hrp0084p3-1010 | Growth | ESPE2015

Disease-Specific Growth Charts of Marfan Syndrome in Korea

Kim Sujin , Cho Sungyoon , Sohn Youngbae , Park Sungwon , Jin Dong-Kyu , Huh Rimm , Kim Jinsup , Yang Aram

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...

hrp0097p1-215 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Clinical and genetic characteristics of primary hypoparathyroidism in children:two-center experience in China

Shen Yingxiao , Yang Wei , He Qin , Xu Xiaoqin , Huang Ke , Dong Guanping , Fu Junfen , Wei Haiyan , Wu Wei

Object: To analyze the clinical and genetic characteristics of primary hypoparathyroidism in children from two children's hospitals in China.Methods: This study includes 47 patients (26 males, 21 females), who were diagnosed with primary hypoparathyroidism in Children's Hospital of Zhengzhou University and Children's Hospital of Zhejiang University School of Medicine from January 2015 to November 2022. We ...

hrp0095p2-65 | Diabetes and Insulin | ESPE2022

Effect of carbohydrate counting education in Korean patients with type 1 diabetes.

In Lee Hae , Kwon Ahreum , Suh Junghwan , Lee Myeongseob , Song Kyungchul , Wook Chae Hyun , Kim Ho-Seong

Background: The achievement and maintenance of normoglycemia is one of the most important goals to prevent both short and long-term complications in type 1 diabetes mellitus (T1DM). As carbohydrate acts as the primary macronutrient affecting postprandial glycemic response, carbohydrate counting is crucial in adjusting prandial insulin doses to preserve postprandial blood glucose within normal limits. The purpose of this study is to examine the effect for carbo...

hrp0095p2-183 | Growth and Syndromes | ESPE2022

First Korean case of a novel ZC4H2 mutation in Wieacker-Wolff syndrome with recurrent hypoglycemia

Lee Gahyun , Kim Heung , Yun Park So , Lee Donghyun , Kang Seokjin

Wieacker-Wolff syndrome, first described in 1985, is a rare congenital syndrome caused by ZC4H2 mutation reported in 9 family and 6 sporadic cases to date. It is an X-linked recessive disorder characterized by congenital joint contractures, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. A nine-year-old boy with brain atrophy, mental retardation, scoliosis, developmental dysplasia of the hip, convulsions, and exotropia presented to our...

hrp0092p3-305 | Late Breaking Abstracts | ESPE2019

Combined Surgical and Medical Treatment in an Adolescent with Severe Gynecomastia Due to Excessive Estradiol Secretion: A Case Report

Lee Miseon , Moon JungEun , Woo Ko Cheol , Seok Lee Joon , Dug Yang Jung

Background: Gynecomastia develops due to the reversed estradiol-to-Testosterone ratio in adolescence, and symptoms typically improve within two years. The causes vary widely, including estrogen excess and tumors, and surgical treatment is usually given in late adolescence because postoperative symptoms may recur in adolescents. There are no guiding recommendations for gynecomastia to date besides the suggestion to consider rapidly growing gynecomastia and brea...

hrp0089p2-p165 | Fat, Metabolism and Obesity P2 | ESPE2018

The Protective Effect of Exclusive Breastfeeding for overweight/Obesity in Children with High Birth Weight

Kim Hae Soon , Lee Jung Won , Lee Myeongjee , Ha Eun-Hee , Kim Young Ju

Background and objectives: A positive association between birth weight and BMI among children and adolescents has been shown in many populations. Several studies have indicated that breastfed children have lower risk of childhood obesity. Therefore, the aim of this study was to investigate the BMI trajectory according to birth weight status and protective effect of breastfeeding on overweight/obesity prevalence in children 6 years of age.Methods: A retro...

hrp0086p1-p127 | Bone & Mineral Metabolism P1 | ESPE2016

Transient Pseudohypoaldosteronism and Failiure to Thrive in A 5-Month-Old Infant

Soon Kim Hae , Lee Yoonsuk , Won Lee Jung , Jin Cho Su

Hyponatremia with hyperkalemia in infancy may be seen in many endocrinologic and metabolic disorder such as congenital adrenal hyperplasia, congenital adrenal hypoplasia, and other forms of hypoadrenalism in infancy. Here, we report a infants who presented with hyponatremia with hyperkalemia finally diagnosed as pseudohypoaldosteronism (PHA) due to urinary tract infection (UTI) with reflux nephropahy. A 5-month-old female initially was transferred for poor weight gain for 2 mo...

hrp0082p3-d3-696 | Bone (2) | ESPE2014

A Korean Boy with Pseudohypoparathyrodism Type Ia Presenting with Congenital Megacolon and Spinal Stenosis: Identification of a Novel GNAS Gene Mutation

Lee J E , Lee S H , Cho S Y , Ki C S , Jin D K

Pseudohypoparathyroidism (PHP) is a disease of rare frequency. There are five subtypes with each having different phenotypes and blood laboratory test results, which depend on gene mutation and hereditary styles. Among them, the most common type is PHP Ia which inherits maternal gene mutation and expresses AlbrightÂ’s hereditary osteodystrophy (AHO) appearance, hypocalcemia, hyperphosphatemia and serum parathyroid hormone elevation. Another type, pseudo-pseudohypoparathyro...

hrp0092p1-233 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Growth Patterns Over Two Years After Birth According to the Birth Weight and Length Percentile in Children Born Preterm

Kim Seulki , Choi Yujung , Lee Seonhwa , Lee Yoonji , Lee Nayoung , Ahn Moonbae , Kim Shinhee , Cho Wonkyoung , Cho Kyoungsoon , Jung Minho , Suh Byungkyu

Purpose: This study aimed to analyze growth patterns during the first two years after birth according to the birth weight and length percentile in children born preterm, and to investigate factors affecting postnatal growth of these children.Methods: Eighty-two preterm neonates with a gestational age below 37 weeks who followed up until 24 months of corrected age (CA) were retrospectively reviewed. Length, weight and hea...

hrp0092p3-117 | Fat, Metabolism and Obesity | ESPE2019

Comparison of Different Criteria for the Definition of Insulin Resistance and Its Relation with Metabolic Risk in Overweight and Obese Adolescents

Lee Seonhwa , Choi Yujung , Kim Seulki , Lee Nayeong , Lee Yoonji , Ahn Moonbae , Kim Shinhee , Cho Wonkyoung , Cho Kyoungsoon , Jung Minho , Suh Byungkyu

This study aimed to compare cut-off points corrected for age and gender (CCOP) with fixed cut-off points (FCOP) for fasting plasma insulin and homeostasis model assessment-insulin resistance (HOMA-IR) for the diagnosis of IR in Korean obese children and adolescents and to identify IR applying CCOP and FCOP using as outcome the presence of dyslipidemia and Metabolic syndrome (MetS).We performed a cross sectional analysis of data from 195 adolescents aged ...