: Clinical insights from two case studies in Malaysia.

The Malaysian journal of pathology
2025

Atypical IgG4 related hypophysitis revealed by submandibular sialadenitis: a case report.

Endocrine regulations
2025

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature.

BMC endocrine disorders
2025

Long-term behaviour of non-functioning pituitary microadenomas: experience from a tertiary care centre in Romania.

Frontiers in endocrinology
2025

Rhabdomyolysis and Pericardial Effusion Resulting From Hypothyroidism Associated With Acute Myeloid Leukemia.

AACE endocrinology and diabetes
2025

Prevalence of multi-organ complications in patients with non-transfusion and neo-transfusion dependent thalassemia: a cross-sectional survey.

Blood cells, molecules & diseases
2025

Surgeon-performed point-of-care ultrasound and ultrasound-guided core biopsy reduce diagnostic invasiveness in primary thyroid lymphoma.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Sheehan's syndrome complicated with Graves' disease in a woman with a 20-year history of hypothyroidism.

The Journal of international medical research
2025

Upper gastrointestinal hemorrhage as a manifestation of systemic lupus erythematosus: a case report.

Journal of medical case reports
2025

Hypophosphatasia: A case report.

World journal of clinical cases
2025

Italian guidelines for the management of adult individuals with primary hypothyroidism outside pregnancy.

Journal of endocrinological investigation
2025

Long-term endocrine outcomes and quality of life in paediatric and young chronic myeloid leukaemia patients on tyrosine kinase inhibitor therapy: a prospective study from India.

Frontiers in oncology
2025

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

European journal of human genetics : EJHG
2025

Risk factors and outcomes of thyroid immune-related adverse events following PD-1/PD-L1 inhibitors treatment in a large tertiary Chinese center.

BMC endocrine disorders
2025

Scary but innocent "blast-like" cells-potentially helpful diagnostic feature for chronic lymphocytic thyroiditis.

Journal of the American Society of Cytopathology
2025

Impending myxedema as a manifestation of subclinical hypothyroidism in a case of systemic lupus erythematosus: A case report.

Medicine
2025

Distinguishing immune checkpoint inhibitor-induced hypothyroid myopathy from myositis: a case report and review.

Neuromuscular disorders : NMD
2025

[Myxedema psychosis, a rare complication of untreated hypothyroidism].

Nederlands tijdschrift voor geneeskunde
2025

Turner syndrome and postpubertal Empty sella syndrome: a case report and literature review.

Frontiers in endocrinology
2025

Development of Thyrotoxicosis With Positive TSH Receptor Antibody and Transition to Hypothyroidism in a Patient With Unresectable Hepatocellular Carcinoma During Combined Atezolizumab and Bevacizumab Therapy: A Case Report and Review of the Literature.

The Kurume medical journal
2025

Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity.

European journal of endocrinology
2025

Clinical and Genetic Characteristics of Adult Nonautoimmune Hypothyroidism: A Single-institution Study.

The Journal of clinical endocrinology and metabolism
2025

Erdheim-Chester with central nervous system involvement: Complex histopathological diagnosis and neurosurgical challenges in a rare histiocytic disorder.

Surgical neurology international
2025

Delayed diagnosis of the full triad autoimmune polyendocrine syndrome type 2 with adrenal crisis: a case report and literature review.

Frontiers in immunology
2025

A Rare Case of Catecholamine-Secreting Adrenal Myelolipoma.

Journal of the ASEAN Federation of Endocrine Societies
2025

Sintilimab-induced diabetes mellitus and thyroid dysfunction in patient with gastric adenocarcinoma: A case report and literature review.

Medicine
2025

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

HGG advances
2025

Thyroid Function Reference Intervals by Age, Sex, and Race : A Cross-Sectional Study.

Annals of internal medicine
2025

Effects of Commonly Prescribed Medications on Sleep: A Review of the Literature.

Mayo Clinic proceedings
2025

A case of unexpected thyroid storm in postpartum.

The Journal of international medical research
2025

Evaluation of autoimmune and inflammatory markers in bilateral sudden hearing loss.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
2025

Successful assisted pregnancy outcome in a patient with POEMS syndrome.

