Raras
Buscar doenças, sintomas, genes...
Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise
ORPHA:226307CID-10 · E03.1CID-11 · 5A00.01DOENÇA RARA

O hipotireoidismo causado por problemas genéticos que afetam o desenvolvimento ou o funcionamento da hipófise é um tipo de hipotireoidismo congênito central. É uma condição permanente, presente desde o nascimento, em que a pessoa tem baixos níveis de hormônios da tireoide devido a falhas no desenvolvimento ou no funcionamento da glândula hipófise.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

O hipotireoidismo causado por problemas genéticos que afetam o desenvolvimento ou o funcionamento da hipófise é um tipo de hipotireoidismo congênito central. É uma condição permanente, presente desde o nascimento, em que a pessoa tem baixos níveis de hormônios da tireoide devido a falhas no desenvolvimento ou no funcionamento da glândula hipófise.

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Infancy
🏥
SUS: Cobertura mínimaScore: 20%
CID-10: E03.1
🇧🇷Dados SUS / DATASUS2024
420
internações/ano
R$ 1.890
custo médio/internação
ESTADOS COM MAIS INTERNAÇÕES
SPMGRJBARS
PROCEDIMENTOS SIGTAP (1)
0202080013
Teste do pezinho (triagem neonatal)newborn_screening
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

📏
Crescimento
13 sintomas
🦴
Ossos e articulações
5 sintomas
😀
Face
5 sintomas
🧠
Neurológico
3 sintomas
🫃
Digestivo
2 sintomas
🛡️
Imunológico
1 sintomas

+ 19 sintomas em outras categorias

Características mais comuns

90%prev.
Nível de hormônio tireoestimulante diminuído
Muito frequente (99-80%)
90%prev.
Captação reduzida de iodo radioativo
Muito frequente (99-80%)
90%prev.
Hipotireoidismo hipofisário
Muito frequente (99-80%)
55%prev.
Concentração reduzida de prolactina circulante
Frequente (79-30%)
55%prev.
Pan-hipopituitarismo
Frequente (79-30%)
55%prev.
Dificuldades alimentares na infância
Frequente (79-30%)
51sintomas
Muito frequente (3)
Frequente (23)
Ocasional (23)
Muito raro (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 51 características clínicas mais associadas, ordenadas por frequência.

Nível de hormônio tireoestimulante diminuídoDecreased thyroid-stimulating hormone level
Muito frequente (99-80%)90%
Captação reduzida de iodo radioativoReduced radioactive iodine uptake
Muito frequente (99-80%)90%
Hipotireoidismo hipofisárioPituitary hypothyroidism
Muito frequente (99-80%)90%
Concentração reduzida de prolactina circulanteReduced circulating prolactin concentration
Frequente (79-30%)55%
Pan-hipopituitarismoPanhypopituitarism
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2028
Últimos 10 anos200publicações
Pico2026199 papers
Linha do tempo
2028Hoje · 2026📈 2026Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.

LHX3LIM/homeobox protein Lhx3Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Transcription factor. Recognizes and binds to the consensus sequence motif 5'-AATTAATTA-3' in the regulatory elements of target genes, such as glycoprotein hormones alpha chain CGA and visual system homeobox CHX10, positively modulating transcription; transcription can be co-activated by LDB2. Synergistically enhances transcription from the prolactin promoter in cooperation with POU1F1/Pit-1 (By similarity). Required for the establishment of the specialized cells of the pituitary gland and the n

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Regulation of expression of SLITs and ROBOs
MECANISMO DE DOENÇA

Pituitary hormone deficiency, combined, 3

Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD3 is characterized by a complete deficit in all but one (adrenocorticotropin) anterior pituitary hormone and a rigid cervical spine leading to limited head rotation.

EXPRESSÃO TECIDUAL(Tecido-específico)
Pituitária
89.7 TPM
Testículo
0.4 TPM
Skin Not Sun Exposed Suprapubic
0.1 TPM
Cerebelo
0.1 TPM
Cérebro - Hemisfério cerebelar
0.0 TPM
OUTRAS DOENÇAS (2)
non-acquired combined pituitary hormone deficiency with spine abnormalitieshypothyroidism due to deficient transcription factors involved in pituitary development or function
HGNC:6595UniProt:Q9UBR4
POU1F1Pituitary-specific positive transcription factor 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Transcription factor involved in the specification of the lactotrope, somatotrope, and thyrotrope phenotypes in the developing anterior pituitary. Specifically binds to the consensus sequence 5'-TAAAT-3'. Activates growth hormone and prolactin genes (PubMed:22010633, PubMed:26612202)

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Pituitary hormone deficiency, combined, 1

Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe intellectual disability along with short stature.

