Journal Detail Information

1

Cite

Share

A 1-month-old infant with chylomicronemia due to GPIHBP1 gene mutation treated by plasmapheresis.

Mo Kyung JUNG ; Juhyun JIN ; Hyun Ok KIM ; Ahreum KWON ; Hyun Wook CHAE ; Seok Jin KANG ; Duk Hee KIM ; Ho Seong KIM

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):68-71. doi:10.6065/apem.2017.22.1.68

Chylomicronemia is a severe type of hypertriglyceridemia characterized by chylomicron accumulation that arises from a genetic defect in intravascular lipolysis. It requires urgent and proper management, because serious cases can be accompanied by pancreatic necrosis or persistent multiple organ failure. We present the case of a 1-month-old infant with chylomicronemia treated by plasmapheresis. His chylomicronemia was discovered incidentally when lactescent plasma was noticed during routine blood sampling during a hospital admission for fever and irritability. Laboratory investigation revealed marked triglyceridemia (>5,000 mg/dL) with high chylomicron levels. We therefore decided to perform a therapeutic plasmapheresis to prevent acute pancreatitis. Sequence analysis revealed a homozygous novel mutation in exon 4 of GPIHBP1: c.476delG (p.Gly159Alafs). Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) stabilizes the binding of chylomicrons near lipoprotein lipase and supports lipolysis. Mutations of GPIHBP1, the most recently discovered gene, can lead to severe hyperlipidemia and are known to make up only 2% of the monogenic mutations associated with chylomicronemia. The patient maintains mild hypertriglyceridemia without rebound after single plasmapheresis and maintenance fibrate medication so far. Here, we report an infant with chylomicronemia due to GPIHBP1 mutation, successfully treated by plasmapheresis.
Chylomicrons ; Exons ; Fever ; Humans ; Hyperlipidemias ; Hypertriglyceridemia ; Infant* ; Infant, Newborn* ; Lipolysis ; Lipoprotein Lipase ; Multiple Organ Failure ; Necrosis ; Pancreatitis ; Plasma ; Plasmapheresis* ; Sequence Analysis

2

Cite

Share

A rare association of central hypothyroidism and adrenal insufficiency in a boy with Williams-Beuren syndrome.

Devi DAYAL ; Dinesh GIRI ; Senthil SENNIAPPAN

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):65-67. doi:10.6065/apem.2017.22.1.65

Primary hypothyroidism related to morphological and volumetric abnormalities of the thyroid gland is one of the commonest of several endocrine dysfunctions in Williams-Beuren syndrome (WBS). We report a 10-month-old boy with WBS who presented with central hypothyroidism. During the neonatal period, he had prolonged jaundice, feeding difficulties and episodes of colic that continued during early infancy. Additionally, there was slowing of growth and mild developmental delay. He underwent surgical repair for supravalvular aortic stenosis at 6 months of age. An evaluation done to exclude cortisol deficiency before initiating levothyroxine lead to the detection of secondary adrenal insufficiency, unreported previously in WBS. In addition, insulin-like growth factor-1 (IGF-1) and IGF-binding protein-3 levels were low. This report of hypopituitarism in WBS indicates a need for complete evaluation of pituitary dysfunction in children with WBS.
Adrenal Insufficiency* ; Aortic Stenosis, Supravalvular ; Child ; Colic ; Humans ; Hydrocortisone ; Hypopituitarism ; Hypothyroidism* ; Infant ; Jaundice ; Male* ; Thyroid Gland ; Thyroxine ; Williams Syndrome*

3

Cite

Share

Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.

