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Refractory rickets caused by mild distal renal tubular acidosis.

Ji Ho LEE ; Joo Hyun PARK ; Tae Sun HA ; Heon Seok HAN

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):152-155. doi:10.6065/apem.2013.18.3.152

Type I (distal) renal tubular acidosis (RTA) is a disorder associated with the failure to excrete hydrogen ions from the distal renal tubule. It is characterized by hyperchloremic metabolic acidosis, an abnormal increase in urine pH, reduced urinary excretion of ammonium and bicarbonate ions, and mild deterioration in renal function. Hypercalciuria is common in distal RTA because of bone resorption, which increases as a buffer against metabolic acidosis. This can result in intractable rickets. We describe a case of distal RTA with nephrocalcinosis during follow-up of rickets in a patient who presented with clinical manifestations of short stature, failure to thrive, recurrent vomiting, dehydration, and irritability.
Acidosis ; Acidosis, Renal Tubular* ; Bicarbonates ; Bone Resorption ; Dehydration ; Failure to Thrive ; Follow-Up Studies ; Humans ; Hydrogen-Ion Concentration ; Hypercalciuria ; Kidney Tubules, Distal ; Nephrocalcinosis ; Protons ; Quaternary Ammonium Compounds ; Rickets* ; Vomiting

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Insulin pump therapy in transient neonatal diabetes mellitus.

Joong Heum PARK ; Jeong Hee KANG ; Kyu Hyung LEE ; Nam Hyo KIM ; Han Wook YOO ; Dae Yeol LEE ; Eun Gyong YOO

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):148-151. doi:10.6065/apem.2013.18.3.148

Neonatal diabetes mellitus (NDM) is a rare disease requiring insulin treatment. Its treatment is primarily focused on maintaining adequate glycemic control and avoiding hypoglycemia. Although insulin pump therapy is frequently administered to adults and children, there is no consensus on the use of insulin pumps in NDM. A 10 day-old female infant was referred to us with intrauterine growth retardation and poor weight gain. Hyperglycemia was noted, and continuous intravenous insulin infusion was initiated. However, the patient's serum glucose levels fluctuated widely, and maintaining the intravenous route became difficult within the following weeks. Continuous subcutaneous insulin infusion with an insulin pump was introduced on the twenty-fifth day of life, and good glycemic control was achieved without any notable adverse effects including hypoglycemia. We suggest that the insulin pump is a safe and effective mode for treating NDM and its early adoption may shorten the length of hospital stays in patients with NDM.
Blood Glucose ; Diabetes Mellitus* ; Female ; Fetal Growth Retardation ; Humans ; Hyperglycemia ; Hypoglycemia ; Infant ; Infant, Newborn ; Insulin Infusion Systems* ; Insulin ; Length of Stay ; Rare Diseases ; Weight Gain

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

Yeon Jin JEON ; In Ah JUNG ; Shin Hee KIM ; Won Kyoung CHO ; Seung Hee JEONG ; Kyoung Soon CHO ; So Hyun PARK ; Min Ho JUNG ; Byung Kyu SUH

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):141-147. doi:10.6065/apem.2013.18.3.141

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) > or =95th percentile for age and sex or a BMI > or =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 microU/L vs. 30.6+/-1.3 microU/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 (beta=21.196, P=0.016). CONCLUSION: Serum ferritin levels appear to be associated with obesity in Korean male adolescents.
Adolescent* ; Blood Glucose ; Blood Pressure ; Body Mass Index ; Cholesterol ; Cross-Sectional Studies ; Female ; Ferritins* ; Humans ; Insulin ; Leukocytes ; Lipoproteins ; Male* ; Nutrition Surveys* ; Obesity* ; Prevalence ; Triglycerides

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Depression and self-concept in girls with perception of pubertal onset.