EXPRESSÃO TECIDUAL(Tecido-específico)
Pituitária
111.3 TPM
Cérebro - Hemisfério cerebelar
0.3 TPM
Cerebelo
0.2 TPM
Cervix Ectocervix
0.1 TPM
Fallopian Tube
0.1 TPM
OUTRAS DOENÇAS (4)
pituitary hormone deficiency, combined, 1hypothyroidism due to deficient transcription factors involved in pituitary development or functionisolated growth hormone deficiency type IIcombined pituitary hormone deficiencies, genetic form
HGNC:9210UniProt:P28069
PROP1Homeobox protein prophet of Pit-1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Pituitary hormone deficiency, combined, 2

Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone.

EXPRESSÃO TECIDUAL(Baixa expressão)
Pituitária
2.0 TPM
Cerebelo
0.3 TPM
Cérebro - Hemisfério cerebelar
0.3 TPM
Testículo
0.1 TPM
Próstata
0.0 TPM
OUTRAS DOENÇAS (4)
pituitary hormone deficiency, combined, 2combined pituitary hormone deficiencies, genetic formhypothyroidism due to deficient transcription factors involved in pituitary development or functionpanhypopituitarism
HGNC:9455UniProt:O75360
LHX4LIM/homeobox protein Lhx4Disease-causing germline mutation(s) inModerado
FUNÇÃO

May play a critical role in the development of respiratory control mechanisms and in the normal growth and maturation of the lung. Binds preferentially to methylated DNA (PubMed:28473536)

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (1)
Regulation of expression of SLITs and ROBOs
MECANISMO DE DOENÇA

Pituitary hormone deficiency, combined, 4

Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
5.2 TPM
Cerebelo
5.0 TPM
Cérebro - Hemisfério cerebelar
3.9 TPM
Pituitária
3.4 TPM
Tireoide
3.2 TPM
OUTRAS DOENÇAS (4)
short stature-pituitary and cerebellar defects-small sella turcica syndromehypothyroidism due to deficient transcription factors involved in pituitary development or functionpituitary stalk interruption syndromecombined pituitary hormone deficiencies, genetic form
HGNC:21734UniProt:Q969G2
HESX1Homeobox expressed in ES cells 1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Required for the normal development of the forebrain, eyes and other anterior structures such as the olfactory placodes and pituitary gland. Possible transcriptional repressor. Binds to the palindromic PIII sequence, 5'-AGCTTGAGTCTAATTGAATTAACTGTAC-3'. HESX1 and PROP1 bind as heterodimers on this palindromic site, and, in vitro, HESX1 can antagonize PROP1 activation

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

Septooptic dysplasia

A clinically heterogeneous disorder defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia with panhypopopituitarism, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
9.7 TPM
Linfócitos
4.2 TPM
Pituitária
2.4 TPM
Nervo tibial
2.3 TPM
Tireoide
2.3 TPM
OUTRAS DOENÇAS (5)
septooptic dysplasiaKallmann syndromehypothyroidism due to deficient transcription factors involved in pituitary development or functionpituitary stalk interruption syndrome
HGNC:4877UniProt:Q9UBX0

Variantes genéticas (ClinVar)

353 variantes patogênicas registradas no ClinVar.

🧬 LHX3: NM_178138.6(LHX3):c.79+1990_79+1992del ()
🧬 LHX3: NM_178138.6(LHX3):c.562G>T (p.Glu188Ter) ()
🧬 LHX3: GRCh38/hg38 9q34.3(chr9:135445565-138172039)x1 ()
🧬 LHX3: GRCh37/hg19 9q34.3(chr9:139020257-139135215)x1 ()
🧬 LHX3: NM_178138.6(LHX3):c.482G>T (p.Arg161Leu) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise

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Selecione um estado ou use sua localização para ver resultados.

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.

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Relationship Between Heart Rate Variability and Sleep Among Girls and Boys With Abdominal Pain-Related Disorders of Gut-Brain Interaction.

