Epidemiologic and Clinical Outcomes of Pediatric Renal Tumors in Korea: A Retrospective Analysis of The Korean Pediatric Hematology and Oncology Group (KPHOG) Data.

PURPOSE: Renal tumors account for approximately 7% of all childhood cancers. These include Wilms tumor (WT), clear cell sarcoma of the kidney (CCSK), malignant rhabdoid tumor of the kidney (MRTK), renal cell carcinoma (RCC), congenital mesoblastic nephroma (CMN) and other rare tumors. We investigated the epidemiology of pediatric renal tumors in Korea. MATERIALS AND METHODS: From January 2001 to December 2015, data of pediatric patients (0-18 years) newly-diagnosed with renal tumors at 26 hospitals were retrospectively analyzed. RESULTS: Among 439 patients (male, 240), the most common tumor was WT (n=342, 77.9%), followed by RCC (n=36, 8.2%), CCSK (n=24, 5.5%), MRTK (n=16, 3.6%), CMN (n=12, 2.7%), and others (n=9, 2.1%). Median age at diagnosis was 27.1 months (range 0-225.5) and median follow-up duration was 88.5 months (range 0-211.6). Overall, 32 patients died, of whom 17, 11, 1, and 3 died of relapse, progressive disease, second malignant neoplasm, and treatment-related mortality. Five-year overall survival and event free survival were 97.2% and 84.8% in WT, 90.6% and 82.1% in RCC, 81.1% and 63.6% in CCSK, 60.3% and 56.2% in MRTK, and 100% and 91.7% in CMN, respectively (p < 0.001). CONCLUSION: The pediatric renal tumor types in Korea are similar to those previously reported in other countries. WT accounted for a large proportion and survival was excellent. Non-Wilms renal tumors included a variety of tumors and showed inferior outcome, especially MRTK. Further efforts are necessary to optimize the treatment and analyze the genetic characteristics of pediatric renal tumors in Korea.

Patients' and parents' satisfaction with, and preference for, haemophilia A treatments: a cross-sectional, multicentre, observational study.

INTRODUCTION: Reports on patients' satisfaction and preferred characteristics for treatments would be worthwhile when choosing an optimal treatment reflecting patients' perspectives. AIM: To identify the characteristics and treatment patterns of patients with haemophilia A, or their caregivers, in Korea and explore patient preferences and satisfaction with their treatment. METHODS: This cross-sectional, multicentre, observational study was conducted from April 2018 to September 2019 at six nationwide hospitals and three Korea Hemophilia Foundation clinics. Patients aged ≥16 years, or legal caregivers of paediatric patients, who had used factor VIII (FVIII) concentrates for ≥1 month were enrolled. Satisfaction with treatment was measured using the Treatment Satisfaction Questionnaire for Medication (TSQM); preference was evaluated using discrete choice experiment (DCE), with 10 series of two hypothetical treatment options created from D-efficient block design, which varied across five attributes. RESULTS: Overall, 505 patients (mean age 31 years) were enrolled in the study. Patients had received FVIII concentrate for an average of 102.9 months (prophylaxis: 53.5%; on-demand: 22.2%). Mean TSQM scores were 64.6 (effectiveness domain), 97.9 (side effects), 57.1 (convenience) and 66.8 (global satisfaction). The number of vials per injection, and the frequency of drug administration, was significantly associated with treatment satisfaction. According to DCE, simpler treatment options were preferred by patients/caregivers. CONCLUSION: The lowest satisfaction levels were shown in the treatment convenience domain. Patients/parents preferred simpler and easier treatment characteristics. In an attempt to enhance the overall satisfaction of patients and caregivers with treatment, consideration of more convenient characteristics is required in future decisions regarding treatment selection.

A Novel de novo Mutation in ANK1 Gene Identified through Targeted Next-Generation Sequencing in a Neonate with Hereditary Spherocytosis.

