Cho WK, et al. Korean J Pediatr. 2016 Jan;59(1):1-7. http://dx.doi.org/10.3345/kjp.2016.59.1.1

Kang HM, et al. J Korean Med Sci. 2020 Dec;36(3):e21. https://doi.org/10.3346/jkms.2021.36.e21

The incidence of congenital hypothyroidism (CH) has increased in several countries. Lower cut-off in screening programs have led to an increase in the proportion of transient hypothyroidism (TH) cases diagnosed, leading to debate on the associated clinical and economic impact. This study aimed to identify factors that would allow discrimination between TH and permanent CH (PH) in patients with a eutopic thyroid gland. Sixty-six patients with CH from 3 different hospitals were studied: 26 cases of TH, and 40 cases of PH. Laboratory findings and clinical parameters were analysed in 56 patients with eutopic thyroid gland. Initial serum thyroid stimulating hormone levels and L-thyroxine dose at 12 and 24 months of age were significantly higher in PH than TH patients with a eutopic thyroid gland. The area under the curve for the 12-month and 24-month dose for the prediction of TH in eutopic CH was 0.799 (95% confidence interval [CI], 0.678-0.919; P<0.001) and 0.925 (95% CI, 0.837-1.000; P<0.001), respectively. The optimum 12-month and 24-month dose in predicting TH is 3.25 µg/kg (12-month: sensitivity, 87.1%; specificity, 68.0%; 24-month: sensitivity 93.5%, specificity 88%). Infants with CH requiring lower L-thyroxine doses (<3.25 µg/kg) are likely to have TH, and thus might be re-evaluated at 12 months or 24 months rather than 3 years of age.

Kawasaki disease is a leading cause of acquired heart disease in children. The prevalence rate varies in different ethnic groups. Recently, with the clinical application of molecular genetic technology, human leukocyte antigen (HLA) polymorphisms associated with several diseases have been identified by DNA analysis. This study aimed to assess the association of HLA alleles with susceptibility and complications of Kawasaki disease in Korean children. In this study, DNA was extracted from 74 children with a diagnosis of Kawasaki disease. The polymorphisms of the HLA-A, -B, -C, and -DRB1 alleles of patients with Kawasaki disease were determined by polymerase chain reaction (PCR)–amplification refractory mutation system (ARMS) and PCR–sequence-specific primer (SSP) analysis. The polymorphisms identified were compared with those of 159 normal healthy control subjects. There was a significant increase in the frequencies of the HLA-B35, -B75, and -Cw09 alleles in patients with Kawasaki disease compared with the healthy control group. There was no increase in the frequency of HLA-DRB1 alleles among the Kawasaki disease patients compared with a healthy control group. When the patients with Kawasaki disease were divided into two subgroups, with or without coronary complications, the Kawasaki disease patients with coronary complications showed a significantly increased frequency of the HLA-DRB1*11 allele compared with the healthy control group and increased frequency of HLA-DRB1*09 in a comparison of the subgroups. This study suggests that polymorphisms in some alleles of B and C in HLA class I genes are associated with Kawasaki disease in Korean children.