Neurogastroenterology and motility2026 Mar

Este estudo mostra que crianças com distúrbios de interação intestino-cérebro relacionados à dor abdominal (DGBI) frequentemente sofrem de problemas de sono, que podem estar ligados ao sistema nervoso autônomo. A atividade desse sistema, medida pela variabilidade da frequência cardíaca (HRV), foi associada a diferentes dificuldades de sono, com distinções entre meninos e meninas. Para pacientes e médicos, isso significa que problemas de sono nessas crianças podem ter uma base fisiológica concreta: em meninas, a atividade parassimpática elevada foi ligada a maior demora para dormir e menor frequência cardíaca a mais ansiedade; em meninos, menor equilíbrio autonômico foi associado a sonolência diurna. Em ambos os sexos, menor HRV esteve ligada a maior respiração desordenada durante o sono, sugerindo que o tratamento das DGBI deve considerar a saúde do sono e a regulação autonômica.

🇧🇷 traduzido
#2

Electride-Induced Electronic Modulation of Ruthenium Catalyst for Highly Efficient Alkaline Hydrogen Evolution.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)2026 Mar 24

Este artigo descreve o desenvolvimento de um novo catalisador robusto de rutênio (Ru) sobre um eletrídeo (Ru/Nd2ScSi2) para a produção altamente eficiente de hidrogênio (Reação de Evolução de Hidrogênio - HER) em ambientes alcalinos. O estudo demonstra que o Ru carregado negativamente na superfície do eletrídeo é crucial para otimizar a atividade catalítica. É importante notar que, apesar do título fornecido na solicitação ("Hypothyroidism due to deficient transcription factors involved in pituitary development or function"), o conteúdo do resumo trata exclusivamente de pesquisa em química e engenharia de materiais para a produção de energia, e não possui relevância direta para pacientes ou médicos em relação a condições médicas como o hipotireoidismo.

🇧🇷 traduzido
#3

The Ovine Brain as a Model for Human Neurodevelopment: Immunohistochemical Profiling of Brain Maturation Markers in Preterm Lambs.

The Journal of comparative neurology2026 Mar

O artigo investigou cordeiros como modelo pré-clínico para o neurodesenvolvimento em nascimentos prematuros, comparando a maturação cerebral de filhotes extremamente prematuros com os nascidos mais próximos do termo. Os resultados mostraram que cordeiros mais velhos possuíam marcadores de desenvolvimento cerebral significativamente mais avançados (como neurônios e mielina), seguindo um padrão similar ao humano. Para pacientes e médicos, isso reforça a crítica importância da duração da gestação para o desenvolvimento neurológico e valida o uso do modelo ovino para futuras pesquisas e intervenções que visem melhorar os resultados cerebrais em bebês prematuros.

🇧🇷 traduzido
#4

COVID-19 Vaccination Strategy and Evidence in Korea.

Journal of Korean medical science2026 Mar 23

A Coreia do Sul demonstrou que a vacinação contra a COVID-19 é a medida mais eficaz para reduzir desfechos graves e mortalidade, com estudos locais confirmando a **forte eficácia e segurança aceitável** das vacinas. A estratégia de vacinação é adaptativa: para a temporada 2024-2025, vacinas de mRNA (Pfizer, Moderna) e de proteína recombinante (Novavax) direcionadas à linhagem JN.1 são administradas, principalmente a grupos de alto risco. A partir de outubro de 2025, novas formulações de mRNA adaptadas à variante LP.8.1 serão introduzidas, mostrando uma política de saúde pública em constante atualização e baseada em evidências.

🇧🇷 traduzido
#5

Chinese Readers Process Word Class of Parafoveal Words During Sentence Reading.

Cognitive science2026 Mar

O artigo científico fornecido investiga como leitores de chinês processam a categoria gramatical de palavras na visão periférica (parafovea) durante a leitura. Os resultados demonstram que uma pré-visualização consistente da classe de palavras, mesmo sem relação semântica ou contextual, facilita significativamente o reconhecimento posterior da palavra, destacando a integração rápida e precoce de propriedades sintáticas no cérebro. **É importante notar, para pacientes e médicos, que o título "Hypothyroidism due to deficient transcription factors involved in pituitary development or function" está incorreto para o resumo fornecido.** O texto do artigo que você pediu para resumir, cujo título real é "Chinese Readers Process Word Class of Parafoveal Words During Sentence Reading", trata exclusivamente da área da linguística e não tem relevância médica, não abordando hipotiroidismo ou qualquer condição clínica.

🇧🇷 traduzido

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Cytotechnology
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Safety, Tolerability, and Pharmacokinetics of HBM9378 (SKB378/WIN378), a Fully Human IgG1 Monoclonal Antibody Against TSLP After Single Ascending Doses in Chinese Healthy Subjects.

