ESPE Abstracts

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

Background: Prader–Willi syndrome (PWS) is characterised by neonatal hypotonia, hypogonadism, progressive obesity, short stature, and mental retardation. This syndrome arises from a loss of expression of paternally derived genes on chromosome 15q11–13 region.Objective and hypotheses: The aim of this study was to investigate clinical characteristics and their genotypes in Korean patients with PWS.Method: The study included...

Background: Acquired QT prolongation can be caused by electrolyte abnormality, myocarditis, cerebrovascular disease, drug intoxication and hormonal disorders such as hypopituitarism, hypothyroidism, and adrenal insufficiency.Case presentation: We describe a 14-year-old boy with hypopituitarism after trans-sphenoidal surgery (TSS) due to suprasellar mass who manifested bradycardia and QT prolongation on electrocardiogram. This subject complained of blurre...

Objectives: Diabetes in children and young adults is increasing worldwide. However, the study of change in fasting glucose among general pediatric and young adult population was lacking. The aim of this study was to investigate the secular trend of fasting plasma glucose (FPG) levels in non-diabetic Korean youth and young adults and to evaluate the change in the proportion of impaired fasting glucose (IFG).Methods: Study subjects were Korean youth aged 1...

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...

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

Septo-optic dysplasia (SOD) is a rare congenital disorder characterized by a classic triad of optic nerve hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis. Up to date, a shared consensus is not available and the diagnosis relies mainly on clinical and neuroradiological findings. Even though few genes have been described as responsible for this syndrome, the precise causes of SOD remain unknown and a combination of...

Purpose: To investigate the outcomes of GH therapy combined with GnRH agonist for short girls who diagnosed with idiopathic CPP compared to whom treated with GnRH agonist alone.Methods: We performed retrospective reviews, among 1636 patients managed for CPP, collected data of the 166 girls with CPP treated with GnRHa for 36 months or more from January 2002 to December 2016. We divided groups of patients received GnRHa alone (Group A, n=135) or G...

Purpose: We investigated uric acid reference values and their association with cardiometabolic risk among children and adolescents using the Korea National Health and Nutrition Examination Survey (KNHANES).Methods: A total of 2,462 participants, aged 10-18 years, from the KNHANES 2016-2018 were included.Results: Serum uric acid (SUA) levels varied with sex and age. In male subjects...