ESPE Abstracts

Background: GNRH agonist (GnRHa) has been widely used for decades to treat in patients with central precocious puberty (CPP). There are severe studies concerning changes in body composition in CPP patients following GnRHa treatment, but the results are inconsistent.Objective and hypotheses: The aim of this study was to investigate the change of BMI in children treated with GnRHa for 2 years. Also, the present study was performed to assess whether BMI aff...

Background: Familial precocious puberty is defined by the existence of more than one affected member either in the proband generation or in the pedigree. Recently, several gene mutation cause familial CPP is elucidated, gain of function mutations in KISS1 and KISS1R, loss of function mutations in the MKRN3, the feature of familial precocious puberty is not fully understood.Objective: To investigate the clinical characteristics of familial precocious pube...

Background: Diabetic ketoacidosis is one of the precipitating factors that can evoke a thyroid storm. Thyroid storm may cause cerebral ischemia in moyamoya disease, which coexist in the patient with Graves’ disease.Case presentation: A 16-year-old girl complaining of dizziness and palpitation visited emergency room, and was diagnosed with diabetic ketoacidosis (DKA) combined by hyperthyroidism. Thyroid storm occurred in 6 h after the start of DKA ma...

Introduction: Skeletal muscle plays a crucial role in glucose disposal, and studies have shown a positive relationship between muscle mass and insulin sensitivity. However, an elevated lean mass has also been associated with metabolically adverse outcomes. This study aimed to evaluate the association between the risk of metabolic syndrome (MetS) and lean mass using dual-energy X-ray absorptiometry (DXA) in a nationally representative sample from the Korea Nati...

Purpose: The aim of this study is to investigate the influence of body mass index (BMI) on therapeutic effect in prepubertal children with idiopathic growth hormone deficiency (IGHD).Methods: We conducted a retrospective study by chart review in a single center. A total of 138 patients (male n=90, female n=48) with idiopathic growth hormone deficiency who were was treated growth hormone for at least 2 y...

Background/Purpose: Hyperprolactinemia is a rare endocrine disorder in childhood and there are limited etiological, clinical, and demographic data. The purpose of this study was to evaluate the clinical features and course of hyperprolactinemia in childhood and adolescents and to help diagnose and plan the management.Methods: In this single-center retrospective study included 21 patients with hyperprolactinemia from Ajou...

Objective: To investigate the clinical features and genetic characteristics of HRAS-associated Costello Syndrome.Method: Characteristics of clinical data and gene mutation of two cases Costello Syndrome in XX hospital were retrospectively analyzed. The related literature was searched by using search terms ‘HRAS’ or ‘Costello Syndrome’.Result: Both patients were presented with mental retardation, growth retardati...

Background: In humans, activating mutations in the PRKAR1A gene cause acrodysostosis1 (ACRDYS1). Two striking features of this rare developmental and skeletal disorder are renal resistance to PTH and chondrodysplasia resulting from the constitutive inhibition of PTHR1/Gsa/AC/cAMP/PKA signaling caused by the PRKAR1A mutations.Objective and hypotheses: Document the consequences of the germline expression of a PRKAR1A mutation causing a dominant repression ...

Background: Gonadotropin-releasing hormone agonist (GnRHa) treatment is widely used for central precocious puberty (CPP). Although some authors found increases in body mass index (BMI) in girls after GnRHa treatment, most studies reported no significant difference in BMI in girls during and after treatment. However, few studies have investigated changes in BMI in boys with CPP during and after GnRHa treatment. Hence, we aimed to evaluate the effects of GnRHa t...

Background: Turner syndrome, a condition that affects only girls and women, result when the X chromosome is missing or partially missing. Ornithine transcarbamylase (OTC) deficiency, the most common inherited urea cycle disorder, is transmitted as a partially dominant X-linked trait. The OTC gene maps to Xp21.1 and spans approximately 73 kb, containing 10 exons and 9 introns. OTC deficiency is diagnosed using a combination of clinical findings and biochemical testing, while co...