Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

• Autor(a) principal: Cerqueira,Taíse Lima de Oliveira
• Data de Publicação: 2018
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de Endocrinologia e Metabolismo (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000400466
• topic: Thyroid dysgenesis; congenital hypothyroidism; transcription factors

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.