Introdução
O que você precisa saber de cara
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]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
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.
OBSOLETO. Um hipotireoidismo que ocorre em um adulto.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
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 — Hipotireoidismo do adulto raro
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Pitolisant-associated mania - a case report.
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.
Real or Not Real? An Elevated TSH.
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.
Splenectomy vs. splenopexy and analysis of wandering spleen management across age groups: a case report.
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.
Nivolumab for unresectable cutaneous epithelial malignancies: an open-label, single-arm, multi-centre, phase II trial (NMSC-PD1).
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.
Autoimmune hyperthyroidism following haematopoietic stem cell transplant for multiple sclerosis in an adult female: a case report and literature review.
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
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Adult-Onset Leukodystrophies Mimicking Multiple Sclerosis.
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Indian journal of pharmacologyWoodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters.
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South Dakota medicine : the journal of the South Dakota State Medical AssociationSystematic review of thyroid function in NKX2-1-related disorders: Screening and diagnosis.
PloS onePituitary-adrenal axis dysfunction induced by tislelizumab immunotherapy for non-small cell lung cancer: a case series and literature review.
BMC pulmonary medicineIncreased incidence of myxedema coma during the COVID-19 pandemic and in the post pandemic era: a single-center case series.
Internal and emergency medicineInsights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders.
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Journal of the peripheral nervous system : JPNSSubclinical hypothyroidism predicts outcome in heart failure: insights from the T.O.S.CA. registry.
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Scientific reportsPost-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 journalCerebellar syndrome as the presenting feature of Hashimoto encephalopathy.
BMJ case reportsCase report: Is severe toxicity the price to pay for high sensitivity to checkpoint inhibitors immunotherapy in desmoplastic melanoma?
Frontiers in immunologyHypopituitarism with secondary adrenocortical insufficiency and arginine vasopressin deficiency due to hypophysitis after COVID-19 vaccination: a case report.
BMC endocrine disordersPembrolizumab-induced type 1 diabetes.
Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy PractitionersMolecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants.
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VaccineChallenges 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 immunologyThyroid Dysfunction Risk After Iodinated Contrast Media Administration: A Prospective Longitudinal Cohort Analysis.
The Journal of clinical endocrinology and metabolismSymptomatic Pericardial Effusion Associated With Graves' Disease in a Pediatric Patient.
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Clinical endocrinologyChronic Adult-Onset Still's Disease With Positive Antinuclear Antibodies: Navigating Diagnostic Dilemmas and Clinical Implications.
CureusImmune Checkpoint Inhibitor Use During Pregnancy and Outcomes in Pregnant Individuals and Newborns.
JAMA network openDilated cardiomyopathy due to hypocalcaemia: a case report.
Journal of medical case reportsImpact of genotype on multi-organ iron and complications in patients with non-transfusion-dependent β-thalassemia intermedia.
Annals of hematologyA 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 reportsEndocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.
Frontiers in endocrinologySARS-CoV-2 Infection in Pemphigus Vulgaris Two Weeks after Rituximab Therapy with Total Recovery: A Case Report.
Acta dermatovenerologica Croatica : ADCChallenges 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)Primary thyroid lymphoma: a case series.
Journal of medical case reportsDiagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.
Journal of pediatric endocrinology & metabolism : JPEMSuperior Orbital Fissure Syndrome in the Setting of Relapsing Polychondritis with Concurrent Sjogren's Syndrome: A Case Report.
Ocular immunology and inflammationCase report: Twice-daily tolvaptan dosing regimen in a challenging case of hyponatremia due to SIAD.
Frontiers in endocrinologyIntracranial lipoma: an incidental finding and a rare cause of secondary headache.
The International journal of neuroscienceHypophysitis after COVID-19 vaccination in a patient with Rathke's cleft cyst: A case report.
Human vaccines & immunotherapeutics[Autoimmune polyendocrine syndrome in adults. Focus on rheumatological aspects of the problem: A review].
Terapevticheskii arkhivIdiopathic isolated adrenocorticotropic hormone deficiency: a systematic review of a heterogeneous and underreported disease.
