In Ah Jung

Serum ferritin level is higher in male adolescents with obesity: results from the Korean National Health and Nutrition Examination Survey 2010.

Purpose Previous reports show an association between high serum ferritin levels and metabolic syndrome (MS) in adults. In adolescents, little information is available with obesity and serum ferritin levels. Methods This is a cross-sectional study. Data were obtained from the 5th Korean National Health and Nutrition Examination Survey (K-NHANES) conducted during 2010 by the Korean Ministry of Health and Welfare. A total of 849 subjects aged 10-18 years participated in the 2010 survey. A body mass index (BMI) ≥95th percentile for age and sex or a BMI ≥25 was used to diagnose as obesity. Results The weighted prevalence of obesity was 13.4% (62/462) in male and 8.5% (33/387) in female. We observed significantly higher serum ferritin in male than in female (mean±standard error [SE], 50.5±2.3 µU/L vs. 30.6±1.3 µU/L; P<0.0001). In male, serum ferritin is positively correlated with age (P<0.0001). White blood cell (WBC) count, serum fasting blood sugar, triglyceride (TG), total cholesterol, low-density lipoprotein, insulin, homeostasis model assessment-insulin resistance (HOMA-IR), systolic and diastolic blood pressure, and ferritin levels were higher and high-density lipoprotein (HDL) were lower in the obesity than in the normal group. In female adolescents, WBC count, TG, insulin, and HOMA-IR were higher and HDL were lower in the obesity than in the normal group. In male, serum ferritin levels showed positive association with obesity (β=21.196, P=0.016). Conclusion Serum ferritin levels appear to be associated with obesity in Korean male adolescents.

Insulin Resistance of Normal Weight Central Obese Adolescents in Korea Stratified by Waist to Height Ratio: Results from the Korea National Health and Nutrition Examination Surveys 2008–2010

Background. To evaluate insulin resistance of normal weight central obese 13–18-year-old male and female adolescents stratified by waist to height ratio (WHR). Methods. Data were obtained from the Korea National Health and Nutrition Examination Survey (K-NHANES) conducted during 2008–2010. Central obesity was defined as that in the upper quartile of age and sex specific WHR. Subjects were classified into no central obesity normal weight (NW), central obesity normal weight (CONW), no central obesity overweight (OW), and central obesity overweight (COOW). Results. The prevalence of CONW was 9.6% (83/832) in female and 7.0% (61/909) in male. CONW showed higher levels of insulin (P < 0.006), HOMA-IR (P < 0.006), and ALT (P < 0.001) than NW in female. CONW had higher levels of insulin (P < 0.0001), HOMA-IR (P < 0.0001), and WBC count (P < 0.021) and lower level of HDL (P < 0.0001) than NW in male. WHR and BMI had similar significant correlations with MS components. CONW showed 2.5 times (95% confidence interval, 1.21–5.00) more likelihood to have high insulin resistance than NW in male. Conclusions. Screening for central obesity using WHR in clinical setting is recommended.

Relationships of physical fitness and obesity with metabolic risk factors in children and adolescents: Chungju city cohort study.

Purpose The purpose of this study was to investigate the relationships of physical fitness and obesity with metabolic risk factors in children and adolescents. Methods This cohort study was conducted in Chungju city, South Korea. Total 843 subjects were enrolled, including 193 elementary school 4th grade male (E4M), 189 elementary school 4th grade female (E4F) and 461 male-middle school students (M1M). The subjects were also classified into 2 groups by body mass index; normal weight (NW) group and overweight included obesity (OW/OB) group. Physical fitness was measured by shuttle run (cardiorespiratory fitness, CRF), sit and reach (flexibility), handgrip strength (muscular strength) and stand long jump (agility). Results The prevalence of OW/OB was respectively 33.7% (65 of 193) among E4M, 28.6% (54 of 189) among E4F, and 28.0% (129 of 461) among M1M. Hematocrit, white blood cell, triglyceride, low-density lipoprotein, insulin, homeostasis model assessment of insulin resistance, systolic and diastolic blood pressure were higher, while high-density lipoprotein were lower in the OW/OB group than in the NW group. The OW/OB group presented significantly lower CRF (P<0.01) and lower agility, but higher muscular strength compared with NW group. CRF was negatively correlated with obesity indices and metabolic risk factors. After adjustments for potential confounders, odds ratios for 4th–5th grade CRF of OW/OB compared NW in the E4M, E4F, M1M, were 7.38 (95 % CI, 3.24–16.83), 4.10 (95% CI, 1.83–9.18), 16.06 (95% CI, 8.23–31.00) (P<0.01). Conclusion Our study has shown that CRF has negative correlation with OW/OB in children and adolescents of Chungju city. We suggest that improvement of CRF through regular physical activity would be an important method for reducing the metabolic risks of childhood obesity.

