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
Article
em En
| LILACS
| ID: biblio-950085
Biblioteca responsável:
BR1.1
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Receptores da Tireotropina
/
Proteína Homeobox Nkx-2.5
/
Fator de Transcrição PAX8
/
Mutação
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
ENDOCRINOLOGIA
/
METABOLISMO
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Brasil