Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

• Main Authors: Taíse Lima de Oliveira Cerqueira, Yanne Rocha Ramos, Giorgia Bruna Strappa, Mariana Souza de Jesus, Jailciele Gonzaga Santos, Camila Sousa, Gildásio Carvalho, Vladimir Fernandes, Ney Boa-Sorte, Tatiana Amorim, Thiago Magalhães Silva, Ana Marice Teixeira Ladeia, Angelina Xavier Acosta, Helton Estrela Ramos
• Format: Article
• Language: English
• Published: Brazilian Society of Endocrinology and Metabolism
• Series: Archives of Endocrinology and Metabolism
• Subjects: Thyroid dysgenesis; congenital hypothyroidism; transcription factors
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972018000400466&lng=en&tlng=en

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.