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1.
Salud(i)ciencia (Impresa) ; 24(5): 238-244, mar.-abr. 2021. tab.
Article in Spanish | LILACS, BINACIS | ID: biblio-1283917

ABSTRACT

Se realizó una revisión narrativa sobre la genética del hipotiroidismo congénito (HC). Se utilizaron las bases de datos Medline/PubMed, LILACS-BIREME y SciELO. Se identificaron los estudios originales publicados entre 2000 y agosto de 2020. Las palabras clave utilizadas durante la búsqueda fueron las siguientes: "hipotiroidismo congénito (congenital hypothyroidism)", "genética (genetic)", "polimorfismos de nucleótido único (SNP) (single polymorphisms nucleotid)". Se revisaron 58 estudios originales que informan las bases moleculares del HC. Se ha definido el concepto básico del HC, así como las bases moleculares que están asociados con la aparición de dicho trastorno. La revisión de la literatura ha permitido identificar al menos 12 genes que codifican las proteínas, las cuales, al producirse mutaciones, están implicadas en el HC. De los 12 genes informados que desempeñan un papel importante en el HC, errores en 6 genes se han vinculado con el HC con disgenesia tiroidea, lo cual implica alteraciones en la morfogénesis de la glándula tiroides, mientras que mutaciones en otros 6 genes se han asociado con dishormonogénesis, que genera un bloqueo total o parcial de los procesos bioquímicos implicados en la síntesis y secreción de hormonas tiroideas. La prevalencia en Sudamérica varía aproximadamente desde 1 por cada 1170 hasta 1 por cada 8285 neonatos. El estudio de la genética molecular pone de manifiesto que, en el futuro, aportará datos importantes en cuanto a la identificación de nuevas mutaciones y asociaciones con fenotipos clínicos que podrían relacionarse con el HC, para, de esta manera, potenciar el diagnóstico y tratamiento


A narrative review was conducted on the genetics of congenital hypothyroidism. The Medline/PubMed, LILACS-BIREME, and SciELO databases were used. Original studies published between 2000 and August 2020 were identified. The keywords used during the search were as follows: "congenital hypothyroidism", "genetics", "polymorphisms SNPs". Fifty-eight original studies reviewing the molecular basis of congenital hypothyroidism were reviewed. The basic concept of congenital hypothyroidism has been defined as well as the molecular bases that are associated with the development of this disorder. The literature review has identified at least 12 genes encoding proteins that, when mutations occur, are involved in congenital hypothyroidism. Of the 12 genes reported to play an important role in congenital hypothyroidism, errors in 6 genes have been associated with congenital hypothyroidism with thyroid dysgenesis, which implies alterations in the morphogenesis of the thyroid gland. On the other hand, mutations in 6 other genes have been associated with dyshormonogenesis that generates a total or partial blockage of the biochemical processes involved in the synthesis and secretion of thyroid hormones. The prevalence in South America is reported to vary from approximately 1 per 1000 to 1 per 8000 newborns. The study of molecular genetics shows that in the future it will contribute to the identification of new mutations and associations with clinical phenotypes that could be related to congenital hypothyroidism, thus enhancing diagnosis and treatment


Subject(s)
Therapeutics , Thyroid Gland , Thyroid Hormones , Epidemiology , Congenital Hypothyroidism , Genes , Genetics , Databases, Bibliographic
2.
Gac. méd. Méx ; 157(2): 140-146, mar.-abr. 2021. tab
Article in Spanish | LILACS | ID: biblio-1279093

ABSTRACT

Resumen Introducción: La historia familiar de enfermedad tiroidea (HFET) como factor de riesgo para hipotiroidismo congénito (HC), en síndrome de Down (SD) aún no ha sido explorada. Objetivo: Determinar si la HFET está asociada a mayor riesgo de HC en neonatos con SD. Método: Estudio de casos y controles en 220 neonatos con SD. Se compararon las pruebas de función tiroidea (PFT) de 37 con SD e HFET (casos), frente a las PFT de 183 recién nacidos con SD sin HFET (grupo de referencia). Se realizó análisis de regresión logística multivariante y se calculó la razón de momios (RM) y sus respectivos intervalos de confianza del 95 % (IC 95 %). Resultados: Nueve casos HC (4.1 %). El HC mostró asociación con la HFET (RMa = 8.3, IC 95 %: 2.0-34.3), particularmente en los varones (RMa = 9.0, IC 95 %: 1.6-49.6). La ausencia de HFET tuvo una RM de protección para HC (RMa = 0.4, IC 95 %: 0.1-0.8). Conclusiones: La HFET puede es una estrategia fácil y accesible para identificar pacientes con SD con mayor riesgo de HC.


