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Purpose@#We aimed to investigate the prevalences of obesity, abdominal obesity, and non-alcoholic fatty liver disease (NAFLD) among children and adolescents during the coronavirus disease 2019 (COVID-19) outbreak. @*Materials and Methods@#This population-based study investigated the prevalences of obesity, abdominal obesity, and NAFLD among 1428 children and adolescents between 2018–2019 and 2020. We assessed the prevalences of obesity, abdominal obesity, and NAFLD according to body mass index, age, sex, and residential district. Logistic regression analyses were performed to determine the relationships among obesity, abdominal obesity, and NAFLD. @*Results@#In the obese group, the prevalence of abdominal obesity increased from 75.55% to 92.68%, and that of NAFLD increased from 40.68% to 57.82%. In age-specific analysis, the prevalence of abdominal obesity increased from 8.25% to 14.11% among participants aged 10–12 years and from 11.70% to 19.88% among children aged 13–15 years. In residential district-specific analysis, the prevalence of both abdominal obesity and NAFLD increased from 6.96% to 15.74% in rural areas. In logistic regression analysis, the odds ratio of abdominal obesity for NAFLD was 11.82. @*Conclusion@#Our results demonstrated that the prevalences of abdominal obesity and NAFLD increased among obese Korean children and adolescents and in rural areas during the COVID-19 outbreak. Additionally, the prevalence of abdominal obesity increased among young children. These findings suggest the importance of closely monitoring abdominal obesity and NAFLD among children during COVID-19, focusing particularly on obese young children and individuals in rural areas.
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Purpose@#The appropriate evaluation of height and accurate estimation of bone age are crucial for proper assessment of the growth status of a child. We developed a bone age estimation program using a deep learning algorithm and established a model to predict the final adult height of Korean children. @*Materials and Methods@#A total of 1678 radiographs from 866 children, for which the interpretation results were consistent between two pediatric endocrinologists, were used to train and validate the deep learning model. The bone age estimation algorithm was based on the convolutional neural network of the deep learning system. The test set simulation was performed by a deep learning program and two raters using 150 radiographs and final height data for 100 adults. @*Results@#There was a statistically significant correlation between bone age interpreted by the artificial intelligence (AI) program and the reference bone age in the test set simulation (r=0.99, p<0.001). In the test set simulation, the AI program showed a mean absolute error (MAE) of 0.59 years and a root mean squared error (RMSE) of 0.55 years, compared with reference bone age, and showed similar accuracy to that of an experienced pediatric endocrinologist (rater 1). Prediction of final adult height by the AI program showed an MAE of 4.62 cm, compared with the actual final adult height. @*Conclusion@#We developed a bone age estimation program based on a deep learning algorithm. The AI-derived program demonstrated high accuracy in estimating bone age and predicting the final adult height of Korean children and adolescents.
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Thyroid hormone plays a vital role in regulating human metabolism. They affect the functions of major organs, such as the brain, liver, skeletal muscle, and heart. Hypothyroidism can lead to dilated cardiomyopathy and decreased heart function. In this report, we describe a case of a teenage boy who developed dilated cardiomyopathy due to hypothyroidism and was considered to undergo heart transplantation. Levothyroxine monotherapy was initiated but produced no improvement. Thereafter, a combination therapy of liothyronine and levothyroxine was administered, and heart function was gradually restored; he recovered completely after 6 months. Cardiac myocytes respond more specifically to liothyronine than to levothyroxine. Therefore, we suggest that liothyronine and levothyroxine combination therapy should be considered rather than levothyroxine monotherapy for hypothyroidism accompanied by heart disease.
