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

Abstract Purpose: To explore the association between the clinical phenotype of hyperthyroidism in children and the exon gene mutation loci of hyperthyroidism in children. Methods: As a prospective study, this study collected data from 39 children with hyperthyroidism at Guangzhou Women and Children's Medical Center in 2023. Apriori association rules and network diagram were used to analyze the clinical phenotype of 39 children with hyperthyroidism and the association between exon gene mutation loci. Results: Among 39 children with hyperthyroidism, 74.36% were females. It was discovered that hyperthyroidism often occurs in children of school age, and the age of patients is correlated with the mutations of TG, TSHR, DBH, LHCGR and other genes. Children with hyperthyroidism who have a family history of hyperthyroidism have a high correlation with GPR1, TSHR and TG gene mutations. It was also found that abnormal liver function is correlated with TG, DBH and LHCGR gene mutations. The children showed different degrees of goiter, and those of them with 2-degree goiter were associated with mutations in DBH, LHCGR and TR genes. Further findings show that hyperthyroidism can lead to exophthalmos and LHCG, DBH, and FSHR are the most closely related genes with exophthalmos. Most of the biochemical indexes TPOAb, TGAb, TG and TRAb of children with hyperthyroidism exceed the normal range. Conclusion: Association rules and network diagrams can be used to explore the multiple correlations between the clinical phenotypes of hyperthyroidism in children and the mutation loci of different exons of hyperthyroidism in children. In the association analysis, it was found that the abnormal values of TPOAb, TGAb, TG and TRAb in the children with hyperthyroidism were females, school-age, grade 2 goiter, exophthalmos, and were closely related to the mutations of TG, DBH, TSHR and LHCGR genes.