Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis
Arch. endocrinol. metab. (Online)
;
62(4): 466-471, July-Aug. 2018. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-950085
ABSTRACT
ABSTRACT Objective:
To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects andmethods:
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Receptores da Tireotropina
/
Proteína Homeobox Nkx-2.5
/
Fator de Transcrição PAX8
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo de incidência
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Criança, pré-escolar
/
Feminino
/
Humanos
/
Lactente
/
Masculino
/
Recém-Nascido
País/Região como assunto:
América do Sul
/
Brasil
Idioma:
Inglês
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2018
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Associação de Pais e Amigos dos Excepcionais/BR
/
Escola Bahiana de Saúde e Medicina/BR
/
Fiocruz/BR
/
Grupo Fleury/BR
/
Universidade Federal da Bahia/BR
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