Deficiência de hormônio tireoidiano presente desde o nascimento.
Introdução
O que você precisa saber de cara
Deficiência de hormônio tireoidiano presente desde o nascimento.
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<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
+ 70 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 166 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
25 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 stoichiometry (PubMed:10644529, PubMed:15155570, PubMed:24051746, PubMed:35601831). Mediates electroneutral iodide-bicarbonate exchange (By similarity)
Cell membraneApical cell membrane
Pendred syndrome
An autosomal recessive disorder characterized by congenital sensorineural hearing loss in association with thyroid goiter. The disorder may account for up to 10% of the cases of hereditary deafness. The deafness is most often associated with a Mondini cochlear defect. Deafness occurs early, starting at birth or during the first years of life. It is bilateral, sometimes asymmetrical, fluctuant and often progressive. Thyroid perturbations, such as thyroid goiter and/or hypothyroidism appear most commonly during adolescence, but they can be congenital or appear later.
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.
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.
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.
May be responsible for potassium buffering action of glial cells in the brain (By similarity). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:8995301). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:8995301). The inward rectification is mainly d
MembraneBasolateral cell membrane
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance
A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity)
Nucleus
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.
As a component of the hypothalamic-pituitary-thyroid axis, it controls the secretion of thyroid-stimulating hormone (TSH) and is involved in thyroid hormone synthesis regulation. It also operates as modulator of hair growth. It promotes hair-shaft elongation, prolongs the hair cycle growth phase (anagen) and antagonizes its termination (catagen) by TGFB2. It stimulates proliferation and inhibits apoptosis of hair matrix keratinocytes
Secreted
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.
Catalyzes the dehalogenation of halotyrosines such as 3-bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5-diiodo-L-tyrosine (PubMed:15289438, PubMed:18434651, PubMed:25395621, PubMed:28157283). During thyroid hormone biosynthesis, facilitates iodide salvage by catalysing the oxidative NADPH-dependent deiodination of the halogenated by-products of thyroid hormone production, monoiodotyrosine (L-MIT) and diiodotyrosine (L-DIT) (PubMed:15289438, PubMed:18434651). The scavanged iodide
Cell membraneCytoplasmic vesicle membrane
Thyroid dyshormonogenesis 4
A disorder due to thyroid dyshormonogenesis, causing severe hypothyroidism, goiter, excessive levels of iodotyrosine in serum and urine, and variable mental deficits derived from unrecognized and untreated hypothyroidism.
F-box-like protein involved in the recruitment of the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units (PubMed:14980219). Plays an essential role in transcription activation mediated by nuclear receptors. Probably acts as integral component of corepressor complexes that mediates the recruitment of the 19S proteasome complex, leading to the subsequent proteasomal degradation of transcription repressor complexes, thereby allowing cofactor exchange (PubMed:21240272
Nucleus
Hypothyroidism, congenital, non-goitrous, 8
A form of central hypothyroidism, a disorder characterized by sub-optimal thyroid hormone secretion, due to insufficient stimulation by the thyroid stimulating hormone of an otherwise normal thyroid gland. It may be caused by congenital or acquired disorders of the pituitary gland or hypothalamus. CHNG8 is a congenital, X-linked, relatively mild form which may be accompanied by hearing loss in some patients.
Receptor for thyrotropin-releasing hormone (TRH). Upon ligand binding, this G-protein-coupled receptor triggers activation of the phosphatidylinositol (IP3)-calcium-protein kinase C (PKC) pathway
Cell membrane
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.
Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription
MembraneSecreted
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.
Required for the maturation and transport of functional DUOX2 from the endoplasmic reticulum to the plasma membrane (PubMed:16651268). Recruits DUOX2 to the apical cell membrane (PubMed:39126279)
Endoplasmic reticulum membraneApical cell membrane
Thyroid dyshormonogenesis 5
A disorder due to thyroid dyshormonogenesis, causing hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism.
Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4)
MembraneCell surface
mRNA-binding protein that binds to the SECIS (selenocysteine insertion sequence) element present in the 3'-UTR of mRNAs encoding selenoproteins and facilitates the incorporation of the rare amino acid selenocysteine (PubMed:35709277). Insertion of selenocysteine at UGA codons is mediated by SECISBP2 and EEFSEC: SECISBP2 (1) specifically binds the SECIS sequence once the 80S ribosome encounters an in-frame UGA codon and (2) contacts the RPS27A/eS31 of the 40S ribosome before ribosome stalling (Pu
NucleusMitochondrion
Thyroid hormone metabolism, abnormal, 1
A disorder associated with a reduction in type II iodothyronine deiodinase activity.
Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO (PubMed:15972824). Plays a role in thyroid hormone synthesis. Also required for lactoperoxidase-mediated antimicrobial defense at the surface of mucosa (PubMed:12824283). Synthesizes NAADP from its reduced NAADPH form which promotes Ca(2+) signaling during T cell activation (PubMed:34784249). May have its own peroxidase activity through its N-terminal peroxidase-like domain
Apical cell membraneCell junction
Thyroid dyshormonogenesis 6
A disorder due to a defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete.