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Background@#Discontinuing growth hormone (GH) treatment during the transition to adulthood has been associated with adverse health outcomes in patients with childhood-onset growth hormone deficiency (CO-GHD). This study investigated the metabolic changes associated with interrupting GH treatment in adolescents with CO-GHD during the transition period. @*Methods@#This study included 187 patients with CO-GHD who were confirmed to have adult GHD and were treated at six academic centers in Korea. Data on clinical parameters, including anthropometric measurements, metabolic profiles, and bone mineral density (BMD) at the end of childhood GH treatment, were collected at the time of re-evaluation for GHD and 1 year after treatment resumption. @*Results@#Most patients (n=182, 97.3%) had organic GHD. The median age at treatment discontinuation and re-evaluation was 15.6 and 18.7 years, respectively. The median duration of treatment interruption was 2.8 years. During treatment discontinuation, body mass index Z-scores and total cholesterol, low-density lipoprotein, and non-high-density lipoprotein (HDL) cholesterol levels increased, whereas fasting glucose levels decreased. One year after GH treatment resumption, fasting glucose levels, HDL cholesterol levels, and femoral neck BMD increased significantly. Longer GH interruption (>2 years, 60.4%) resulted in worse lipid profiles at re-evaluation. The duration of interruption was positively correlated with fasting glucose and non-HDL cholesterol levels after adjusting for covariates. @*Conclusion@#GH treatment interruption during the transition period resulted in worse metabolic parameters, and a longer interruption period was correlated with poorer outcomes. GH treatment should be resumed early in patients with CO-GHD during the transition period.
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A notable secular trend in early puberty onset has been described over the past few decades. Also, the prevalence and incidence of precocious puberty is increasing not only in Korea, but also around the world. The manifestation of secondary sex characteristics before 8 years in girls and 9 years in boys is defined as precious puberty. The causes of precocious puberty can be classified as gonadotropin releasing hormone (GnRH)-dependent, also known as central precocious puberty (CPP), or GnRH-independent. Evaluation of patient with precocity requires detailed examination of the clinical manifestation, GnRH stimulation test, and imaging of the central nervous system if indicated. The standard treatment for CPP is GnRH agonist, which is beneficial for adequate pubertal development and preservation of final adult height. In this paper, we investigate the diagnosis and adequate treatment of CPP.
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As dyslipidemia at a young age is a risk factor for cardiovascular disease in adulthood, the screening and management of dyslipidemia in children and adolescents might be an important health issue. This review deals with issues related to the prevalence, diagnosis, screening, and treatment of pediatric dyslipidemia.Current Concepts: In Korea, the prevalence of pediatric dyslipidemia was 19.7% between 2007 and 2009. Dyslipidemia was defined according to the guidelines of the Korean Society of Pediatric Endocrinology: total cholesterol ≥200 mg/dL, low-density lipoprotein cholesterol ≥130 mg/dL, triglycerides ≥130 mg/dL, high-density lipoprotein cholesterol <40 mg/dL, or non-high-density lipoprotein cholesterol ≥145 mg/dL.Discussion and Conclusion: We recommend universal screening tests for dyslipidemia at ages 9–11 years and 17–21 years. Diet and lifestyle modifications are essential in the treatment of dyslipidemia. In children aged ≥10 years with a poor response to lifestyle modification, drug therapy is recommended. Pediatric dyslipidemia should be diagnosed and treated properly to reduce adult cardiovascular diseases and improve quality of life in this age group.
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17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.
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X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.
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As dyslipidemia at a young age is a risk factor for cardiovascular disease in adulthood, the screening and management of dyslipidemia in children and adolescents might be an important health issue. This review deals with issues related to the prevalence, diagnosis, screening, and treatment of pediatric dyslipidemia.Current Concepts: In Korea, the prevalence of pediatric dyslipidemia was 19.7% between 2007 and 2009. Dyslipidemia was defined according to the guidelines of the Korean Society of Pediatric Endocrinology: total cholesterol ≥200 mg/dL, low-density lipoprotein cholesterol ≥130 mg/dL, triglycerides ≥130 mg/dL, high-density lipoprotein cholesterol <40 mg/dL, or non-high-density lipoprotein cholesterol ≥145 mg/dL.Discussion and Conclusion: We recommend universal screening tests for dyslipidemia at ages 9–11 years and 17–21 years. Diet and lifestyle modifications are essential in the treatment of dyslipidemia. In children aged ≥10 years with a poor response to lifestyle modification, drug therapy is recommended. Pediatric dyslipidemia should be diagnosed and treated properly to reduce adult cardiovascular diseases and improve quality of life in this age group.