Drug design, development and therapy
2026

Resveratrol Alleviates Intervertebral Disc Degeneration by Targeting NCOA4-Mediated Ferritinophagy Through Dual Antioxidant and Anti-Inflammatory Effects.

Drug design, development and therapy
2026

Clinical Characteristics and Outcomes of Very Old Critically Ill Patients in a Portuguese ICU: A Retrospective Cohort Study.

Cureus
2026

Late Recurrence of Graves' Hyperthyroidism With Thyroid Eye Disease Approximately Five Decades After Radioiodine Ablation: A Rare Clinical Scenario.

Cureus
2026

Care-Based Collaboration for Regional Sustainability: A Constructivist Grounded Theory Study of Community Nurses and Local Businesses in Japan.

Cureus
2026

Lung Function Impairment and Its Associated Factors in Pulmonary Tuberculosis Patients Upon Treatment Completion in Madurai District, Tamil Nadu: A Cross-Sectional Study.

Cureus
2026

Amniotic Membrane Versus Platelet-Rich Fibrin for the Treatment of Gingival Recession Using the Vestibular Incision Subperiosteal Tunnel Access Technique: A Randomized Controlled Clinical Trial.

Cureus
2026

Effect of Lee Silverman Voice Treatment-BIG Intervention Versus Balance Training via Tele-rehabilitation on Balance and Functional Mobility Among Community-Dwelling Elderly: A Comparative Study.

Cureus
2026

Creatine: Clinical Implications for Orthopedic Surgeons.

Cureus
2026

Efficacy of Intra-articular Platelet-Rich Fibrin Injection for Periarthritis of the Shoulder: A Pilot Study.

Cureus
2026

Outcome-Based Self-Directed Learning (OBSDL) in Pharmacology in the Indian Context: A Convergent Mixed-Method Study.

Cureus
2026

Salbutamol Reversal of Methacholine Induced Bronchoconstriction: Vibrating Mesh Nebulizer versus Pressurized Metered Dose Inhaler.

Journal of asthma and allergy
2026

Increased heart rate and blood oxygen extraction are key to the ability of schoolmaster snapper (Lutjanus apodus) to swim maximally at high temperatures.

The Journal of experimental biology
2026

[Contrast-induced acute kidney injury after prostatic artery embolization].

Ugeskrift for laeger
2026

Isolation and profiling of single circulating tumor cells in myeloma: a new workflow for liquid biopsies.

BioTechniques
2026

Leisure Activities Associated With Functional Impairment Risk Among Community-Dwelling Older Adults With Depressive Symptoms.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society
2026

A Combinatorial Strategy for Peripheral Nerve Repair Utilizing 3D-Printed Collagen Nerve Guidance Conduits and Photobiomodulation Therapy: A Pilot Study in a Rat Sciatic Nerve Transection Model.

Photobiomodulation, photomedicine, and laser surgery
2026

A Network Approach to Understanding Early-Life Adversity: Linking Threat, Deprivation, and Unpredictability to Adolescent Developmental Outcomes.

Journal of interpersonal violence
2026

Chinese Readers Process Word Class of Parafoveal Words During Sentence Reading.

Cognitive science
2026

NUPR1 and LCN2: Potential Therapeutic Targets for Colorectal Cancer Via Modulating Cell Viability, Migration, and Ferroptosis-Related Pathways.

Journal of biochemical and molecular toxicology
2026

Geraniol Mitigates Cytarabine-Induced Hepatotoxicity in Mice via PI3K/AKT-Mediated NRF2 Activation.

Journal of biochemical and molecular toxicology
2026

The genetics of multiple sclerosis: an updated perspective.

Current opinion in neurology
2026

Asiatic Acid Ameliorates Indomethacin-Induced Gastric Ulcers in Rats Through Enhancement of TGF-β1.

Journal of biochemical and molecular toxicology
2026

Reimagining Brain Drug Delivery: Mechanistic and Translational Advances in Carbon Nanotube Nanomedicine.

Journal of applied toxicology : JAT
2026

In the right place at the right time: Microsite and sowing season drive post-fire restoration of an endangered conifer.

Ecological applications : a publication of the Ecological Society of America
2026

Disruption of Mitophagy-Related Gene Expression in Gestational Diabetes Mellitus: A Transcriptomic and Machine Learning Approach.

Journal of diabetes research
2026

Leveraging Artificial Intelligence for Substance Use Prevention Among Adolescents: A Systematic Review of Emerging Evidence.