Abstract Introduction: Family history of thyroid disease (FHTD) as risk factor for congenital hypothyroidism (CH) in patients with Down syndrome (DS) has not yet been explored. Objective: To determine whether FHTD is associated with an increased risk for CH in DS. Method: Case-control study in 220 neonates with DS. Thyroid function tests of 37 infants with DS and FHTD (cases) were compared with those of 183 DS newborns without FHTD (reference group). Data were analyzed using multivariate logistic regression analysis and adjusted odds ratios (aORs) with their respective 95 % confidence intervals (CI) were calculated. Results: Nine newborns with DS in our sample had CH (4.1 %). FHTD showed an association with CH in neonates with DS (aOR = 8.3, 95 % CI: 2.0-34.3), particularly in males (aOR = 9.0, 95 % CI: 1.6-49.6). In contrast, newborns with DS without FHTD were less likely to suffer from CH (aOR = 0.4, 95 % CI: 0.1-0.8). Conclusions: FHTD detailed evaluation can be an easy and accessible strategy to identify those newborns with DS at higher risk for CH.


Subject(s)
Humans , Male , Female , Infant, Newborn , Thyroid Diseases/genetics , Family Health , Down Syndrome/complications , Congenital Hypothyroidism/etiology , Thyroid Function Tests/statistics & numerical data , Sex Factors , Epidemiologic Methods , Congenital Hypothyroidism/epidemiology
3.
Article in Chinese | WPRIM | ID: wpr-879885

ABSTRACT

OBJECTIVE@#To investigate the risk factors for congenital hypothyroidism (CH) in neonates, and to provide a reference for the prevention of CH.@*METHODS@#The databases including China Biomedical Literature Service System, China National Knowledge Infrastructure, Wanfang Data, and Weipu Periodical Database, PubMed, Web of Science, Embase, SpringerLink, and Elsevier/ScienceDirect were searched for studies on the risk factors for CH in neonates published up to August 1, 2020. R 3.6.2 and RevMan 5.3 software were used to perform a Meta analysis.@*RESULTS@#A total of 20 studies were included, with 13 case-control studies and 7 cross-sectional studies. There were 11 564 neonates in total, with 3 579 neonates in the case group and 7 985 neonates in the control group. The Meta analysis showed that advanced maternal age (@*CONCLUSIONS@#Advanced maternal age, gestational thyroid disease, gestational diabetes mellitus, anxiety, medication during pregnancy, radiation exposure during pregnancy, family history of thyroid disease, low birth weight, fetal macrosomia, preterm birth, post-term birth, twin pregnancy or multiple pregnancy, and birth defects may increase the risk of CH in neonates.


Subject(s)
China , Congenital Hypothyroidism/etiology , Cross-Sectional Studies , Female , Humans , Infant, Newborn , Pregnancy , Premature Birth , Risk Factors
4.
Article in Chinese | WPRIM | ID: wpr-879626

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3).@*CONCLUSION@#The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.


Subject(s)
Blepharophimosis , Child , Congenital Hypothyroidism , Facies , Female , Heart Defects, Congenital , Histone Acetyltransferases/genetics , Humans , Intellectual Disability , Joint Instability , Mutation , Phenotype
5.
Chinese Medical Journal ; (24): 2223-2230, 2021.
Article in English | WPRIM | ID: wpr-887622

ABSTRACT

BACKGROUND@#Although congenital hypothyroidism (CH) has been widely studied in Western countries, CH incidence at different administrative levels in China during the past decade remains unknown. This study aimed to update the incidence and revealed the spatial pattern of CH incidence in the mainland of China, which could be helpful in the planning and implementation of preventative measures.@*METHODS@#The data used in our study were derived from 245 newborns screening centers that cover 30 provinces of the Chinese Newborn Screening Information System. Spatial auto-correlation was analyzed by Global Moran I and Getis-Ord Gi statistics at the provincial level. Kriging interpolation methods were applied to estimate a further detailed spatial distribution of CH incidence at city level throughout the mainland of China, and Kulldorff space scanning statistical methods were used to identify the spatial clusters of CH cases at the city level.@*RESULTS@#A total of 91,921,334 neonates were screened from 2013 to 2018 and 42,861 cases of primary CH were identified, yielding an incidence of 4.66 per 10,000 newborns screened (95% confidence interval [CI]: 4.62-4.71). Neonates in central (risk ratio [RR] = 0.84, 95% CI: 0.82-0.85) and western districts (RR = 0.71, 95% CI: 0.69-0.73) had lower probability of CH cases compared with the eastern region. The CH incidence indicated a moderate positive global spatial autocorrelation (Global Moran I value = 0.394, P  < 0.05), and the CH cases were significantly clustered in spatial distribution. A most likely city-cluster (log-likelihood ratio [LLR] = 588.82, RR = 2.36, P  < 0.01) and 25 secondary city-clusters of high incidence were scanned. The incidence of each province and each city in the mainland of China was estimated by kriging interpolation, revealing the most affected province and city to be Zhejiang Province and Hangzhou city, respectively.@*CONCLUSION@#This study offers an insight into the space clustering of CH incidence at provincial and city scales. Future work on environmental factors need to focus on the effects of CH occurrence.