Ji Hyeon YANG ; Sang Woo HAN ; Chan Woo YEOM ; Yong Jun PARK ; Wha Su CHOI ; Ji Young SEO ; Young Jin KOO

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):135-140. doi:10.6065/apem.2013.18.3.135

PURPOSE: Early pubertal timing in girls is associated with psychological and behavioral problems. This study aimed to evaluate the psychological features of girls who perceived breast development beginning by analyzing their depression levels and self-concept. METHODS: From March 2007 to December 2012, 93 girls were enrolled and assigned to a pre-8 (younger than 8 years, n=43) or post-8 (8 years and older, n=50) group according to the age at onset of perceived breast development, and their height, body weight, body mass index, bone age (BA), Tanner stage, and luteinizing hormone and follicle-stimulating hormone levels were examined. We investigated their psychological state with the Korean Children's Depression Inventory (CDI) and Piers-Harris Children's Self-Concept Scale (PHCSC) to evaluate depression levels and self-concept, respectively. RESULTS: The pre-8 group had a significantly greater height standard deviation score, (0.5+/-1.01 vs. 0.11+/-0.86, P = 0.048) and more advanced BA (2.07+/-1.02 years vs. 1.40+/-0.98 years, P = 0.004) compared to the post-8 group. There were no statistically significant intergroup differences for the CDI and PHCSC scores; however, the pre-8 group scored higher than the post-8 group in the physical appearance and attributes domain of the PHCSC (9.93+/-2.57 vs. 8.52+/-3.03, P = 0.017). CONCLUSION: The timing of perceived breast development among girls who thought puberty to begin did not affect depression levels and self-concept. There was no correlation between Tanner stage and depression levels and self-concept despite the perception of pubertal onset. The pre-8 group had a more positive view of their physical appearance than the post-8 group.
Adolescent ; Body Height ; Body Weight ; Breast ; Depression* ; Human ; Female ; Follicle Stimulating Hormone ; Luteinizing Hormone ; Puberty ; Self Concept ; Sexual Development

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Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

Yangho YOO ; Mi Sun CHANG ; Jieun LEE ; Sung Yoon CHO ; Sung Won PARK ; Dong Kyu JIN ; Hyung Doo PARK

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):128-134. doi:10.6065/apem.2013.18.3.128

PURPOSE: The purpose of the study was to evaluate endocrine patterns of patients with congenital adrenal hyperplasia and each gene mutation and to analyze the correlation between each phenotype and genotype. METHODS: This was a retrospective study of the patients with congenital adrenal hyperplasia in the pediatric outpatient clinic at the Samsung Medical Center from November 1994 to December 2012. We analyzed the medical records of 27 patients (male, 19; female, 8) with congenital adrenal hyperplasia who had been diagnosed by genetic testing to have 21-hydroxylase deficiency. RESULTS: In genetic analysis of 54 alleles from 27 patients, 13 types of mutations were identified. The distribution of 21-hydroxylase deficiency gene mutations revealed that intron 2 splice site (c.293-13A/C>G) mutations and large deletions were the most common, at 31.5% and 22.2% respectively, followed by p.I173N, p.R356W, and p.I172N mutations at 11.1%, 9.3%, and 9.3%, respectively. Other mutations were observed at 1.9-3.7%. No novel mutations were detected. CONCLUSION: The analysis of 54 alleles revealed 13 types of mutation. The salt wasting form showed a good correlation between genotype and phenotype, but the simple virilizing and nonclassic forms showed inconsistencies between genotype and phenotype. The distribution of CYP21A2 mutations was evaluated for 21-hydroxylase deficiency patients from a single center. This study provides limited data on mutation spectrum and genotype-phenotype correlation of 21-hydroxylase deficiency in Korea.
Adrenal Hyperplasia, Congenital* ; Alleles ; Ambulatory Care Facilities ; Female ; Genetic Association Studies* ; Genetic Testing ; Genotype ; Humans ; Introns ; Korea ; Male ; Medical Records ; Phenotype ; Retrospective Studies ; Steroid 21-Hydroxylase*

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Psychological characteristics of Korean children and adolescents with type 1 diabetes mellitus.

