ESPE Abstracts

Introduction: 5-α-Reductase type 2 deficiency (5αRD2) is 46,XY disorder of sex development that requires androgen treatment for normal male external genitalia development. Despite concerns regarding precocious puberty and stunted growth associated with androgen treatment, limited research has been conducted on its effects on individuals with 5αRD2. The present study aims to evaluate the impact of androgen treatment on bone age (BA) and height...

Introduction: Reduced muscle strength is associated with increased cardiometabolic morbidity and mortality. Handgrip strength (HGS) is an indicator of muscle strength and has been correlated with total muscle strength in children and adolescents. We aimed to evaluate the association between HGS and parameters of the metabolic syndrome and insulin resistance in children and adolescents.Methods: A total of 2,242 children a...

Background: Glycogen storage disease (GSD) is an inherited metabolic defect of metabolic defect of glycogenolysis and gluconeogenesis. Patients with GSDs are associated with endocrine abnormalities such as short stature, delayed puberty, fasting hypoglycemia, and dyslipidemia. In addition, patients with GSD 1b are also at risk of autoimmune hypothyroidism. Therefore, this study was performed to investigate endocrine complications in patients with GSD.<p cl...

Background: Interleukin-6 (IL-6) is a proinflammatory cytokine associated with obesity, insulin resistance, hypertension, and atherosclerosis in adulthood. Few studies have been conducted in healthy young children. We aimed to investigate whether IL-6 levels are associated with cardiometabolic risk factors in healthy 4-year-old children.Methods: From a prospective cohort study named Environment and Development of Children (EDC) cohort, a total of 421 sin...

Background: Childhood obesity is a major health concern. Exposure to environmental chemicals may play a role in childhood obesity.Objective and hypotheses: We investigated whether urinary phthalate metabolite concentrations was associated with overweight or obese status in 4-year-old children.Method: Forty-hundred thirteen children born as term, appropriate-for-gestational-age infants (226 males) were included in this study. BMI wa...

Neonatal diabetes mellitus (NDM) is a hyperglycemic status usually diagnosed before first 6 months of life, which is caused by monogenic mutations. INS gene mutation is the second most common cause of permanent NDM, causing misfolding of proinsulin and accumulation in the endoplasmic reticulum, leading to apoptosis of the pancreatic beta cells. We report a case of NDM in a 2-month-old girl with a novel heterozygous mutation of the INS gene, and functional studies to confirm th...

This study aimed to evaluate the long-term safety and effectiveness of recombinant human growth hormone (rhGH; Eutropin®, Eutropin®Pen, Eutropin®AQ, and Eutropin®Plus, LG Chem, Ltd.) treatment in Korean pediatric patients. This observational study has been conducted since 2011, and the data were collected up to August 2021 for interim analysis. The incidence rates of all adverse events (AEs) were assessed for safety a...

Purpose: Bisphenol A (BPA) is endocrine disrupting chemicals used to manufacture plastics such as epoxy resins and polycarbonate polymers. BPA has weak estrogenic and strong anti-androgenic effects and has also been linked to disruption of thyroid function in previous studies. This study aims to investigate the relationship between urinary bisphenol A exposure in early childhood and thyroid hormone of pubertal children in Korea.M...

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...

Objective: We evaluated frequency and risk factors of delayed TSH elevation (dTSH) and investigated follow-up outcomes in the dTSH group with venous TSH (v-TSH) levels of 6–20 mU/L according to whether late preterm infants born at gestational age (GA) 35–36 weeks had risk factors.Methods: The medical records of 810 neonates (414 boys) born at Seoul National University Hospital who had a normal neonatal screenin...