A testosterona é o principal andrógeno e um esteroide anabolizante. Em humanos e animais do sexo masculino, a testosterona desempenha um papel fundamental no desenvolvimento de tecidos reprodutores masculinos, como testículos e próstata, bem como a promoção de características sexuais secundárias, como o aumento da massa muscular, aumento e maturação dos ossos e o crescimento do cabelo corporal. Além disso, a testosterona está envolvida na saúde, no bem-estar e na prevenção da osteoporose. Níveis insuficientes de testosterona nos homens podem levar a anormalidades, incluindo fragilidade e perda óssea.
Introdução
O que você precisa saber de cara
Doença neurodegenerativa rara com início na infância ou idade adulta, caracterizada por leucodistrofia, ataxia cerebelar e deficiência cognitiva progressiva. Causada por mutações nos genes EIF2B.
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
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
Genes associados
5 genes identificados com associação a esta condição.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 2
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 5
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on the eukaryotic initiation factor 2 (eIF2) complex gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is re
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 3
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 1
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Acts as a component of the translation initiation factor 2B (eIF2B) complex, which catalyzes the exchange of GDP for GTP on eukaryotic initiation factor 2 (eIF2) gamma subunit (PubMed:25858979, PubMed:27023709, PubMed:31048492). Its guanine nucleotide exchange factor activity is repressed when bound to eIF2 complex phosphorylated on the alpha subunit, thereby limiting the amount of methionyl-initiator methionine tRNA available to the ribosome and consequently global translation is repressed (Pub
Cytoplasm, cytosol
Leukoencephalopathy with vanishing white matter 4
An autosomal recessive brain disease characterized by neurological features including progressive cerebellar ataxia, spasticity, and cognitive deficits. Brain imaging shows abnormal white matter that vanishes over time and is replaced by cerebrospinal fluid. Disease severity ranges from fatal infantile forms to adult forms without neurological deterioration. The disease is progressive with, in most individuals, additional episodes of rapid deterioration following febrile infections or minor head trauma. Death may occurs after a variable period after disease onset, usually following an episode of fever and coma. A subset of affected females with milder forms of the disease who survive to adolescence exhibit ovarian dysfunction. This variant of the disorder is called ovarioleukodystrophy.
Variantes genéticas (ClinVar)
186 variantes patogênicas registradas no ClinVar.
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 — Síndrome CACH juvenil ou do adulto
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.
Publicações mais relevantes
Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.
Este estudo sobre artrite idiopática juvenil (AIJ) não sistêmica em crianças revelou que aproximadamente metade dos pacientes experimenta recaídas após a remissão. Fatores como maior duração da doença, múltiplas articulações afetadas no diagnóstico e o envolvimento da articulação metacarpofalângica (MCP) podem predizer essas recaídas. Para um curso de doença mais grave, caracterizado por múltiplas recaídas e necessidade de terapias biológicas, a idade mais jovem no diagnóstico e o envolvimento das articulações do tornozelo e temporomandibular (ATM) são indicadores cruciais para médicos e pacientes.
🇧🇷 traduzidoReliability of durometry to assess firmness of calcinosis lesions in Juvenile and adult dermatomyositis.
Pacientes com dermatomiosite (DM/JDM) frequentemente sofrem de calcinose, uma complicação cuja firmeza é difícil de avaliar. Este estudo validou a durometria, um aparelho manual, como uma ferramenta nova e confiável para medir quantitativamente a dureza dessas lesões. Para médicos e pacientes, isso oferece um método mais objetivo para caracterizar e potencialmente monitorar a calcinose, melhorando a avaliação e o manejo da condição.
🇧🇷 traduzidoAutologous stem cell transplant for severe, progressive juvenile systemic sclerosis.
A esclerose sistêmica juvenil (jSSc) é uma doença autoimune rara e grave em crianças, que causa espessamento da pele, toxicidade de órgãos e tem opções de tratamento limitadas. No entanto, este relato promissor destaca que um transplante autólogo de células-tronco levou a uma melhora clínica em um jovem de 17 anos com jSSc refratária, sugerindo uma alternativa terapêutica potencialmente eficaz para casos severos e sem resposta a tratamentos convencionais. Isso oferece esperança a pacientes e médicos que buscam novas abordagens para essa condição desafiadora.
🇧🇷 traduzidoUltra-fast generation of all-female grass carp via transplantation of female germline stem cells into zebrafish.
Este artigo descreve uma estratégia inovadora e ultrarrápida para gerar carpas-capim exclusivamente fêmeas em apenas seis meses, superando o longo período de maturação natural de cinco anos da espécie. Isso foi alcançado transplantando células-tronco germinativas femininas de carpas juvenis para peixes-zebra, onde essas células se diferenciaram em espermatozoides funcionais, produzindo descendência totalmente feminina. Embora represente um avanço significativo para a aquacultura e o controlo de sexo em peixes, esta pesquisa não possui relevância direta para pacientes ou médicos na área da saúde humana.