Hyun Jin KIM ; Yoon Myung KIM ; Eungu KANG ; Beom Hee LEE ; Jin Ho CHOI ; Han Wook YOO

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):60-64. doi:10.6065/apem.2017.22.1.60

Hemochromatosis is an inherited or secondary disorder caused by excessive iron storage leading to multiple organ damage. We describe 2 patients with diabetes mellitus caused by hemochromatosis secondary to multiple blood transfusions due to severe aplastic anemia. Subject 1, who was diagnosed with severe aplastic anemia at 15 years of age, received multiple red blood cell transfusions before he underwent autologous peripheral blood stem cell transplantation (PBSCT) at 22 years of age. At 21 years of age, hyperglycemia was detected with increased hemoglobin A1c and serum ferritin levels, 9.7% and 12,910 ng/mL (normal range, 20–320 ng/mL), respectively. The 24-hour urine C-peptide level was normal with negative antiglutamic acid decarboxylase antibody. Subsequently, metformin and an iron-chelating agent were administered. However, an intensive insulin regimen was necessary 2 years after the onset of diabetes. Subject 2, who was diagnosed with severe aplastic anemia at 2 years of age, received multiple blood transfusions until she underwent haploidentical PBSCT at 13 years of age. At 11 years of age, she developed diabetes mellitus with a high serum ferritin level (12,559.8 ng/mL). She is currently 18 years old and has been treated with an intensive insulin regimen and estrogen/progesterone replacement therapy because of hypogonadotropic hypogonadism. It is presumed that the loss of insulin secretory capacity and insulin resistance played a role in the pathogenesis of diabetes mellitus due to hemochromatosis in these cases.
Anemia, Aplastic* ; Blood Transfusion* ; C-Peptide ; Diabetes Mellitus* ; Erythrocyte Transfusion ; Ferritins ; Hemochromatosis* ; Humans ; Hyperglycemia ; Hypogonadism ; Insulin ; Insulin Resistance ; Iron ; Metformin ; Peripheral Blood Stem Cell Transplantation

4

Cite

Share

Growth without growth hormone in combined pituitary hormone deficiency caused by pituitary stalk interruption syndrome.

Sang Soo LEE ; A Leum HAN ; Moon Bae AHN ; Shin Hee KIM ; Won Kyoung CHO ; Kyoung Soon CHO ; So Hyun PARK ; Min Ho JUNG ; Byung Kyu SUH

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):55-59. doi:10.6065/apem.2017.22.1.55

Growth hormone (GH) is an essential element for normal growth. However, reports of normal growth without GH have been made in patients who have undergone brain surgery for craniopharyngioma. Normal growth without GH can be explained by hyperinsulinemia, hyperprolactinemia, elevated leptin levels, and GH variants; however, its exact mechanism has not been elucidated yet. We diagnosed a female patient aged 13 with combined pituitary hormone deficiency (CPHD) caused by pituitary stalk interruption syndrome (PSIS). The patient has experienced recurrent hypoglycemic seizures since birth, but reached the height of 160 cm at the age of 13, showing normal growth. She grew another 8 cm for 3 years after the diagnosis, and she reached her final adult height of 168 cm which was greater than the midparental height, at the age of 16. The patient's blood GH and insulin-like growth factor-I levels were consistently subnormal, although her insulin levels were normal. Her physical examination conducted at the age of 15 showed truncal obesity, dyslipidemia, and osteoporosis, which are metabolic features of GH deficiency (GHD). Herein, we report a case in which a PSIS-induced CPHD patient attained her final height above mid parental height despite a severe GHD.
Adult ; Brain ; Craniopharyngioma ; Diagnosis ; Dyslipidemias ; Female ; Growth Hormone* ; Humans ; Hyperinsulinism ; Hyperprolactinemia ; Insulin ; Leptin ; Obesity ; Osteoporosis ; Parents ; Parturition ; Physical Examination ; Pituitary Gland* ; Seizures

5

Cite

Share

The different effects of gonadotropin-releasing hormone agonist therapy on body mass index and growth between normal-weight and overweight girls with central precocious puberty.