Hereditary spherocytosis (HS) is a congenital disorder of the red blood cell membrane and is characterized by hemolytic anemia, variable jaundice, and splenomegaly. In neonates, the diagnosis of HS can be difficult in the absence of family history. Herein, we describe clinical and molecular genetic findings in a Korean neonate with HS. A one-month-old girl presented with severe anemia and jaundice. Spherocytes were frequently observed on peripheral blood smear, but the erythrocyte osmotic fragility test result was normal. Targeted next-generation sequencing (NGS) revealed the patient was heterozygous for a novel frameshift mutation, c.191_194del (p.Leu64Argfs*7), in exon 3 of ANK1 gene. Family study was performed by direct sequencing, and neither of her parents carried this mutation. The patient also harbored the UGT1A1*6 allele. To the best of our knowledge, this ANK1 mutation identified by targeted NGS has not been reported previously.

Erratum: Correction of Affiliations in the Article "Clinical Characteristics and Treatment Outcomes in Children, Adolescents, and Young-adults with Hodgkin's Lymphoma: a KPHOG Lymphoma Working-party, Multicenter, Retrospective Study".

This corrects the article on p. e393 in vol. 35, PMID: 33258329.

Clinical Characteristics and Treatment Outcomes in Children, Adolescents, and Young-adults with Hodgkin's Lymphoma: a KPHOG Lymphoma Working-party, Multicenter, Retrospective Study.

BACKGROUND: Hodgkin's lymphoma (HL) constitutes 10%-20% of all malignant lymphomas and has a high cure rate (5-year survival, around 90%). Recently, interest has increased concerning preventing secondary complications (secondary cancer, endocrine disorders) in long-term survivors. We aimed to study the epidemiologic features and therapeutic outcomes of HL in children, adolescents, and young adults in Korea. METHODS: We performed a multicenter, retrospective study of 224 patients aged < 25 years diagnosed with HL at 22 participating institutes in Korea from January 2007 to August 2016. RESULTS: A higher percentage of males was diagnosed at a younger age. Nodular sclerosis histopathological HL subtype was most common, followed by mixed cellularity subtype. Eighty-one (36.2%), 101 (45.1%), and 42 (18.8%) patients were classified into low, intermediate, and high-risk groups, respectively. Doxorubicin, bleomycin, vinblastine, dacarbazine was the most common protocol (n = 102, 45.5%). Event-free survival rate was 86.0% ± 2.4%, while five-year overall survival (OS) rate was 96.1% ± 1.4%: 98.7% ± 1.3%, 97.7% ± 1.6%, and 86.5% ± 5.6% in the low, intermediate, and high-risk groups, respectively (P = 0.021). Five-year OS was worse in patients with B-symptoms, stage IV disease, high-risk, splenic involvement, extra-nodal lymphoma, and elevated lactate dehydrogenase level. In multivariate analysis, B-symptoms and extra-nodal involvement were prognostic factors for poor OS. Late complications of endocrine disorders and secondary malignancy were observed in 17 and 6 patients, respectively. CONCLUSION: This is the first study on the epidemiology and treatment outcomes of HL in children, adolescents, and young adults in Korea. Future prospective studies are indicated to develop therapies that minimize treatment toxicity while maximizing cure rates in children, adolescents, and young adults with HL.

Epidemiological Study of Hereditary Hemolytic Anemia in the Korean Pediatric Population during 1997-2016: a Nationwide Retrospective Cohort Study.

BACKGROUND: Hereditary hemolytic anemia (HHA) is a rare disease characterized by premature red blood cell (RBC) destruction due to intrinsic RBC defects. The RBC Disorder Working Party of the Korean Society of Hematology established and updated the standard operating procedure for making an accurate diagnosis of HHA since 2007. The aim of this study was to investigate a nationwide epidemiology of Korean HHA. METHODS: We collected the data of a newly diagnosed pediatric HHA cohort (2007-2016) and compared this cohort's characteristics with those of a previously surveyed pediatric HHA cohort (1997-2006) in Korea. Each participant's information was retrospectively collected by a questionnaire survey. RESULTS: A total of 369 children with HHA from 38 hospitals distributed in 16 of 17 districts of Korea were investigated. RBC membranopathies, hemoglobinopathies, RBC enzymopathies, and unknown etiologies accounted for 263 (71.3%), 59 (16.0%), 23 (6.2%), and 24 (6.5%) of the cases, respectively. Compared to the cohort from the previous decade, the proportions of hemoglobinopathies and RBC enzymopathies significantly increased (P < 0.001 and P = 0.008, respectively). Twenty-three of the 59 hemoglobinopathy patients had immigrant mothers, mostly from South-East Asia. CONCLUSION: In Korea, thalassemia traits have increased over the past 10 years, reflecting both increased awareness of this disease and increased international marriages. The enhanced recognition of RBC enzymopathies is due to advances in diagnostic technique; however, 6.5% of HHA patients still do not have a clear diagnosis. It is necessary to improve accessibility of diagnosing HHA.