Sodium:iodide symporter that mediates the transport of iodide into the thyroid gland (PubMed:12488351, PubMed:18372236, PubMed:18708479, PubMed:20797386, PubMed:31310151, PubMed:32084174, PubMed:8806637, PubMed:9329364). Can also mediate the transport of chlorate, thiocynate, nitrate and selenocynate (PubMed:12488351)
Cell membraneCytoplasm
Thyroid dyshormonogenesis 1
A disorder characterized by the inability of the thyroid to maintain a concentration difference of readily exchangeable iodine between the plasma and the thyroid gland, leading to congenital hypothyroidism.
Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2 domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis. Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein
Cell membrane
Hypothyroidism, congenital, non-goitrous, 9
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. CHNG9 is a congenital, X-linked recessive form. Patients have a small thyroid gland with low free T4 levels and inappropriately normal levels of thyrotropin.
Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine Does not bind thyroid hormone and functions as a weak dominant negative inhibitor of thyroid hormone action
NucleusCytoplasm
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.
Transcription factor for the thyroid-specific expression of the genes exclusively expressed in the thyroid cell type, maintaining the functional differentiation of such cells
Nucleus
Hypothyroidism, congenital, non-goitrous, 2
A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue.
Receptor for the thyroid-stimulating hormone (TSH) or thyrotropin (PubMed:11847099, PubMed:12045258). Also acts as a receptor for the heterodimeric glycoprotein hormone (GPHA2:GPHB5) or thyrostimulin (PubMed:12045258). TSHR is coupled to G(s) proteins and mediates the activation of adenylate cyclase (PubMed:11847099, PubMed:35940205, PubMed:35940204). This leads to the generation of cyclic adenosine monophosphate (cAMP), which in turn activates protein kinase A (PKA). PKA subsequently phosphoryl
Cell membraneBasolateral cell membrane
Indispensable for the control of thyroid structure and metabolism
Secreted
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.
Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). Together with PBX1, required for spleen development through a mechanism that involves CD
Nucleus
Atrial septal defect 7, with or without atrioventricular conduction defects
A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria, and atrioventricular conduction defects in some cases.
Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:17532758, PubMed:32025030). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin followed by their oxidative coupling in the thyroid follicle lumen (PubMed:32025030). Following TG re-internalization and lysosomal-mediated proteolysis, T3 and T4 are released from the polypeptide backbone leading to their secretion into the bloodstream (P
Secreted
Thyroid dyshormonogenesis 3
A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.
Medicamentos e terapias
Mecanismo: Thyroid hormone receptor agonist
Mecanismo: Thyroid hormone receptor agonist
Variantes genéticas (ClinVar)
972 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 561 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
53 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
Centros de Referência SUS
24 centros habilitados pelo SUS para Hipotireoidismo congênito
Centros para Hipotireoidismo congênito
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
Ensaios em destaque
🟢 Recrutando agora
6 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
25 ensaios clínicos encontrados, 9 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.636
A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
Familial glucocorticoid deficiency type 4 (GCCD4), caused by nicotinamide nucleotide transhydrogenase (NNT) gene mutations, represents a rare multisystem disorder with poorly characterized cardiac manifestations. A 12-year-old female presented with recurrent fatigue, syncope, and severe arrhythmias. After multiple misdiagnoses [including dilated cardiomyopathy, fulminant myocarditis, and long QT syndrome (LQTS)], comprehensive evaluation revealed hypocortisolism (<1.0 µg/dL), markedly elevated adrenocorticotropic hormone (ACTH) (>1,250 pg/mL), and hypothyroidism. Genetic testing identified compound heterozygous NNT mutations (c.639_640insC/p.Val214Argfs*32 and c.2764C>T/p.Arg922*). Comprehensive whole-exome sequencing (WES) ruled out pathogenic variants in genes associated with isolated cardiomyopathy or congenital hypothyroidism. Cardiac assessment showed left ventricular dilation [left ventricular end-diastolic diameter (LVEDD) 5.14 cm], reduced left ventricular ejection fraction (LVEF) 53%, and corrected QT interval (QTc) prolongation (559 ms) with torsades de pointes. The patient was managed with hormone replacement (hydrocortisone 8.8→16.1 mg/m2/day; levothyroxine 16.7 µg/day) and cardioprotective therapy (propranolol, captopril, coenzyme Q10), resulting in significant improvement at 3-year follow-up: ejection fraction (EF) normalized to 68%, thyroid function recovered permitting levothyroxine discontinuation, hyperpigmentation resolved completely, and no arrhythmias recurred. This case underscores GCCD4 as a differential diagnosis in pediatric cardiomyopathy with arrhythmias. Multidisciplinary collaboration and early genetic testing are critical for diagnosis. Individualized glucocorticoid dosing combined with cardiac support enables favorable outcomes.
Predicting Pathogenicity of TSHR Missense Variants of Uncertain Significance: An Integrative Computational Study.
