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.
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
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 19 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 51 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
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
Nucleus
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.
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)
Nucleus
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.
Possibly involved in the ontogenesis of pituitary gonadotropes, as well as somatotropes, lactotropes and caudomedial thyrotropes
Nucleus
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.
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)
Nucleus
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.
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
Nucleus
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.
Variantes genéticas (ClinVar)
353 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Hipotireoidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise
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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Sheng wu gong cheng xue bao = Chinese journal of biotechnology[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[Metabolic engineering of Streptomyces for production of hyaluronic acid].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[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[Efficient biosynthesis of spermidine via whole-cell catalysis with a multi-enzyme cascade system].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Purification, characterization and substrate selectivity analysis of transaminase from marine actinomycetes].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[A rational loop region engineering strategy for enhancing the thermostability of chondroitinase ABC].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[A single-point mutation enhances phytase thermostability through remodeling distant salt bridges].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Screening, characterization, and application of a novel pectinase in ramie degumming].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Directed evolution of cellobiose 2-epimerase and its application in the synthesis of lactulose].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Fusion expression and immobilization of an imine reductase and a formate dehydrogenase].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Mechanisms and applications of liquid-liquid phase separation in enzyme activity regulation].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Advances in microbial synthesis of chemicals using with acetate as a substrate].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[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[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[Recent advances in the application value and biosynthesis of chiral reticuline].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Spo0A-mediated molecular regulatory mechanisms of sporulation and their applications].
Sheng wu gong cheng xue bao = Chinese journal of biotechnology[Biomanufacturing driven by engineered organisms (2026)].
Sheng wu gong cheng xue bao = Chinese journal of biotechnologyTailoring Phosphonic Acid-Functionalized Nanofibers via Facile Fabrication for Enhanced Yb(III)/Lu(III) Selective Separation.
Langmuir : the ACS journal of surfaces and colloidsClinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience.
Molecular genetics & genomic medicineOphiopogonin D Alleviates Nonalcoholic Steatohepatitis via Ferroptosis Through AKT1/STAT3/HIF-1α Axis.
Analytical cellular pathology (Amsterdam)Diagnostic Value of Neutrophil CD64 in Differentiating Scrub Typhus From Febrile Diseases.
Immunity, inflammation and diseaseA chromosome-scale genome of Sarracenia purpurea reveals a significant expansion of plant defense and stress response gene families following paleopolyploidization.
The plant genomeOld Blood, Young Bones: Identification of Middle-Aged Myeloid Cells That Limit Cortical Bone Loss.
Journal of cellular and molecular medicineWaterborne transmission largely contributes to the epidemiology of a plankton parasite.
EcologyVestibular functioning in people with Parkinson's disease.
International journal of audiologyCatalytic Enantioselective Decarboxylative Cross-Coupling of β-Ketoacids With gem-Difluoroallenes Enabled by Fluorine-Induced Allylrhodium Isomerization.
Angewandte Chemie (International ed. in English)Contributions of Gray Matter Microstructure to Differences in Fluid Cognition and Episodic Memory Across the Healthy Adult Lifespan.
Human brain mappingAdvances in Research on Childhood-Obesity Associated With Gestational Diabetes Mellitus.
Journal of diabetesOrigin of Electrochemical Activation Leading to Enhanced Cycling Stability of Li- and Mn-Rich Cathodes.
Angewandte Chemie (International ed. in English)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 researchUnravelling the Intrinsic Reactivity and Colloidal Instability in Tin-Based Halide Perovskite Precursor Solutions.
Angewandte Chemie (International ed. in English)Manganese-Catalyzed Direct Transamination of Aliphatic Alcohols to Primary Amines.
Angewandte Chemie (International ed. in English)Matrimid-Derived Asymmetric Carbon Molecular Sieve Hollow Fibers With Engineered Ultramicropores for Precise Helium Separation.
Angewandte Chemie (International ed. in English)Acetal[6]Arenes: Rigid Chirality-on-Annulus Macrocycles Promoting Charge-Transfer Co-Assembly With Exceptional (Chiro)Optical Properties.
Angewandte Chemie (International ed. in English)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 AssociationA 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 reportsMultimodal Spatiotemporal Dynamics of Frontomedial Theta and BOLD Signal Reveal Functional Roles in Updating and Suppressing Aversive Memory During Fear Extinction.
PsychophysiologyAssessment of the genotoxicity and pro-oxidative potentials of risperidone in L929 murine fibroblasts.
Journal of toxicology and environmental health. Part ACorrigendum to: "Novel Clinical Assessment of Visual, Vestibular, Somatosensory, and Autonomic Function: Establishing Test Re-Test Reliability in a Healthy Population".