Successful Sirolimus Treatment for Korean Patients with Activated Phosphoinositide 3-kinase δ Syndrome 1: the First Case Series in Korea.

Activated phosphoinositide 3-kinase δ syndrome (APDS)1 is caused by gain-of-function mutations in PIK3CD, which encodes the catalytic p110δ subunit of phosphoinositide 3 kinase. We describe three patients with APDS1, the first thereof in Korea. Therein, we investigated clinical manifestations of APDS1 and collected data on the efficacy and safety profile of sirolimus, a mammalian target of rapamycin inhibitor and pathway-specific targeted medicine. The same heterozygous PIK3CD mutation was detected in all three patients (E1021K). After genetic diagnosis, all patients received sirolimus and experienced an excellent response, including amelioration of lymphoproliferation and improvement of nodular mucosal lymphoid hyperplasia in the gastrointestinal tract. The median trough level of sirolimus was 5.5 ng/mL (range, 2.8-7.5) at a dose of 2.6-3.6 mg/m². Two patients who needed high-dose, short-interval, immunoglobulin-replacement treatment (IGRT) had a reduced requirement for IGRT after initiating sirolimus, and the dosing interval was extended from 2 and 3 weeks to 4 weeks. The IgG trough level after sirolimus treatment (median, 594 mg/dL; range, 332-799 mg/dL) was significantly higher than that before sirolimus treatment (median, 290 mg/dL; range, 163-346 mg/dL) (p<0.001). One episode of elevated serum creatinine with a surge of sirolimus (Patient 2) and episodes of neutropenia and oral stomatitis (Patient 1) were observed. We diagnosed the first three patients with APDS1 in Korea. Low-dose sirolimus may alleviate clinical manifestations thereof, including hypogammaglobulinemia.

Korean parents' perceptions of the challenges and needs on school re-entry during or after childhood and adolescent cancer: a multi-institutional survey by Korean Society of Pediatric Hematology and Oncology.

BACKGROUND: For children and adolescents with cancer, going back to school is a key milestone in returning to "normal life." PURPOSE: To identify the support vital for a successful transition, we evaluated the parents' needs and the challenges they face when their children return to school. METHODS: This multi-institutional study was conducted by the Korean Society of Pediatric Hematology and Oncology. The written survey comprised 24 questions and was completed by 210 parents without an interviewer. RESULTS: Most parents (165 of 206) reported that their children experienced difficulties with physical status (n=60), peer relationships (n=30), academic performance (n=27), emotional/behavioral issues (n=11), and relationships with teachers (n=4) on reentering school. Parents wanted to be kept informed about and remain involved in their children's school lives and reported good parent-teacher communication (88 of 209, 42.1%). Parents reported that 83.1% and 44.9% of teachers and peers, respectively, displayed an adequate understanding of their children's condition. Most parents (197 of 208) answered that a special program is necessary to facilitate return to school after cancer therapy that offers emotional support (n=85), facilitates social adaptation (n=61), and provides tutoring to accelerate catch up (n=56), and continued health care by hospital outreach and school personnel (n=50). CONCLUSION: In addition to scholastic aptitude-oriented programs, emotional and psychosocial support is necessary for a successful return to school. Pediatric oncologists should actively improve oncology practices to better integrate individualized school plans and educate peers and teachers to improve health literacy to aid them in understanding the needs of children with cancer.

Molecular Genetics of von Willebrand Disease in Korean Patients: Novel Variants and Limited Diagnostic Utility of Multiplex Ligation-Dependent Probe Amplification Analyses.