Subject(s)
China/epidemiology , Cluster Analysis , Congenital Hypothyroidism/epidemiology , Humans , Incidence , Infant, Newborn , Retrospective Studies , Spatial Analysis
7.
Rev. Ciênc. Méd. Biol. (Impr.) ; 19(4): 591-596, dez 30, 2020. tab, ilus
Article in Portuguese | LILACS | ID: biblio-1355173

ABSTRACT

Introdução: o hipotireoidismo congênito (HC) pode causar danos nas estruturas do sistema vestibular ocasionando sintomas de tontura que pode acarretar em implicações nas habilidades linguísticas e acadêmicas dos indivíduos. Objetivo: verificar a ocorrência de queixas de tontura em crianças com HC e as suas implicações nos aspectos comunicativos e desempenho acadêmico por meio de uma entrevista estruturada com os cuidadores. Metodologia: estudo exploratório de caráter descritivo, seccional, realizado no município de Salvador, sendo incluídos crianças de ambos os sexos, com diagnóstico de hipotireoidismo congênito e idade entre 5 a 10 anos. Os dados foram coletados entre 2014 a 2018 em um Serviço de Referência em Triagem Neonatal no Estado da Bahia. Para avaliar as variáveis qualitativas foi utilizado o teste qui-quadrado e para as variáveis quantitativas foi utilizado o teste t-student, adotando nível de significância de 5%. Resultados: os indivíduos com disgenesia apresentaram uma frequência de 64% de queixas relacionadas a tontura. Verificou-se uma frequência considerável de dificuldade nas competências de escrita e com perfil comunicativo de maior relevância para a habilidade de conversação por meio de frases curtas. Conclusão: os achados sugerem que a presença de queixas de tontura nos os indivíduos com HC pode predispor a insucessos nos aspectos acadêmicos e comunicativos.


Introduction: congenital hypothyroidism (CH) can damage the structures of the vestibular system, causing dizziness symptoms that can have implications for the linguistic and academic skills of individuals. Objective: to verify the occurrence of dizziness complaints in children with CH and its implications for communicative aspects and academic performance through a structured interview with caregivers. Methodology: an exploratory, descriptive, sectional study carried out in the city of Salvador, including children of both sexes, diagnosed with congenital hypothyroidism and aged between 5 and 10 years. Data were collected between 2014 and 2018 at a Neonatal Screening Reference Service in the State of Bahia. To assess qualitative variables, the chi-square test was used and for quantitative variables, the t-student test was used, adopting a significance level of 5%. Results: individuals with dysgenesis had a frequency of 64% of complaints related to dizziness. There was a considerable frequency of difficulty in writing skills and with a communicative profile of greater relevance to the ability to converse through short sentences. Conclusion: the findings suggest that the presence of complaints of dizziness in individuals with CH may predispose to failures in academic and communicative aspects.


Subject(s)
Humans , Male , Female , Child , Communication , Congenital Hypothyroidism , Dizziness , Academic Performance , Epidemiology, Descriptive , Cross-Sectional Studies
8.
Rev. chil. pediatr ; 91(3): 398-404, jun. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1126178

ABSTRACT

Resumen: Introducción: Las masas congénitas de cabeza y cuello se asocian a asfixia perinatal e injuria cerebral con elevada mortalidad. La técnica EXIT (Ex Útero Intrapartum Treatment) consiste en asegurar la vía aérea del neonato, sin interrumpir la oxigenación y perfusión materno-fetal a través del soporte placentario. Esta técnica no ha sido estandarizada en países de medianos ingresos. Objetivo: Describir el caso clínico de 2 neonatos manejados mediante la técnica EXIT. Caso Clínico: Se reportan dos casos, uno con malformación linfática diagnosticada a la semana 20 gestación y el segundo con tiromegalia y polihidramnios diagnosticados a la semana 35 de gestación. En ambos casos, duran te la cesárea se realizó la técnica EXIT con un equipo conformado por neonatólogo, ginecólogo, anestesiólogo, cirujano pediatra, otorrinolaringólogo, enfermero y terapeuta respiratorio. En los dos pacientes se logró asegurar la vía aérea mediante intubación orotraqueal al primer intento. En el caso 1 se confirmó la malformación linfática y recibió escleroterapia, y en el caso 2 se diagnosticó hipotiroidismo congénito asociado a bocio, que fue manejado con levotiroxina. Los pacientes se mantuvieron 7 y 9 días con ventilación mecánica invasiva respectivamente y egresaron sin complicaciones respiratorias. Conclusiones: La técnica EXIT en estos casos fue un procedimiento seguro, llevado a cabo sin inconvenientes. Se necesita un equipo multidisciplinario y la disponibilidad de una unidad de cuidados intensivos neonatales, con el objetivo de reducir potenciales complica ciones y garantizar el manejo postnatal. Para lograr su ejecución, es indispensable el diagnóstico prenatal oportuno.