Current growth status and metabolic parameters of Korean adolescents born small for gestational age: Results from the Korea National Health and Nutrition Examination Surveys (KNHANES) 2010–2011

Currently, little information is available on current growth status and metabolic syndrome (MetS) components according to birthweight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight and MetS components of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the appropriate for GA (AGA) or large for GA (LGA) groups.

Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.

Dear Editor, Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder (OMIM 260400) characterized by exocrine pancreatic insufficiency, skeletal abnormalities, and hematologic dysfunction, with up to 30% risk of developing MDS. The SBDS gene (OMIM 607744) maps to chromosome 7q11.21, and 90% of SDS patients possess mutations of this gene [1]. To date, three SDS cases have been reported in Korea, and only one has been confirmed on the basis of SBDS genetic analysis [2, 3, 4] (Table 1). We describe two cases of unrelated Korean adolescent SDS patients. We received approval from the Institutional Review Board of Seoul St. Marys Hospital. Table 1 Clinical features of SDS patients reported in Korea A boy of 13 yr and 9 months underwent a corticotomy of the right femur and external fixation with the Ilizarov method to correct a genu valgum orthopedic deformity. While hospitalized, congenital lipomatosis of the pancreas was unexpectedly observed in an abdominal computed tomography (CT) scan for hisdyspepsia. There were no abnormal findings in his birth, family, and sibling histories. He was the younger of the two children. A brain magnetic resonance imaging (MRI) for failure to thrive (FTT) at 6 months old, growth hormone stimulation test, chromosomal analysis, and chromosomal breakage test conducted for short stature at 11 yr old and newly observed neutropenia at 13 yr old were normal. At diagnosis, the weight and height of the patient were each below the 3rd percentile (35 kg and 139 cm). The results of a peripheral blood (PB) examination were as follows: leukocyte count, 3.31×109/L (neutrophils 5%, lymphocytes 88%, monocytes 5%, and eosinophils 0%); hemoglobin, 12.3 g/dL (mean cell volume [MCV] 90.7 fL); platelet count, 109×109/L; Hb F, 1.2%. Low digestive enzyme levels with respect to amylase were found (52 U/L, normal range: 48-176 U/L), lipase was 4.0 U/L (7.0-50.0 U/L) and trypsin was less than 50 ng/mL (110-460 ng/mL). A boy of 15 yr and 6 months was accidently diagnosed as having congenital lipomatosis of the pancreas by CT scan in the course of a differential diagnosis of appendicitis. There were no abnormal findings in the birth, family, and sibling histories, and he was the youngest child of three boys. He had been followed up for mild