ESPE Abstracts

Objectives: We investigated the trajectories in hemoglobin A1C (A1C) levels among transition-aged patients (age from 15 to 22 years) with type 1 diabetes (T1D).Methods: Among the patients diagnosed with type 1 diabetes in pediatric age between 2001 and 2013 in Seoul National University Children’s Hospital, 119 patients (54 males and 65 females) with a diagnostic age for under 14 and measurement of A1C at least once...

Inborn Errors of Immunity (IEI) include more than 400 disorders representing aberrant function or development of the immune system. Recently, more attention has been paid to the interaction between the immune and endocrine systems. In this study, we aimed to investigate endocrine disorders in a cohort of IEI. We investigated the prevalence, clinical, and laboratory features of endocrine disorders in patients who were diagnosed with IEI from 1994 to 2022 in Samsung Medical Cent...

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...

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...

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

Hypophosphatasia (HPP) is a genetic skeletal disease caused by loss-of-function mutations of ALPL encoding tissue-nonspecific alkaline phosphatase (TNSALP). The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pain, and pathologic fractures. The diagnosis is based on clinical examination, radiographic findings, biochemical parameters of ...

Purpose: Pheochromocytoma (PCC) and paraganglioma (PGL) (PPGL) are rare neuroendocrine tumors, and there is little information on how to treat them in children and adolescents. The objective of this study was to demonstrate the clinical presentation and treatment outcomes in children and adolescents with PPGL in a single Korean tertiary care hospital.Methods: Korean patients diagnosed with PCC and PGL before the age of 2...

Background/purpose: Graves’ disease (GD) is an autoimmune disorder characterized by hyperthyroidism, diffuse goiter, and/or ophthalmopathy that is caused by the activation of the thyroid-stimulating hormone (TSH) receptor by thyrotropin receptor antibodies (TRAb). GD is the most common cause of thyrotoxicosis in children and adolescents, accounting for 10-15% of all thyroid illness in children and adolescents. The treatment of GD in children and adolesce...

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy. Various biomarkers have been proposed, but their role in the obese pediatric population is uncertain. We investigated renal injury markers in children with diabetes, according to obesity, and determined their role as early predictors of diabet...