ABSTRACT
17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.
ABSTRACT
X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.
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Purpose@#Metabolic syndrome (MetS) comprises a cluster of risk factors for future cardiovascular and metabolic diseases. Only a few recent studies have reported the trend in the prevalence of MetS in youth. This study aimed to analyze trends in the prevalence of MetS and nutrient intake in the last 10 years and investigate the changes in MetS components among Korean children and adolescents. @*Materials and Methods@#We analyzed the data of 9513 children and adolescents aged 10–19 years from the 2008–2017 Korean National Health and Nutrition Examination Surveys. Diagnosis of MetS was based on the International Diabetes Federation (IDF) and modified National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) criteria. @*Results@#Based on the IDF criteria, MetS prevalence increased from 1.53% in 2008 to 3.19% in 2017 (p=0.007). Based on the NCEPATP III criteria, MetS prevalence increased from 2.18% in 2008 to 3.19% in 2017; however, the increase was not statistically significant. Daily calorie and fat intakes increased significantly during the study period. Among the risk factors that MetS comprises, the prevalence rates of central obesity, low high-density lipoprotein cholesterol levels, and high fasting glucose levels increased significantly. @*Conclusion@#Over the last 10 years, the prevalence of MetS has grown significantly with increasing calorie and fat intake in Korean children and adolescents. Central obesity and high-density lipoprotein cholesterol and fasting glucose levels have worsened.Therefore, active support and close monitoring are required to control MetS and prevent further increase in the prevalence of cardiovascular diseases.
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Hypercalcemia due to primary hyperparathyroidism (PHPT) is uncommon in children. PHPT is typically caused by a single parathyroid adenoma. Ectopic parathyroid adenomas account for 6%–16% of all parathyroid adenomas and are rare in children but should be considered in cases that present with hypercalcemia. We report the case of a 15-year-old boy with PHPT due to an intrathymic ectopic parathyroid adenoma. Neck ultrasonography and Tc-99m-sestamibi (MIBI) scanning with single-photon emission computed tomography/computed tomography (SPECT/CT) revealed ectopic parathyroid adenoma in the thymus. Video-assisted thoracoscopic surgery was performed to remove the ectopic parathyroid adenoma. Pathology showed intrathymic ectopic parathyroid adenoma. After surgery, the patient’s serum calcium level immediately normalized. Intact parathyroid hormone (iPTH) and alkaline phosphatase levels returned to normal ranges within 3 months. Delayed diagnosis of PHPT can cause end-organ damage; a timely diagnosis is especially critical to preserve bone and renal function. If ectopic parathyroid adenomas are well localized in preoperative imaging evaluation and intraoperative iPTH level decreases after resection, ectopic parathyroidectomy without bilateral neck exploration may be performed to avoid unnecessary morbidity.
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Background@#The incidence of type 1 diabetes mellitus (T1DM) among children is high in Europe and the USA and relatively low in Asia, including Korea. The present study aimed to investigate the incidence and prevalence of childhood-onset T1DM in Korea and examine trends in incidence. @*Methods@#This study was conducted using the national registry data provided by the Health Insurance Review and Assessment Service in Korea from 2007 to 2017. We included children aged 0 to 14 years who were newly registered with a T1DM diagnosis each year (code E10). @*Results@#A total of 29,013 children were registered. The overall incidence of T1DM was 4.45 per 100,000 persons (girls, 4.93; boys, 4.01). The overall incidence of childhood-onset T1DM in Korea increased from 3.70 in 2008 to 4.77 in 2016 (P=0.002). The incidence of T1DM increased from 3.07 in 2008 to 4.89 in 2016 (P<0.001) among boys. Although the incidence of the disease increased significantly among boys aged 5–9 and 10–14 years, it remained constant among girls (4.39 in 2008, 4.64 in 2016). The overall prevalence of childhood-onset T1DM in Korea increased from 32.85 in 2007 to 41.03 per 100,000 persons in 2017 (girls, 35.54 to 43.88; boys, 32.85 to 41.03). @*Conclusion@#We calculated relatively accurate incidence and prevalence of childhood-onset T1DM from a nation-based registry. The incidence increased by 3% to 4% every year from 2007 to 2017. The increasing trend is noteworthy compared with previous reports.