Inquiry : a journal of medical care organization, provision and financing
2026

Hybrid Common Femoral Vein Endophlebectomy and Iliac Vein Stenting Versus Femoro-Femoral Venous Bypass for Management of Chronic Iliofemoral Venous Occlusion.

Journal of endovascular therapy : an official journal of the International Society of Endovascular Specialists
2026

Cognitive Functioning in Vorinostat-Treated Pediatric and Young Adult Patients Over the First 180 Days After Hematopoietic Stem Cell Transplant.

Pediatric blood &amp; cancer
2026

Executive Function Costs of Fantastical Interference in Narrative Comprehension: A Response to Lillard's (2026) Commentary.

Developmental science
2026

Natural Killer Cell Assays: Clinical Applications and Future Directions.

Annals of laboratory medicine
2026

Co-invasion of multiple invasive ants exacerbates the impacts on native ant communities.

Insect science
2026

sfr-miR-10465-5p and sfr-miR-10476-5p modulate chlorantraniliprole susceptibility through CYP450 gene regulation in Spodoptera frugiperda.

Insect science
2026

PM2.5 Exacerbates Viral Myocarditis by Disrupting Lysophosphatidylcholine Metabolism and Inhibiting the GPR4/ERK/PPARγ Pathway.

Journal of applied toxicology : JAT
2026

Heart Rate Variability in Anorexia Nervosa: A Systematic Review and Meta-Analysis on the Moderating Role of Measurement Duration and Clinical Stage.

European eating disorders review : the journal of the Eating Disorders Association
2026

Preferences for Processing Facial Information at Different Orientations in Individuals With Developmental Prosopagnosia.

Developmental psychobiology
2026

Discovery of ferulic acid carbamate derivatives as dual-targeting agents of BuChE and Nrf2 for Alzheimer's disease.

Journal of enzyme inhibition and medicinal chemistry
2026

Phage toxin variants are linked to protection specificity in a defensive symbiont.

Molecular biology and evolution
2026

Methotrexate Therapy in Juvenile Idiopathic Arthritis: No Clinically Relevant Pulmonary Impairment but Frequent Transient Liver Enzyme Elevations in a Longitudinal Single-Center Pediatric Cohort of 274 Children Over 30 Years.

ACR open rheumatology
2026

Cardiac Safety of Chronic Inhibition of the Myostatin-Activin Pathway with Bimagrumab in Healthy Older Adults.

The Journal of clinical endocrinology and metabolism
2026

Blunted response of caudal locus coeruleus to arousing stimuli in Parkinson's disease.

Brain : a journal of neurology
2026

The Chain Mediating Effect of Instrumental Activities of Daily Living and Regular Exercise in the Relationship Between Physical Performance and Cognitive Function Among Older Adults Comorbid With Diabetes Mellitus and Hypertension.

Brain and behavior
2026

Personalized infliximab rescue therapy to maximize colectomy-free survival in patients with acute severe ulcerative colitis.

Journal of Crohn's &amp; colitis
2026

Epstein-Barr Virus Transformed B Cells From Systemic Lupus Erythematosus and Multiple Sclerosis Patients Differ in EBV Lytic and Latency Marker Expression.

Immunity, inflammation and disease
2026

Adiponectin Inhibits AURKA to Suppress Inflammation in TNF-α-induced Keratinocytes and Attenuates Psoriatic Dermatitis in Mice.

Immunity, inflammation and disease
2026

Correlation Between SII and Lymphocyte Subsets in Gastric Cancer Patients and Its Prognostic Importance.

Immunity, inflammation and disease
2026

A whole-genome assembly of St. Augustinegrass and visualizing diversity within the species.

The plant genome
2026

Relationship Between Gut Microbiota and Cancer Neuro-Immunity.

Microbial biotechnology
2026

G-ALPS: An index for evaluating cognitive decline and aging using diffusion tensor imaging.

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

SOX5 Overexpression in Schwann Cell Combined With Chitosan-Based Conduit Promotes Peripheral Nerve Regeneration.

