ESPE Abstracts

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. We aim ed to delineate endocrinopathy in PWS patients during long-term follow up.Methods: A total of 71 patients with PWS were enrolled retrospectively from July 2009 to March 2020. Diagnoses were based on the clinical and genetic testing.<p...

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...