ESPE Abstracts

Background: Kallmann syndrome is the most common form of hypogonadotropic hypogonadism and is associated with genes such as KAL1, KAL2, CHD7, NELF, PROK2, and PROKR2. Genetic factors in hypopituitarism are involved with the gene mutation of PROP1, POU1F1, HESX1, LHX3, LHX4, and PTX2. We found a novel mutation of the AVP gene in a Kallmann syndrome patient with hypopituitarism.Case presentation: The pa...

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 ...

Background: The current standard method to diagnose central precocious puberty(CPP) is gonadotropin releasing hormone stimulation test (GnRHST). But, it is inconvenient for children because of time-consuming and multiple samples. This study aimed to present utility of morning basal luteinizing hormone (LH) for the screening of central precocious puberty with emphasis on the influence of diurnal variation.Methods: This study is a retrospective review of 1...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Introduction: Genes on the X chromosome (BMP15, FMR1) and autosomal chromosomes (FOXL2, RSPO1, WNT4) are known to influence ovarian development. 46,XX gonadal dysgenesis is a rare disease caused by chromosomal abnormalities, genetic mutations, and postnatal ovarian damage, leading to premature ovarian failure.Case Report: A 16-year-old female presented with primary amenorrhea and poor breast development. She was born at ...

Background: MODY includes a very heterogenous group of monogenic diabetes mellitus characterized by beta-islet cell dysfuction. We previously reported 3 new gene mutations of PTPRD, SYT9 and WFS1 in Korean MODY children (Horm Res Paediatr,2015). We investigated whether the PTPRD, SYT9 and WFS1 mutation overexpression vectors affect insulin synthesis and secretion in human pancreatic beta cells.Materials & Methods: We...

Background: Recently, the puberty is becoming to start earlier. This early beginning of the puberty is multifactorially related to genes, hormones and environmental factors. It has been already known in many animal experiments that endocrine disrupting chemicals (ECDs) are deeply envolved in regulation of endocrine systems. However, clinical studies in humans are limited. Recently, the toy of 'Slim' which thought to contain ECDs such as phthalates is v...

Objectives: Short stature is the main characteristics for Turner syndrome (TS) patients, and growth hormone (GH) therapy has been used as an essential treatment for developing final adult height. However, there are only a few studies on the difference responsiveness to GH therapy according to the karyotype of Turner syndrome in Korea. The aim of this study was to analyze the effect of different types of TS karyotype abnormality on the response of GH therapy.</...

Background: Retinol binding protein 4 (RBP4) and adiponectin are known to be related with insulin resistance and type 2 diabetes.Objective and hypotheses: This study was aimed at investigating (RBP4) and adiponectin secretion in obese Korean children and adolescents with newly diagnosed type 2 diabetes (T2DM).Method: Nine obese children and adolescents with newly diagnosed T2DM (DM group) and ten obese age-matched subjects without ...

Introduction: Serum glycated albumin (GA) is a glycemic marker reflecting the average serum glucose values for the previous 2 weeks. The purpose of this study was to evaluate the usefulness of serum GA as a glycemic index complementing glycosylated hemoglobin (HbA1c) in children and adolescents.Methods: Fifty-four children and adolescents with diabetes mellitus (DM) and 98 children and adolescents without DM (Non-DM) wer...