O hipotireoidismo congênito permanente é um tipo de hipotireoidismo congênito, ou seja, uma falta de hormônio da tireoide que já existe desde o nascimento.
Introdução
O que você precisa saber de cara
O hipotireoidismo congênito permanente é uma condição que se inicia ao nascer, na qual o corpo não produz hormônios da tireoide em quantidade suficiente de forma definitiva. O quadro pode vir acompanhado de sinais como sonolência, **hipoglicemia** (baixa de açúcar no sangue) e traços faciais característicos. No Brasil, a suspeita costuma começar logo nos primeiros dias de vida com o exame do pezinho por meio do TSH neonatal em papel-filtro. O Ministério da Saúde possui um PCDT aprovado para Hipotireoidismo Congênito, classificado com nível de cobertura parcial no sistema público de saúde.
O hipotireoidismo congênito permanente é um tipo de hipotireoidismo congênito, ou seja, uma falta de hormônio da tireoide que já existe desde o nascimento.
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
+ 47 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 110 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive, Not applicable.
Hypothyroidism, congenital, non-goitrous, 4
A form of central hypothyroidism, a disorder characterized by insufficient stimulation by thyroid stimulating hormone of an otherwise normal thyroid gland. CHNG4 is an autosomal recessive form characterized by isolated thyrotropin deficiency that, if untreated, results in severe growth retardation and intellectual disability.
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.
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.
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.
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.
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.
Hypothyroidism, congenital, non-goitrous, 7
A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by thyrotropin of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG7 is a congenital, autosomal recessive form characterized by normal-to-low T4 and normal-to-high thyrotropin levels, and reduced or absent pituitary responsiveness to thyrotropin-releasing hormone. Patients may exhibit short stature, growth retardation, and delayed bone age, as well as lethargy or fatigue.
Hypothyroidism, central, and testicular enlargement
A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood.
Thyroid hormone metabolism, abnormal, 1
A disorder associated with a reduction in type II iodothyronine deiodinase activity.
Hypothyroidism, congenital, non-goitrous, 6
A disease characterized by growth retardation, developmental retardation, skeletal dysplasia, borderline low thyroxine levels and high triiodothyronine levels. There is differential sensitivity to thyroid hormone action, with retention of hormone responsiveness in the hypothalamic pituitary axis and liver but skeletal, gastrointestinal, and myocardial resistance.
Variantes genéticas (ClinVar)
154 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
10 vias biológicas associadas 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 congênito permanente
Centros de Referência SUS
24 centros habilitados pelo SUS para Hipotireoidismo congênito permanente
Centros para Hipotireoidismo congênito permanente
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
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
Early prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study.
Early differentiation between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) is crucial for optimizing the duration of treatment. This retrospective cohort study aimed to evaluate whether levothyroxine (LT4) dose requirements over time can predict TCH and guide earlier discontinuation of treatment. We retrospectively analyzed 105 infants with congenital hypothyroidism and normal thyroid glands confirmed by imaging at a single tertiary care center (Inha University Hospital) between January 2013 and December 2022. Patients were classified into TCH (n=70) or PCH (n=35) based on thyroid function after LT4 withdrawal at 3 years of age. LT4 dose/kg at 6, 12, and 24 months, along with clinical and biochemical parameters, were compared between the 2 groups. Receiver operating characteristic (ROC) curve analysis was used to assess the predictive performance of LT4 dose thresholds. The LT4 dose was significantly lower in the TCH group at 6 (3.16±0.83 μg/kg vs. 3.75±0.99 μg/kg, P=0.005), 12 (2.51±0.82 μg/kg vs. 3.37±1.17 μg/kg, P<0.001), and 24 months (2.02±0.61 μg/kg vs. 3.09±1.19 μg/kg, P<0.001). ROC curve analysis showed an area under the curve (AUC) of 0.649, 0.746, and 0.794 at 6, 12, and 24 months, respectively. A logistic regression model incorporating LT4 dose, birth weight, and thyroid-stimulating hormone (TSH) levels improved prediction accuracy (AUC: 0.740, 0.782, 0.833 at 6, 12, and 24 months, respectively). LT4 dose requirements at 6, 12, and 24 months serve as useful indicators for differentiating TCH from PCH. A combined predictive model incorporating LT4 dose, birth weight, and TSH levels may improve diagnostic accuracy, supporting earlier discontinuation of treatment.