PituitaryA Case of Polymyositis Associated with Cytomegalovirus Infection in a Patient with Hashimoto's Thyroiditis.
Life (Basel, Switzerland)Waldenström's Macroglobulinemia and Cryoglobulinemic Glomerulonephritis: An Unusual Case of Monoclonal Gammopathy of Renal Significance.
Medical sciences (Basel, Switzerland)Transition from Hashimoto thyroiditis to Graves's Disease: an unpredictable change?
EndocrineHoffmann's syndrome in subclinical hypothyroidism.
The journal of the Royal College of Physicians of EdinburghA case report of anti-GAD65 antibody-positive autoimmune encephalitis in children associated with autoimmune polyendocrine syndrome type-II and literature review.
Frontiers in immunologyAutoimmune diabetes from pembrolizumab: A case report and review of literature.
World journal of clinical oncologyHypothalamic-pituitary dysfunction in Sturge-Weber syndrome: case report and review of the literature.
Journal of pediatric endocrinology & metabolism : JPEMA prospective study on endocrine function in patients with long-COVID symptoms.
Hormones (Athens, Greece)Familial oral lichen planus: A new risk group for oral cancer?
Oral diseasesA Rare Case of Acute Myocardial Infarction in Pregnancy: Successful Treatment Strategies.
The American journal of case reportsLife-Threatening Cardiac Arrhythmias in a Case of Undetected Myxedema Coma: Importance of Early Detection and Medication Adherence.
The American journal of case reportsHoffmann's syndrome in the differential work-up of myopathic complaints: a case report.
Journal of medical case reportsKikuchi Fujimoto Lymphadenitis: A Rare Association With COVID-19 Vaccination.
CureusA 20-year study of autoimmune polyendocrine syndrome type II and III in Taiwan.
European thyroid journalGiant prolactinoma in Asian-Indians: A single-center experience from Western India.
Annales d'endocrinologieSubacute thyroiditis following COVID-19 vaccination: Case presentation.
Antiviral therapyThe identification of a novel mutation (p.I223fs) in WRN associated with Werner syndrome.
EndocrineFamilial dysalbuminemic hyperthyroxinemia combined with Graves' disease: a rare case report.
BMC endocrine disordersRare immune-related adverse events in a patient with metastatic melanoma: a case report highlighting sarcoidosis-like reactions triggered by immune-checkpoint inhibitors.
Melanoma researchHoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure.
BMJ case reportsAnalysis of genetic variability in Turner syndrome linked to long-term clinical features.
Frontiers in endocrinologyClinical and therapeutic outcomes of pediatric pituitary adenomas: a single pituitary center experience.
EndocrineAn enigma of hypothyroidism and hyponatremia coexistence: a nationwide population-based retrospective study.
BMC public healthA Common Infection in a Highly Atypical Patient: Hematochezia From a Cytomegalovirus Colonic Ulcer in a Young and Healthy Immunocompetent Patient.
CureusExploring Comorbidities in Adolescent and Young Adults with Hypermobile Ehlers-Danlos Syndrome with and without a Surgical History: A Preliminary Investigation.
Children (Basel, Switzerland)Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.
The Journal of clinical endocrinology and metabolism"Familial Multiple Coagulation Factor Deficiencies of FXI and FXII in an Asymptomatic Saudi Woman".
Journal of investigative medicine high impact case reportsSevere hypoxemia after extubation secondary to myxedema coma: a case report.
The Journal of international medical researchClinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA.
The Journal of clinical endocrinology and metabolismPrevalence of morbidities across the lifespan for adults with spinal muscular atrophy: a retrospective cohort study.
Orphanet journal of rare diseasesOgilvie's Syndrome in a 66-Year-Old Man after Diaphragmatic Plication Surgery: A Rare Postoperative Complication.
The American journal of case reportsManagement of foetal hyperthyroidism in a mother with autoimmune hypothyroidism: A case report.
Endocrinologia, diabetes y nutricionAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Hipotireoidismo do adulto raro.
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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
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.
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
📋 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
- Reposicionamento
- fonte: Drug Repurposing Hub