cytopenia without transfusion in another hospital since 12 months of age, and valgus osteotomy was done for congenital coxa vara at 7 yr of age. At diagnosis, the patient was below the 3rd percentile for height and 10th percentile for weight (48 kg and 154.8 cm). The results of a PB examination were as follows: leukocytes, 3.68×109/L (neutrophils 33%, lymphocytes 56%, monocytes 10%, and eosinophils 1%); hemoglobin, 13.6 g/dL (MCV 95 fL); platelet count, 103×109/L; and Hb F, 1.8%. A low level of amylase (30 U/L, normal range: 48-176 U/L) was observed, and lipase (23.8 U/L, 7.0-50.0 U/L) and trypsin (200 ng/mL, 110-460 ng/mL) were within the normal ranges. Genomic DNA was isolated from PB leukocytes by using the QIAamp DNA Mini Kit (Qiagen, Hamburg, Germany). PCR was carried out by using gene-specific primers for exon2 of SBDS [5]. Since an unprocessed pseudogene, SBDSP, resides in a locally duplicated genomic segment of 305 kb [6], the specificities of the primers were checked by using Primer-BLAST (http://www.ncbi.nlm.nih.gov.proxy.cuk.ac.kr:8080/tools/primer-blast) and also in 10 normal controls. All mutations were described according to the Human Genome Variation Society nomenclature [7]. RefSeq ID: NM_ 016038.2 was used for the alignment. Direct sequencing of the PCR products revealed two heterozygous mutations, c.183_ 184TA>CT and c.258+2T>C, for Case 1 and a homozygous mutation c.[258+2T>C];[258+2T>C] for Case 2 (Fig. 1). Fig. 1 The chromatograms of SBDS mutations in the present SDS cases. (A) Case 1: Sequencing chromatograms of subcloned PCR products demonstrate the compound heterozygosity of c.258+2T>C (A1) and c.183_184TA>CT (A2) mutations. (B) Case 2: Direct ... We subcloned the PCR products with a TOPO TA Cloning Kit (Invitrogen, Carlsbad, CA, USA) and sequenced the products to confirm the zygosity of the mutations in Case 1. Direct sequencing of the cloned PCR products demonstrated that the two heterozygous mutations were compound heterozygous, c.[183_ 184TA>CT];[258+2T>C]. SDS is the second most common cause of inherited exocrine pancreatic dysfunction in children. A short stature seemed to be caused by intrinsic factors of SDS and risk factors such as malabsorption, delayed puberty, and infections [8]. The most frequently reported mutation type, c.[183_ 184TA>CT], forms in-frame stop codons, while c.[258+2T>C] forms truncated proteins by the destruction of donor splice sites [6]. Based on the guidelines proposed by Dror et al. [9], there was no single test to confirm the diagnosis. Genotyping may be used for diagnostic confirmation, but a negative test for SBDS mutations does not exclude the diagnosis, given that 10% of SDS individuals showed no SBDS mutations [10]. An early diagnosis of SDS is necessary to monitor the risk of hematologic malignancy and supplementary therapy for clinical symptoms.

