Archives of endocrinology and metabolism · 2018
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis.
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Cerqueira Taíse Lima de Oliveira, 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
Аннотация
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.
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.
Предметные рубрики MeSH
BrazilChild, PreschoolCohort StudiesCongenital HypothyroidismDNA Mutational AnalysisFemaleGenetic TestingHomeobox Protein Nkx-2.5HumansInfantInfant, NewbornMaleMutationNeonatal ScreeningPAX8 Transcription FactorReceptors, ThyrotropinThyroid DysgenesisThyrotropinThyroxineTranscription Factor HES-1Ultrasonography