Molecular and clinical characteristics of pediatric patients with primary congenital hypothyroidism: novel genetic variants and the genotype-phenotype association
This study highlighted the significant role of genetic factors in primary CH, with DUOX2 being the most common pathogenic gene. Seven novel variants were identified, expanding the genetic spectrum. TDH might have been the main pathogenic mechanism, and TD was closely linked to PCH. Genetic CH was associated with lower FT4 levels, while DUOX2 variants correlated with milder biochemical phenotypes, further supporting genotype-phenotype correlations.
Authors
- Jing-Li Tian
- Wenting Zhang (ORCID: https://orcid.org/0000-0003-4166-9352)
- Lihua Chen (ORCID: https://orcid.org/0000-0002-6313-6496)
- Rui Liu (ORCID: https://orcid.org/0000-0002-8578-0733)
- Jingjing Ma (ORCID: https://orcid.org/0000-0002-2548-5871)
- Chengcheng Zhang (ORCID: https://orcid.org/0000-0002-0152-3001)
- Yuan‐Zong Song
- Xiaoling Huang (ORCID: https://orcid.org/0009-0002-7828-5248)
- Mei Deng (ORCID: https://orcid.org/0000-0003-0480-5730)
Institutions
- Dongguan People’s Hospital (CN)
- Huizhou Central People's Hospital (CN)
- Tang Hospital (CN)
- First Affiliated Hospital of Jinan University (CN)
Publication Details
- Journal
- Clinica Chimica Acta
- Published
- 2025-06-16
- DOI
- https://doi.org/10.1016/j.cca.2025.120426
- Citations
- 1
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.29
Funders
- Jinan University
- Guangzhou Science and Technology Program key projects