BACKGROUND: von Willebrand disease (VWD), characterized by quantitative or qualitative defects of von Willebrand factor (VWF), is the most common inheritable bleeding disorder. Data regarding the genetic background of VWD in Korean patients is limited. To our knowledge, this is the first comprehensive molecular genetic investigation of Korean patients with VWD. METHODS: Twenty-two unrelated patients with VWD were recruited from August 2014 to December 2017 (age range 28 months-64 years; male:female ratio 1.2:1). Fifteen patients had type 1, six had type 2, and one had type 3 VWD. Blood samples were collected for coagulation analyses and molecular genetic analyses from each patient. Direct sequencing of all exons, flanking intronic sequences, and the promoter of VWF was performed. In patients without sequence variants, multiplex ligation-dependent probe amplification (MLPA) was performed to detect dosage variants. We adapted the American College of Medical Genetics and Genomics guidelines for variant interpretation and considered variants of uncertain significance, likely pathogenic variants, and pathogenic variants as putative disease-causing variants. RESULTS: VWF variants were identified in 15 patients (68%): 14 patients with a single heterozygous variant and one patient with two heterozygous variants. The variants consisted of 13 missense variants, one small insertion, and one splicing variant. Four variants were novel: p.S764Efs*16, p.C889R, p.C1130Y, and p.W2193C. MLPA analysis in seven patients without reportable variants revealed no dosage variants. CONCLUSIONS: This study revealed the spectrum of VWF variants, including novel ones, and limited diagnostic utility of MLPA analyses in Korean patients with VWD.

Thyroid function in obese Korean children and adolescents: Korea National Health and Nutrition Examination Survey 2013-2015.

PURPOSE: In recent years, there has been an increasing focus on thyroid function in pediatric obese patients, but no nationwide study evaluating the relationship between thyroid function and obesity has yet been conducted in Korea. We aimed to evaluate thyroid dysfunction in obese Korean children. METHODS: We analyzed the associations between obesity and thyroid hormone levels among 975 Korean boys and girls aged 10-18 years and who participated in the Korean National Health and Nutrition Examination Survey VI (2013-2015). RESULTS: Average serum thyrotropin (TSH) and serum free thyroxine (fT4) levels in the nonobese group were 2.7±0.1 µIU/mL and 1.3±0.0 ng/dL, respectively, and those in the overweight group were 3.1±0.2 µIU/mL and 1.2±0.0 ng/dL. Serum TSH level was significantly higher in the abdominal obesity group than in the normal group (P=0.023). fT4 level was significantly lower in both the overweight and abdominal obesity groups than in the normal group (P<0.001, P=0.014). Serum TSH level was associated positively with abdominal obesity and levels of high-density lipoprotein cholesterol and triglyceride. Serum fT4 level was negatively correlated with abdominal obesity (P=0.014). CONCLUSION: Korean children with abdominal obesity showed increased TSH and decreased fT4 levels compared to normal children.

School performance of childhood cancer survivors in Korea: A multi-institutional study on behalf of the Korean Society of Pediatric Hematology and Oncology.

OBJECTIVE: To investigate school performance of childhood cancer survivors focusing on the child's functioning, including peer relationships, school attendance, and academic achievement. METHODS: We studied 241 children from 15 institutions in Korea between 2015 and 2016. The self-reported paper-and-pencil questionnaires were used. RESULTS: Approximately 22% of the survivors suffered from lack of friends. Bullying was reported by 30% of survivors. Survivors who returned to primary school reported a higher incidence of bullying compared with survivors who returned to middle or high school (P = 0.03). The percentage of children who missed classes more than 4 days in a month was higher in survivors with brain tumors than those with other tumors (P = 0.04). Approximately 41% of children reported learning difficulty. After returning to school, 53% of the patients reported that they had lower overall mark averages than they had before. Patients who returned to high school showed the highest rate of repeating a grade and the lowest rate of achieving high academic marks. The school marks in the Korean (P = 0.03), English (P = 0.04), and physical education (P = 0.04) were worse for the children with brain tumors than for the children with other tumors. CONCLUSION: We found that 20% to 25% of survivors experienced peer-related difficulties upon returning to school. Patients who return to school, especially high school, should be provided more educational support to overcome low academic achievement. Particular concern is needed to the patients with brain tumors, who are at risk for significant academic and social difficulties and therefore may require more intensive support in school.