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Cushing syndrome (CS) is rare in children. The clinical presentation of CS varies according to extent and duration of glucocorticoid excess, and urolithiasis is a common complication. We report the first case of a patient with CS associated with acute kidney injury (AKI) due to urolithiasis. A 6-year-old boy presented to the Emergency Department with seizure. On physical examination, he had clinical features of CS and high blood pressure. Brain computed tomography (CT) suggested posterior reversible encephalopathy syndrome due to hypertension. On evaluation of hypertension, laboratory tests suggested adrenocortical tumor, but abdominal CT suggested pheochromocytoma. During further evaluation, his condition deteriorated with AKI due to bilateral ureteral stones, for which the patient underwent continuous renal replacement therapy in the intensive care unit. After controlling hypercortisolism with etomidate and performing ureteral stent indwelling, an adrenal mass was resected and histologically confirmed as an adrenocortical adenoma. We review the clinical manifestations, diagnosis, and management of CS associated with urolithiasis and AKI. Early recognition and careful monitoring of urolithiasis in CS patients are important to avoid severe complications of urolithiasis.
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Background@#The incidence of type 1 diabetes mellitus (T1DM) among children is high in Europe and the USA and relatively low in Asia, including Korea. The present study aimed to investigate the incidence and prevalence of childhood-onset T1DM in Korea and examine trends in incidence. @*Methods@#This study was conducted using the national registry data provided by the Health Insurance Review and Assessment Service in Korea from 2007 to 2017. We included children aged 0 to 14 years who were newly registered with a T1DM diagnosis each year (code E10). @*Results@#A total of 29,013 children were registered. The overall incidence of T1DM was 4.45 per 100,000 persons (girls, 4.93; boys, 4.01). The overall incidence of childhood-onset T1DM in Korea increased from 3.70 in 2008 to 4.77 in 2016 (P=0.002). The incidence of T1DM increased from 3.07 in 2008 to 4.89 in 2016 (P<0.001) among boys. Although the incidence of the disease increased significantly among boys aged 5–9 and 10–14 years, it remained constant among girls (4.39 in 2008, 4.64 in 2016). The overall prevalence of childhood-onset T1DM in Korea increased from 32.85 in 2007 to 41.03 per 100,000 persons in 2017 (girls, 35.54 to 43.88; boys, 32.85 to 41.03). @*Conclusion@#We calculated relatively accurate incidence and prevalence of childhood-onset T1DM from a nation-based registry. The incidence increased by 3% to 4% every year from 2007 to 2017. The increasing trend is noteworthy compared with previous reports.
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Cushing syndrome (CS) is rare in children. The clinical presentation of CS varies according to extent and duration of glucocorticoid excess, and urolithiasis is a common complication. We report the first case of a patient with CS associated with acute kidney injury (AKI) due to urolithiasis. A 6-year-old boy presented to the Emergency Department with seizure. On physical examination, he had clinical features of CS and high blood pressure. Brain computed tomography (CT) suggested posterior reversible encephalopathy syndrome due to hypertension. On evaluation of hypertension, laboratory tests suggested adrenocortical tumor, but abdominal CT suggested pheochromocytoma. During further evaluation, his condition deteriorated with AKI due to bilateral ureteral stones, for which the patient underwent continuous renal replacement therapy in the intensive care unit. After controlling hypercortisolism with etomidate and performing ureteral stent indwelling, an adrenal mass was resected and histologically confirmed as an adrenocortical adenoma. We review the clinical manifestations, diagnosis, and management of CS associated with urolithiasis and AKI. Early recognition and careful monitoring of urolithiasis in CS patients are important to avoid severe complications of urolithiasis.