Won Jun YANG ; Keun Hyeok KO ; Kon Hee LEE ; Il Tae HWANG ; Yeon Joung OH

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):49-54. doi:10.6065/apem.2017.22.1.49

PURPOSE: The effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on body mass index (BMI) are controversial in girls with central precocious puberty (CPP). We therefore evaluated auxological parameters during GnRHa therapy in patients with CPP, specifically focusing on changes in BMI. METHODS: Seventy-seven girls with idiopathic CPP who underwent GnRHa therapy were retrospectively recruited. We investigated BMI changes during the treatment period after stratifying them according to baseline BMI status as follows: normal (BMI percentile of <85th) and overweight groups (BMI percentile of ≥85th). RESULTS: The incidence of overweight/obesity (40.3%/23.4%) was very high in the girls with CPP. In the overall study population, no significant BMI change was observed during the GnRHa treatment period. However, when stratified according to baseline BMI status, the normal-weight group showed a significant increase in BMI-standard deviation score (SDS), whereas the overweight group showed no change in BMI-SDS. Baseline BMI-SDS was an independent predictor of changes in BMI during the GnRHa treatment period. Changes in weight-SDS were similar, but changes in height-SDS were significantly greater in the overweight group than in the normal-weight group, which explains the observed difference in BMI-SDS. CONCLUSION: Our results demonstrate that the difference in the pattern of BMI changes among our CPP patients suggests that delayed puberty induced by GnRHa treatment may have different effects on linear growth according to baseline body composition. This study underscores the importance of individualized lifestyle intervention in CPP children.
Body Composition ; Body Mass Index* ; Child ; Female* ; Gonadotropin-Releasing Hormone* ; Humans ; Incidence ; Life Style ; Obesity ; Overweight* ; Puberty, Delayed ; Puberty, Precocious* ; Retrospective Studies

6

Cite

Share

The effect of first nocturnal ejaculation timing on risk and sexual behaviors of Korean male adolescents.

Mi Ji LEE ; Go Eun YANG ; Hee Won CHUEH ; Jae Hong PARK ; Jae Ho YOO

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):43-48. doi:10.6065/apem.2017.22.1.43

PURPOSE: This study evaluated the effect of first nocturnal ejaculation timing on risk and sexual behaviors of Korean male adolescents. METHODS: We analyzed data from the 10th edition of the Korea Youth Risk Behavior Web-based survey that was conducted with male high school adolescents in grades 10–12. The survey included 17,907 adolescents, and 10,326 responded their experience of first nocturnal ejaculation. Of these, 595 had their first nocturnal ejaculation in ≤grade 4 (“early puberty”) and 9,731 had their first nocturnal ejaculation in ≥grade 5 (“normal puberty”). We analyzed differences between these 2 groups in risk and sexual behaviors. RESULTS: Early first nocturnal ejaculation showed a positive association with sexual intercourse (odds ratio [OR], 3.27; 95% confidence interval [CI], 2.56–4.17), sexual debut at elementary school age (OR, 7.45; 95% CI, 5.00–11.10), and having had a sexually transmitted disease (OR, 6.60; 95% CI, 3.94–11.08). After a multiple logistic regression to adjust for socio-demographic variables, early first nocturnal ejaculation was still positively associated with sexual intercourse (OR, 2.73; 95% CI, 2.03–3.69), sexual debut at elementary school age (OR, 5.96; 95% CI, 3.47–10.22), and having had a sexually transmitted disease (OR, 5.17; 95% CI, 2.52–10.20). Early first nocturnal ejaculation was positively associated with alcohol consumption, smoking, and substance use. However, this was not statistically significant after adjusting for several socio-demographic variables. CONCLUSION: There is a positive association between early nocturnal ejaculation and sexual behaviors in male adolescents. Proactive education about sexual behaviors is required for adolescents who reach sexual maturity early.
Adolescent* ; Alcohol Drinking ; Coitus ; Education ; Ejaculation* ; Humans ; Korea ; Logistic Models ; Male ; Male* ; Puberty ; Risk-Taking ; Sexual Behavior* ; Sexually Transmitted Diseases ; Smoke ; Smoking

7

Cite

Share

Influence of The -202 A/C insulin-like growth factor-binding protein-3 promoter polymorphism on individual variation in height in Korean girls.

