Association analysis of clinical phenotype and exon gene mutation locus in children with hyperthyroidism

Background: To explore the association between the clinical phenotype of hyperthyroidism in children and the exon gene mutation locus of hyperthyroidism in children. Methods: This study collected data from 39 children with hyperthyroidism at Guangzhou Women and Children’s Medical Center in 2023. Apriori association rules are used to analyze the clinical phenotype of 39 children with hyperthyroidism and the association between exon gene mutation locus. Results: It is discovered that girls with hyperthyroidism are associated with mutations in TG, LHCGR, TSHR and other genes. Hyperthyroidism often occurs in children of school age, and the age of patients is related to the mutations of TG, TSHR and other genes. When there is no family history of hyperthyroidism, children are mostly associated with GNAS and CTLA4 gene mutations. It is also found that there is a no correlation between the gene mutation and the abnormal liver functions in children with hyperthyroidism. Mutations in DBH, LHCGR and TSHR genes are strongly associated with 2-degree goiter of the thyroid gland. The mutated genes associated with exophthalmos are GPR 1, TSHR, FSHR and LHCGR. Further findings show that the gene mutation loci (LHCGR, chr2,48688732, A > G) is strongly related to abnormal value of TPOAb, TGAb, TG and TRAb. Conclusions: These findings emphasize the significant impact of gene mutations on the development of hyperthyroidism, highlighting potential biomarkers for genetic counseling and personalized treatment methods. This study deepens our understanding of the genetic basis of hyperthyroidism in children and lays the foundation for future personalized research and genetic diagnosis based on these preliminary findings.