ESPE Abstracts

Background: Rare genetic diseases of obesity are often driven by gene variants in the melanocortin-4 receptor (MC4R) pathway. The MC4R agonist setmelanotide demonstrated significant reductions in body weight in patients ≥6 years old with various rare genetic diseases of obesity, including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency and Bardet-Biedl syndrome (BBS). While these condit...

Congenital hyperinsulinism (CHI) is an ultra-rare disease characterized by excessive insulin secretion that results in persistent hypoglycemia. If left untreated, CHI-induced severe prolonged hypoglycemia may lead to permanent neurologic damage. Currently used pharmacologic agents fail to prevent hypoglycemia in a subset of patients with CHI. HM15136 is a novel long-acting glucagon analogue that have demonstrated good stability and extended half-life ranging from 77 to 167 hou...

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

Background: Pediatric thyroid cancer has characteristics that are distinct from adulthood thyroid cancer. Due to its very low prevalence, little is known about the genetic characteristics of pediatric follicular thyroid cancer (FTC).Methods: We investigated genetic alterations in tumor tissues from 15 patients aged < 20 years (median: 14.3 years; range: 2.4-19.0 years) using multifaceted approaches. Whole-exome seque...

Introduction: Adrenarche refers to the increase in adrenal androgen synthesis. However, process of adrenal androgen production in early childhood remains to be elucidated. The aim of this study was to evaluate changes in adrenal androgen levels and steroidogenic enzyme activities associated with adrenarche using a prospective cohort.Methods: A total of 229 children (124 boys, 52.4%), who had participated in the Envir...

Background: Improved patient and graft survival post-liver transplantation has led to a parallel increase in metabolic syndrome (MS) reported in multiple centres. We aimed to study the prevalence and risk factors of metabolic complications in our paediatric liver transplant (LT) cohort.Methods: This was a retrospective review of the LT database from 1995-2018. We studied the incidence of overweight, obesity (WHO BMI crit...

We report a term male with diazoxide-unresponsive congenital hyperinsulinism (CHI) (spontaneous conception, non-consanguineous, no family history). The patient did not have macroglossia, exomphalos or lateralised overgrowth (cardinal Beckwith-Wiedemann spectrum (BWSp) features) (1). There was no polyhydramnios, macrosomia, facial naevus simplex, ear creases/pits, diastasis recti or nephromegaly/hepatomegaly (suggestive BWSp features) (1).A targeted massi...

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

Objectives: This study aimed to evaluate the long-term safety and effectiveness of recombinant human growth hormone (rhGH) (Eutropin® Inj.., Eutropin®Pen Inj., Eutropin®AQ Inj., and Eutropin®Plus Inj., LG Chem, Ltd.) based on the interim analysis of a 7-year accumulated data of the LG Growth Study (LGS) in Korean pediatric patients with growth disorders including growth hormone deficiency (GHD), T...

Objective: Ketosis-prone diabetes (KPD), characterized by presentation with diabetic ketoacidosis (DKA) in patients lacking the typical features of autoimmune type 1 diabetes, is a heterogeneous syndrome. The objective of this study is to ascertain the presence of A-β+ (autoantibody-negative, β-cell functional reserve) KPD in Korean children and adolescents and to study their characteristics in this group. Method: Diabetes ...