Min Ju YI ; Tae Young PARK ; Il Tae HWANG ; Seung YANG

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):36-42. doi:10.6065/apem.2017.22.1.36

PURPOSE: The most common single nucleotide polymorphism in the IGFBP3 promoter region occurs at position -202. This polymorphic variation occurs frequently and may influence growth hormone responsiveness and somatic growth. However, the effects of IGFBP3 promoter polymorphism on growth in children are unknown. METHODS: Restriction fragment length polymorphism-based genotyping of the -202 single nucleotide polymorphism was performed in 146 Korean girls aged between 15 and 16 years, who were selected randomly from the Seoul School Health Promotion Center. The participants were divided into 3 groups (tall, medium, and short) according to the height percentile established from normal reference values for Korean children. The serum levels of insulin-like growth factor I (IGF-I) and IGF-binding protein-3 (IGFBP-3) were then compared according to genotype. RESULTS: The genotype distribution in the participants was 79 AA (54.1%), 60 AC (41.1%), and 7 CC (4.8%). The C allele frequency at the -202 IGFBP3 position was 25.4% in this group. The mean serum IGFBP-3 concentration in girls with the AA genotype was higher than that in girls with the AC genotype in the medium (P=0.047) and short (P=0.035) groups, respectively. There was no difference in the IGF-I to IGFBP-3 molar ratio between the AA and AC genotype groups (P=0.161). CONCLUSION: In conclusion, the -202 polymorphism in the IGFBP3 promoter region is assumed to affect the serum concentration of IGFBP-3 in children as well as in adults. However, it is unclear whether this affects physical development according to the concentration of IGFBP-3.
Adult ; Body Height ; Child ; Female* ; Gene Frequency ; Genotype ; Growth Hormone ; Humans ; Insulin-Like Growth Factor Binding Protein 3 ; Insulin-Like Growth Factor I ; Molar ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Reference Values ; School Health Services ; Seoul

8

Cite

Share

Change in body mass index and insulin resistance after 1-year treatment with gonadotropin-releasing hormone agonists in girls with central precocious puberty.

Jina PARK ; Jae Hyun KIM

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):27-35. doi:10.6065/apem.2017.22.1.27

PURPOSE: Gonadotropin-releasing hormone agonist (GnRHa) is used as a therapeutic agent for central precocious puberty (CPP); however, increased obesity may subsequently occur. This study compared body mass index (BMI) and insulin resistance during the first year of GnRHa treatment for CPP. METHODS: Patient group included 83 girls (aged 7.0–8.9 years) with developed breasts and a peak luteinizing hormone level of ≥5 IU/L after GnRH stimulation. Control group included 48 prepubertal girls. BMI and insulin resistance-related indices (homeostasis model assessment of insulin resistance [HOMA-IR] and quantitative insulin sensitivity check index [QUICKI]) were used to compare the groups before treatment, and among the patient group before and after GnRHa treatment. RESULTS: No statistical difference in BMI z-score was detected between the 2 groups before treatment. Fasting insulin and HOMA-IR were increased in the patient group; fasting glucose-to-insulin ratio and QUICKI were increased in the control group (all P<0.001). In normal-weight subjects in the patient group, BMI z-score was significantly increased during GnRHa treatment (−0.1±0.7 vs. 0.1±0.8, P<0.001), whereas HOMA-IR and QUICKI exhibited no differences. In overweight subjects in the patient group; BMI z-score and HOMA-IR were not significantly different, whereas QUICKI was significantly decreased during GnRHa treatment (0.35±0.03 vs. 0.33±0.02, P=0.044). CONCLUSION: Girls with CPP exhibited increased insulin resistance compared to the control group. During GnRHa treatment, normal-weight individuals showed increased BMI z-scores without increased insulin resistance; the overweight group demonstrated increased insulin resistance without significantly altered BMI z-scores. Long-term follow-up of BMI and insulin resistance changes in patients with CPP is required.
Body Mass Index* ; Breast ; Fasting ; Female* ; Follow-Up Studies ; Gonadotropin-Releasing Hormone* ; Humans ; Insulin Resistance* ; Insulin* ; Luteinizing Hormone ; Obesity ; Overweight ; Puberty, Precocious*