Permanent or Transient Congenital Hypothyroidism: A Diagnostic Dilemma.
Distinguishing between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) remains clinically challenging and is typically deferred until the age of 2-3 years, to minimise the potential risk of adverse neurodevelopmental effects due to treatment cessation. However, evidence suggests that earlier discrimination may be feasible, thus avoiding unnecessary, potentially harmful, prolonged levothyroxine (LT4) treatment. This narrative review aims to provide an overview of the current literature regarding potential predictive markers for distinguishing PCH from TCH. A comprehensive search of the PubMed and Google Scholar databases was independently performed by two authors to identify studies that evaluated the utility of several predictive factors. A total of 27 studies were included. The most commonly proposed predictors were thyroid imaging findings, thyroid-stimulating hormone (TSH) levels at diagnosis, LT4 doses at various time points during the treatment period, absolute daily LT4 dose, and episodes of TSH elevation above the reference interval during treatment. Despite these advances, no single marker or combination of markers has yet proven definitive in reliably differentiating PCH from TCH. Further research is needed to establish predictive models that could facilitate the early identification of TCH and the timely and safe treatment withdrawal.
Hearing assessment of Egyptian children with permanent congenital hypothyroidism: A single-center experience.
Term birth and levothyroxine dosage are significant factors associated with permanent congenital hypothyroidism: experience from a medical center in Taiwan.
Before the introduction of newborn screening, congenital hypothyroidism was the leading cause of intellectual disability in infants and children. Patients with permanent congenital hypothyroidism require lifelong levothyroxine supplementation to prevent intellectual disability and growth failure. With progressively lower thyrotropin (TSH) cutoffs in newborn screening programs, more transient congenital hypothyroidism cases-requiring only temporary treatment-have also been identified. To avoid unnecessary medication use and reduce the burden on healthcare systems, early differentiation is essential. We retrospectively enrolled congenital hypothyroidism patients born between 2004 and 2018 and followed at MacKay Children's Hospital and classified them as permanent congenital hypothyroidism or transient congenital hypothyroidism based on levothyroxine dependence. Basic demographic data, including gender, gestational age, birth weight, newborn screening TSH levels, body height and weight, serum free T4, TSH levels, levothyroxine doses at every clinical visit, and age of TSH normalization were collected and compared between permanent and transient congenital hypothyroidism groups. A total of 152 infants were enrolled in this study, with 73 (48%) classified as permanent congenital hypothyroidism. Term births were more common in permanent than transient congenital hypothyroidism (80% vs. 48%, p < 0.01). TSH normalization took longer in permanent congenital hypothyroidism (75 vs. 45 days, p < 0.01). Serum TSH and levothyroxine doses remained higher in permanent congenital hypothyroidism at 6 months, and at 1, 2, and 3 years. The levothyroxine dose that provided the best discrimination between permanent and transient congenital hypothyroidism was 2.5 𝛍g/kg/d at age 2 years (sensitivity: 73%, specificity: 90%), and 1.8 𝛍g/kg/d at age 3 years (sensitivity: 82%, specificity: 91%). Nearly half of the patients required lifelong levothyroxine supplements under the current newborn screening program. Permanent congenital hypothyroidism patients were more likely term-born, showed delayed TSH normalization, had higher TSH levels, and required higher levothyroxine doses during follow-up. The best cut-off level to discriminate permanent from transient congenital hypothyroidism was 2.5 and 1.8 µg/kg/day at the age of 2 and 3 years, respectively.
Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?