🇧🇷 traduzidoBody growth and shape regulation by neuropeptides and other neuroactive peptides in insects.
Este artigo científico revisa como neuropeptídeos e outros peptídeos neuroativos regulam o crescimento e a forma do corpo em **insetos**, controlando o desenvolvimento dos tecidos, o comportamento alimentar e a morfogênese, especialmente em estágios juvenis. Embora focado em insetos, esta pesquisa oferece uma compreensão fundamental de como sistemas de sinalização biológicos coordenam o desenvolvimento. Entender esses mecanismos básicos pode, futuramente, servir como **modelo** para auxiliar na compreensão e no tratamento de distúrbios complexos de crescimento e desenvolvimento em humanos, como os que afetam o tamanho ou a forma corporal em fases juvenis ou adultas.
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Pediatric rheumatology online journalAn Unusual Presentation of Juvenile Amyotrophic Lateral Sclerosis with Superoxide Dismutase 1 Mutation: Subacute Bulbar Palsy With Asymmetric Limb Weakness.
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ChemosphereMicroplastic ingestion in demersal and benthic species from the Portuguese coast: Scyliorhinuscanicula,Trisopterusluscus,Polybiushenslowii.
Marine environmental researchNano-curcumin mitigates aluminum oxide nanoparticle toxicity in Nile tilapia through antioxidant and immune modulation.
Fish physiology and biochemistryComprehensive identification and co-expression analysis of long non-coding RNAs across eight timepoints of Schistosoma mansoni life cycle.
Memorias do Instituto Oswaldo CruzPopulation-level neural rejuvenation dynamics in addiction: a computational framework for understanding developmental plasticity reactivation.
Frontiers in computational neuroscienceEarly-life microbiota disruption-induced deficits in the social brain are sensitive to diet.
iScienceLong-term random sampling confirms high-use areas and indicates declining abundance of juvenile smalltooth sawfish (Pristis pectinata) in Charlotte Harbor, Florida.
Scientific reportsClinicopathologic Findings of Congenital Megalocornea in Three Blue-Throated Conures (Pyrrhura cruentata).
Veterinary ophthalmologyMultiparametric MRI analysis of clinical outcome after hematopoietic stem cell transplantation in juvenile Metachromatic Leukodystrophy.
AJNR. American journal of neuroradiologyThe Size, Demography, and Distribution of Cambodia's Largest Elephant Population Revealed Using Traditional Genetic Tools and a Novel SNP Panel.
Integrative zoologyNup107 is a crucial regulator of torso-mediated metamorphic transition in Drosophila melanogaster.
eLifeOxygen supply capacity across early-life stages in common snook Centropomus undecimalis.
Journal of fish biologySurvival of a Long-Lived Avian Scavenger: Implications of Age, Season, and Landscape Composition for Mortality Risk.
Ecology and evolutionPrimary Productivity and Habitat Depth Shape Developmental Mode in European Marine Gastropods.
Ecology and evolutionTranscriptome profiling of intra-snail stages of the liver fluke Fasciola hepatica reveals key mediators underlying parasite development and interaction with the host.
BMC genomicsAmazon rainforests are rejuvenating their canopies by producing more photosynthetically efficient young leaves under climate change.
Nature plantsGlobal landscape of juvenile dermatomyositis research: a bibliometric analysis.
Pediatric researchThe influence of diet-mediated exposure of avian influenza on adult survival, recruitment and territory occupancy in peregrine falcons.
Scientific reports2016 sJIA-MAS criteria and a step-up therapeutic approach in KD-MAS: insights from a combined cohort and literature review.
RMD open3,5-Dibromo-4-hydroxybenzaldehyde induced neurodevelopmental defects via endoplasmic reticulum stress-mediated apoptotic pathway in zebrafish.
Chemico-biological interactionsRelationships between social support, resilience and psychological distress among young offenders in Ghana's correctional facilities: A three-wave longitudinal mediation model.
Journal of forensic and legal medicineStructural violence and the mental health of asylum-seeking minors: A retrospective directed content analysis.
The American journal of orthopsychiatryFruit and seed attributes of plants derived from crossing between triploid Passionflower cytotypes.
Journal of plant researchMechanical traumatic injuries as a cause of death in free-ranging neotropical non-human primates living in anthropogenic matrices.
Primates; journal of primatologyImaging characteristics of parotid gland juvenile capillary hemangioma: A Retrospective analysis of 35 pathologically confirmed cases.
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 SurgeryHigh Healthcare Utilization Preceding Diagnosis with Juvenile Idiopathic Arthritis.
Arthritis care & researchTrajectories of Physical Function in Canadian Children with Juvenile Idiopathic Arthritis.