BMJ case reports
2025

Venotoclax associated hypothyroidism in a patient with acute myeloid leukemia.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2025

Unilateral idiopathic spontaneous filtering bleb repaired by donor scleral patch graft.

Digital journal of ophthalmology : DJO
2025

Cemiplimab and diabetic ketoacidosis: a case report of a rare endocrinopathy associated with immune checkpoint inhibitors.

Frontiers in endocrinology
2025

Hypothyroidism following immunotherapy predicts more postoperative complication in oral squamous cell carcinoma.

BMC cancer
2025

Uncovering non-autoimmune hypothyroidism: A case report of rhabdomyolysis and myocarditis mimicking acute coronary syndrome.

Medicine
2025

Rare Immuno-Induced Keratoacanthomas Showed on 18F-FDG PET/CT in a Metastatic Melanoma Patient.

Clinical nuclear medicine
2025

[Hypoglycemia in a patient with pleural solitary fibrous tumor and response to pasireotide].

Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)
2024

Spontaneous left pneumothorax revealing an atypical carcinoid tumor: a case report.

The Pan African medical journal
2025

Recovery of hypopituitarism in macroprolactinomas: a comparison of medical vs. surgical treatment. Results from a European multicenter study.

Journal of endocrinological investigation
2025

The occurrence of low thyroxine concentrations and response to thyrotropin-releasing hormone using equine and canine assays in a population of Standardbred racehorses in Prince Edward Island, Canada.

Journal of equine veterinary science
2025

Hypopituitarism presenting with cardiovascular manifestations: a case report.

BMC cardiovascular disorders
2025

When thyroid met brain: the enigma of steroid responsive encephalopathy associated with autoimmune thyroiditis a case report.

Frontiers in immunology
2025

Clinical characteristics and unique presentations of immune checkpoint inhibitor induced type 1 diabetes in Chinese patients from a single institution.

Scientific reports
2025

Screening for naturally occurring hypothyroidism in adult cats: A prospective multi-center study in Central Europe.

Schweizer Archiv fur Tierheilkunde
2025

Giant cell carcinoma resembling the lung in the ovary: challenges and treatment approaches.

BMJ case reports
2025

Muscle pseudohypertrophy as the presenting manifestation of autoimmune hypothyroidism: Hoffmann's syndrome.

BMJ case reports
2024

Case report: Complete response in TMB-H advanced uterine clear cell carcinoma: a case analysis of paclitaxel albumin-bound combined with PD-1/CTLA-4 bispecific antibody.

Frontiers in immunology
2025

A clinical challenge: delayed diagnosis of autoimmune polyglandular syndrome type II in a patient with thyroid eye disease.

Orbit (Amsterdam, Netherlands)
2024

Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.

International journal of molecular sciences
2024

Thyroid metastasis of clear renal cell carcinoma: a case report and review of the literature.

The Pan African medical journal
2024

Complicated small-bowel diverticulosis and the role of Acute Care for the Elderly Unit.

Journal of family & community medicine
2024

Inflammatory Mesenteric Disease and Sarcoidosis-like Reaction in a Patient with Lung Adenocarcinoma Who Received Pembrolizumab: Paraneoplastic Syndrome, Secondary to Checkpoint Inhibitor or Chance Finding?

Current oncology (Toronto, Ont.)
2025

Immune checkpoint inhibitor-related type 1 diabetes incidence, risk, and survival association.

Journal of diabetes investigation
2025

Subclinical Hypothyroidism as an Independent Predictor of Cardiovascular Prognosis in Left Ventricular Thrombus Patients.

The Journal of clinical endocrinology and metabolism
2024

Coexisting parathyroid adenoma, thyroid carcinoma, and tuberculosis of thyroid: a case report.

Journal of medical case reports
2024

Reversible elevation of creatine kinase and creatinine caused by sintilimab-induced hypothyroidism: A case report.

Medicine
2024

Effects of iodine contrast media on thyroid function - a prospective study.

European thyroid journal
2024

Signal detection of immune thrombocytopenia associated with immune checkpoint inhibitors.

