ESPE Abstracts

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...

Background: Prader-Willi syndrome (PWS) is a genetic disorder associated with developmental delay, obesity, and obsessive behavior related to food consumption. Treatment options for weight control in those patients is limited and there are controversies for a surgical approach. Saxenda® (liraglutide) injection 3 mg is indicated as an adjunct to a reduced-calorie diet and increased physical activity for chronic weight management in adult patients with obes...

Background: Genetics plays a strong role in height. However, for most patients, no cause for the short stature can identified. Whole-exome sequencing (WES) is becoming an increasingly important tool for detecting novel genetic causes of short stature. Blood is the preferred DNA source for germline studies using WES. However, DNA from saliva is a more convenient and cost-effective alternative.Objectives: We aim to identif...

Purpose: This study aimed to describe gene mutations and growth outcome in patients with 21-hydroxylase deficiencyMethods: Subjects were diagnosed as 21-hydroxylase deficiency by direct Sanger sequencing or multiple ligation-dependent probe amplification analysis and visited Pusan National University Children's Hospital from July 2008 to April 2019.We investigated the genotype, phenotype and growth profiles.<p cl...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Objectives: Dyslipidemia begins and continues in youth and is a major risk factor for adult-onset cardiovascular disease. The aim of this study was to investigate the prevalence and trend of dyslipidemia in Korean youth and its trends for 10 years.Methods: Study subjects were Korean youth aged 10-18 years who participated in the Korea National Health and Nutrition Examination Survey (KNHANES). A total of 7,466 eligible p...

Background: Prediabetes often precedes type 2 diabetes, which is associated with obesity and increased risk of developing cardiovascular disease. Haemoglobin A1c (HbA1c) has been recently recommended as a useful tool for the diagnosis of diabetes and prediabetes.Objective and hypotheses: We investigated whether prediabetes according to HbA1c was associated with cardiometabolic risk factors in Korean children and adolescents.Method:...

Purpose: The aims of this study were to identify the secular changes of WC and WHR, to compare WC with the prior Korean reference, to confirm the distribution of mean WHR values by age and sex, and to determine if WHR cutoff value of 0.5 is an appropriate predicting factor of cardiometabolic risk in childhood, using nationally representative data in children and adolescents.Methods: We performed a retrospective, cross-se...

Background: Early age at menarche was associated with obesity, insulin resistance, metabolic syndrome, cardiovascular disease (CVD), and mortality in adulthood. Besides, a mother's age at menarche has been suggested to be a likely contributor to a daughter's early menarche. Therefore, this study aimed to determine whether a mother's earlier age at menarche is a risk factor for a daughter's early menarche, obesity, and short stature in young...

Background: GnRH analogues are the treatment of choice for central precocious puberty. It has been proven beneficial effects on final adult height, but the reproductive function has many debate especially about PCOS. The criteria used for the diagnosis of PCOS can be more difficult to judge because it is not uniform between the studies.Method: The Medline, Cochrane, EMBASE, Web of Science, SCOPUS data bases were searched for studies published up to Janua...