Congenital hypothyroidism (CH) is the most common congenital endocrine disorder and one of the most preventable causes of intellectual disability. The underlying etiology of CH can be thyroid dysgenesis or dyshormonogenesis, and in rare cases, CH can occur as part of a genetic syndrome. Sotos syndrome is a rare overgrowth disorder caused by pathogenic variants in the NSD1 gene, characterized by excessive growth in infancy, distinctive facial features, and developmental delay. We describe two unrelated children with permanent CH and genetically confirmed Sotos syndrome. Both children were referred to our Pediatric Endocrinology Centre due to abnormal thyroid-stimulating hormone (TSH) values detected through neonatal screening. A permanent CH was confirmed in both cases: one patient had thyroid hypoplasia with the presence of only the right thyroidal lobe; the other one had an in-situ thyroid gland. The diagnosis of Sotos syndrome was made later in infancy. In the first case, auxological parameters at birth were within normal ranges and overgrowth became apparent after six months of age; in the second case, overgrowth was already manifest at birth, but the diagnosis was guided primarily by the neurodevelopmental delay. We describe two cases in which CH occurred with Sotos syndrome, and we hypothesize that this association may not be coincidental. To our knowledge, these are among the few reported cases of genetically confirmed Sotos syndrome associated with permanent congenital hypothyroidism. Further studies are needed to determine whether CH is a clinical feature of Sotos syndrome or an unrelated finding. We recommend early thyroid function testing in patients with Sotos syndrome and suggest suspecting Sotos syndrome in children presenting with CH, cognitive delay and overgrowth or additional congenital anomalies.
Publicações recentes
Hearing assessment of Egyptian children with permanent congenital hypothyroidism: A single-center experience.
Early prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study.
Predictive Factors of Transient Congenital Hypothyroidism among Filipino Children: A Retrospective Study.
Prematurity Appears to Be the Main Factor for Transient Congenital Hypothyroidism in Greece, a Recently Iodine-Replete Country.
Term birth and levothyroxine dosage are significant factors associated with permanent congenital hypothyroidism: experience from a medical center in Taiwan.
📚 EuropePMC46 artigos no totalmostrando 79
Hearing assessment of Egyptian children with permanent congenital hypothyroidism: A single-center experience.
International journal of pediatric otorhinolaryngologyEarly prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study.
Annals of pediatric endocrinology & metabolismPredictive Factors of Transient Congenital Hypothyroidism among Filipino Children: A Retrospective Study.
Acta medica PhilippinaPrematurity Appears to Be the Main Factor for Transient Congenital Hypothyroidism in Greece, a Recently Iodine-Replete Country.
NutrientsTerm birth and levothyroxine dosage are significant factors associated with permanent congenital hypothyroidism: experience from a medical center in Taiwan.
BMC pediatricsCongenital hypothyroidism in two children affected by Sotos syndrome: a simple association?
Italian journal of pediatricsPermanent or Transient Congenital Hypothyroidism: A Diagnostic Dilemma.
Acta paediatrica (Oslo, Norway : 1992)Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.
Thyroid : official journal of the American Thyroid AssociationDifferentiating transient and permanent congenital hypothyroidism: predictive clues from Istanbul, Türkiye.
Journal of pediatric endocrinology & metabolism : JPEM50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Transient or permanent congenital hypothyroidism: from milestones to current and future perspectives.
European thyroid journalPredicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism.
Annals of pediatric endocrinology & metabolismTransient vs Permanent Congenital Hypothyroidism: Does Thyroid Volume Tell the Tale?
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsPermanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis.
Case reports in medicineGenetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
International journal of molecular sciencesAuthor Correction: Age of menarche and final height in patients with permanent congenital hypothyroidism.
Annals of pediatric endocrinology & metabolismPredictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study.
Annals of pediatric endocrinology & metabolismAge of menarche and final height in patients with permanent congenital hypothyroidism.
Annals of pediatric endocrinology & metabolismThe natural course of newborns with transient congenital hypothyroidism.
Endocrine connectionsComparison Between Ultrasonography and Radiography in the Detection of Epiphyseal Ossification Centers of the Knee in Infants With Permanent Congenital Hypothyroidism.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineDiagnostic options, physiopathology, risk factors and genetic causes of permanent congenital hypothyroidism: A narrative review.