Pathogenic variants in the thyroid-stimulating hormone receptor gene (TSHR) contribute to a wide spectrum of thyroid dysfunctions, ranging from congenital hypothyroidism to thyrotropin resistance. With the advancement of bioinformatics algorithms for variant effect prediction, assessing the pathogenic potential of variants has become increasingly important. This study aimed to investigate the pathogenic effects of TSHR variants classified as variants of uncertain significance (VUSs) in the gnomAD v4.1.0 database. TSHR variants listed in gnomAD v4.1.0 were retrieved and filtered to select missense VUSs based on ClinVar classifications. Multiple bioinformatics tools were used to assess the secondary and three-dimensional structures of the TSHR, as well as protein stability, evolutionary conservation, and molecular dynamics simulations. A total of 2760 TSHR variants were found in gnomAD v4.1.0, including 75 frameshifts, 80 splice-sites, 265 in the 3' and 5' untranslated regions, 422 synonymous, 892 others, and 1026 missense variants. Among these, 68 missense VUSs were identified and selected for bioinformatics analysis. Three variants (p.Cys29Trp, p.Leu57Pro, and p.Phe97Ser) were consistently predicted to be pathogenic by all the bioinformatics tools used. All three variants were located within the leucin-rich repeat domain extracellular region of the TSHR and within a highly conserved region across species. Molecular dynamics simulations for mutant proteins (p.Cys29Trp, p.Leu57Pro, and p.Phe97Ser) reveal structural instability in comparison to the wild protein. Comprehensive bioinformatics analysis revealed that three TSHR missense VUSs exhibited pathogenic potential. These variants may contribute to thyroid dysfunction by affecting the receptor's structural and signalling integrity.
Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.
Neonatal screening has not been demanded by pediatricians nor parents in India because of limited resources, inadequate health information, early hospital discharges, a large rate of deliveries at home, and challenges with follow-up of results. This study was conducted based on the laboratory e-records from the Newborn Screening Unit, where Dried Blood Spot-based analysis was performed for G6PD deficiency, congenital adrenal hyperplasia, neonatal hypothyroidism, biotinidase deficiency, and galactosemia. The total study population comprised 3210 neonates. Overall, 329 children (10.2%) had some form of inherited disorder, and 12 (0.4%) suffered from two disorders concomitantly. The highest number of children were suffering from partial biotinidase deficiency (4.5%), followed by G6PD deficiency (2.7%). There was no significant difference in the levels of measured analytes in males and females, except for 17-OHP, which was significantly higher in males. Compared with females, males were more likely to have G6PD and biotinidase deficiency. Our study provides a snapshot of five inherited disorders previously unexamined by neonatal screening in Eastern India. We found a high prevalence of G6PD deficiency and other substantive neonatal conditions. Now that the significant prevalence of these disorders is known, stakeholders should work with policy-makers to institute national-level screening to determine their distribution in the broader population and address them in affected groups. Further studies are needed to identify effective implementation strategies, overcome financial and logistical barriers to an NBS program, and assess whether such a program can reach and benefit all communities, especially the most vulnerable.
Perinatal Factors Associated With Congenital Hypothyroidism in Very Low Birth Weight Infants: A Retrospective Cohort Study.
This retrospective cohort study analyzed perinatal risk factors for congenital hypothyroidism (CH) in 1073 very low birth weight (VLBW) infants (<1500 g) admitted to a neonatal intensive care unit. The overall CH incidence was 6.0% (65 cases), with significantly higher rates in extremely low birth weight (ELBW) infants (11.1%) and extremely preterm infants <28 weeks' gestation (11.3%). Multivariate analysis identified maternal thyroid disease (odds ratio [OR]: 2.12, 95% confidence interval [CI]: 1.10-4.12) and patent ductus arteriosus (OR: 2.25, 95% CI: 1.33-3.79) as independent risk factors, while higher birth weight showed a marginally protective effect (OR 0.998, 95% CI: 0.997-1.000). The elevated CH incidence among extremely preterm infants and those with lower birth weights highlights the needs for dynamic thyroid monitoring in VLBW populations, particularly when maternal thyroid disease is present. These findings justify risk-stratified surveillance protocols to facilitate early detection and optimize clinical management in high-risk neonates.
Congenital hypothyroidism and thyroid dysgenesis: importance of newborn bloodspot screening in Ireland.
Publicações recentes
[Retracted] MicroRNA-1236-3p/translationally controlled tumor protein (TPT1) axis participates in congenital hypothyroidism progression by regulating neuronal apoptosis.
Congenital or Juvenile-Onset Hypothyroidism Presenting in Adulthood: A Case Series.
Substrate for Thyroid Hormone Synthesis: Biochemistry, Evolution, and Physiology.
Exploring Metabolic Changes in Children with Congenital Hypothyroidism: A Serum Metabolomic Study Combined by Machine Learning.
Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.
📚 EuropePMC2.636 artigos no totalmostrando 196
Hearing assessment of Egyptian children with permanent congenital hypothyroidism: A single-center experience.
International journal of pediatric otorhinolaryngologyBirth Prevalence of Endocrine-Metabolic Disorders Detected by Newborn Screening Test in Pune (India) Population.