Journal of the peripheral nervous system : JPNS
2026

Fructooligosaccharide Upregulates Colonic Vitamin D Receptors and Modulates Inflammatory Status in High-Fat Diet-Induced Obese Male C57BL/6 Mice.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
2026

Effects of Dietary Peptides From Essence of Chicken on Neuroinflammation and Their Synergism in Neuroprotection.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
2026

The Protective Effect of Vitamin C Targeting Oxidative Stress on Renal Function in Patients with Septic Acute Kidney Injury: A Prospective, Randomized Controlled, Pilot Study.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
2026

Potential Effects of Chia Seed (Salvia hispanica L.) on Adipose Tissue Gene Expression and Obesity Indicators in Cafeteria Diet-Fed Rats.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
2026

Spirulina Supplementation Can Reduce Serum Levels of C-Reactive Protein: A Systematic Review and Meta-Analysis on Randomized Clinical Trials.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
2026

Short-Term Turkish Coffee Consumption Elevates Cardiovascular Risk Markers, Decreases Leptin Levels, and Impairs Sleep Quality in Healthy Young Women: A Pilot Randomized Controlled Trial.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
2026

Impact of High Doses of Vitamin D on Specific Metabolic Parameters in Type 2 Diabetes Patients: A Prospective Biomedical Study.

International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition
2026

Orbital Optimization and Neural-Network-Assisted Configuration Interaction Calculations of Rydberg States.

Journal of chemical theory and computation
2026

[Exploration and practice of integrating "dual carbon" concept into the teaching of Microbiology].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Construction of a membrane-anchored bifunctional growth factor mimetic and its application in organoid culture].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Expression of recombinant fibronectin FNIII8-10 in Pichia pastoris and fermentation process optimization].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Expression of human nerve growth factor in tobacco BY-2 cells].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Construction and verification of a genome-scale metabolic model for Bifidobacterium animalis subsp. lactis BLa80].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Synthesis of glycine betaine affects salt tolerance of Bacillus paralicheniformis].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Characteristics and antimicrobial activities of selenium nanoparticles biosynthesized by selenium-tolerant yeast].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Enhancement of monensin production by metabolic engineering of the redox cofactor supply in Streptomyces cinnamonensis].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Multi-strategy modification for constructing an engineered strain with efficient production of O-acetyl- l-homoserine].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Metabolic engineering of Streptomyces for production of hyaluronic acid].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Efficient conversion of cytidine to synthesize cytidine 5{L-End} '-monophosphate based on the ATP regeneration system].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Efficient biosynthesis of spermidine via whole-cell catalysis with a multi-enzyme cascade system].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Purification, characterization and substrate selectivity analysis of transaminase from marine actinomycetes].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[A rational loop region engineering strategy for enhancing the thermostability of chondroitinase ABC].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[A single-point mutation enhances phytase thermostability through remodeling distant salt bridges].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Screening, characterization, and application of a novel pectinase in ramie degumming].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Directed evolution of cellobiose 2-epimerase and its application in the synthesis of lactulose].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Fusion expression and immobilization of an imine reductase and a formate dehydrogenase].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Mechanisms and applications of liquid-liquid phase separation in enzyme activity regulation].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Advances in microbial synthesis of chemicals using with acetate as a substrate].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Optimization of microbial production process of γ-polyglutamic acid and research progress in its application in agriculture].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Current status and future perspectives of strategies for activating silent secondary metabolite biosynthetic gene clusters in marine actinomycetes].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Recent advances in the application value and biosynthesis of chiral reticuline].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Spo0A-mediated molecular regulatory mechanisms of sporulation and their applications].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

[Biomanufacturing driven by engineered organisms (2026)].

Sheng wu gong cheng xue bao = Chinese journal of biotechnology
2026

Tailoring Phosphonic Acid-Functionalized Nanofibers via Facile Fabrication for Enhanced Yb(III)/Lu(III) Selective Separation.

Langmuir : the ACS journal of surfaces and colloids
2026

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience.

Molecular genetics &amp; genomic medicine
2026

Ophiopogonin D Alleviates Nonalcoholic Steatohepatitis via Ferroptosis Through AKT1/STAT3/HIF-1α Axis.

Analytical cellular pathology (Amsterdam)
2026

Diagnostic Value of Neutrophil CD64 in Differentiating Scrub Typhus From Febrile Diseases.

Immunity, inflammation and disease
2026

A chromosome-scale genome of Sarracenia purpurea reveals a significant expansion of plant defense and stress response gene families following paleopolyploidization.

The plant genome
2026

Old Blood, Young Bones: Identification of Middle-Aged Myeloid Cells That Limit Cortical Bone Loss.

Journal of cellular and molecular medicine
2026

Waterborne transmission largely contributes to the epidemiology of a plankton parasite.

Ecology
2026

Vestibular functioning in people with Parkinson's disease.

International journal of audiology
2026

Catalytic Enantioselective Decarboxylative Cross-Coupling of β-Ketoacids With gem-Difluoroallenes Enabled by Fluorine-Induced Allylrhodium Isomerization.

