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
Artículo
en Inglés
| 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 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.
Texto completo:
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Índice:
LILACS (Américas)
Asunto principal:
Receptores de Tirotropina
/
Proteína Homeótica Nkx-2.5
/
Factor de Transcripción PAX8
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio de etiología
/
Estudio de incidencia
/
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
/
Estudio de tamizaje
Límite:
Child, preschool
/
Femenino
/
Humanos
/
Lactante
/
Masculino
/
Recién Nacido
País/Región como asunto:
America del Sur
/
Brasil
Idioma:
Inglés
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
Endocrinologia
/
Metabolismo
Año:
2018
Tipo del documento:
Artículo
País de afiliación:
Brasil
Institución/País de afiliación:
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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