Cerebral salt-wasting syndrome after hematopoietic stem cell transplantation in adolescents: 3 case reports

Cerebral salt-wasting syndrome (CSWS) is a rare disease characterized by a extracellular volume depletion and hyponatremia induced by marked natriuresis. It is mainly reported in patients who experience a central nervous system insult, such as cerebral hemorrhage or encephalitis. The syndrome of inappropriate antidiuretic hormone secretion is a main cause of severe hyponatremia after hematopoietic stem cell transplantation, whereas CSWS is rarely reported. We report 3 patients with childhood acute leukemia who developed CSWS with central nervous system complication after hematopoietic stem cell transplantation. The diagnosis of CSW was made on the basis of severe hyponatremia accompanied by increased urine output with clinical signs of dehydration. All patients showed elevated natriuretic peptide and normal antidiuretic hormone. Aggressive water and sodium replacement treatment was instituted in all 3 patients and 2 of them were effectively recovered, the other one was required to add fludrocortisone administration.

Birth Weight Could Influence Bone Mineral Contents of 10- to 18-Year-Old Korean Adolescents: Results from the Korea National Health and Nutrition Examination Survey (KNHANES) 2010.

Background: We investigate the relationship between birth weight (BW) and bone mineral content (BMC) in Korean adolescents. Methods: Data were obtained from the Korea National Health and Nutrition Examination Survey conducted in 2010. Baseline characteristics were compared according to age- and sex-specific BMC quartiles of total body less head (TBLH), lumbar spine (LS) and femur neck (FN) in 10- to 18-year-old adolescents (male = 474, female = 394). Results: BW showed a positive correlation with current weight-SDS (p = 0.006 in males, p = 0.008 in females). BW according to TBLH-BMC quartile groups (p for trend <0.003 in males, <0.0001 in females), LS-BMC quartile groups (p for trend <0.034 in males) and FN-BMC quartile groups (p for trend <0.008 in males, <0.020 in females) showed significant differences. The odds ratio (OR) of being in the highest BMC quartile, per 1-kg increase in BW, was significantly increased in TBLH-BMC (OR = 2.14 in males, OR = 3.26 in >16-year-old adolescents) and FN-BMC (OR = 2.62 in males, OR = 3.06 in >16-year-old adolescents) after adjusting for age, height, smoking, drinking, metabolic equivalent of task, and gestational age. Conclusion: BW might be one of the determinant factors of BMC in Korean adolescents.

Hepatic glycogenosis in type 1 diabetes mellitus mimicking Mauriac syndrome

Hepatic glycogenosis in type 1 diabetes mellitus (DM) can be caused by poor glycemic control due to insulin deficiency, excessive insulin treatment for diabetic ketoacidosis, or excessive glucose administration to control hypoglycemia. Mauriac syndrome, which is characterized by hepatomegaly due to hepatic glycogenosis, growth retardation, delayed puberty, and Cushingoid features, is a rare diabetic complication. We report a case of hepatic glycogenosis mimicking Mauriac syndrome. A 14-year-old girl with poorly controlled type 1 DM was admitted to The Catholic University of Korea, Seoul St. Marys Hospital for abdominal pain and distension. Physical examination revealed hepatomegaly and a Cushingoid face. The growth rate of the patient had decreased, and she had not yet experienced menarche. Laboratory findings revealed elevated liver enzyme levels. A liver biopsy confirmed hepatic glycogenosis. Continuous glucose monitoring showed hyperglycemia after meals and frequent hypoglycemia before meals. To control hyperglycemia, we increased insulin dosage by using an insulin pump. In addition, we prescribed uncooked cornstarch to prevent hypoglycemia. After strict blood glucose control, the patients liver functions and size normalized. The patient subsequently underwent menarche. Hepatic glycogenosis is a complication of type 1 DM that is reversible with appropriate glycemic control.

Development of diabetes mellitus after hematopoietic stem cell transplantation for childhood leukemia

Results Three patients were diagnosed as acute lymphoblastic leukemia who received total body irradiation and chemotherapy. The other two patients were diagnosed as acute myeloblastic leukemia. The mean age at HSCT was 8.0 ± 4.2 years. Four out of five patients developed chronic graft-versus-host disease (GVHD) and treated with steroid more than 2 years. The mean age at diagnosis of DM was 15.8 ± 1.8 years and the time interval between HSCT and DM was 7.8 ± 4.4 years. Three patients showed obesity depend on body mass index (>95 percentile for sex and age). No one showed antibodies related with pancreatic b-cell. All five patients showed hyperinsulinemia with mean fasting insulin levels at diagnosis of DM was 13.3 ± 9.2 μIU/mL. The mean homeostasis model assessment of insulin resistance index (HOMA-IR) of patients was 4.39 ± 2.01. Conclusion GVHD, long-term steroid treatment and insulin resistance seem to be close related to develop of DM after HSCT for treatment of childhood leukemia.

Growth effect of tki treatment in childhood CML

Aim Childhood chronic myeloid leukemia (CML) is rare myeloproliferative disorder, and diagnosed mostly in adult, representing for 10% of all CML, and accounts for up to 2-3% of all childhood leukemia. Tyrosine kinase inhibitor (TKI), mostly Imatinib mesylate, is now used in the frontline standard treatment of CML in chronic phase. The aim of this study is to investigate the growth effect of TKI treatment in childhood CML.