Angewandte Chemie (International ed. in English)
2026

Contributions of Gray Matter Microstructure to Differences in Fluid Cognition and Episodic Memory Across the Healthy Adult Lifespan.

Human brain mapping
2026

Advances in Research on Childhood-Obesity Associated With Gestational Diabetes Mellitus.

Journal of diabetes
2026

Origin of Electrochemical Activation Leading to Enhanced Cycling Stability of Li- and Mn-Rich Cathodes.

Angewandte Chemie (International ed. in English)
2026

Review of the Effects of Anesthetic Techniques and Medications on the Immune Response During the Perioperative Period.

Medical science monitor : international medical journal of experimental and clinical research
2026

Unravelling the Intrinsic Reactivity and Colloidal Instability in Tin-Based Halide Perovskite Precursor Solutions.

Angewandte Chemie (International ed. in English)
2026

Manganese-Catalyzed Direct Transamination of Aliphatic Alcohols to Primary Amines.

Angewandte Chemie (International ed. in English)
2026

Matrimid-Derived Asymmetric Carbon Molecular Sieve Hollow Fibers With Engineered Ultramicropores for Precise Helium Separation.

Angewandte Chemie (International ed. in English)
2026

Acetal[6]Arenes: Rigid Chirality-on-Annulus Macrocycles Promoting Charge-Transfer Co-Assembly With Exceptional (Chiro)Optical Properties.

Angewandte Chemie (International ed. in English)
2026

The Impact of the Relevant Factors as High-Complexity Tumors in Robot-Assisted Partial Nephrectomy.

International journal of urology : official journal of the Japanese Urological Association
2026

A 31-Year-Old Primigravida Woman Presenting at 18 Weeks of Gestation With Right Ovarian Torsion Successfully Managed With Laparoscopic Adnexectomy.

The American journal of case reports
2026

Multimodal Spatiotemporal Dynamics of Frontomedial Theta and BOLD Signal Reveal Functional Roles in Updating and Suppressing Aversive Memory During Fear Extinction.

Psychophysiology
2026

Assessment of the genotoxicity and pro-oxidative potentials of risperidone in L929 murine fibroblasts.

Journal of toxicology and environmental health. Part A
2026

Corrigendum to: "Novel Clinical Assessment of Visual, Vestibular, Somatosensory, and Autonomic Function: Establishing Test Re-Test Reliability in a Healthy Population".

Perceptual and motor skills
2026

Association Between Lactate and ICU-Acquired Infection in Critically Ill Patients With Sepsis: A Retrospective Study Using the MIMIC-IV Database.

Journal of cellular and molecular medicine
2026

Testing for Network Specificity in Brain-Behavior Associations Using Ordinal Dominance Curves.

Human brain mapping
2026

Quantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression.

European journal of neurology
2026

Muscle MRI and Muscle Ultrasound Applications in MND/ALS: Academic Insights and Clinical Opportunities.

European journal of neurology
2026

Psychophysical stress during a 24 h dive: A case study of an older male diver.

Physiological reports
2026

Distinct brain volume abnormalities in clinical high-risk individuals: pre- and post-antipsychotic treatment.

Psychological medicine
2026

The AcLFYL1-AcCSE module enhances kiwifruit resistance to Pseudomonas syringae pv. actinidiae by regulating cell density and lignin biosynthesis.

Journal of integrative plant biology
2026

Are Fear Learning Processes Altered in Obsessive-Compulsive Disorder, Social Anxiety, and Specific Phobia? Insights From the Late Positive Potential, Fear-Potentiated Startle, and Ratings.

Psychophysiology
2026

Functional characterization of AsOBP21f, an odorant-binding protein involved in human odor detection in the malaria vector Anopheles sinensis.

Parasites &amp; vectors
2026

Assessing diagnostic accuracy of circulating microRNAs as biomarkers for ovarian cancer: a systematic review and meta-analysis.

Journal of ovarian research
2026

RepA Enhances Plant Resistance to Citrus Chlorotic Dwarf-Associated Virus by Transcriptionally Activating ClAOS.

Molecular plant pathology
2026

The impact of socioeconomic status and lifestyle on cognitive aging and brain health: results from the LIFE-Adult-Study.

Alzheimer's research &amp; therapy
2026

Evaluation of serum amyloid A as a biomarker for sepsis diagnosis compared with C-reactive protein, procalcitonin, and presepsin.