Indian journal of clinical biochemistry : IJCBA rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
Translational pediatricsRapid peptide analysis in dried bloodspots to identify novel markers for newborn screening for congenital hypothyroidism.
Scientific reportsFinnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis.
Thyroid : official journal of the American Thyroid AssociationEarly prediction of transient versus permanent congenital hypothyroidism: a retrospective cohort study.
Annals of pediatric endocrinology & metabolismAnalysis of epidemiological characteristics and associated factors of congenital hypothyroidism in Henan Province.
Scientific reportsNewborn screening for congenital hypothyroidism in France: a study of current professional practices.
European thyroid journalStructural and catalytic consequences of active-site vs. distal mutations in human dehalogenase: insights from molecular dynamics simulations.
Physical chemistry chemical physics : PCCPMethyltransferase like 3 promotes thyroid folliculogenesis via coordinating cell differentiation and polarization.
Journal of translational internal medicineIntegrated Newborn Screening in Nigeria: The Way Forward, A Workshop Report.
International journal of neonatal screeningAssociation between prenatal exposure to residential pyrethroid insecticides and congenital hypothyroidism using propensity score matching.
Scientific reportsCase report of breastfeeding after maternal iodine contrast: neonatal hypothyroidism revealing an underlying congenital disorder.
International breastfeeding journalCongenital hypothyroidism and thyroid dysgenesis: importance of newborn bloodspot screening in Ireland.
Irish journal of medical scienceEffect of timely diagnosis and treatment on growth and body proportionality of children with congenital hypothyroidism.
Frontiers in endocrinologyPredicting Pathogenicity of TSHR Missense Variants of Uncertain Significance: An Integrative Computational Study.
International journal of molecular sciencesCo-existence of Congenital Hypothyroidism (CH) and TBG-Excess in a Boy Causing Simultaneous Elevation in Thyroid Stimulating Hormone (TSH) and Thyroxine (T4) Levels: First Report from India and Review of the Literature.
Indian journal of clinical biochemistry : IJCBEvaluating cardiac echocardiographic changes with levothyroxine in hypothyroid patients: a systematic review and meta-analysis.
Frontiers in endocrinologyComparative Analysis of Hyperbilirubinemia Between Congenital Hypothyroidism and Euthyroidism in Neonates in Rawalpindi, Pakistan.
CureusHypothyroidism-Etiologies, Evaluation, and Emergency Care.
Endocrinology and metabolism clinics of North AmericaA Novel PTEN Frameshift Variant in a Child With Autism Spectrum Disorder and Macrocephaly: A Case Report.
CureusNewborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.
Journal of tropical pediatricsDYRK1A Expression and Thyroid Dysfunction in Subjects With Down Syndrome.
Clinical endocrinologyAir pollution and risk of autoimmune thyroid diseases in children and adolescents: Findings from a nationwide cohort study in Korea.
Ecotoxicology and environmental safetyPredicting congenital hypothyroidism in newborns with complex risk profiles by using thyroid-stimulating hormone variations across serial dried blood spots.
Clinical chemistry and laboratory medicineBeyond the Gut: Thyroxine Malabsorption, Pharmacokinetics, and Delivery.
The Journal of clinical endocrinology and metabolismDelayed Diagnosis of Ectopic Thyroid Due to Ignored Borderline Result of Newborn Screening for Congenital Hypothyroidism.
The American journal of case reportsPreterm heart failure and refractory lactic acidosis caused by congenital hypothyroidism: A case report and review of literature.
World journal of clinical casesIntegrating next-generation sequencing with biochemical screening to optimize first-tier newborn screening systems.
Human genomicsrs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation.
Frontiers in geneticsTransient congenital hypothyroidism with normal size thyroid caused by maternal thyrotropin receptor antibodies: a case report and literature review.
BMC pregnancy and childbirthEnhancing TSH-based congenital hypothyroidism screening using machine learning and resampling algorithms.
BMC medical informatics and decision making[Interpretation of the 2025 "Guidelines for the diagnosis and treatment of congenital hypothyroidism"].
Zhonghua yi xue za zhiConcomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome.
Case reports in endocrinologyPredictive Factors of Transient Congenital Hypothyroidism among Filipino Children: A Retrospective Study.
Acta medica PhilippinaIs the tracheal index useful for evaluating the thyroid in infants suspected of hypothyroidism?
Journal of pediatric endocrinology & metabolism : JPEMInvestigation of the Effects of Hypothyroidism Duration on Hearing Function: An Experimental Animal Study.
The Annals of otology, rhinology, and laryngologyRevealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.
Frontiers in endocrinologyEndoCompass Project: Research Roadmap for Thyroid Endocrinology.
Hormone research in paediatricsPrevalence of congenital hypothyroidism in infants of mothers with hypothyroidism: a meta-analysis.
Journal of pediatric endocrinology & metabolism : JPEMMolecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.
International journal of molecular sciencesUniversal Decentralized Cord Blood TSH Screening Should Be Offered as Routine Delivery Care in Limited-Resource Settings.
International journal of neonatal screeningCelebrating 50 Years of Nationwide Newborn Screening in Hungary-Review, Current Situation, and Future Directions.