Abstract: Introduction: Congenital head and neck masses are associated with perinatal asphyxia and brain injury, increasing the risk of death. The EXIT (Ex Utero Intrapartum Treatment) technique con sists of ensuring the newborn's airway while is still receiving placental support. This technique has not been standardized in developing countries. Objective: To describe the clinical outcomes of two infants who underwent the EXIT technique. Clinical Case: We present two cases, one with lymphatic malformation diagnosed at 20 weeks of gestational age (WGE) and the second one, a preterm newborn with thyromegaly and polyhydramnios, diagnosed at 35 WGE. In both cases, during the C-section, the EXIT technique was performed with a team of a neonatologist, a gyne cologist, an anesthesiologist, a pediatric surgeon, an otolaryngologist, a nurse, and a respiratory therapist. In both patients, the neonatologist achieved to secure the airway through orotracheal intubation at the first attempt. In the first case, lymphatic malformation was confirmed and re ceived sclerotherapy, and the second one was diagnosed with congenital hypothyroidism which was managed with levothyroxine. The patients needed invasive mechanical ventilation for 7 and 9 days, respectively, and were discharged without respiratory complications. Conclusions: In these patients, the EXIT technique was a safe procedure, carried out without inconvenience. A multi disciplinary approach and the availability of a neonatal intensive care unit are needed to reduce potential complications and ensure postnatal management. Timely prenatal diagnosis is essential to perform this technique.


Subject(s)
Humans , Male , Female , Pregnancy , Infant, Newborn , Thyroid Gland/pathology , Cesarean Section , Perinatal Care/methods , Congenital Hypothyroidism/therapy , Lymphatic Abnormalities/therapy , Airway Management/methods , Prenatal Diagnosis , Colombia , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/pathology , Lymphatic Abnormalities/diagnosis , Tertiary Care Centers , Hypertrophy/diagnosis , Hypertrophy/therapy , Neck
9.
CoDAS ; 32(1): e20190017, 2020. tab
Article in Portuguese | LILACS | ID: biblio-1055896

ABSTRACT

RESUMO Objetivo Comparar o desempenho das habilidades motora grossa, motora fina-adaptativa, linguagem, cognitiva e pessoal-social de meninas entre 36 e 70 meses com hipotireoidismo congênito tratado no período pós-natal com seus pares sem alterações tireoidianas. Método Participaram 15 meninas com diagnóstico de hipotireoidismo congênito, com idade cronológica variando de 36 a 70 meses no Grupo Experimental (GE); e 15 meninas sem alterações tireoidianas no Grupo Comparativo (GC), pareadas por idade cronológica e nível socioeconômico. Os instrumentos de avaliação utilizados foram: Entrevista com os pais; Teste de Vocabulário por Imagem Peabody (TVIP-R); e Teste de Triagem do Desenvolvimento de Denver II (TTDD-II). Foi realizada a avaliação psicológica, quanto ao nível intelectual, com a aplicação da Stanford-Binet Intelligence Scale (SBIS). A estatística foi realizada por meio de análise descritiva, teste "t" de Student e Teste de Mann-Whitney, nível de significância de p <5%. Resultados Na comparação do TVIP-R e SBIS, houve diferença estatisticamente significante entre o GE e o GC. Na comparação entre as áreas do TTDD-II, houve diferença estatisticamente significante entre os grupos para as áreas de Linguagem, Motora Grossa e Motora Fina-Adaptativa. Conclusão O presente estudo confirmou a interferência do Hipotireoidismo Congênito no desenvolvimento infantil, mesmo quando diagnosticado e tratado precocemente, levando a mudanças no desenvolvimento que podem trazer prejuízos nas áreas motora, cognitiva e linguística.


ABSTRACT Objective To compare the performance in gross motor, fine motor-adaptive, language, cognitive and personal-social development skills of girls with a mean age of 36 to 71 months with Congenital Hypothyroidism treated from the neonatal period with that of their peers without thyroid alterations. Methods The participants included in the study were 30 children aged between 36 and 70 months divided into two groups paired for chronological age and socioeconomic status: 15 girls diagnosed with Congenital Hypothyroidism - Experimental Group (EG) and 15 girls without thyroid changes - Control Group (CG). The following assessment instruments were used: Interview with parents, Peabody Picture Vocabulary Test - Revised (PPVT-R), and Denver Developmental Screening Test - 2nd edition (DDST-II). Psychological testing of intellectual functioning was conducted with application of the Stanford-Binet Intelligence Scale (SBIS). The descriptive statistical analysis was performed using Student's t-test and the Mann-Whitney test at a significance level of 5% (p<0.05). Results Comparison of the PPVT-R and SBIS results showed a statistically significant difference between the EG and CG. Comparison of the DDST-II results showed a statistically significant difference between the groups for the fine motor-adaptive, language and gross motor areas. Conclusion The present study confirms that Congenital Hypothyroidism affects child development, even when children are diagnosed and treated early, leading to alterations that can impair their motor, cognitive and language development.