Eunhe CHO ; Sang Hoon SHIN ; So Hee EUN ; Ji Yeon KIM ; Hyo Kyung NAM ; Kee Hyoung LEE ; Young Jun RHIE

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):122-127. doi:10.6065/apem.2013.18.3.122

PURPOSE: This study investigates the behavioral and emotional characteristics of Korean children and adolescents with type 1 diabetes mellitus (T1DM) as compared to healthy controls, and examines whether their psychological status is associated with glycemic control, insulin regimens, or disease duration. METHODS: A total of 37 Korean children and adolescents with T1DM, aged 6-17 years, and 38 sex- and age-matched healthy controls were included in this study. Psychological distress was assessed using the Korean child behavior checklist (K-CBCL) and children's depression inventory (CDI) after the subjects and their parents were interviewed. RESULTS: The CDI and K-CBCL scores were significantly higher in T1DM subjects compared to normal controls. The T1DM subjects with "poorly controlled" blood glucose (glycosylated hemoglobin > or =8%) and "old patients" (disease duration > or =1 year) had a tendency to show higher CDI and K-CBCL scores. There were no significant differences in CDI and K-CBCL scores between the intensive and conventional insulin therapy groups. CONCLUSION: Children and adolescents with T1DM seem to have inferior psychological adjustment to their normal counterparts, which might be associated with glycemic control and disease duration. Psychological evaluation and intervention should be considered in the management of T1DM in children and adolescents.
Adaptation, Psychological ; Adolescent* ; Blood Glucose ; Checklist ; Child Behavior ; Child* ; Depression ; Diabetes Mellitus, Type 1* ; Hemoglobin A, Glycosylated ; Humans ; Insulin ; Parents

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Relationship of age at menarche on anthropometric index and menstrual irregularity in late adolescent girls in Seoul.

Seung Eun LEE ; Joo Yun YANG ; Ji Hyun LEE ; Han Wool KIM ; Hae Soon KIM ; Hye Jin LEE ; Ji Young OH ; Yeon Ah SUNG

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):116-121. doi:10.6065/apem.2013.18.3.116

PURPOSE: To examine the relationship between menarcheal age and anthropometric indices and menstrual irregularity in late adolescent girls in Seoul. METHODS: We surveyed 4,218 fertile adolescent girls between the ages of 16 and 18 years to determine their anthropometric indices and menarcheal age. Measurements were taken from June 2008 to October 2009 at seven girl's high schools in Seoul, Korea. Participants were offered self-report questionnaire as a survey tool that included questions on anthropometric indices (height, weight, waist circumference), menarcheal age, menstrual pattern, frequency of menstruation per year. RESULTS: The participants were categorized into three groups based on menarcheal age: early menarche group (younger than 2 standard deviations [SD]), mid menarche group (within +/-2 SD), late menarche group (older than 2 SD). The mean age of early menarche group was 9.9+/-0.2 years, mid menarche group 12.5+/-0.9 years, late menarche group 15.1+/-0.3 years (P < 0.001). Heights were recorded as 160.4+/-5.2 cm, 161.8+/-4.9 cm, 162.3+/-4.7 cm in early, mid, and late menarche group, respectively (P = 0.001). Body mass index (BMI) and waist circumference significantly were lager in early menarche group than mid and late menarche ones (P < 0.001). The menarcheal age had a positive correlation with height and negative correlations with weight, BMI, waist circumference (P < 0.001). The prevalence of oligomenorrhea was more frequent in late menarche group than early and mid menarche group. CONCLUSION: The menarcheal age have positive relationship with height and inverse relationship with BMI and waist circumference in late adolescent girls in Seoul. Late menarcheal girls are disposed to have menstrual irregularity compared to early menarcheal girls.
Adolescent* ; Body Height ; Body Mass Index ; Female ; Humans ; Korea ; Menarche* ; Menstruation ; Oligomenorrhea ; Prevalence ; Waist Circumference ; Surveys and Questionnaires

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Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation.

Byung Ho CHOI ; Uk Hyun KIM ; Kun Soo LEE ; Cheol Woo KO

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):111-115. doi:10.6065/apem.2013.18.3.111

