ESPE Abstracts

Purpose: The association between appendicular skeletal muscle mass (ASM) and cardiometabolic risk has been emphasized. We estimated reference values of the percentage of ASM (PASM) and investigated its association with metabolic syndrome (MS) in Korean adolescents.Methods: Data from Korea National Health and Nutrition Examination Survey performed between 2009 and 2011 was used. Tables and graphs of reference PASM were ge...

Introduction: Estrogen treatment can be used for pediatric patients with Marfan syndrome who wish to control the rate of excessive height growth. However, the appropriate timing of treatment initiation is controversial and studies were limited. In this study, the authors aimed to find out when the initiation of estradiol therapy is most appropriate for controlling height growth rate in patients with Marfan syndrome.Methods:</stro...

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...

Introduction: Adrenarche refers to the increase in adrenal androgen synthesis. However, process of adrenal androgen production in early childhood remains to be elucidated. The aim of this study was to evaluate changes in adrenal androgen levels and steroidogenic enzyme activities associated with adrenarche using a prospective cohort.Methods: A total of 229 children (124 boys, 52.4%), who had participated in the Envir...

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 ...

Purpose: We try to analyze the prediction capacity of variable factors to diagnose adrenal insufficiency.Methods: We analyzed clinical and laboratory data of 22 children (Male =13) who have been checked regular dose ACTH stimulation test for suspected symptoms after HSCT (Lymphoid leukemia=5, Myeloid leukemia=9, Non-malignant=8) at the Catholic HSCT center from Feb 2013 to Feb 2017 at Seoul St. Mary’s Hospital. A normal response of ACTH stimulation ...

Background: Elevated serum uric acid (UA) levels are associated with metabolic syndrome (MS), cardiometabolic risk factors (CMRFs) and non-alcoholic fatty liver disease (NAFLD) in adults. However, little is known about usefulness of UA to predict MS in adolescents. As the prevalence of obesity among pediatric population has been increasing, it is important to know the factors associated with the CMRFs to prevent future development of diabetes and cardiovascular disease.<p ...

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...

Background: Hematopoietic stem cell transplantation (HSCT) has improved the prognosis of children with malignant hematologic disease. However, it has had significant adverse effects on the endocrine system, including bone health. Limited studies are available to assess osteoporosis in survivors of adolescents after HSCT.Objective and hypotheses: We investigate the bone mineral density (BMD) and endocrinopathy/treatment factors associated with low BMD in ...

Background: Central precocious puberty (CPP) may result from organic lesions, but it is most frequently of idiopathic origin in girls.Objective and hypotheses: The objective of the study was to identify central nervous system abnormalities in girls with CPP.Method: This retrospective study was performed in 3-tertiary care hospitals between 2005 and 2015. During this period, 200 girls with CPP performed brain magnetic resonance imag...