Safety and Efficacy of B-domain Deleted Third Generation Recombinant Factor VIII (GreenGene F™) in Korean Patients with Hemophilia A: Data from a Post-marketing Surveillance Study.

BACKGROUND: New B-domain deleted third generation recombinant factor VIII (FVIII; GreenGene F™, beroctocog alfa) was launched in 2010. We determined safety and efficacy of GreenGene F™ during routine clinical practice in patients with hemophilia A over a period of 12 months. METHODS: From July 2010 to July 2014, a total of 136 hemophilia A patients were enrolled in a post-marketing surveillance (PMS) study. Among them, 134 patients were assessed for drug safety and 114 patients were analyzed for drug efficacy. Patients with differing hemophilia A severities and medical histories were monitored during 12 months of prophylactic and/or on-demand therapy. RESULTS: Among 134 patients evaluated, 85 (63.4%) had severe hemophilia. Ninety-two received a total of 1,266,077 units for prophylaxis, and 42 received 516,491 units for bleeding episodes. Three patients developed inhibitors. In 112 previously treated patients, one patient (0.9%) developed inhibitor after intensive FVIII treatment for surgery. Among 22 previously untreated patients, inhibitors were observed in 2 infants (9.1%). Overall, there were a total of 47 adverse events (other than inhibitors) of all types in 30 patients (22.4%), 11 in 10 patients (7.5%) of which were considered showing serious adverse events (SAEs); most of which were hemorrhages at different sites. None of the SAEs were judged as product related. An excellent/good efficacy rate of 91.3% for hemostasis and 89.4% for hemorrhage prevention was recorded. CONCLUSION: The results of this PMS study support the use of GreenGene F™ as safe and efficacious in hemorrhage prevention and treatment of hemophilia A. These results are consistent with the findings from previously published GreenGene F™ studies.

The effect of low-dose intravenous bisphosphonate treatment on osteoporosis in children with quadriplegic cerebral palsy.

PURPOSE: Quadriplegic children with cerebral palsy are more susceptible to osteoporosis because of various risk factors that interfere with bone metabolism. Pamidronate is effective for pediatric osteoporosis, but there are no guidelines for optimal dosage or duration of treatment in quadriplegic children with osteoporosis. We aimed to evaluate the efficacy of low-dose pamidronate treatment in these patients. METHODS: Ten quadriplegic patients on antiepileptic drugs (6 male, 4 female patients; mean age, 10.9±5.76 years), with osteoporosis and gross motor function classification system level V, were treated with pamidronate (0.5-1.0 mg/kg/day, 2 consecutive days) every 3-4 months in a single institution. The patients received oral supplements of calcium and vitamin D before and during treatment. The lumbar spine bone mineral density (BMD) z score and biochemical markers of bone metabolism were measured regularly during treatment. RESULTS: The main underlying disorder was perinatal hypoxic brain damage (40%, 4 of 10). The mean cumulative dose of pamidronate was 4.49±2.22 mg/kg/yr, and the mean treatment period was 10.8±3.32 months. The BMD z score of the lumbar spine showed a significant increase from -4.22±1.24 before treatment to -2.61±1.69 during treatment (P=0.008). Alkaline phosphatase decreased during treatmentn (P=0.037). Significant adverse drug reactions and new fractures were not reported. CONCLUSION: Low-dose pamidronate treatment for quadriplegic children with cerebral palsy increased lumbar BMD and reduced the incidence of fracture.

Phosphorus as predictive factor for erectile dysfunction in middle aged men: A cross sectional study in Korea.