Caspian journal of internal medicinePatients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
International journal of molecular sciencesA practical gestational age-based algorithm for timely detection of hypothyroidism in premature infants.
Journal of perinatology : official journal of the California Perinatal AssociationHigh frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients.
Journal of endocrinological investigationComparison between transient and permanent congenital hypothyroidism on a thyroid function test after re-evaluation.
Annals of pediatric endocrinology & metabolismEvaluation of patients diagnosed with congenital hypothyroidism by newborn screening between 2011-2019 in Diyarbakir, Turkey.
MedicinePermanent vs Transient Congenital Hypothyroidism in Chinese Children: Physical Growth and Predictive Nomogram.
The Journal of clinical endocrinology and metabolismCongenital hypothyroidism and thyroid function in a Japanese birth cohort: data from The Japan Environment and Children's Study.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyEvaluation of Transient or Permanent Congenital Hypothyroidism.
Journal of clinical practice and researchPhysical Development at School Entry in Children with Congenital Hypothyroidism Diagnosed by the National Program of Newborn Screening in Iran.
International journal of endocrinology and metabolismCongenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.
Journal of pediatric endocrinology & metabolism : JPEMPredictive factors for the diagnosis of permanent congenital hypothyroidism and its temporal changes in Sergipe, Brazil - A real-life retrospective study.
Archives of endocrinology and metabolismClinical and genetic investigation in patients with permanent congenital hypothyroidism.
Clinica chimica acta; international journal of clinical chemistryGene mutations in children with permanent congenital hypothyroidism in Yunnan, China.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesIatrogenic hyperthyroidism in primary congenital hypothyroidism: prevalence and predictive factors.
Journal of pediatric endocrinology & metabolism : JPEMDiagnostic Re-Evaluation and Potential Predictor Factors of Transient and Permanent Congenital Hypothyroidism in Eutopic Thyroid Gland.
Journal of clinical medicineScreening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Journal of endocrinological investigationTransient vs Permanent Congenital Hypothyroidism in Ontario, Canada: Predictive Factors and Scoring System.
The Journal of clinical endocrinology and metabolismCongenital Hypothyroidism Can Dictate the Mode of Delivery and Intra-Labor Medication Usage.
Thyroid : official journal of the American Thyroid AssociationCongenital hypothyroidism in Indian preterm babies - screening, prevalence, and aetiology.
Pediatric endocrinology, diabetes, and metabolismCase Report: Expanding the Digenic Variants Involved in Thyroid Hormone Synthesis-10 New Cases of Congenital Hypothyroidism and a Literature Review.
Frontiers in geneticsSotos syndrome with a novel mutation in the NSD1 gene associated with congenital hypothyroidism.
International journal of pediatrics & adolescent medicineThyroid Function in Preterm/Low Birth Weight Infants: Impact on Diagnosis and Management of Thyroid Dysfunction.
Frontiers in endocrinologyNewborn Screening for Congenital Hypothyroidism in Japan.
International journal of neonatal screeningCurating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.
Molecular and cellular endocrinologyPrevalence and predictive factors of transient and permanent congenital hypothyroidism in Fars province, Iran.
BMC pediatricsRe-Evaluation of the Prevalence of Permanent Congenital Hypothyroidism in Niigata, Japan: A Retrospective Study.
International journal of neonatal screeningRisk factors for transient and permanent congenital hypothyroidism: a population-based case-control study.
Thyroid researchThyroid imaging study in children with suspected thyroid dysgenesis.
Annals of pediatric endocrinology & metabolismIntelligence Quotient, Anxiety, and Depression in Congenital Hypothyroid Children at School Age.
International journal of preventive medicineDevelopment of a risk prediction model for early discrimination between permanent and transient congenital hypothyroidism.
EndocrineIncrease in doses of levothyroxine at the age of 3 years and above is useful for distinguishing transient and permanent congenital hypothyroidism.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyPearls and Pitfalls in Pediatric Thyroid Imaging.
Seminars in ultrasound, CT, and MRComplicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
International journal of endocrinologyValidity of Six Month L-Thyroxine Dose for Differentiation of Transient or Permanent Congenital Hypothyroidism.
