ArticleInternational journal of molecular sciences2025
Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.
Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Genetic screening and functional characterization ofJournal of the Endocrine Society · 2026Article
- Epidemiological characteristics of congenital hypothyroidism and risk factors for permanent congenital hypothyroidism in Gansu, China.BMC pediatrics · 2026Article
- Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice.Frontiers in endocrinology · 2025Article
- rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation.Frontiers in genetics · 2025Article
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2 authors.
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Abstract
Congenital hypothyroidism (CH) is among the most common endocrine disorders in neonates. Genetic testing is essential for elucidating the underlying etiology, especially in cases of permanent CH. We enrolled 32 patients diagnosed with permanent CH from the Pediatric Endocrinology Clinics at Jeju National University Hospital and Soonchunhyang University Cheonan Hospital. Whole-exome sequencing (WES) was performed on genomic DNA extracted from buccal swabs. Variants were classified according to guidelines established by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP). WES identified 21 distinct genetic variants in 20 of the 32 patients (62.5%), spanning 6 CH-related genes:
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