ESPE Abstracts

Langerhans cell histiocytosis (LCH) represents a spectrum of rare disorders characterised by idiopathic infiltration and accumulation of abnormal histiocytes (i.e. the Langerhans cells) within various tissues. Bone is the most frequently affected tissue in children with LCH, with unifocal involvement being more common than multifocal involvement. Some of these lesions can cause severe pain and lead to pathological fractures. We describe a case series of 2 patients who had rece...

Objectives: Monogenic diabetes and congenital hyperinsulinism (CHI) and are common disorders of glucose-regulated insulin secretion in childhood, with 13 causative genes known for MODY and 10 causative genes identified for CHI. Genetic testing for monogenic diabetes and CHI is important for patient care. We aimed to delineate genetic and clinical manifestations of monogenic diabetes and CHI diagnosed by targeted-exome sequencing (TES).Methods: Nine proba...

Objectives: Owing to the tremendous advances in next-generation sequencing technology, numerous monogenic causes of growth disorders have been identified. Identifying novel rare genetic causes of short stature (SS) is quite challenging. In 2017, we reported a mutation analysis of 15 patients with undiagnosed syndromic SS or overgrowth. In this study, 6 mutations in another 10 Korean patients with unexplained syndromic SS are reported. The aim of this study is ...

Backgrounds: Congenital hyperinsulinism (CHI) is a rare condition linked to several genetic, metabolic, and growth disorders in which there is dysregulated insulin secretion. Biochemical evidence of insulin-induced hypoglycemia is a prerequisite for genetic testing; however, there are no established criteria for the age at diagnosis of CHI. This study aims to investigate the genetic and clinical features of patients with CHI in a single center.<p class="ab...

Objectives: Hypophosphatasia (HP) is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without a mineralized bone to early loss of teeth without bone symptoms. We aimed to report a patient with HP presenting with fibrous dysplasia.Methods:</st...

Objectives: Diabetic ketoacidosis (DKA) and hyperosmolar hyperglycemic state (HHS) are potential life-threatening emergencies of diabetes mellitus (DM). DKA and HHS may coexist, making the treatment difficult. With increasing rates of childhood obesity and pediatric type 2 DM, cases of mixed HHS and DKA are expected to occur more frequently than before. But the frequency and implications of combined DKA/HHS in children/adolescents are not yet well known. We ai...

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

Background: Prader–Willi syndrome (PWS) is characterised by neonatal hypotonia, hypogonadism, progressive obesity, short stature, and mental retardation. This syndrome arises from a loss of expression of paternally derived genes on chromosome 15q11–13 region.Objective and hypotheses: The aim of this study was to investigate clinical characteristics and their genotypes in Korean patients with PWS.Method: The study included...

Purpose: Since the COVID-19 outbreak, the number of obese children and adolescents has increased rapidly. Obesity acts as a gateway to chronic adult diseases, so proper management during childhood and adolescence is essential. We aimed to identify the interannual changes in the prevalence of obesity, diabetes mellitus, dyslipidemia, and hypertension, and to investigate factors contributing to these changes before and during the COVID-19 pandemic.<p class="...

Background: Skeletal dysplasias (SD) are a heterogeneous group of heritable conditions with generalized bone and cartilage impairment caused by pathogenic variants in genes primarily affecting skeletogenesis and/or bone homeostasis. In this study, we conducted a next-generation sequencing (NGS) in patients with a suspected SD to reveal the underlying etiologies of skeletal dysplasia.Methods: Thirty-four pediatric patient...