Arthritis care & researchAlkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?
JIMD reportsEliglustat prevents acute kidney injury caused by Shiga toxin 2 in lethal and sublethal rat models of hemolytic uremic syndrome.
Frontiers in pharmacologyThe Role of Homework Completion During Adolescence on Education and Income Levels in Emerging Adulthood: Results From a Randomized Controlled Trial With Females in Out-Of-Home Care.
Emerging adulthood (Print)Eruptive juvenile xanthogranuloma and B-cell acute lymphoblastic leukemia in a child: Case report and literature review.
JAAD case reportsIntegrated morphological and transcriptomic analysis of sucker development in Octopus minor.
Animal cells and systemsPreservation of pediatric donor hearts via subnormothermic machine perfusion: Comparison to cold storage.
JHLT openJuvenile Granulosa Cell Tumor of the Ovary in Pregnancy: A Case Report.
Gynecology and minimally invasive therapyComprehensive Analysis Reveals Potential Molecular Targets in Juvenile Dermatomyositis.
Biochemistry research internationalResource Availability Modulates Gene Expression Across Life Stages in a Migratory Butterfly.
Molecular ecologyReliability and Construct Validity of the Physician's Global Assessment of Lung Disease in Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease.
ACR open rheumatologyEarly-life adversity and the role of habitat: Consequences for females growing up in a marginal environment.
Hormones and behaviorBisphenol A disrupts circadian locomotor rhythms via m6A-dependent nr1d1 destabilization in zebrafish larvae.
Ecotoxicology and environmental safetyRecent advances in the juvenile-to-adult phase transition.
Current opinion in plant biologyBehavioral health trajectories and rearrest outcomes among system-involved male youth.
Development and psychopathologyMicroscopic detection of nematodes in entomopathogenic nematode-enriched samples using a lightweight deep learning model.
Journal of invertebrate pathologyEnzymatic activity, histological slices, and hepatic transcriptomics analysis of isoprothiolane effects on juvenile tilapia (Oreochromis niloticus).
Comparative biochemistry and physiology. Toxicology & pharmacology : CBPCan liver biopsy be spared for the diagnosis of autoimmune hepatitis in selected children? A multicenter retrospective study.
Annals of hepatologyEvaluation of IVIM-MRI biomarkers for microvascular dysfunction and prognosis in juvenile osteochondritis dissecans of the knee: a single-center study.
Journal of orthopaedic surgery and researchShifts in type 2 vomeronasal receptor expression during postnatal development in the lungfish olfactory organ.
Journal of anatomyExperience Using Efgartigimod to Treat Juvenile Myasthenia Gravis in China: A Multicenter Retrospective Study.
Muscle & nerveSoluble factors released from fibroblast-like synoviocytes of JIA patients with future extended course can condition persistent JIA synovial fibroblasts for increased IL-6 production.
Arthritis research & therapyReview. Cell Biology and Immunohistochemical Evidence of the Transition Between an Aquatic to a Terrestrial-Waterproof Epidermis in the Archosaurian Alligator.
Journal of experimental zoology. Part B, Molecular and developmental evolutionImpact of risperidone and voluntary exercise on ketone body metabolism-related gene expression in the brain of female juvenile rats.
Behavioural brain researchDynamics of domestic cat hepatitis B virus infection in juvenile cats.
Veterinary microbiologyObject and tool manipulation diversity in an urban capuchin monkey (Sapajus libidinosus) group in Brasília National park.
Primates; journal of primatologyIndividual differences in inhibitory control may influence how endangered eels deal with river barriers during migration.
Animal cognitionMechanisms linking parents' education level to adolescent gaming disorder among Chinese Special School students: serial mediating effects of emotional abuse experience and psychopathy.
BMC psychologyEarlier fracture union and earlier weight-bearing: arthroscopy-assisted versus open reduction with percutaneous K-wire fixation for juvenile Tillaux fractures.
BMC musculoskeletal disordersAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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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.
- Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.
- Reliability of durometry to assess firmness of calcinosis lesions in Juvenile and adult dermatomyositis.
- Autologous stem cell transplant for severe, progressive juvenile systemic sclerosis.
- Ultra-fast generation of all-female grass carp via transplantation of female germline stem cells into zebrafish.
- Body growth and shape regulation by neuropeptides and other neuroactive peptides in insects.
- Anti-PD-L1 therapy to prevent systemic immune suppression after polytraumatic brain injury in rats.
- A proposal for the implementation of telemedicine in Japan for rheumatoid arthritis, juvenile idiopathic arthritis, and systemic lupus erythematosus: review article.
- Pediatric Myasthenia Gravis.
- The Association between Type of Maltreatment and Placement Instability: The Influence of Runaway and Dual System Involvement.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:157719(Orphanet)
- MONDO:0015521(MONDO)
- GARD:16980(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Q56013731(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