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: Gonadal or sexual dysfunctions are common and important complications of childhood cancer survivors. But few studies have been conducted on these areas, and if any, they are only about gonadal dysfunctions. Semen quality or sexual functions were rarely investigated.Objective and hypotheses: We purposed to evaluate prevalence of gonadal failure, semen abnormality, and sexual dysfunction of adolescent/young adult childhood cancer survivors. Ris...

Purpose: In recent years, there has been an increasing focus on thyroid function in pediatric obese patients, but no nationwide study evaluating the relationship between thyroid function and obesity has yet been conducted in Korea. We aimed to evaluate thyroid dysfunction in obese Korean children.Methods: We analyzed the association between obesity and thyroid hormone levels among 975 Korean boys and girls aged 10–18 years, who participated in the K...

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:...

Objectives: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without a mineralized bone to early loss of teeth without bone symptoms. We aimed to report a patient with HP presenting with fibrous dysplasia.Methods:</st...

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...

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...