PURPOSE: 45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female adults. However, reports on the phenotype of this karyotype in children are very rare. This study was done to observe various phenotypes of this karyotype in children. METHODS: Between January 2007 and December 2012, children diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype by chromosome analysis were analyzed retrospectively. RESULTS: Eight children (5 boys and 3 girls) were diagnosed with 45,XY,t(13;14)(q10;q10) or 45,XX,t(13;14)(q10;q10) karyotype. They ranged in age from 5 years and 6 months to 12 years and 4 months. The phenotypes of the study patients consisted of 1 hypogonadotrophic hypogonadism, 1 precocious puberty, 3 early puberty, 2 growth hormone deficiency (GHD) (partial) and 1 idiopathic short stature. As shown here t(13;14)(q10;q10) Robertsonian translocation shows a wide range of phenotypes. CONCLUSION: It can be said that t(13;14)(q10;q10) Robertsonian translocation shows various phenotypes from GHD to precocious puberty in children. Further large-scale studies are necessary.
Child* ; Endocrine System Diseases* ; Female ; Growth Hormone ; Humans ; Hypogonadism ; Karyotype ; Male ; Phenotype ; Puberty ; Puberty, Precocious ; Translocation, Genetic*

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Diabetes care for emerging adults: transition from pediatric to adult diabetes care systems.

Young Ah LEE

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):106-110. doi:10.6065/apem.2013.18.3.106

With the increasing prevalence of diabetes mellitus in children, transitioning patients from childhood to adulthood are increasing. High-risk behaviors and poor glycemic control during the transition period increase the risk for hypoglycemia and hyperglycemia as well as chronic microvascular and macrovascular complications. Discussions regarding complications and preparations for transition must take place before the actual transition to adult care systems. Pediatric care providers should focus on diabetes self-management skills and prepare at least 1 year prior to the transfer. Pediatric providers should also provide a written summary about previous and current glycemic control, complications and the presence of mental health problems such as disordered eating behaviors and affective disorders. Transition care should be individualized, with an emphasis on diabetes self-management to prevent acute and long-term complications. Regular screening and management of complications should proceed according to pediatric and adult guidelines. Birth control, use of alcohol, smoking and driving should also be discussed. Barriers to self-management and care must be recognized and solutions sought. The goals of transitional care are to effectively transition the diabetic patient from the pediatric to adult care system with less elapsed time in between and to improve post-transition outcome. Previous studies regarding diabetes transitional care programs including patient education programs, medical coordinators and auxiliary service systems reported promising results. However, there is a lack of evidence regarding best practices in transition care. Further studies are needed to provide evidence based transitional care programs that take both medical and psychosocial aspects of diabetes care into consideration.
Adult ; Child ; Contraception ; Diabetes Mellitus* ; Feeding Behavior ; Humans ; Hyperglycemia ; Hypoglycemia ; Mental Health ; Mood Disorders ; Patient Education as Topic ; Practice Guidelines as Topic ; Self Care ; Smoking ; Transition to Adult Care*

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Genetic syndromes associated with overgrowth in childhood.

Jung Min KO

Annals of Pediatric Endocrinology & Metabolism.2013;18(3):101-105. doi:10.6065/apem.2013.18.3.101

Overgrowth syndromes comprise a diverse group of conditions with unique clinical, behavioral and molecular genetic features. While considerable overlap in presentation sometimes exists, advances in identification of the precise etiology of specific overgrowth disorders continue to improve clinicians' ability to make an accurate diagnosis. Among them, this paper introduces two classic genetic overgrowth syndromes: Sotos syndrome and Beckwith-Wiedemann syndrome. Historically, the diagnosis was based entirely on clinical findings. However, it is now understood that Sotos syndrome is caused by a variety of molecular genetic alterations resulting in haploinsufficiency of the NSD1 gene at chromosome 5q35 and that Beckwith-Wiedemann syndrome is caused by heterogeneous abnormalities in the imprinting of a number of growth regulatory genes within chromosome 11p15 in the majority of cases. Interestingly, the 11p15 imprinting region is also associated with Russell-Silver syndrome which is a typical growth retardation syndrome. Opposite epigenetic alterations in 11p15 result in opposite clinical features shown in Beckwith-Wiedemann syndrome and Russell-Silver syndrome. Although the exact functions of the causing genes have not yet been completely understood, these overgrowth syndromes can be good models to clarify the complex basis of human growth and help to develop better-directed therapies in the future.
Beckwith-Wiedemann Syndrome* ; Epigenomics ; Genes, Regulator ; Genomic Imprinting ; Haploinsufficiency ; Humans ; Molecular Biology ; Silver-Russell Syndrome ; Sotos Syndrome*

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