Scientific reports
2024

Encephalopathy with cerebellar deficits in a context of hyponatremia.

Acta neurologica Belgica
2024

Phase II basket trial of dual anti-CTLA-4 and anti-PD-1 blockade in rare tumors (DART) SWOG S1609: the desmoid tumors.

Journal for immunotherapy of cancer
2025

Expanding the Spectrum of Endocrine Abnormalities Associated With SOX11-related Disorders.

The Journal of clinical endocrinology and metabolism
2024

Subacute thyroiditis: a rare presentation in pregnancy.

Endokrynologia Polska
2024

Ebstein Anomaly Successfully Treated With Levosimendan Postoperatively in a 60-Year-Old Female: A Case Report.

Cureus
2024

Erdheim-Chester Disease Presenting as Bilateral Facial Masses: A case report and review of literature.

Sultan Qaboos University medical journal
2024

Primary thyroid lymphoma: A multi-center retrospective review.

American journal of surgery
2024

Triiodothyronine levels in athyreotic pediatric patients during levothyroxine therapy.

Frontiers in endocrinology
2024

Normal Values for the fT3/fT4 Ratio: Centile Charts (0-29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.

International journal of molecular sciences
2024

[The 509th case: fatigue, sleepiness, mood disorder, and hypothyroidism].

Zhonghua nei ke za zhi
2024

Clinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.

Cytogenetic and genome research
2024

Hashimoto's thyroiditis masquerading as acute tubular injury and rhabdomyolysis.

Jornal brasileiro de nefrologia
2024

Dual challenge inside the womb: a case report of concomitant fetal atrio-ventricular block associated with maternal anti-SSA antibodies and fetal tachyarrhythmia diagnosed as Wolff-Parkinson-White syndrome after birth.

Frontiers in immunology
2025

Methimazole-Induced Pancytopenia in a Patient with Graves' Disease: A Case Report and Literature Review.

Current drug safety
2024

Machine learning characterization of a rare neurologic disease via electronic health records: a proof-of-principle study on stiff person syndrome.

BMC neurology
2024

Defective thyroid hormone transport to the brain leads to astroglial alterations.

Neurobiology of disease
2024

Thyroid dysfunction in the wake of Omicron: understanding its role in COVID-19 severity and mortality.

Frontiers in endocrinology
2024

Acitretin induced primary hypothyroidism in Darier's disease: A rare case report.

Indian journal of pharmacology
2024

Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters.

JCEM case reports
2023

Case Report: Disseminated hydatid cyst: Unusual presentation and therapeutic challenges.

F1000Research
2024

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Frontiers in endocrinology
2024

Large-scale whole-exome sequencing analyses identified protein-coding variants associated with immune-mediated diseases in 350,770 adults.

Nature communications
2024

Pericardial Effusion as a Complication of Severe Primary Hypothyroidism.

South Dakota medicine : the journal of the South Dakota State Medical Association
2024

Systematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.

PloS one
2024

Pituitary-adrenal axis dysfunction induced by tislelizumab immunotherapy for non-small cell lung cancer: a case series and literature review.

BMC pulmonary medicine
2024

Increased incidence of myxedema coma during the COVID-19 pandemic and in the post pandemic era: a single-center case series.

Internal and emergency medicine
2024

Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Cardiac tamponade - a rare cause of sudden death in autoimmune polyglandular syndrome.

Forensic science, medicine, and pathology
2024

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Journal of the peripheral nervous system : JPNS
2024

Subclinical hypothyroidism predicts outcome in heart failure: insights from the T.O.S.CA. registry.

Internal and emergency medicine
2024

Impaired autonomic function and somatosensory disturbance in patients with treated autoimmune thyroiditis.

Scientific reports
2024

Post-traumatic pituitary stalk transection syndrome (PSTS) expeditiously manifested after a fall from a height combined with acute traumatic spinal cord injury: a rare case report with review of literature.

Endocrine journal
2024

Cerebellar syndrome as the presenting feature of Hashimoto encephalopathy.

BMJ case reports
2024

Case report: Is severe toxicity the price to pay for high sensitivity to checkpoint inhibitors immunotherapy in desmoplastic melanoma?

