ArticleEndocrine connections2020
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients.
Article in Endocrine connections, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 17 citations in OpenAlex.
- Genetic screening and functional characterization ofJournal of the Endocrine Society · 2026Article
- The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Annals of medicine · 2025Review
- Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing.The Kaohsiung journal of medical sciences · 2024Article
- Genetic Factors Causing Thyroid Dyshormonogenesis as the Major Etiologies for Primary Congenital Hypothyroidism: Clinical and Genetic Characterization of 33 Patients.Journal of clinical medicine · 2022Article
- Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.Endocrine · 2022Article
- Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.Annals of medicine · 2021Article
- Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort.Frontiers in endocrinology · 2021Article
- Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients.International journal of general medicine · 2021Article
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Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo identify the genetic etiologies of congenital primary hypothyroidism (CH) in Thai patients. DESIGN AND
methodsCH patients were enrolled. Clinical characteristics including age, signs and symptoms of CH, pedigree, family history, screened thyroid-stimulating hormone results, thyroid function tests, thyroid imaging, clinical course and treatment of CH were collected. Clinical exome sequencing by next-generation sequencing was performed. In-house gene list which covered 62 potential candidate genes related to CH and thyroid disorders was developed for targeted sequencing. Sanger sequencing was performed to validate the candidate variants. Thyroid function tests were determined in the heterozygous parents who carried the same DUOX2 or DUOXA2 variants as their offsprings.
resultsThere were 118 patients (63 males) included. Mean (SD) age at enrollment was 12.4 (7.9) years. Forty-five of 118 patients (38%) had disease-causing variants. Of 45 variants, 7 genes were involved (DUOX2, DUOXA2, TG, TPO, SLC5A5, PAX8 and TSHR). DUOX2, a gene causing thyroid dyshormonogenesis, was the most common defective gene (25/45, 56%). The most common DUOX2 variant found in this study was c.1588A>T. TG and TPO variants were less common. Fourteen novel variants were found. Thyroid function tests of most parents with heterozygous state of DUOX2 and DUOXA2 variants were normal.
conclusionsDUOX2 variants were most common among Thai CH patients, while TG and TPO variants were less common. The c.1588A>T in DUOX2 gene was highly frequent in this population.
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