ESPE Abstracts

Background: Permanent neonatal diabetes mellitus is caused by mutations in the KATP channel subunits. DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome is the most severe form of permanent neonatal diabetes. We experienced a patient with DEND syndrome, who was initially misdiagnosed as type 1 diabetes, who has been successfully switched from insulin injection to oral sulfonylurea therapy.Case presentation: A 50-day-old male ...

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

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...

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

Purpose: This study aimed to analyze growth patterns during the first two years after birth according to the birth weight and length percentile in children born preterm, and to investigate factors affecting postnatal growth of these children.Methods: Eighty-two preterm neonates with a gestational age below 37 weeks who followed up until 24 months of corrected age (CA) were retrospectively reviewed. Length, weight and hea...

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 ...

This study aimed to compare cut-off points corrected for age and gender (CCOP) with fixed cut-off points (FCOP) for fasting plasma insulin and homeostasis model assessment-insulin resistance (HOMA-IR) for the diagnosis of IR in Korean obese children and adolescents and to identify IR applying CCOP and FCOP using as outcome the presence of dyslipidemia and Metabolic syndrome (MetS).We performed a cross sectional analysis of data from 195 adolescents aged ...

Purpose: To investigate overall characteristics of glucose intolerance in childhood survivors of hematologic diseases and suggest risk factors which increase A1c (glycated hemoglobin) level.Methods: Based on a retrospective review of 394 children who were diagnosed with acute leukemia or aplastic anemia between 2015 and 2016 under the age of 15, glucose intolerance was observed in 14 patients. A definition of glucose intolerance was A1c above 5.7%. Auxol...

Purpose: To analyze the effects of clinical and laboratory factors, including insulin-like growth factor (IGF) levels, on the height velocity of normal prepubertal children.Methods: Ninety-five healthy prepubertal children (33 boys, 62 girls) were enrolled. The mean chronological age of the participants was 6.3±1.4 years, with a height standard deviation score (SDS) of −0.88±0.70. IGF-1, IGF binding protein-3 (IGFBP-3), SDS for anthropome...