Perceptual and motor skillsAssociation 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 medicineTesting for Network Specificity in Brain-Behavior Associations Using Ordinal Dominance Curves.
Human brain mappingQuantitative Whole-Body Muscle MRI in Adults With Spinal Muscular Atrophy-A Sensitive Tool for Long-Time Evaluation of Disease Progression.
European journal of neurologyMuscle MRI and Muscle Ultrasound Applications in MND/ALS: Academic Insights and Clinical Opportunities.
European journal of neurologyPsychophysical stress during a 24 h dive: A case study of an older male diver.
Physiological reportsDistinct brain volume abnormalities in clinical high-risk individuals: pre- and post-antipsychotic treatment.
Psychological medicineThe AcLFYL1-AcCSE module enhances kiwifruit resistance to Pseudomonas syringae pv. actinidiae by regulating cell density and lignin biosynthesis.
Journal of integrative plant biologyAre Fear Learning Processes Altered in Obsessive-Compulsive Disorder, Social Anxiety, and Specific Phobia? Insights From the Late Positive Potential, Fear-Potentiated Startle, and Ratings.
PsychophysiologyFunctional characterization of AsOBP21f, an odorant-binding protein involved in human odor detection in the malaria vector Anopheles sinensis.
Parasites & vectorsAssessing diagnostic accuracy of circulating microRNAs as biomarkers for ovarian cancer: a systematic review and meta-analysis.
Journal of ovarian researchRepA Enhances Plant Resistance to Citrus Chlorotic Dwarf-Associated Virus by Transcriptionally Activating ClAOS.
Molecular plant pathologyThe impact of socioeconomic status and lifestyle on cognitive aging and brain health: results from the LIFE-Adult-Study.
Alzheimer's research & therapyEvaluation of serum amyloid A as a biomarker for sepsis diagnosis compared with C-reactive protein, procalcitonin, and presepsin.
Laboratory medicineRegulation of oncogenic C-terminal truncated p53β protein isoform expression by SRSF3-UPF1 splicing and surveillance axis.
Cell & bioscienceTranscutaneous electrical nerve stimulation (TENS) for ischemia-reperfusion injury and secondary prevention post-PCI in STEMI: study protocol for a randomized controlled trial.
TrialsThe cellular landscape of i-motifs: genomic insights, methodological challenges, and the road ahead.
Genome biologyImaging biomarkers of post-COVID dyspnea: insights from machine learning CT patterns and parametric response mapping.
Respiratory researchAvian diversity and ethnoornithology in Pawukon - a 19th-Century Javanese manuscript : informing contemporary conservation of vulnerable species.
Journal of ethnobiology and ethnomedicineRobust human genetic evidence supporting causal effects of FGF21 on reducing alcohol consuming behaviours.
BMC medicineCtBP1 sustains activity-dependent muscle properties and dampens synaptic, contractile and metabolic changes triggered by denervation.
Skeletal muscleA cross-sectional study on factors influencing adolescent depression in the civil-conflict areas of Thailand.
BMC public healthEffect 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.
TrialsMetabolic rewiring through succinate-GPR91 signaling: a fresh perspective on HFpEF energetics.
Cardiovascular diabetologyOral colon targeted curcumin-based nanocomposite inulin hydrogel for alleviating intestinal inflammation and dysbiosis.
Journal of nanobiotechnologyAssociações
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.
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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
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Relationship Between Heart Rate Variability and Sleep Among Girls and Boys With Abdominal Pain-Related Disorders of Gut-Brain Interaction.
- Electride-Induced Electronic Modulation of Ruthenium Catalyst for Highly Efficient Alkaline Hydrogen Evolution.
- The Ovine Brain as a Model for Human Neurodevelopment: Immunohistochemical Profiling of Brain Maturation Markers in Preterm Lambs.
- COVID-19 Vaccination Strategy and Evidence in Korea.
- Chinese Readers Process Word Class of Parafoveal Words During Sentence Reading.
- Membrane Molecular Species Remodeling as a Signature of ω-3 Fatty Acid Action in Cultured Neural Cells.
- ICD-11 PTSD and Complex PTSD Among Internally Displaced Civilian Outpatients in Ukraine During Wartime.
- Pulmonary Function in Pediatric Inflammatory Bowel Disease: A Systematic Review and Meta-Analysis.
- Beyond the Pulmonary Functions: Altered Cognitive-Motor Performance and Motor Imagery in Children With Bronchiectasis.
- Livestock grazing boosts plant diversity in the Greater Serengeti-Mara Ecosystem.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:226307(Orphanet)
- MONDO:0016411(MONDO)
- GARD:20562(GARD (NIH))
- Variantes catalogadas(ClinVar)
- 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
