hrp0094p1-192 | Thyroid B | ESPE2021

Analysis of hypothyroidism NGS test in Korean patients with congenital hypothyroidism in a single center

Jung So Yoon , Lee Jeongho ,

Introduction: Thyroid hormone is known as greatly influence on growth and development in fetuses and newborns. If the detection of the disease is delayed, hypothyroidism can cause irreversible damage, so early detection and treatment is very important. Hypothyroidism can be divided into permanent and temporary cases depending on the duration of treatment, but there is no predictor that can completely differentiate those two. However, as genes related to hypoth...

hrp0082lbp-d3-1017 | (1) | ESPE2014

Exploring the Pathogenesis of Hypothalamic Obesity: the Interaction of Hormonal, Neuronal and Psychological Factors

Steele Caroline , Powell Joanne , Kemp Graham , Halford Jason , Wilding John , Harrold Joanne , Das Kumar , Cuthbertson Daniel , Javadpour Mohsen , MacFarlane Ian , Stancak Andrej , Daousi Christina

Background: Acquired hypothalamic damage frequently causes obesity (BMI ≥30 kg/m2), often refractory to treatment. The interaction of hormonal, neuronal and psychological factors underlying hypothalamic obesity (HO) remains poorly understood.Methods: In fasted and fed states participants underwent blood sampling (GLP-1, insulin, PYY, ghrelin and glucose), fMRI scanning (viewing food/non-food photographs) and assessment of hunger and sati...

hrp0086p1-p906 | Thyroid P1 | ESPE2016

Thyroid Cancers in Korean Pediatric Populations with Thyroid Nodules

Park So Hyun , Jang Joon Ho , Park Su Jin , Ahn Moon Bae , Kim Sin Hee , Cho Won Kyoung , Cho Kyung Soon , Jung Min Ho , Suh Byung Kyu

Background: South Korea is one of the adequate or excessive iodine nutritional state countries and high-iodine intake is related to papillary thyroid cancer. The prevalence of thyroid cancer of South Korea has increased and the proportion of thyroid papillary cancer has increased as 97.9–98.3% in 2010. Childhood thyroid cancer is rare, and the prevalence of thyroid cancer in pediatric population was reported as 20–26% of thyroid nodules worldwide. However, there have...

hrp0097p1-307 | Growth and Syndromes | ESPE2023

A unique combination of Klinefelter syndrome and Three M Syndrome in a boy with short stature

Lee Mi-Seon , Lee Rosie , Lee Sang-Eun , Kwak Na-eun , Kwon Soon-Hak , Moon Jung-Eun

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-...

hrp0095t3 | Section | ESPE2022

Association Between Non-invasive Diagnostic Methods of Liver Fibrosis and Type 2 Diabetes in Pediatric Patients With Non-alcoholic Fatty Liver Disease

Yang Aram , Lee Ji-Eun , Kim Jinsup

Background and Purpose: The prevalence of non-alcoholic fatty liver disease (NAFLD) in children has been increasing associated with insulin resistance. However, there is a scarcity of related studies in children with NAFLD with type 2 diabetes mellitus (T2DM) compared to adults. We conducted this study to investigate the association between non-invasive diagnostic methods of liver fibrosis and T2DM in pediatric patients with NAFLD.<stron...

hrp0095p1-388 | Thyroid | ESPE2022

Next Generation Sequencing Analysis of Congenital Hypothyroidism Patients in A Single Tertiary Center

Park Jisun , Kim Sujin , Lee Jieun

Background: Congenital hypothyroidism is the most common neonatal metabolic disorder and detected at a rate of 1 in 3000 to 4000 live births. Compared to congenital hypothyroidism caused by defects in thyroid development leading to thyroid dysgenesis, thyroid dyshormonogenesis has tendency to be detected at older age and its clinical manifestations are individually different. Thus, to evaluate exact causes and predict clinical course for congenital thyroid dys...

hrp0089p1-p185 | Growth &amp; Syndromes P1 | ESPE2018

Growth Outcome in Girls with Idiopathic Central Precocious Puberty Treated with Gonadotropin-releasing Hormone Agonist

Sang Lee Hae , Hwang Jin Soon

Objective: Gonadotropin-releasing hormone agonists (GnRHa) are the treatment of choice for central precocious puberty (CPP) and have been widely used for decades. We determined the effect of GnRHa treatment on auxological outcomes of girls with idiopathic CPP.Methods: This study included 84 girls treated monthly with depot leuprolide acetate who had reached adult height. We compared their final adult height (FAH) with their initial predicted adult height...

hrp0089p1-p204 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Whole-exome Sequencing Identifies Novel Pathogenic Variants in Korean Families with Central Precocious Puberty

Lee Hae Sang , Hwang Jin Soon

Objective: Central precocious puberty (CPP) is characterized by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Early activation of hypothalamic-gonadal axis is influenced by both environmental and genetic factors. Especially, genetic factors have critical role of pubertal progression, but mutations associated with CPP have only been discovered in three genes: KISS1, KISS1R, and MKRN3. The aim of thi...

hrp0089p2-p412 | Thyroid P2 | ESPE2018

Thyroid Function in the Korean Obese Children and Adolescents: Korea National Health and Nutrition Examination Survey 2013 to 2015

An Youngmin , Eun Lee Ji , Ju Suh Young

Purpose: In recent years, there has been an increasing focus on thyroid function in pediatric obese patients, but no nationwide study evaluating the relationship between thyroid function and obesity has yet been conducted in Korea. We aimed to evaluate thyroid dysfunction in obese Korean children.Methods: We analyzed the association between obesity and thyroid hormone levels among 975 Korean boys and girls aged 10–18 years, who participated in the K...

hrp0086p2-p415 | Gonads &amp; DSD P2 | ESPE2016

Reproductive Function of Central Precocious Puberty in Girls: A Systematic Review

Kim Ji Hyun , Lee Jong Bin

Background: GnRH analogues are the treatment of choice for central precocious puberty. It has been proven beneficial effects on final adult height, but the reproductive function has many debate especially about PCOS. The criteria used for the diagnosis of PCOS can be more difficult to judge because it is not uniform between the studies.Method: The Medline, Cochrane, EMBASE, Web of Science, SCOPUS data bases were searched for studies published up to Janua...