Journal of clinical research in pediatric endocrinologyEPIDEMIOLOGIC CHARACTERISTICS AND RISK FACTORS FOR CONGENITAL HYPOTHYROIDISM FROM 2009 TO 2018 IN XIAMEN, CHINA.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical EndocrinologistsLevothyroxine dosages less than 2.4 μg/kg/day at 1 year and 1.3 μg/kg/day at 3 years of age may predict transient congenital hypothyroidism.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyPrediction of Transient or Permanent Congenital Hypothyroidism.
Indian pediatricsLevothyroxine Dosage as Predictor of Permanent and Transient Congenital Hypothyroidism: A Multicenter Retrospective Study in Japan.
Hormone research in paediatricsCongenital hypothyroidism in different cities of the Isfahan province: A descriptive retrospective study.
Journal of education and health promotionThe value of serial newborn screening for congenital hypothyroidism using thyroxine (T4) in the neonatal intensive care unit.
Journal of perinatology : official journal of the California Perinatal AssociationPrediction of Transient or Permanent Congenital Hypothyroidism from Initial Thyroid Stimulating Hormone Levels.
Indian pediatricsHigher prevalence of permanent congenital hypothyroidism in the Southwest of Iran mostly caused by dyshormonogenesis: a five-year follow-up study.
Archives of endocrinology and metabolismOptimal Timing of Repeat Newborn Screening for Congenital Hypothyroidism in Preterm Infants to Detect Delayed Thyroid-Stimulating Hormone Elevation.
The Journal of pediatricsA 7-year study on the prevalence of congenital hypothyroidism in northern Iran.
Electronic physicianIntelligence Quotient at the Age of Six years of Iranian Children with Congenital Hypothyroidism.
Indian pediatrics[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].
Archivos argentinos de pediatriaThree-year follow-up of children with abnormal newborn screening results for congenital hypothyroidism.
Pediatrics and neonatology[Genetic analysis of TPO, DUOX2 and DUOXA2 genes in children with permanent congenital hypothyroidism suspected dyshormonogenesis].
Zhonghua er ke za zhi = Chinese journal of pediatricsTransient versus Permanent Congenital Hypothyroidism after the Age of 3 Years in Infants Detected on the First versus Second Newborn Screening Test in Oregon, USA.
Hormone research in paediatricsCan One Predict Resolution of Neonatal Hyperthyrotropinemia?
The Journal of pediatricsHigh prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
Journal of pediatric endocrinology & metabolism : JPEMNext-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.
Clinica chimica acta; international journal of clinical chemistryPermanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L.
Archives of disease in childhoodFeasibility of an Early Discontinuation of Thyroid Hormone Treatment in Very-Low-Birth-Weight Infants at Risk for Transient or Permanent Congenital Hypothyroidism.
Hormone research in paediatricsThyroid dysfunction and developmental anomalies in first degree relatives of children with thyroid dysgenesis.
World journal of pediatrics : WJPThe evaluation of transient hypothyroidism in patients diagnosed with congenital hypothyroidism.
Turkish journal of medical sciencesMutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.
Journal of endocrinological investigationEarly Discrimination between Transient and Permanent Congenital Hypothyroidism in Children with Eutopic Gland.
Hormone research in paediatricsHypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene.
Journal of pediatric endocrinology & metabolism : JPEMAssociações
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Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Existe um documento oficial para "Hipotireoidismo Congênito". Ele pode não cobrir esta forma específica da doença — confira no texto do protocolo antes de contar com ele.
Trata-se de uma falta de hormônio da tireoide que está presente desde o nascimento e tem caráter permanente. É registrado internacionalmente sob os códigos ORPHA:226292 e MONDO:0016408.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
7 publicações do grafo RarasNet (PubMed) · 6 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. (s.d.). Hipotireoidismo congênito permanente. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/hipotireoidismo-congenito-permanente
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Hipotireoidismo congênito permanente
📋 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
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Dado público estruturado
- fonte: Wikidata
- Reposicionamento
- fonte: Drug Repurposing Hub
