hrp0092p1-339 | Fat, Metabolism and Obesity (2) | ESPE2019

Elevated High-Sensitivity C-Reactive Protein Level is Associated with Prediabetes and Adiposity in Korean Children and Adolescents.

Shin Sohyun , Kim Jaehyun

Objectives: Obesity is a chronic low-grade inflammatory condition that increases the risk of cardiovascular disease. Elevated high-sensitivity C-reactive protein (hs-CRP) has been associated with cardiovascular disease, type 2 diabetes, and metabolic syndrome in adults. We investigated whether hs-CRP represents a risk factor for obesity and cardiometabolic diseases in Korean children and adolescents using nationally representative data.<...

hrp0086wg2.2 | ESPE Obesity Working Group (OWG) | ESPE2016

Bariatric Surgery in Obese Adolescents

Dahlgren Jovanna

Background: Childhood obesity is a serious medical condition where excess body fat negatively affects a child’s health. Although prevention is the primary step, there will be obese adolescents who benefit from bariatric surgery. There are four bariatric methods (all using laparoscopic technique): Adjustable Gastric Banding (AGB), Roux-en Y Gastric bypass (RYGB), sleeve gastrectomy and Bilio-Pancreatic Diversion (BPD). In Sweden we predominantly use RYGB as it improves eat...

hrp0082fc7.4 | Growth promoting therapies | ESPE2014

A Decade of Clinical Experience in a Swedish University Centre Using Prediction Models to Optimize GH Treatment in Prepubertal Children

Dahlgren Jovanna

Background: The individual growth response on a certain GH dose is an indirect measurement of tissue responsiveness to GH. Several models of predicting the first year growth response on GH treatment are published and a clinical trial has been performed based on these algorithms. However, no clinical unit has evaluated the practical use of these prediction models on GH treatment.Objective and Hypotheses: To use prediction models in clinical practice to ch...

hrp0082p2-d1-412 | Growth Hormone | ESPE2014

ALS Deficiency due to a Novel and Two Already Described IGFALS Gene Mutations in an Unusual Non Consanguineous Family: Two Compound Heterozygous (Father and Son) and Two Heterozygous Carriers (Brother and Mother)

Scaglia Paula , Keselman Ana , Martucci Lucia , Karabatas Liliana , Ballerini Maria Gabriela , Domene Sabina , Johanna Acosta , Jasper Hector , Domene Horacio

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

hrp0095p2-176 | Growth and Syndromes | ESPE2022

A case of 1q21 recurrent microdeletion syndrome with growth hormone deficiency, facial dysmorphism, and microcephaly

A Kim Hyun , Kim Jinsup , Ju Lee Hyun , Yang Aram

1q21.1 recurrent microdeletion syndrome is a rare chromosomal disorder caused by a genetic abnormality of non-allelic homologous recombination in the sequence of flanking a copy number variation event during meiosis. The characteristic features of 1q21 microdeletion syndrome are dysmorphic facial appearances with microcephaly, and mild to moderate developmental delay of speech and motor, eye abnormality, short stature, skeletal malformation, and psychiatric and behavioral diso...

hrp0092p1-83 | GH and IGFs | ESPE2019

Identification of Novel Recessive IGFALS Mutations and INSR Variant in an Obese Korean Boy

Kim Yoo-Mi , Lim Han Hyuk , Kim Seon Young

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

hrp0092p3-156 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Status of Children and Adolescent Born Full Term Small-for-Gestational-Age in Korea: Data from the KNHANES-V (2010–2011)

Kim Ji Hyun , Kim Dong Ho , Lim Jung Sub

Background: Currently, little information is available on current growth status according to birth weight at gestational age (BWGA) on Korean adolescents. Herein, the current height and weight of Korean adolescents who were born as small for gestational age (SGA) were compared to those of the non-SGA groups.Methods: Data from the population-based nationwide Korean survey 5th Korea National Health and Nutrition Examinatio...

hrp0086p1-p819 | Syndromes: Mechanisms and Management P1 | ESPE2016

Clinical and Molecular Characterization of a Newly Recognized Overgrowth Syndrome: Interstitial 7q22.1-7q22.3 Microdeletion

Cheon Chong Kun , Kim Yoo-Mi , Kim Su Young

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

hrp0082p2-d2-304 | Bone (1) | ESPE2014

Age-and Gender-Specific Reference Values of Bone Mineral Density in Korean Adolescents and Young Adults

Hye Kim Shin , Jung Park Mi , Hee Kim Duk

Background: Low bone mass during growth may increase risk of fracture. Adequate reference data for bone mineral density (BMD) are needed to identify adolescents with bone deficit.Objective and hypotheses: We aimed to provide normative values and reference curves for BMD in Korean adolescents and young adults.Method: Using the data from Korean Nutrition Health and Nutrition Examination Survey (KNHANES) in 2008–2011, a total of ...