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
in English
| LILACS
| ID: biblio-950085
Responsible library:
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.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Receptors, Thyrotropin
/
Homeobox Protein Nkx-2.5
/
PAX8 Transcription Factor
/
Mutation
Type of study:
Diagnostic study
/
Etiology study
/
Incidence study
/
Observational study
/
Prognostic study
/
Risk factors
/
Screening study
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Arch. endocrinol. metab. (Online)
Journal subject:
Endocrinology
/
Metabolism
Year:
2018
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
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