Frontiers in immunology
2024

Hypopituitarism with secondary adrenocortical insufficiency and arginine vasopressin deficiency due to hypophysitis after COVID-19 vaccination: a case report.

BMC endocrine disorders
2024

Pembrolizumab-induced type 1 diabetes.

Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners
2024

Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.

Thyroid : official journal of the American Thyroid Association
2025

Clinical Characteristics of Children with <italic>THRA</italic> Mutations: Variable Phenotype and Good Response to Recombinant Human Growth Hormone Therapy.

Hormone research in paediatrics
2023

Periorbital Oedema Associated with Hypothyroidism - A Case Report.

Indian journal of dental research : official publication of Indian Society for Dental Research
2024

The association between BNT162b2 vaccinations and incidence of immune-mediated comorbidities.

Vaccine
2024

Challenges in autoimmune polyendocrine syndrome type 2 with the full triad induced by anti-programmed cell death 1: a case report and review of the literature.

Frontiers in immunology
2025

Thyroid Dysfunction Risk After Iodinated Contrast Media Administration: A Prospective Longitudinal Cohort Analysis.

The Journal of clinical endocrinology and metabolism
2024

Symptomatic Pericardial Effusion Associated With Graves' Disease in a Pediatric Patient.

Pediatrics
2024

Current utility of first-line FT4 and TSH in screening for central hypothyroidism.

Clinical endocrinology
2024

Chronic Adult-Onset Still's Disease With Positive Antinuclear Antibodies: Navigating Diagnostic Dilemmas and Clinical Implications.

Cureus
2024

Immune Checkpoint Inhibitor Use During Pregnancy and Outcomes in Pregnant Individuals and Newborns.

JAMA network open
2024

Dilated cardiomyopathy due to hypocalcaemia: a case report.

Journal of medical case reports
2024

Impact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia.

Annals of hematology
2024

A vocal cord palsy caused by the uterine cancer metastatic tumor in the mediastinum revealed in a patient with a thyroid lesion: a case report and review of the literature.

Journal of medical case reports
2023

Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.

Frontiers in endocrinology
2023

SARS-CoV-2 Infection in Pemphigus Vulgaris Two Weeks after Rituximab Therapy with Total Recovery: A Case Report.

Acta dermatovenerologica Croatica : ADC
2024

Challenges and pitfalls in the management of endocrine toxicities from immune checkpoint inhibitors: a case presentation of synchronous thyrotoxicosis and primary adrenal insufficiency in a melanoma patient.

Hormones (Athens, Greece)
2024

Primary thyroid lymphoma: a case series.

Journal of medical case reports
2024

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

Superior Orbital Fissure Syndrome in the Setting of Relapsing Polychondritis with Concurrent Sjogren's Syndrome: A Case Report.

Ocular immunology and inflammation
2023

Case report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD.

Frontiers in endocrinology
2025

Intracranial lipoma: an incidental finding and a rare cause of secondary headache.

The International journal of neuroscience
2024

Hypophysitis after COVID-19 vaccination in a patient with Rathke's cleft cyst: A case report.

Human vaccines &amp; immunotherapeutics
2023

[Autoimmune polyendocrine syndrome in adults. Focus on rheumatological aspects of the problem: A review].

Terapevticheskii arkhiv
2024

Idiopathic isolated adrenocorticotropic hormone deficiency: a systematic review of a heterogeneous and underreported disease.

Pituitary
2023

A Case of Polymyositis Associated with Cytomegalovirus Infection in a Patient with Hashimoto's Thyroiditis.

Life (Basel, Switzerland)
2023

Waldenström's Macroglobulinemia and Cryoglobulinemic Glomerulonephritis: An Unusual Case of Monoclonal Gammopathy of Renal Significance.

Medical sciences (Basel, Switzerland)
2024

Transition from Hashimoto thyroiditis to Graves's Disease: an unpredictable change?

Endocrine
2024

Hoffmann's syndrome in subclinical hypothyroidism.

The journal of the Royal College of Physicians of Edinburgh
2023

A case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review.