9

Cite

Share

Glucagon-like peptide-1 and glucagon-like peptide-1 receptor agonists in the treatment of type 2 diabetes.

Seungah LEE ; Dong Yun LEE

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):15-26. doi:10.6065/apem.2017.22.1.15

The prevalence of type 2 diabetes (T2D) is increasing worldwide. Patients with T2D suffer from various diabetes-related complications. Since there are many patients with T2D that cannot be controlled by previously developed drugs, it has been necessary to develop new drugs, one of which is a glucagon-like peptide-1 (GLP-1) based therapy. GLP-1 has been shown to ameliorate diabetes-related conditions by augmenting pancreatic β-cell insulin secretion and having the low risk of causing hypoglycemia. Because of a very short half-life of GLP-1, many researches have been focused on the development of GLP-1 receptor (GLP-1R) agonists with long half-lives such as exenatide and dulaglutide. Now GLP-1R agonists have a variety of dosing-cycle forms to meet the needs of various patients. In this article, we review the physiological features of GLP-1, the effects of GLP-1 on T2D, the features of several GLP-1R agonists, and the therapeutic effect on T2D.
Diabetes Complications ; Glucagon-Like Peptide 1* ; Glucagon-Like Peptide-1 Receptor* ; Half-Life ; Humans ; Hypoglycemia ; Insulin ; Prevalence

10

Cite

Share

Perfluoroalkyl substances exposure and thyroid hormones in humans: epidemiological observations and implications.

Jung Eun LEE ; Kyungho CHOI

Annals of Pediatric Endocrinology & Metabolism.2017;22(1):6-14. doi:10.6065/apem.2017.22.1.6

Thyroid hormones play crucial roles in normal neurodevelopment of fetus and child. Many chemicals can affect control and homeostasis of thyroid hormones, and eventually lead to various adverse health effects including neurodevelopmental disorders. Perfluoroalkyl substances (PFASs) are among the thyroid disrupting chemicals that can be encountered among general human population. Due to their unique physicochemical characteristics, PFASs have been used as surfactants and surface coating materials in many applications. Therefore, PFASs have been frequently detected in humans and environment worldwide. In cross-sectional studies using nationally representative general human populations of United States, several PFASs have shown significant associations with thyroid hormones. Moreover, among pregnant women and their infants, not only major PFASs such as perfluorooctane sulfonic acid and perfluorooctanoic acid, but also those with shorter or longer carbon chains showed significant associations with thyroid hormones. Often demographic characteristics such as sex, age, and disease status appear to influence the associations between PFASs exposure and thyroid hormones. In general, major PFASs showed hypothyroidism effects among pregnant women and infants. As 8 carbon based PFASs have been phased out, those with shorter or longer carbon chains have been used in growing amount as replacement. However, only limited information is available for their occurrences and toxicity among humans. Further investigations on these substituting PFASs are required. In addition, efforts are warranted to identify sources of and mitigate exposure to these thyroid disrupting chemicals especially during pregnancy and early stages of life.
Carbon ; Child ; Cross-Sectional Studies ; Environmental Monitoring ; Female ; Fetus ; Homeostasis ; Humans* ; Hypothyroidism ; Infant ; Neurodevelopmental Disorders ; Pregnancy ; Pregnant Women ; Surface-Active Agents ; Thyroid Gland* ; Thyroid Hormones* ; United States

DISPLAY OPTIONS

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share

Cite

Share