Subject(s)
Humans , Female , Child, Preschool , Child , Child Language , Cognition Disorders , Congenital Hypothyroidism/physiopathology , Motor Skills/physiology , Case-Control Studies , Child Development , Cognition , Social Skills , Language Development
10.
Article in Chinese | WPRIM | ID: wpr-781698

ABSTRACT

OBJECTIVE@#To study the association of related maternal factors with the susceptibility to congenital hypothyroidism (CH) in neonates.@*METHODS@#A case-control study was designed. The neonates who were diagnosed with CH in Neonatal Screening Center of Henan Province from January 1, 2016 to December 31, 2017 were enrolled as cases. Healthy neonates, matched for sex and age were enrolled as controls. A conditional logistic regression analysis and additive and multiplicative interaction analyses were used to identify the risk factors for susceptibility to CH.@*RESULTS@#A total of 2 771 661 neonates were screened during this period, among whom 1 494 neonates were diagnosed with CH, with a crude incidence rate of 53.9/100 000. A total of 843 pairs of the cases and the controls completed the telephone survey and provided qualified data. The conditional logistic regression analysis showed that an older maternal age at delivery, a low educational level in mothers, living in the rural area, a family history of thyroid diseases, histories of exposure to formaldehyde during pregnancy, exposure to radiation during pregnancy, and medication during pregnancy, were risk factors for CH (P<0.05), while low maternal age at delivery and progesterone intake during pregnancy were protective factors against CH (P<0.05).@*CONCLUSIONS@#An older maternal age at delivery, a low educational level in mothers, living in the rural area, a family history of thyroid diseases, and histories of exposure to formaldehyde during pregnancy, exposure to radiation during pregnancy and medication during pregnancy may increase the susceptibility to CH in neonates.


Subject(s)
Case-Control Studies , Congenital Hypothyroidism , Female , Humans , Infant, Newborn , Maternal Age , Neonatal Screening , Pregnancy , Risk Factors
11.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 37(4): 520-524, Oct.-Dec. 2019. tab, graf
Article in English | LILACS | ID: biblio-1041362

ABSTRACT

ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.


RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12 anos depois e detectou uma mutação recorrente (c.373delT) no gene TSHB. Os pais e a irmã eram portadores do alelo mutante. Comentários: A mutação c.373delT já foi relatada em pacientes do Brasil, da Alemanha, da Bélgica, dos Estados Uinidos, da Suíça, da Argentina, da França, de Portugal, do Reino Unido e da Irlanda. Em resumo, nosso caso e outros relatados na literatura reforçam a teoria de que essa mutação pode ser uma causa comum de deficiência isolada de TSH. A deficiência isolada de TSH não é detectada na triagem neonatal com base na dosagem de TSH, representando um desafio clínico. Portanto, quando possível, o estudo genético molecular é indicado. A identificação dos afetados e dos portadores permite o diagnóstico, o tratamento e o aconselhamento genético adequado.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child , Adult , Neonatal Screening , Congenital Hypothyroidism/diagnosis , Thyrotropin, beta Subunit/genetics , Delayed Diagnosis , Mutation , Genetic Markers , Congenital Hypothyroidism/genetics
12.
Odovtos (En línea) ; 21(3): 45-51, Sep.-Dec. 2019. graf
Article in English | LILACS, BBO | ID: biblio-1091491

ABSTRACT

ABSTRACT Congenital hypothyroidism is a metabolic disorder that requires special health care interventions. It has influence in overall growth and oral conditions in pediatric patients, and also can affect child cooperation during dental treatment because this metabolic condition is the most common preventable cause of mental retardation. The aim of this paper is to report the dental treatment of a child with congenital hypothyroidism who is four years and five months old, with many facial and oral characteristics of the metabolic condition, including severe early childhood caries and malocclusion. At first, it was observed a lack of cooperation of the patient with speech and learning impairment, but with the help of the Pedagogy team at the Pediatric Dental Clinic Playroom, he developed confidence and diminished anxiety every appointment. We present the follow-up during 15 months, where we could observe favorable outcomes in oral health and compliance of the child.


RESUMEN El hipotiroidismo congénito es una alteración metabólica que representa una necesidad especial en salud. Tiene influencia en el crecimiento general y las condiciones orales de los pacientes pediátricos, así como también puede afectar en el grado de cooperación del niño durante la consulta porque esta condición metabólica es la causa prevenible más común de retraso mental. El propósito de este artículo es reportar el tratamiento odontológico de un niño con hipotiroidismo congénito de cuatro años y cinco meses de edad, con varias características de la condición metabólica, incluyendo caries de la infancia temprana severa y maloclusión. Al principio se observó una falta de cooperación por parte del paciente, con dificultades para el habla y el aprendizaje, pero con la ayuda del equipo pedagógico de la Sala Lúdica, el niño desarrolló confianza con disminución de la ansiedad en cada cita. Presentamos un seguimiento a lo largo de 15 meses, donde hemos observado resultados favorables en la salud oral y en el comportamiento del paciente.


