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
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
LILAS (Amériques)
Sujet Principal:
Récepteur TSH
/
Protéine homéotique Nkx-2.5
/
Facteur de transcription PAX-8
/
Mutation
Type d'étude:
Etude diagnostique
/
Etude d'étiologie
/
Etude d'incidence
/
Étude observationnelle
/
Étude pronostique
/
Facteurs de risque
/
Étude de dépistage
Limites du sujet:
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Bébé
/
Mâle
/
Nouveau-né
Pays comme sujet:
Amérique du Sud
/
Brésil
langue:
Anglais
Texte intégral:
Arch. endocrinol. metab. (Online)
Thème du journal:
Endocrinologie
/
Métabolisme
Année:
2018
Type:
Article
Pays d'affiliation:
Brésil
Institution/Pays d'affiliation:
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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