International journal of neonatal screeningVariation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.
Frontiers in endocrinologyIncreasing prevalence of congenital hypothyroidism emerges as a growing concern in Jordan.
World journal of clinical pediatricsThe herculean illusion: congenital hypothyroidism masquerading as muscular dystrophy.
Acta neurologica BelgicaTapering Levothyroxine Dose for Intra-Amniotic Infusion in the Antenatal Treatment of Fetal Goiter: A Case Report.
Case reports in obstetrics and gynecologyCase Report: Hydroxychloroquine in an infant with NKX2-1-associated interstitial lung disease.
Frontiers in pediatricsGenetic Rescue of a Subset of Thyroid Follicular Cells Restores Thyroid Function in Dyshormonogenic Duoxa-/- Mice.
Thyroid : official journal of the American Thyroid AssociationIdentification of hub genes in congenital hypothyroidism and construction of the associated immune regulatory network.
Frontiers in immunologyIs there are relationship between polymorphisms TSHR gene frequencies and genetic ancestry markers in patients with Primary Congenital Hypothyroidism?
Genetics and molecular biologyCorrelation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.
International journal of neonatal screeningCongenital Hypothyroidism: Moving Ahead, but a Long Way Still to Go.
International journal of neonatal screeningITCH Deficiency Causing Immunodeficiency and Immune Dysregulation.
PediatricsCongenital Glaucoma in Patients with Neonatal Diabetes and Congenital Hypothyroidism (NDH) Syndrome.
Klinische Monatsblatter fur AugenheilkundeChallenge faced in diagnosis and treatment of congenital hypothyroidism presenting with isosexual puberty and bilateral ovarian mass in low and middle income country: a case report.
BMC endocrine disordersPrematurity 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 pediatricsEffects of iodine supplementation on thyroid function in children with mild congenital hypothyroidism and non-autoimmune subclinical hypothyroidism.
Journal of endocrinological investigationSevere Undiagnosed Congenital Hypothyroidism Due to Missed Newborn Screening.
JCEM case reportsImpact of Maternal Obesity on Neonatal TSH Levels: A Prospective Study on the Influence of BMI.
American journal of perinatologyFrequency of Congenital Hypothyroidism and Radiographic Assessment of Knee Epiphysis in Newborn.
Mymensingh medical journal : MMJCongenital hypothyroidism in two children affected by Sotos syndrome: a simple association?
Italian journal of pediatricsInitial Levothyroxine Dose and Neurodevelopmental Outcomes in Children with Congenital Hypothyroidism.
Indian journal of pediatricsFunctional Domain Mapping of TPO: Insights From 6 Variants in Sudanese Kindreds With Congenital Hypothyroidism.
The Journal of clinical endocrinology and metabolismCorrigendum to: Clinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.
Thyroid : official journal of the American Thyroid AssociationNewborn screening for rare diseases: expanding the paradigm in the genomic era.
Journal of perinatal medicineAltered carnitine-acylcarnitine profiles in levothyroxine-treated congenital hypothyroid patients with fatigue: An LC-MS/MS-based study from Bangladesh.
PloS oneCongenital Hypothyroidism Dysregulates TRPC6 to Mediate Abnormal Dendritic Spine Growth of Hippocampal Neurons.
CNS neuroscience & therapeuticsCatch-Up Growth in Children With Congenital Hypothyroidism on Thyroxine Therapy: A Retrospective Study.
Clinical endocrinologyAirway compression in a neonate with thyroid dyshormonogenesis due to SLC26A7 defect.
European journal of endocrinologyThe Burden of Congenital Hypothyroidism Without Newborn Screening: Clinical and Cognitive Findings from a Multicenter Study in Algeria.
International journal of neonatal screeningPermanent or Transient Congenital Hypothyroidism: A Diagnostic Dilemma.
Acta paediatrica (Oslo, Norway : 1992)Epidemiologic and clinical aspects of congenital hypothyroidism in Côte d'Ivoire, a country without systematic screening at birth.
Annales d'endocrinologiePrevalence of pendrin defects in sudanese families with congenital hypothyroidism.
EndocrineImproving Clinical Care for Children with Congenital Hypothyroidism.
Pediatric quality & safetyCongenital Hypothyroidism: Long-Term Growth and Intellectual Outcomes With a Lower Initial Levothyroxine Dose.
Clinical endocrinologyEffects of neonatal hypothyroidism on testicular development and undifferentiated spermatogonia in prepubertal rats.
AndrologyClinical and genetic characterization of Weaver syndrome: A case report of an EZH2 mutation and review of the literature.
MedicineClinical Outcomes of Congenital Hypothyroidism Due to DUOX2 Biallelic Mutations after Levothyroxine Withdrawal.
Thyroid : official journal of the American Thyroid AssociationCommentary on "Predictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study".
Annals of pediatric endocrinology & metabolismQuality of life in patients with overt hypothyroidism: a systematic review.
European journal of endocrinologyAssociation between Human Leukocyte Antigen Alleles and Endocrine Disorders in a Cohort of 895 Patients from Russian Clinical Population.
