ESPE Abstracts

Background: The diagnosis of growth hormone deficiency (GHD) requires the subnormal responses to two provocation tests. This study evaluated the value of the growth hormone provocation test using arginine and insulin-induced hypoglycemia to diagnose growth hormone deficiency (GHD).Method: This study included 294 children with short stature (136 girls and 158 boys) who underwent a growth hormone provocation test using the...

Introduction: Estrogen treatment can be used for pediatric patients with Marfan syndrome who wish to control the rate of excessive height growth. However, the appropriate timing of treatment initiation is controversial and studies were limited. In this study, the authors aimed to find out when the initiation of estradiol therapy is most appropriate for controlling height growth rate in patients with Marfan syndrome.Methods:</stro...

Introduction: Hypothyroidism without elevation of thyroid-stimulating hormone level during oxcarbazepine use in children and adolescent. There have been studies on the association of oxcarbazepine, which is used as an anticonvulsant, with hypothyroidism, but studies in children and adolescents have been limited. The authors aimed to determine the effects of long-term oxcarbazepine on thyroid function in children and adolescents.M...

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...

This study aimed to evaluate the long-term safety and effectiveness of recombinant human growth hormone (rhGH; Eutropin®, Eutropin®Pen, Eutropin®AQ, and Eutropin®Plus, LG Chem, Ltd.) treatment in Korean pediatric patients. This observational study has been conducted since 2011, and the data were collected up to August 2021 for interim analysis. The incidence rates of all adverse events (AEs) were assessed for safety a...

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...

Background: The Toll-like receptors are germline-encoded receptors that play an essential role in initiating the immune response against pathogens.Objective and hypotheses: We aimed to assess the association of TLRs polymorphism with autoimmune thyroid disease (AITD) in Korean children.Method: We define the polymorphism of TLR10, rs4129009, rs11096956, rs10004195 in 85 Korean AITD (GD=50, HD=35; M=16, F=69, mean age=12.9 3.1 years)...

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

Objective: The role of incretins in type 2 diabetes (T2D) is controversial. This study investigated the association between incretin levels in obese Korean children and adolescents with T2D.Patients and methods: We performed a 2-h oral glucose tolerance test in obese children and adolescents with T2D and with normal glucose tolerance. Twelve obese children and adolescents with newly diagnosed T2D (DM group) and 12 obese age-matched subjects without T2D (...

Objectives: This study aimed to analyze dosing patterns of recombinant human growth hormone (rhGH) (Eutropin® Inj\., Eutropin®Pen Inj., and Eutropin®AQ Inj. for daily injection, and Eutropin®Plus Inj. for weekly injection, LG Chem, Ltd.) using the collected data of the LG Growth Study (LGS) in Korean pediatric patients with growth disorders including growth hormone deficiency (GHD), idiopathic sho...