Frontiers in immunology
2023

Autoimmune diabetes from pembrolizumab: A case report and review of literature.

World journal of clinical oncology
2024

Hypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2024

A prospective study on endocrine function in patients with long-COVID symptoms.

Hormones (Athens, Greece)
2024

Familial oral lichen planus: A new risk group for oral cancer?

Oral diseases
2023

A Rare Case of Acute Myocardial Infarction in Pregnancy: Successful Treatment Strategies.

The American journal of case reports
2023

Life-Threatening Cardiac Arrhythmias in a Case of Undetected Myxedema Coma: Importance of Early Detection and Medication Adherence.

The American journal of case reports
2023

Hoffmann's syndrome in the differential work-up of myopathic complaints: a case report.

Journal of medical case reports
2023

Kikuchi Fujimoto Lymphadenitis: A Rare Association With COVID-19 Vaccination.

Cureus
2023

A 20-year study of autoimmune polyendocrine syndrome type II and III in Taiwan.

European thyroid journal
2023

Giant prolactinoma in Asian-Indians: A single-center experience from Western India.

Annales d'endocrinologie
2023

Subacute thyroiditis following COVID-19 vaccination: Case presentation.

Antiviral therapy
2024

The identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome.

Endocrine
2023

Familial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report.

BMC endocrine disorders
2024

Rare immune-related adverse events in a patient with metastatic melanoma: a case report highlighting sarcoidosis-like reactions triggered by immune-checkpoint inhibitors.

Melanoma research
2023

Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure.

BMJ case reports
2023

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Frontiers in endocrinology
2024

Clinical and therapeutic outcomes of pediatric pituitary adenomas: a single pituitary center experience.

Endocrine
2023

An enigma of hypothyroidism and hyponatremia coexistence: a nationwide population-based retrospective study.

BMC public health
2023

A Common Infection in a Highly Atypical Patient: Hematochezia From a Cytomegalovirus Colonic Ulcer in a Young and Healthy Immunocompetent Patient.

Cureus
2023

Exploring Comorbidities in Adolescent and Young Adults with Hypermobile Ehlers-Danlos Syndrome with and without a Surgical History: A Preliminary Investigation.

Children (Basel, Switzerland)
2024

Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.

The Journal of clinical endocrinology and metabolism
2023

"Familial Multiple Coagulation Factor Deficiencies of FXI and FXII in an Asymptomatic Saudi Woman".

Journal of investigative medicine high impact case reports
2023

Severe hypoxemia after extubation secondary to myxedema coma: a case report.

The Journal of international medical research
2024

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.

The Journal of clinical endocrinology and metabolism
2023

Prevalence of morbidities across the lifespan for adults with spinal muscular atrophy: a retrospective cohort study.

Orphanet journal of rare diseases
2023

Ogilvie's Syndrome in a 66-Year-Old Man after Diaphragmatic Plication Surgery: A Rare Postoperative Complication.

The American journal of case reports
2023

Management of foetal hyperthyroidism in a mother with autoimmune hypothyroidism: A case report.

Endocrinologia, diabetes y nutricion

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ainda não achamos doenças com sintomas parecidos o suficiente.

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

O termo representa uma categoria catalogada sob o código ORPHA:177101 para disfunções na tireoide em adultos. Nos registros internacionais atuais, essa designação é marcada como obsoleta.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

3 fontes citadas no texto · 10 publicações do grafo RarasNet (PubMed) · 3 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. MONDO
    purl.obolibrary.org
  2. Real or Not Real? An Elevated TSH.
    Journal of investigative medicine high impact case reports2026PMID 41854012
  3. Q55785709
    Wikidata

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.

Citar este verbete

Raras. (2026). Hipotireoidismo do adulto raro. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hipotireoidismo-do-adulto-raro

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Compêndio · Raras BR

Hipotireoidismo do adulto raro

ORPHA:177101 · MONDO:0015777
MedGen
UMLS
C5680511
Repurposing
1 candidato
liothyronine — thyroid hormone stimulant
Wikidata

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Dado público estruturado
fonte: Wikidata
Rara