Laboratory medicine
2026

Regulation of oncogenic C-terminal truncated p53β protein isoform expression by SRSF3-UPF1 splicing and surveillance axis.

Cell &amp; bioscience
2026

Transcutaneous electrical nerve stimulation (TENS) for ischemia-reperfusion injury and secondary prevention post-PCI in STEMI: study protocol for a randomized controlled trial.

Trials
2026

The cellular landscape of i-motifs: genomic insights, methodological challenges, and the road ahead.

Genome biology
2026

Imaging biomarkers of post-COVID dyspnea: insights from machine learning CT patterns and parametric response mapping.

Respiratory research
2026

Avian diversity and ethnoornithology in Pawukon - a 19th-Century Javanese manuscript : informing contemporary conservation of vulnerable species.

Journal of ethnobiology and ethnomedicine
2026

Robust human genetic evidence supporting causal effects of FGF21 on reducing alcohol consuming behaviours.

BMC medicine
2026

CtBP1 sustains activity-dependent muscle properties and dampens synaptic, contractile and metabolic changes triggered by denervation.

Skeletal muscle
2026

A cross-sectional study on factors influencing adolescent depression in the civil-conflict areas of Thailand.

BMC public health
2026

Effect of multicomponent exercise intervention on older adults with mild cognitive impairment based on HAPA-TPB theory (MIND-STEP): trial design and baseline data for a randomized controlled trial.

Trials
2026

Metabolic rewiring through succinate-GPR91 signaling: a fresh perspective on HFpEF energetics.

Cardiovascular diabetology
2026

Oral colon targeted curcumin-based nanocomposite inulin hydrogel for alleviating intestinal inflammation and dysbiosis.

Journal of nanobiotechnology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise.

É de uma associação que acompanha esta doença? Fale com a gente →

Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise

Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.

Tire suas dúvidas

Perguntas, dicas e experiências compartilhadas aqui na página

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. Relationship Between Heart Rate Variability and Sleep Among Girls and Boys With Abdominal Pain-Related Disorders of Gut-Brain Interaction.
    Neurogastroenterology and motility· 2026· PMID 41873558mais citado
  2. Electride-Induced Electronic Modulation of Ruthenium Catalyst for Highly Efficient Alkaline Hydrogen Evolution.
    Advanced science (Weinheim, Baden-Wurttemberg, Germany)· 2026· PMID 41873498mais citado
  3. The Ovine Brain as a Model for Human Neurodevelopment: Immunohistochemical Profiling of Brain Maturation Markers in Preterm Lambs.
    The Journal of comparative neurology· 2026· PMID 41873450mais citado
  4. COVID-19 Vaccination Strategy and Evidence in Korea.
    Journal of Korean medical science· 2026· PMID 41873448mais citado
  5. Chinese Readers Process Word Class of Parafoveal Words During Sentence Reading.
    Cognitive science· 2026· PMID 41873222mais citado
  6. Membrane Molecular Species Remodeling as a Signature of ω-3 Fatty Acid Action in Cultured Neural Cells.
    ASN Neuro· 2026· PMID 41865307recente
  7. ICD-11 PTSD and Complex PTSD Among Internally Displaced Civilian Outpatients in Ukraine During Wartime.
    Int J Soc Psychiatry· 2026· PMID 41865301recente
  8. Pulmonary Function in Pediatric Inflammatory Bowel Disease: A Systematic Review and Meta-Analysis.
    Pediatr Pulmonol· 2026· PMID 41865300recente
  9. Beyond the Pulmonary Functions: Altered Cognitive-Motor Performance and Motor Imagery in Children With Bronchiectasis.
    Pediatr Pulmonol· 2026· PMID 41865298recente
  10. Livestock grazing boosts plant diversity in the Greater Serengeti-Mara Ecosystem.
    Ecol Appl· 2026· PMID 41865296recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:226307(Orphanet)
  2. MONDO:0016411(MONDO)
  3. GARD:20562(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Q55786206(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.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise
Compêndio · Raras BR

Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise

ORPHA:226307 · MONDO:0016411
🇧🇷 Brasil SUS
Internações
420/ano
Prevalência BR
1:3500
Custo SUS
R$ 1.890/internação
Dados
DATASUS 2024
Geral
Prevalência
Unknown
Herança
Autosomal dominant, Autosomal recessive
CID-10
E03.1 · Hipotireoidismo congênito sem bócio
CID-11
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4273672
Repurposing
1 candidato
liothyroninethyroid hormone stimulant
Wikidata
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