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PURPOSE: The purpose of this study was to investigate associations between self-management and diabetes knowledge, diabetesrelated attitudes, family support, and self-efficacy in adolescents with type 1 diabetes mellitus based on the information-motivation- behavior skills model. METHODS: Data collection was conducted between March 18 and September 30, 2018. Patients (N=87) aged 12 to 19 years were recruited from the outpatient clinic of S children's hospital and an online community for patient with type 1 diabetes mellitus. Data were analyzed using descriptive statistics, the independent t-test, one-way ANOVA, Pearsons correlation, and hierarchical multiple linear regression with SPSS IBM 23.0, with the two-tailed level of significance set at 0.05. RESULTS: The mean score of self-management in adolescents with type 1 diabetes mellitus was 61.23±10.00 out of 80. The regression analysis showed that self-efficacy and family support significantly explained 56.9% of the variance in self-management (F=21.38, p<.001). Self-efficacy (β=.504, p<.001) and family support (β=.188, p<.001) were significant predictors of self-management. CONCLUSION: It is necessary to develop individual interventions to improve self-efficacy and family support for adolescents with type 1 diabetes mellitus to help them enhance their self-management.
Subject(s)
Adolescent , Humans , Ambulatory Care Facilities , Data Collection , Diabetes Mellitus, Type 1 , Linear Models , Self CareABSTRACT
Autoimmune polyendocrine syndrome type 1 (APS-1), or autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare, autosomal recessive autoimmune disease caused by a mutation of the autoimmune regulator (AIRE) gene. The main symptom triad in APS-1 comprises chronic mucocutaneous candidiasis, adrenal insufficiency, and hypoparathyroidism. Various autoimmune diseases and ectodermal abnormalities are also commonly associated with the syndrome. The treatment of APS-1 includes hormone replacement and symptom control. It is important to monitor such patients for clinical manifestations of their disease through regular follow-up. We report the case of a 10-year-old Korean girl with APS-1 due to a novel compound heterozygous mutation of the AIRE gene. This patient's main clinical manifestations were adrenal insufficiency and chronic mucocutaneous candidiasis. The patient had a previously known pathogenic variant of c.1513delG (p.Ala505ProfsTer16), and a newly discovered variant of c.1360dupC (p.His454ProfsTer50).
Subject(s)
Child , Female , Humans , Adrenal Insufficiency , Autoimmune Diseases , Candidiasis, Chronic Mucocutaneous , Ectoderm , Follow-Up Studies , Hypoparathyroidism , Polyendocrinopathies, AutoimmuneABSTRACT
PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood. We investigated the association between KD and single nucleotide polymorphisms (SNPs) in two candidate genes: inositol 1,4,5-triphosphate 3-kinase (ITPKC), a well-studied KD-associated gene, and solute carrier 11a1 (SLC11A1), which is associated with the hypersensitive reaction to the BCG strain in Koreans. MATERIALS AND METHODS: Associations between KD and SNPs in two genes were evaluated. Potential associations between BCG injection site erythema and SNPs in two genes were also evaluated. Gene-gene interactions between ITPKC and SLC11A1 in KD and BCG injection site erythema were also analyzed. RESULTS: Three tagging SNPs in ITPKC and five tagging SNPs in SLC11A1 were genotyped in 299 KD patients and 210 control children. SNP rs28493229 in ITPKC was associated with KD and coronary artery complications. SNP rs77624405 in SLC11A1 was associated with KD. Comparisons of KD patients with and without BCG injection site erythema revealed that SNP rs17235409 in SLC11A1 was associated with erythema; no erythema-associated SNPs in ITPKC were identified. Interactions between ITPKC rs28493229_GG and SLC11A1 rs17235409_GA and between ITPKC rs10420685_GG and SLC11A1 rs17235409_AA were strongly associated with BCG injection site erythema. CONCLUSION: This study identified several important polymorphisms in the ITPKC and SLC11A1 genes in Koreans. The genetic variants identified in this study affected KD and erythema of BCG injection sites independently and through gene-gene interactions. Also, the effects of the polymorphisms were age-dependent.