Biochemistry. BiokhimiiaPerinatal Factors Associated With Congenital Hypothyroidism in Very Low Birth Weight Infants: A Retrospective Cohort Study.
Clinical pediatricsPrimary congenital hypothyroidism: a clinical review.
Frontiers in endocrinologyIs It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases?
International journal of neonatal screeningIncidence of Congenital Hypothyroidism Is Increasing in Chile.
International journal of neonatal screeningA Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.
Reports (MDPI)Newborn Screening of the Endocrine System: Best Practices for Evaluation of Hypothyroidism and Congenital Adrenal Hyperplasia.
Clinics in perinatologyDominant-negative effects of Weaver syndrome-associated EZH2 variants.
Genes & developmentTiming of adiposity rebound in children with congenital hypothyroidism diagnosed by newborn screening and treated with Levothyroxine.
Italian journal of pediatricsDifferentiating transient and permanent congenital hypothyroidism: predictive clues from Istanbul, Türkiye.
Journal of pediatric endocrinology & metabolism : JPEMMeta-analysis of the effects of levothyroxine therapy for subclinical hypothyroidism during pregnancy on offspring outcomes.
Frontiers in pediatricsImplementation of Neonatal Screening Program for Congenital Hypothyroidism in Eastern Morocco.
International journal of neonatal screeningAssociational study of neonatal hearing screening results and common metabolic disorders.
International journal of pediatric otorhinolaryngology50 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 journalTriple Ectopic Thyroid Gland in a 4-Year-Old Child.
AACE endocrinology and diabetesImpact of Maternal and Neonatal Factors on Thyroid-Stimulating Hormone Concentrations in Newborns in Eastern Morocco.
CureusScreening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice.
Frontiers in endocrinologyPredicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism.
Annals of pediatric endocrinology & metabolismReconsidering the timing of levothyroxine discontinuation in children with congenital hypothyroidism: insights from a Korean Cohort Study - commentary on "Predicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism".
Annals of pediatric endocrinology & metabolismIodine and Hypothyroidism.
Endocrine, metabolic & immune disorders drug targetsEarly Mortalities From Inborn Errors of Metabolism Detected By Selective Screening in Malaysia.
Sage open pediatricsDiffuse infantile hepatic haemangioma and consumptive hypothyroidism: a clinical case with anaemia that raises suspicion.
Italian journal of pediatricsCongenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.
Ophthalmic genetics50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Management during pregnancy and long-term outcomes of adult patients with congenital hypothyroidism.
European thyroid journalMolecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association.
Clinica chimica acta; international journal of clinical chemistryLarge-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism.
European journal of endocrinologyThyroid function profiles in small versus appropriate for gestational age stable neonates with implications for screening cutoffs: a retrospective cross-sectional study.
The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal ObstetriciansDelayed Thyrotropin Rise in Preterm Newborns: Value of Multiple Screening Samples and of a Detailed Clinical Characterization.
Thyroid : official journal of the American Thyroid AssociationFunctional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ.
Hormone research in paediatricsTransient 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 medicineControlled fabrication of novel magneto-fluorescent encoded microspheres with host-guest structures for simultaneous detection of thyroxine and thyroid stimulating hormone.
Analytical methods : advancing methods and applicationsVariable expressivity of a transmitted pathogenic KAT6B variant.
European journal of medical geneticsGenomic Characterization of Papillary Thyroid Cancer Reveals Germline Mutations Associated With Congenital Hypothyroidism.
JCO global oncologyFunctional Thyroid Organoids-Powerful Stem Cell-Derived Models in Basic and Translational Research.
BiomoleculesCongenital Hypothyroidism: Usefulness of Technetium and Ultrasonogram of Thyroid.
Indian journal of endocrinology and metabolismScreening Blind Spot: Missing Preterm Infants in the Detection of Congenital Hypothyroidism.
International journal of neonatal screeningScreening for congenital hypothyroidism by using cord blood thyroid stimulating hormone (CBTSH) levels in neonates.
Journal of family medicine and primary careInvestigating TSHR gene variants in consanguineous families: novel insights into variable expression in familial congenital hypothyroidism.
Frontiers in endocrinologyAn Integrated Solution for Application of Next-Generation Sequencing in Newborn Screening.
Clinical laboratoryFrom deficiency to excess: the impact of iodine excess on reproductive health.
Frontiers in endocrinologyGenetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
International journal of molecular sciencesThyroglobulin (TG) gene variants in cases with congenital goiter.
Endocrine researchVaccine hesitancy among parents of children with chronic diseases of different pathophysiology: a cross-sectional study in Sivas, Türkiye.
BMC public healthAuthor Correction: Age of menarche and final height in patients with permanent congenital hypothyroidism.
Annals of pediatric endocrinology & metabolismEarly-Onset Inherited Metabolic Diseases: When Clinical Symptoms Precede Newborn Screening-Insights from Emilia-Romagna (Italy).
Children (Basel, Switzerland)Perinatal thyroid hormone deficiency leads to oxidative stress-induced neuronal damage and activation of astrocytes in rat hippocampus: Neuroprotective effect of exercise.
NeurosciencePhenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.
American journal of medical genetics. Part AThe Establishment of Expanded Newborn Screening in Rural Areas of a Developing Country: A Model from Health Regions 7 and 8 in Thailand.
International journal of neonatal screeningLiquid formulations of Levothyroxine with ethanol or with parabens for treatment of congenital hypothyroidism: similar TSH and fT4 values in the first 6 months of follow up.
EndocrineNeurodevelopmental Disorders, Cognitive Function, and Quality of Life in Children with Congenital Hypothyroidism in a Portuguese Population.
Journal of clinical research in pediatric endocrinologyScreening and Functional Analysis of TPO Gene Mutations in Patients With Congenital Hypothyroidism.
Clinical geneticsUnrecognized constellation of multiple congenital anomalies in a newborn: a rare case report.
Annals of medicine and surgery (2012)Imaging findings of thyroid diseases in children.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyAdiposity rebound and body mass index in Japanese patients with congenital hypothyroidism.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyCONGENITAL HYPOTHYROIDISM: FROM THEORY TO PRACTICE - A CLINICAL CASE.
Georgian medical newsSimplifying Strategies to Enable Universal, Decentralized Cord Blood TSH Screening: Lessons from a Tertiary Care Center in North India.
Indian pediatricsPseudohypoparathyroidism: Challenges in Early Recognition and Diagnosis of a Rare Hereditary Disorder.
CureusPrevalence of Congenital Hypothyroidism and Efficacy of Current Cord Sample Screening in the Presence of Metabolic Screening: A Retrospective Cohort Study.
CureusPredictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study.
Annals of pediatric endocrinology & metabolismGenetics of primary congenital hypothyroidism: three decades of discoveries and persisting etiological challenges.
European thyroid journalMetabolite biomarkers of screening neonatal congenital hypothyroidism based on dried blood spot metabolomics.
Analytical and bioanalytical chemistryCongenital Hypothyroidism, Withdrawal of Thyroxin Supplementation, and Heart Failure in Dilated Cardiomyopathy: Case Report and Review of Literature.
Annals of African medicineGenetic and functional analysis of TUBB1 variants in congenital hypothyroidism.
Endokrynologia PolskaMedication Adherence of Children with Congenital Hypothyroidism in Iran: A National Cross-Sectional Study.
International journal of endocrinology and metabolismEstablishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSPNeonatal screening for congenital hypothyroidism: 28-year experience in the state of Minas Gerais, Brazil.
Jornal de pediatriaNewborn screening for primary congenital hypothyroidism: past, present and future.
European thyroid journalImplementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital.
BMJ public healthMolecular detection of a novel mutation in the TPO gene associated with congenital hypothyroidism in a cat: Case report.
Journal of advanced veterinary and animal researchExploring the Muscle-to-Fat Ratio of Pediatric Patients with Thyroid Disorders and Its Interaction with Thyroid Function and Metabolic Syndrome Components.
Journal of clinical medicineEfficacy of levothyroxine on growth and development in children with congenital hypothyroidism: A meta-analysis.
MedicineCommon and Rare DUOX Variants in Patients With Congenital Hypothyroidism: Case-control Study and Family-based Analysis.
The Journal of clinical endocrinology and metabolismEstablishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene.
Stem cell researchSeventh ISNS Reference Preparation for Neonatal Screening for Thyroid Stimulating Hormone, Phenylalanine, and 17α-Hydroxyprogesterone in Blood Spots.
International journal of neonatal screeningNewborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.
International journal of neonatal screeningMinimally Humanized Ezh2 Exon-18 Mouse Cell Lines Validate Preclinical CRISPR/Cas9 Approach to Treat Weaver Syndrome.
Human gene therapyCo-Occurrence of Sotos Syndrome and Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in 2 Patients.
JCEM case reportsTo Study the Iodine Concentration of Mothers' Consumed Salt, Water, and Staple Food in the Neonatal Screening Program of Rural and Urban Vidarbha Region.
Journal of pharmacy & bioallied sciencesTo Study the Thyroid Hormone Levels in Neonates of Rural and Urban Vidarbha Region.
Journal of pharmacy & bioallied sciencesThe lived experience of migrant Syrian mothers' interaction with the neonatal screening program.
BMC public healthPredictive value of technetium-99m sodium pertechnetate thyroid scintigraphy in determining the permanence of congenital hypothyroidism.
Journal of clinical imaging scienceNewborn screening for central congenital hypothyroidism: past, present and future.
European thyroid journalTwo Novel SLC5A5 Variants (Q263L and G350D) Causing Congenital Hypothyroidism.
Thyroid : official journal of the American Thyroid AssociationHypothyroid-induced hyponatraemia in a premature infant with a false-negative newborn screening for congenital hypothyroidism.
BMJ case reportsAttitudes Towards the Management of Congenital Hypothyroidism in Türkiye: National Survey Study.
Journal of clinical research in pediatric endocrinologyAcquired hypothyroidism, iodine status and hearing impairment in adults: A pilot study.
