hrp0092p2-165 | GH and IGFs | ESPE2019

The Clinical Significance of Post-Sleep Growth Hormone Levels in the Diagnosis of Growth Hormone Deficiency

Yoo Chaeri , Kyung Mo , Yoo Eun-Gyong

Background: The growth hormone (GH) stimulation test, which requires multiple blood sampling, should be performed to confirm the diagnosis of growth hormone deficiency because of the pulsatile secretion of GH. In addition to hypoglycemia, L-dopa and arginine, deep sleep is also known as an important stimulator of GH secretion.Objectives: The aim of study was to assess the accuracy and predictive value of the test of post...

hrp0092p2-78 | Diabetes and Insulin | ESPE2019

A Case of an Infant with Congenital Hyperinsulinism Complicated by Diabetic Ketoacidosis during Treatment

Yoo Chaeri , Rhie Seonkyeong , Yoo Eun-Gyong , Jung Mo Kyung

Background: Congenital hyperinsulinism (CHI) is a disorder causing persistent hypoglycemia due to oversecretion of insulin. Diazoxide, a KATP channel opener in pancreatic beta cells is the treatment of choice, however, the glucose level should be monitored carefully. We report here a case of an infant girl with CHI who was complicated by diabetic ketoacidosis (DKA) during acute febrile illness.Case Report: A 1...

hrp0089p1-p178 | Growth & Syndromes P1 | ESPE2018

Identification of Three Novel Mutations in 10 Pediatric Patients with Unexplained Syndromic Short Stature Identified by Targeted Exome Sequencing in Korea

Kun Cheon Chong , Kim Yoo-Mi

Objectives: Owing to the tremendous advances in next-generation sequencing technology, numerous monogenic causes of growth disorders have been identified. Identifying novel rare genetic causes of short stature (SS) is quite challenging. In 2017, we reported a mutation analysis of 15 patients with undiagnosed syndromic SS or overgrowth. In this study, 6 mutations in another 10 Korean patients with unexplained syndromic SS are reported. The aim of this study is ...

hrp0084p3-849 | Fat | ESPE2015

The Triglyceride-to-High Density Lipoprotein Cholesterol Ratio in Overweight Korean Children

Kang Yu Sun , Yoo Eun-Gyong

Background: Dyslipidaemia is related with the initiation and progression of atherosclerosis in children, and the total cholesterol (TC) and non-high density lipoprotein cholesterol (non-HDL-C) are commonly used screening tools for identifying children with dyslipidaemia. The triglyceride-to-high density lipoprotein cholesterol (TG/HDL-C) ratio has recently been reported as a marker of insulin resistance in obese children and adolescents.Objective and hyp...

hrp0082p1-d2-219 | Reproduction (1) | ESPE2014

Mutation Analysis of the KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3 Genes in Girls with Central Precocious Puberty

Kim Yoo-Mi , Hye Kim Ja , Hyang Cho Ja , Choi Jin-Ho , Yoo Han-Wook

Background: Central precocious puberty (CPP) is mostly idiopathic, however, familial cases of CPP and evidence of genetic factors on pubertal timing by genome-wide association studies suggested genetic causes of CPP.Objective and hypotheses: Molecular defects in six genes (KISS1, KISS1R, LIN28A, LIN28B, TAC3, and TACR3) have been known to cause early activation of the hypothalamic-pituitary–gonad...

hrp0082p2-d1-520 | Pituitary | ESPE2014

Hypothalamic Obesity in Children with Craniopharyngioma: Prevalence and Risk Factors of Obesity and Longitudinal Trends of BMI

Cho Ja Hyang , Kim Ja Hye , Kim Yoo-Mi , Choi Jin-Ho , Yoo Han-Wook

Background: Craniopharyngioma is the most common parasellar tumor in childhood arising from remnants of Rathke’s pouch. As the hypothalamus plays a vital role in regulation of body weight by balancing energy intake and expenditure, hypothalamic damage by structural lesions is one of the most common causes of hypothalamic obesity. This study investigated prevalence, risk factors for the development of hypothalamic obesity, and consequent morbidities in children following t...

hrp0092p1-83 | GH and IGFs | ESPE2019

Identification of Novel Recessive IGFALS Mutations and INSR Variant in an Obese Korean Boy

Kim Yoo-Mi , Lim Han Hyuk , Kim Seon Young

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

hrp0086p1-p819 | Syndromes: Mechanisms and Management P1 | ESPE2016

Clinical and Molecular Characterization of a Newly Recognized Overgrowth Syndrome: Interstitial 7q22.1-7q22.3 Microdeletion

Cheon Chong Kun , Kim Yoo-Mi , Kim Su Young

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...

hrp0084p1-18 | Bone | ESPE2015

Response to Vitamin D Replacement is Determined by Body Surface Area in Children with Vitamin D Deficiency

Chung In Hyuk , Kang Yu Sun , Yoo Eun-Gyong

Background: The serum 25-hydroxyvitamin D (25OHD) levels are known to be lower in obese children, probably due to sequestration of vitamin D in the adipose tissue. However, there is no consensus on the dose adjustment for vitamin D supplementation in obese children with vitamin D deficiency (VDD).Aims: To compare the response to vitamin D replacement in normal weight vs overweight children with VDD, and to investigate the determinant for increment of 25O...

hrp0084p3-851 | Fat | ESPE2015

Genotype and Clinical Characteristics in Korean Patients with Prader-Willi Syndrome: A Single Centre Study

Kim Yoo-Mi , Cheon Chong Kun , Kim Su Young

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...