ESPE Abstracts

Background: Rare genetic causes of obesity include variants in genes within the melanocortin-4 receptor (MC4R) pathway, a principal regulator of energy balance. Weight and hunger reductions following treatment with the MC4R agonist setmelanotide have been demonstrated in patients with obesity due to variants in multiple genes, including POMC, LEPR, SRC1, and SH2B1. We describe a trial design of setmelanotide in patients with addition...

Objectives: Convenience of growth hormone (GH) use can lead to good adherence and result in satisfactory treatment outcomes. The aim of this study is to compare the long-term efficacy of weekly GH with daily GH in children with GH deficiency (GHD).Methods: Clinical data of 966 GHD children (773 treated with daily GH and 193 treated with weekly GH) were obtained from the “LG Growth Study”, which is an observat...

Background: Serum dihydrotestosterone (DHT) is an important analyte for the clinical assessment of disorders of sex development. It is also reportedly a difficult analyte to measure. Currently there are significant gaps in the standardisation of this analyte, including no external quality assurance (EQA) program available worldwide to allow for peer performance review of DHT.Objective and hypotheses: We therefore proposed to establish an EQA program for ...

Background: Daily GH has been used to treat growth disorders in children for a long time. The weekly sustained-release GH formulation has been approved for treatment in GH deficiency (GHD). It provides a practical strategy for improving adherence. However, there is still a lack of sufficient clinical research data of weekly GH.Objective and hypotheses: To evaluate the long-term safety and effectiveness of two formulations of daily (Eutropin injection) an...

Background: Variants in SH2B1 or a 220–kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with severe, early-onset obesity and hyperphagia. The melanocortin-4 receptor (MC4R) agonist setmelanotide is being investigated in individuals with rare variants in genes in the MC4R pathway.Methods: This ongoing, Phase 2 study (NCT03013543) enrolled individuals aged ≥6...

Purpose: The 3-month gonadotropin-releasing hormone analogs (GnRHa) are expected to achieve better compliance in central precocious puberty (CPP) patients, but the 1-month depot remains the dominant choice for conventional treatment worldwide. Our study aimed to investigate the long-term efficacy of 3-month GnRHa for the treatment of CPP.Methods: In this retrospective study, 69 Korean girls diagnosed with CPP were includ...

Purpose: Bisphenol A (BPA) is endocrine disrupting chemicals used to manufacture plastics such as epoxy resins and polycarbonate polymers. BPA has weak estrogenic and strong anti-androgenic effects and has also been linked to disruption of thyroid function in previous studies. This study aims to investigate the relationship between urinary bisphenol A exposure in early childhood and thyroid hormone of pubertal children in Korea.M...

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...

The aim of this study was to investigate that exposure metabolites of phthalate one of the endocrine disruptors might be different in sex and might have influenced from obesity and insulin resistance in Korean children and adolescents. Nationwide data of 551 subjects aged 8-15 years (boys 281 and girls 270) who were included the study from 2010-2011. Subjects were grouped by sex and BMI percentile (normal: BMI<85p; overweight: 85P≤BMI<95p; obese: ≥95p). We...

Purpose: The association between appendicular skeletal muscle mass (ASM) and cardiometabolic risk has been emphasized. We estimated reference values of the percentage of ASM (PASM) and investigated its association with metabolic syndrome (MS) in Korean adolescents.Methods: Data from Korea National Health and Nutrition Examination Survey performed between 2009 and 2011 was used. Tables and graphs of reference PASM were ge...