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| Id: |
biblio-950085
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| Autor: |
Cerqueira, Taíse Lima de Oliveira; Ramos, Yanne Rocha; Strappa, Giorgia Bruna; Jesus, Mariana Souza de; Santos, Jailciele Gonzaga; Sousa, Camila; Carvalho, Gildásio; Fernandes, Vladimir; Boa-Sorte, Ney; Amorim, Tatiana; Silva, Thiago Magalhães; Ladeia, Ana Marice Teixeira; Acosta, Angelina Xavier; Ramos, Helton Estrela. |
| Título: |
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis |
| Fonte: |
Arch. endocrinol. metab. (Online);62(4):466-471, July-Aug. 2018. tab, graf.
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| Idioma: |
en.
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| Projeto: |
FAPESB; . CNPq.
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| Resumo: |
ABSTRACT Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with hormone levels (TT4 and TSH), thyroid ultrasound and scintigraphy. DNA was extracted from peripheral blood leukocytes and the genetic analysis was realized by investigating the presence of mutations in the transcription factor genes involved in thyroid development. Results: No mutations were detected in any of the candidate genes. In situ thyroid gland represented 71.1% of all cases of permanent primary congenital hypothyroidism, followed by hypoplasia (9.6%), ectopia (78%), hemiagenesis (6.0%) and agenesis (5.5%). The highest neonatal screening TSH levels were in the agenesis group (p < 0.001). Conclusions: Thyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.
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| Descritores: |
Receptores da Tireotropina/genética
Proteína Homeobox Nkx-2.5/genética
Fator de Transcrição PAX8/genética
Mutação/genética
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-Brasil
Análise Mutacional de DNA
Testes Genéticos
Estudos de Coortes
Ultrassonografia
Hipotireoidismo Congênito/etiologia
Hipotireoidismo Congênito/genética
Hipotireoidismo Congênito/diagnóstico por imagem
Disgenesia da Tireoide/genética
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| Limites: |
Humanos
Masculino
Feminino
Recém-Nascido
Lactente
Pré-Escolar
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| Responsável: |
BR1.1 - BIREME
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