PURPOSE: High serum inorganic phosphorus level is related with atherosclerosis and an elevated risk of cardiovascular disease. At the same time, the association of phosphorus with erectile dysfunction (ED) is not well reported. We studied the effect of serum phosphorus on ED and the relationship with other clinical variables. MATERIALS AND METHODS: From March to September 2013, 1,899 police men aged 40 to 59 years who entered in a prostate health screening were targeted. All subjects underwent a clinical checking using the International Index of Erectile Function-5 (IIEF-5) questionnaire translated into Korean. Serum prostate-specific antigen (PSA), testosterone, inorganic phosphorus, body mass index, metabolic syndrome (MetS), and prostate ultrasound were also examined. RESULTS: Serum inorganic phosphorus (r=-0.108, p<0.001) had the highest correlation coefficient with IIEF-5 score other than age, followed by prostate volume (PV) (r=-0.065, P<0.001). Using logistic regression analysis, age, phosphorus, and MetS were predictive factors for moderate to severe ED in univariate analysis. PSA, testosterone, body mass index, and PV could not predict ED. Age, MetS, and phosphorus were independent predictive factors of moderate to severe ED (p<0.001; odds ratio [OR], 1.119; 95% confidence interval [CI] 1.086-1.153; p=0.048; OR, 1.283; 95% CI, 1.003-1.641; and p=0.048; OR, 1.101; 95% CI, 1.076-1.131) in the multivariate analysis. CONCLUSIONS: In our study, phosphorus level is related with ED. Phosphorus is a significant predictor of ED and a strong factor that can be modified in the middle-age. Controlling phosphorus in men may have a particular meaning of preventing the occurrence of ED.

Characteristics and Outcomes of Second Malignant Neoplasms after Childhood Cancer Treatment: Multi-Center Retrospective Survey.

This retrospective study investigated the clinical characteristics and outcomes of second malignant neoplasms (SMNs) in survivors of childhood cancer from multiple institutions in Korea. A total of 102 patients from 11 institutions who developed SMN after childhood cancer treatment between 1998 and 2011 were retrospectively enrolled. The most common primary malignant neoplasms (PMNs) were central nervous system (CNS) tumors (n = 17), followed by acute lymphoblastic leukemia (n = 16), non-Hodgkin lymphoma (n = 13), and osteosarcoma (n = 12). The most common SMNs were therapy-related myeloid neoplasms (t-MNs; acute myeloid leukemia [AML], 29 cases; myelodysplastic syndrome [MDS], 12 cases), followed by thyroid carcinomas (n = 15) and CNS tumors (n = 10). The median latency period was 4.9 years (range, 0.5-18.5 years). Among 45 patients with solid tumors defined as an SMN, 15 (33%) developed the lesion in a field previously subjected to radiation. The 5-year overall survival (OS) rate of patients with an SMN was 45% with a median follow-up time of 8.6 years. Patients with AML, MDS, and CNS tumors exhibited the poorest outcomes with 5-year OS rates of 18%, 33%, and 32%, respectively, whereas those with second osteosarcoma showed comparable outcomes (64%) to patients with primary counterpart and those with second thyroid carcinoma had a 100% OS rate. Further therapeutic efforts are recommended to improve the survival outcomes in patients with SMNs, especially in cases with t-MNs and CNS tumors.

Obesity in Korean Men: Results from the Fourth through Sixth Korean National Health and Nutrition Examination Surveys (2007~2014).

PURPOSE: Obesity is related to many diseases, including urological conditions. We investigated the prevalence, risk factors, and treatment of male obesity. MATERIALS AND METHODS: This study included 17,485 men older than 20 years of age who participated in the fourth, fifth, and sixth administrations of the Korean National Health and Nutrition Examination Survey. Two main cutoff points for obesity were defined: a body mass index (BMI) ≥25 kg/m(2) and a BMI≥30 kg/m(2). Additionally, we defined obesity requiring pharmacotherapy as the presence of a BMI≥30 kg/m(2) or a BMI≥27 kg/m(2) co-occurring with at least one associated comorbid medical condition, such as hypertension, dyslipidemia, or diabetes. RESULTS: The prevalence rates of a BMI≥25 kg/m(2), a BMI≥30 kg/m(2), and obesity requiring pharmacotherapy were 35.7%, 3.4%, and 10.5%, respectively. The prevalence of obesity increased over time for all definitions of obesity. The prevalence of obesity requiring pharmacotherapy was highest in Jeju (12.5%) and lowest in Gangwon-do (7.7%). Having a higher income, being a non-manual worker, and having completed a high level of education were significantly related to obesity requiring pharmacotherapy. More than 70% of patients with obesity requiring pharmacotherapy reported taking diet pills, eating functional foods, or consuming a one-food diet for weight reduction, but only 13.9% reported exercising for this purpose. CONCLUSIONS: Male obesity is a common condition, the prevalence of which is expected to continue to increase over time. A better strategy is required to manage male obesity in Korea.