Subject(s)
Humans , Male , Child, Preschool , Oral Health , Congenital Hypothyroidism/therapy , Pediatric Dentistry , Games, Recreational/psychology
13.
Rev. Bras. Saúde Mater. Infant. (Online) ; 19(2): 431-437, Apr.-June 2019. tab
Article in English | LILACS | ID: biblio-1013136

ABSTRACT

Abstract Objectives: to verify if there is an association between socioeconomic factors and adherence to treatment in congenital hypothyroidism and to verify if there is an association between socioeconomic factors and vestibulocochlear symptoms noticed by parents/caregivers of children diagnosed with congenital hypothyroidism. Methods: a cross-sectional, exploratory and descriptive study, with a convenience sample. The sample consisted of 108 children with clinical and laboratory diagnosis of congenital hypothyroidism, of both sexes, aged ≥ 5 years. The researchers applied a structured questionnaire to parents/caregivers, consisting of closed and objective questions about the presence or absence of tinnitus, hearing loss and dizziness/vertigo in children with congenital hypothyroidism. Results: There was no association between socioeconomic factors and adherence to treatment or perception of cochlear-vestibular symptoms. Conclusions: socioeconomic factors did not influence treatment adherence or perceived cochlear-vestibular symptoms by caregivers of children with congenital hypothyroidism.


Resumo Objetivos: verificar se existe associação entre fatores socioeconômicos e adesão ao tratamento no hipotireoidismo congênito e verificar se existe associação entre fatores socioeconômicos e sintomas vestibulococleares percebidos pelos pais / cuidadores de crianças diagnosticadas com hipotireoidismo congênito. Métodos: estudo transversal, exploratório e descritivo, com amostra de conveniência. A casuística foi composta por 108 crianças com diagnóstico clínico e laboratorial de hipotireoidismo congênito, de ambos os sexos com idade ≥ 5 anos. Foi aplicado um questionário estruturado para os pais/cuidadores, formado por questões fechadas e objetivas sobre a presença ou ausência de zumbido, hipoacusia e tontura/vertigem nas crianças com hipotireoidismo congênito. Resultados: não houve associação entre fatores socioeconômicos e adesão ao tratamento ou percepção dos sintomas cócleo-vestibulares. Conclusões: os fatores socioeconômicos não influenciaram na adesão ao tratamento nem na percepção de sintomas cócleo-vestibulares pelos cuidadores de crianças com hipotireoidismo congênito.


Subject(s)
Child, Preschool , Socioeconomic Factors , Vestibulocochlear Nerve Diseases/diagnosis , Congenital Hypothyroidism/therapy , Treatment Adherence and Compliance , Tinnitus , Cross-Sectional Studies , Caregivers , Cochlear Nerve , Dizziness , Hearing Loss
14.
Arch. endocrinol. metab. (Online) ; 63(3): 199-207, May-June 2019. tab, graf
Article in English | LILACS | ID: biblio-1011160

ABSTRACT

ABSTRACT Objective Determine the milk quality effect during lactation on the metabolic and thyroid programming of hypothyroid offspring. Materials and methods Ten-week-old female Wistar rats were divided into two groups: euthyroid and thyroidectomy-caused hypothyroidism. The rats were matted and, one day after birth, the pups were divided into three groups: euthyroid offspring (EO), hypothyroid offspring (HO) and hypothyroid with a euthyroid replacement wet nurse (HRO). During lactation, the milk quality and offspring body length were evaluated. The body weight and energy intake were determined on a weekly basis, as well as the metabolic profile at the prepubertal (P35-36) and postpubertal (P55-56) ages. At P56, the animals were sacrificed, the adipose tissues were weighed and the thyroid glands were dissected for histological processing. Results The milk of the hypothyroid wet nurse decreases proteins (16-26%), lipids (22-29%) and lactate (22-37%) with respect to euthyroid. The HO has a lower body weight gain (23-33%), length (11-13%) and energy intake (15-21%). In addition, HO presents impaired fasting glucose and dyslipidemia, as well as a reduction in seric thyroid hormone (18-34%), adipose reserves (26-68%) and thyroid gland weight (25-34%). The HO present thyroid gland cytoarchitecture alteration. The HRO develop the same metabolic alterations as the HO. However, the thyroid gland dysfunction was partially prevented because the HRO improved under about 10% of the serum thyroid hormone concentration, the thyroid gland weight although histological glandular changes presented. Conclusions The replacement of hypothyroid offspring with a euthyroid wet nurse during lactation can improve the thyroid programming without modifying metabolic programming.


