ESPE Abstracts

Introduction: Serum glycated albumin (GA) is a glycemic marker reflecting the average serum glucose values for the previous 2 weeks. The purpose of this study was to evaluate the usefulness of serum GA as a glycemic index complementing glycosylated hemoglobin (HbA1c) in children and adolescents.Methods: Fifty-four children and adolescents with diabetes mellitus (DM) and 98 children and adolescents without DM (Non-DM) wer...

Introduction: Primary polydipsia is rare during adolescence and is known to be associated with psychiatric disorders or psychological stress. Differential diagnosis includes endocrine, neurologic, renal, and iatrogenic causes.Case Report: A 14-year-old male presented with polydipsia and polyuria that persisted for 6 years. His fluid intake was about 9 liters a day and he woke up for voiding once or two times every night....

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...

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...

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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...

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...

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 ...

Purpose: The goal of treatment for true precocious puberty (TPP) and early puberty with GnRH agonist (GnRHa) is to prevent loss of genetic potential of target height (TH). And to regress secondary sex characteristics appropriate for patient’s age. But some patient’s growth velocity (GV) after treatment would decline and suggest that final height (FH) was not improved. So, we investigated the effect of combined GH and GnRHa treatment for near-FH (NFH) improvement....

Background: Prader–Willi Syndrome (PWS) is a complex genetic disease; one hallmark of the disease is failure to regulate hunger and metabolism. Hyperphagia and severe obesity contribute significantly to the morbidity and mortality of this disease. Methionine aminopeptidase 2 (MetAP2) inhibition reduces fat biosynthesis and stimulates fat oxidation and lipolysis. Beloranib is a selective and potent MetAP2 inhibitor. In a 4-week phase 2, placebo-controlled, proof-of-concept...