ArticleArchives of endocrinology and metabolism2018
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis.
Article in Archives of endocrinology and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Article
- Molecular Genetics of Primary Congenital Hypothyroidism: Established and Emerging Contributors to Thyroid Dysgenesis.International journal of molecular sciences · 2025Review
- Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.Children (Basel, Switzerland) · 2024Article
- Article
- Initial screening of the rs104893657 variant of the PAX8 gene in women with hypothyroidism from Northeastern Slovakia.Central European journal of public health · 2023Article
- A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?Archives of endocrinology and metabolism · 2023Article
- Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants inChildren (Basel, Switzerland) · 2021Article
- Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.International journal of general medicine · 2021Article
- Hemiagenesis of the thyroid gland detected by coincidence-what is the clinical relevance? : Case report and review of the literature.Wiener medizinische Wochenschrift (1946) · 2020Review
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. SUBJECTS AND
methodsCharacterization 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.
resultsNo 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).
conclusionsThyroid dysgenesis is possibly a polygenic disorder and epigenetic factors could to be implicated in these pathogeneses.
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