PloS oneThe Role of Neck Ultrasonography and Nuclear Imaging in the Diagnosis of Congenital Hypothyroidism.
Indian journal of endocrinology and metabolismCentral congenital hypothyroidism due to TSHB gene mutation: 25-year follow-up.
BMJ case reportsPseudohypoparathyroidism type 1A presenting as short stature and congenital hypothyroidism.
Endocrinology, diabetes & metabolism case reportsA study on neurodevelopmental outcomes in infants with congenital hypothyroidism highlights the importance of periodic developmental assessment.
Jornal de pediatriaClinical and Demographic Factors Associated with a Delayed Thyroid-Stimulating Hormone Rise in Infants with Congenital Hypothyroidism: A Retrospective Review of a 10-Year Cohort in Indiana.
Hormone research in paediatricsClinical Insight into Congenital Hypothyroidism Among Children.
Children (Basel, Switzerland)Newborn screening and the screening laboratory: past, present and future.
European thyroid journalSerum Neudesin Levels in Patients with Congenital Hypothyroidism.
Journal of clinical research in pediatric endocrinologyParent Reports of Developmental Service Utilization After Newborn Screening.
International journal of neonatal screeningCONGENITAL HYPOTHYROIDISM SCREENING RESULTS IN THE TURKISH PROVINCE OF ADIYAMAN IN 2015-2020.
Acta endocrinologica (Bucharest, Romania : 2005)Congenital hypothyroidism and associated visual-motor and intellectual development.
Pediatric researchRecovery from Atrophic Autoimmune Thyroiditis in a Child: Thyroid Stimulation-Blocking Antibody as a Prognostic Marker.
Hormone research in paediatricsSeasonal Fluctuation in the Incidence of Congenital Hypothyroidism Across Different Temperate Zones of China.
Birth defects researchUnbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism.
Molecular genetics and metabolism reportsNewborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start.
European thyroid journalHypertensive disorders of pregnancy affected thyroid hormone synthesis via endoplasmic reticulum stress in preterm infant rats.
HeliyonDigenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenesis: HYPOTYGEN Translational Cohort Study.
The Journal of clinical endocrinology and metabolismAge of menarche and final height in patients with permanent congenital hypothyroidism.
Annals of pediatric endocrinology & metabolismGrowth Outcomes and Final Height in Children with Acquired Hypothyroidism: A Systematic Review.
Children (Basel, Switzerland)Transient hypothyroidism in a neonate following maternal exposure to vinblastine during pregnancy: a case report and review.
Frontiers in pediatricsFunctional characterization of novel compound heterozygous missense SLC5A5 gene variants causing congenital dyshormonogenic hypothyroidism.
Frontiers in endocrinologyLEVOTHYROXINE-SIMETHICONE DRUG INTERACTION AND PRESENCE OF MACRO-TSH IN AN INFANT WITH CONGENITAL HYPOTHYROIDISM.
Acta endocrinologica (Bucharest, Romania : 2005)Typical endocrine disrupting chemicals in newborns with congenital hypothyroidism: Concentrations, exposure assessment, and potential risks.
Journal of hazardous materialsNewborn Screening for Six Primary Conditions in a Clinical Setting in Morocco.
International journal of neonatal screeningNewborn Genetic Screening Improves the Screening Efficiency for Congenital Hypothyroidism: A Prospective Multicenter Study in China.
International journal of neonatal screeningMutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.
Biomedical reportsDiagnostic Utility of Cord Thyroid-Stimulating Hormone (TSH) in Congenital Hypothyroidism and Its Association With Perinatal Factors: A Study From a Tertiary Referral Centre in Hyderabad, India.
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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.
- A rare case report of familial glucocorticoid deficiency type 4 (GCCD4) with dilated cardiomyopathy: a 3-year follow-up study.
- Predicting Pathogenicity of TSHR Missense Variants of Uncertain Significance: An Integrative Computational Study.
- Newborn screening in an Eastern Indian province: prevalence and trends from a burgeoning newborn screening unit.
- Perinatal Factors Associated With Congenital Hypothyroidism in Very Low Birth Weight Infants: A Retrospective Cohort Study.
- Congenital hypothyroidism and thyroid dysgenesis: importance of newborn bloodspot screening in Ireland.
- [Retracted] MicroRNA-1236-3p/translationally controlled tumor protein (TPT1) axis participates in congenital hypothyroidism progression by regulating neuronal apoptosis.
- Congenital or Juvenile-Onset Hypothyroidism Presenting in Adulthood: A Case Series.
- Substrate for Thyroid Hormone Synthesis: Biochemistry, Evolution, and Physiology.
- Exploring Metabolic Changes in Children with Congenital Hypothyroidism: A Serum Metabolomic Study Combined by Machine Learning.
- Congenital hypothyroidism with preserved fifth digits in SMARCA4-related Coffin-Siris syndrome: a case report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:442(Orphanet)
- MONDO:0018612(MONDO)
- Hipotiroidismo Congenito(PCDT · Ministério da Saúde)
- GARD:1487(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q531012(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