Subject(s)
Animals , Female , Rats , Thyroid Hormones/metabolism , Lactation/metabolism , Congenital Hypothyroidism/metabolism , Maternal Nutritional Physiological Phenomena , Thyroid Gland/pathology , Rats, Wistar , Disease Models, Animal
15.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 37(1): 82-89, Jan.-Mar. 2019. tab, graf
Article in Portuguese | LILACS | ID: biblio-985124

ABSTRACT

RESUMO Objetivo: Investigar a manifestação de sintomas do transtorno do processamento auditivo central em crianças com hipotireoidismo congênito. Métodos: Estudo de caráter exploratório, descritivo e transversal com 112 pacientes com hipotireoidismo congênito com idade ≥5 anos. Realizou-se entrevista com os pais/cuidadores no momento da espera da consulta médica. Portadores de outras afecções médicas foram excluídos. Como instrumento de pesquisa utilizou-se o protocolo estruturado de anamnese para avaliação do processamento auditivo rotineiramente empregado por audiologistas. A análise estatística utilizou o teste Qui-quadrado. Resultados: A distribuição por sexo foi semelhante (meninas: 53,3%). Os casos não-disgenesia constituíram a forma fenotípica mais prevalente para o hipotireoidismo congênito (88,4%), e verificou-se que 65,3% das crianças apresentavam algum episódio de níveis séricos irregulares de hormônio tireoestimulante. Dentre as manifestações mais frequentes dos sintomas do transtorno do processamento auditivo central, as queixas relaciondas às funções cognitivas auditivas, como: figura-fundo (83,0%), atenção auditiva (75,9%) e memória auditiva (33,0%) foram as mais evidentes. Reclamações relacionadas ao rendimento escolar foram reportadas em 62,3%. Conclusões: Os dados obtidos evidenciaram altas frequências de sintomas de defasagem nas funções cognitivas relacionadas ao processamento auditivo central, em especial na atenção auditiva, figura-fundo e memória auditiva nos portadores do hipotireoidismo congênito.


ABSTRACT Objective: To investigate the presence of central auditory processing disorder symptoms in children with congenital hypothyroidism. Methods: An exploratory, descriptive, cross-sectional study of 112 patients with congenital hypothyroidism aged ≥5 years old. An interview was held with the parents/caregivers at the time of the medical consultation. Patients with other medical conditions were excluded. As a research instrument, the structured protocol of anamnesis was used to evaluate the auditory processing routinely used by audiologists. For statistical analysis, the chi-square test was used. Results: Sex distribution was similar in both boys and girls (girls: 53.3%). The most prevalent phenotypic form of congenital hypothyroidism was no dysgenesis (88.4%), and 65.3% of the children had an episode of irregular serum thyroid-stimulating hormone (TSH) levels. Among the manifestations of the most frequent central auditory processing disorder symptoms, problems were reported with regard to cognitive functions, as they related to hearing, such as figure-background ability (83.0%), auditory attention (75.9%) and auditory memory (33.0%). Complaints related to school performance were reported in 62.3% of the cases. Conclusions: The data obtained show a high frequency of lag symptoms in cognitive functions related to central auditory processing, particularly with regard to auditory attention, figure-background ability and auditory memory in patients with congenital hypothyroidism.


Subject(s)
Humans , Male , Female , Child , Adolescent , Thyrotropin/blood , Cognition , Brazil/epidemiology , Sex Factors , Cross-Sectional Studies , Risk Factors , Congenital Hypothyroidism/diagnosis , Congenital Hypothyroidism/physiopathology , Congenital Hypothyroidism/blood , Congenital Hypothyroidism/epidemiology , Goiter, Nodular/diagnosis , Goiter, Nodular/etiology , Goiter, Nodular/psychology , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/etiology , Hearing Loss, Sensorineural/psychology , Hearing Tests/methods , Hearing Tests/statistics & numerical data
16.
Article in Chinese | WPRIM | ID: wpr-775124

ABSTRACT

OBJECTIVE@#To preliminarily investigate the relationship between stimulatory G protein α subunit (GNAS) and thyroid hormone receptor α (THRA) gene mutations and clinical phenotypes in children with congenital hypothyroidism (CH).@*METHODS@#A total of 70 children with CH diagnosed by neonatal screening were enrolled. Their peripheral blood samples were collected to extract genomic DNA. GNAS and THRA genes were screened for mutations using next-generation sequencing. Bioinformatics software was used to analyze the pathogenicity of gene mutations.@*RESULTS@#Of the 70 children with CH, nine missense mutations (three known mutations and six novel mutations) in the GNAS gene were detected in three patients (4%), and one gene polymorphism, c.508A>G(p.I170V), in the THRA gene was detected in four patients. The analysis results of bioinformatics software and ACMG/AMP guidelines showed that the two GNAS gene mutations [c.301C>T(p.R101C) and c.334G>A(p.E112K)] were more likely to be pathogenic. Three children with GNAS gene mutations showed different degrees of hypothyroidism.@*CONCLUSIONS@#GNAS gene mutations are related to the development of CH, and children with CH have different clinical manifestations. THRA gene mutations may not be associated with CH.


