ArticleEuropean journal of endocrinology2018
The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes.
Article in European journal of endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 2 of them syntheses that pooled it.
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Who cites it
50 citing papers in PubMed, 2 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review.Frontiers in endocrinology · 2025Pooled it
- Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review.Inquiry : a journal of medical care organization, provision and financingPooled it
- Benchmarking genetic birth prevalence estimates against newborn screening data.American journal of human genetics · 2026Article
- Methyltransferase like 3 promotes thyroid folliculogenesisJournal of translational internal medicine · 2026Article
- Genetic Analyses in a Cohort of Pediatric Patients with Congenital Hypothyroidism Based on Congenital Hypothyroidism Consensus Guideline.Hormone research in paediatrics · 2026Article
- The role of DUOXA2 in the clinical diagnosis of paediatric congenital hypothyroidism.Annals of medicine · 2025Review
- Public Cohort Analysis Identifies Thyroglobulin Variants as Hypothyroidism Risk Factors.bioRxiv : the preprint server for biology · 2025Article
- Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.International journal of neonatal screening · 2025Article
- NADPH oxidases: redox regulation of cell homeostasis and disease.Physiological reviews · 2025Review
- Genetic Etiology of Permanent Congenital Hypothyroidism in Korean Patients: A Whole-Exome Sequencing Study.International journal of molecular sciences · 2025Article
- Mutation spectra and genotype‑phenotype analysis of congenital hypothyroidism in a neonatal population.Biomedical reports · 2025Article
- rs9789446 genotype as susceptibility biomarkers for congenital hypothyroidism based on population and family validation.Frontiers in genetics · 2025Article
- Is there are relationship between polymorphisms TSHR gene frequencies and genetic ancestry markers in patients with Primary Congenital Hypothyroidism?Genetics and molecular biology · 2025Article
- Revealing the genotype-phenotype correlations of congenital hypothyroidism in Yunnan Province, Southwest China.Frontiers in endocrinology · 2025Article
- Patients with Thyroid Dyshormonogenesis andInternational journal of molecular sciences · 2024Article
- Article
- Clinical and molecular study of patients with thyroid dyshormogenesis and variants in theFrontiers in endocrinology · 2024Article
- Revealing the genetic complexity of hypothyroidism: integrating complementary association methods.Frontiers in genetics · 2024Article
- Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing.The Journal of clinical endocrinology and metabolism · 2023Article
Corrections and comments
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Authors and funding
19 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveCongenital hypothyroidism (CH), the most common neonatal metabolic disorder, is characterized by impaired neurodevelopment. Although several candidate genes have been associated with CH, comprehensive screening of causative genes has been limited. DESIGN AND
methodsOne hundred ten patients with primary CH were recruited in this study. All exons and exon-intron boundaries of 21 candidate genes for CH were analyzed by next-generation sequencing. And the inheritance pattern of causative genes was analyzed by the study of family pedigrees.
resultsOur results showed that 57 patients (51.82%) carried biallelic mutations (containing compound heterozygous mutations and homozygous mutations) in six genes (
conclusionsMost cases of congenital hypothyroidism in China were caused by thyroid dyshormonogenesis rather than thyroid dysgenesis. This study identified previously reported causative genes for 57/110 Chinese patients and revealed
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