ESPE Abstracts

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 ...

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...

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...

Background: Fibrochondrogenesis 1 (FBCG1) is known as an autosomal recessive syndrome, which is related to short-limbed skeletal dysplasia. The disease is clinically characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen. Mutations in the gene encoding the α1 chain of type XI collagen (COL11A1) are s...

Objectives: Prader–Willi syndrome (PWS) is the most common genetic obesity disorder and results from lack of gene expression on paternally inherited chromosome 15q11.2-q13. However, the factors regulating obesity in PWS are poorly understood. We aimed to characterize genetic alterations in PWS using whole genome microarrays to analyze gene expression, and to understand the molecular mechanisms of obesity in PWS patients.Met...

Background: Aluetta® Smartdot™ (Merck Healthcare KGaA, Darmstadt, Germany) is a novel injection device for administering recombinant-human growth hormone (r-hGH), integrated with a smart knob attachment for data transmission that combines ease of use with advanced capabilities. Integration with Growzen™ digital ecosystem empowers healthcare professionals (HCPs) with remote monitoring of patient adherence, thereby promoting optimal cl...