Subject(s)
Chromogranins , Genetics , Congenital Hypothyroidism , GTP-Binding Protein alpha Subunits, Gs , Genetics , Genes, erbA , Humans , Infant, Newborn , Mutation , Phenotype , Thyroid Hormone Receptors alpha , Genetics
17.
Article in Chinese | WPRIM | ID: wpr-775072

ABSTRACT

OBJECTIVE@#To study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China.@*METHODS@#Mutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in Shandong. Whole-genome DNA was extracted from peripheral blood leukocytes. PCR multiplication was performed for the whole coding region of the TUBB1 gene. Sanger sequencing was performed for the PCR products, and a biological information analysis was performed.@*RESULTS@#Among the 289 children with CH and TD, 4 (1.4%) were found to have a c.952C>T(p.R318W) heterozygous mutation in the TUBB1 gene, resulting in the change of tryptophan into arginine at codon 318 of TUBB1 protein. This mutation was evaluated as "potentially pathogenic" based on the classification criteria and guidelines for genetic variation by American College of Medical Genetics and Genomics.@*CONCLUSIONS@#A novel mutation is detected in the exon of the TUBB1 gene in children with CH and TD in Shandong, suggesting that the TUBB1 gene may be a candidate pathogenic gene for CH children with TD.


Subject(s)
Child , China , Congenital Hypothyroidism , Genetics , DNA Mutational Analysis , Humans , Mutation , Thyroid Dysgenesis , Genetics , Tubulin , Genetics
18.
Article in Chinese | WPRIM | ID: wpr-776819

ABSTRACT

OBJECTIVE@#To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).@*METHODS@#High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child.@*RESULTS@#No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent.@*CONCLUSION@#The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.


Subject(s)
Blepharophimosis , Genetics , Child , Congenital Hypothyroidism , Genetics , DNA Copy Number Variations , Facies , Female , Heart Defects, Congenital , Genetics , Histone Acetyltransferases , Genetics , Humans , Intellectual Disability , Genetics , Joint Instability , Genetics , Mutation , Phenotype , Pregnancy
19.
Article in English | WPRIM | ID: wpr-762611

ABSTRACT

Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused by thyroid dysgenesis and thyroid dyshormonogenesis. CH due to a TG gene mutation is one cause of thyroid dyshormonogenesis and can be characterized by goitrous CH with absent or low levels of serum thyroglobulin (Tg). In the present case, a 15-day-old neonate was referred to us with elevated thyroid stimulating hormone detected during a neonatal screening test. At the age of 34 months, extensive genetic testing was performed, including targeted exome sequencing for hypothyroidism, and revealed compound heterozygous mutations in the TG gene. Sanger sequencing of both parents’ DNA samples revealed a c.3790T> C (p.Cys1264Arg) mutation located at exon 17 inherited from the mother, and a c.4057C> T (p.Gln1353*) mutation located at exon 19 was inherited from the father. The c.4057C> T (p.Gln1353*) mutation located at exon 19 has never been reported and, therefore, is a new discovery. We report a case of primary permanent CH with compound heterozygous mutations of the TG gene, including a novel mutation.


Subject(s)
Congenital Hypothyroidism , DNA , Exome , Exons , Fathers , Genetic Testing , Humans , Hypothyroidism , Incidence , Infant , Infant, Newborn , Mothers , Neonatal Screening , Thyroglobulin , Thyroid Dysgenesis , Thyroid Gland , Thyrotropin
20.
Article in English | WPRIM | ID: wpr-762595

ABSTRACT

Preterm infants can suffer various thyroid dysfunctions associated with developmental immaturity of the hypothalamic-pituitary-thyroid axis, postnatal illness, medications, or iodine supply. The incidence of thyroid dysfunction among preterm infants is higher than that among term infants and has been increasing with improvement in the survival of preterm infants. Hypothyroxinemia is frequently observed during the first week of life in extreme preterm neonates, and the incidence of delayed thyrotropin elevation is high at the age of 2–6 weeks. Although the necessity of routine rescreening remains controversial, recent guidelines on screening for congenital hypothyroidism have recommended rescreening of all preterm neonates. Thyroid hormone replacement is recommended for persistent thyrotropin elevation with or without hypothyroxinemia. Hypothyroxinemia without thyrotropin elevation does not require treatment, and some potential risks of levothyroxine supplementation have been reported. Although most thyroid dysfunctions are transient, careful follow-up after discontinuation of levothyroxine is considered so as to avoid missing persistent hypothyroidism.


Subject(s)
Congenital Hypothyroidism , Follow-Up Studies , Humans , Hypothyroidism , Incidence , Infant , Infant, Newborn , Infant, Premature , Iodine , Mass Screening , Thyroid Gland , Thyrotropin , Thyroxine
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