Early onset of puberty in an obese boy with Klinefelter syndrome.

Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty and hypergonadotropic hypogonadism. However, it has been known that they have a broad spectrum of phenotype ranging from almost normal external appearances to typical phenotype. Only 25% KS Patients are ever diagnosed because KS remains unrecognized. Also, boys with KS have an onset of pubertal development within the normal range, not delayed onset of puberty. Adolescents with KS are generally diagnosed as having the lack of pubertal progress. Early detection of KS can be difficult without awareness. We report an unusual case of early onset of puberty in obese boy with KS who presented with a unilateral non-hormone secreting testicular teratoma.

Prevalence and Relationships of Iron Deficiency Anemia with Blood Cadmium and Vitamin D Levels in Korean Women.

Anemia, iron deficiency (ID), and iron deficiency anemia (IDA) are common disorders. This study was undertaken to determine the prevalence of anemia, ID, and IDA in Korean females. We examined the associations between IDA, heavy metals in blood, vitamin D level and nutritional intakes. The study was performed using on data collected from 10,169 women (aged ≥ 10 yr), including 1,232 with anemia, 2,030 with ID, and 690 with IDA during the fifth Korea National Health and Nutrition Examination Survey (KNHANES V; 2010-2012). Prevalence and 95% confidence intervals were calculated, and path analysis was performed to identify a multivariate regression model incorporating IDA, heavy metals in blood, vitamin D level, and nutritional intakes. The overall prevalence of anemia, ID and IDA was 12.4%, 23.11%, and 7.7%, respectively. ID and IDA were more prevalent among adolescents (aged 15-18 yr; 36.5% for ID; 10.7% for IDA) and women aged 19-49 yr (32.7% for ID; 11.3% for IDA). The proposed path model showed that IDA was associated with an elevated cadmium level after adjusting for age and body mass index (ß=0.46, P<0.001). Vitamin D levels were found to affect IDA negatively (ß=-0.002, P<0.001). This study shows that the prevalence of anemia, ID, and IDA are relatively high in late adolescents and women of reproductive age. Path analysis showed that depressed vitamin D levels increase the risk of IDA, and that IDA increases cadmium concentrations in blood. Our findings indicate that systematic health surveillance systems including educational campaigns and well-balanced nutrition are needed to control anemia, ID, and IDA.

Iron deficiency anemia in infants and toddlers.

BACKGROUND: In Korea, the prevalence of anemia and iron deficiency anemia (IDA) among older infants and young children remains high. To detect IDA early and to reduce its adverse impact, we assessed the characteristics of infants and young children who had IDA or were at risk of developing IDA, or who exhibited characteristics associated with severe anemia. METHODS: Among the 1,782 IDA-affected children aged 6 months to 18 years who visited the hospital, we retrospectively analyzed the medical records and laboratory data of 1,330 IDA-affected children aged 6-23 months who were diagnosed between 1996 and 2013. We excluded patients with a C-reactive protein level ≥5 mg/dL. RESULTS: IDA was predominant in boys (2.14:1) during infancy and early childhood. The peak IDA incidence was noted among infants aged 9-12 months. Only 7% patients exhibited symptoms of IDA, while 23.6% patients with severe IDA demonstrated classic symptoms/signs of IDA. Low birth weight (LBW) infants with IDA demonstrated low adherence to iron supplementation. In a multivariate analysis, prolonged breastfeeding without iron fortification (odds ratio [OR] 5.70), and a LBW (OR 6.49) were identified as risk factors of severe anemia. CONCLUSION: LBW infants need more attention in order to increase their adherence to iron supplementation. For the early detection of IDA, nutritional status of all infants, and iron batteries of high-risk infants (LBW infants, infants with prolonged breastfeeding, picky eaters, and/or infants with the presence of IDA symptoms) should be evaluated at their health screening visits.