hrp0094p2-454 | Thyroid | ESPE2021

Thyroid dysfunction in small for gestational age infants: a need for second screening?

Park So Yun , Kang Seokjin

Recently there has been studies which reported that SGA could be a risk factor for the development of delayed TSH elevation (dTSH) in preterm infant. To our knowledge, very few studies have addressed development of dTSH in SGA infants whose gestational age > 34. We included 76 SGA infants and 83 controls matched on sex and birth weight who showed normal results on the initial thyroid function screening test. On the following test for thyroid function, dTSH prevalence was ...

hrp0095p2-106 | Fat, Metabolism and Obesity | ESPE2022

Identification of a novel point mutation in APOB gene in a patient with hypobetalipoproteinemia

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

Familial hypobetalipoproteinemia (FHBL) is an autosomal codominantly inherited disorder of lipid metabolism characterized by <5th percentile plasma levels of LDL cholesterol or total apolipoprotein B (apoB). LDL cholesterol level is usually between 20-50 mg/dL. FHBL results from mutations in APOB, PCSK9 gene. Patients with homozygous APOB-related familial hypobetalipoproteinemia (APOB-FHBL) may have symptoms of fat malabsorption, steatorrhea, diarrhea, failure to thrive, de...

hrp0095p1-592 | Thyroid | ESPE2022

Development of delayed thyrotropin elevation in small-for-gestational-age infants: Is a second screening needed?

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

Purpose: Recent reports indicate that being small for gestational age could be a risk factor for delayed thyroid stimulating hormone (TSH) elevation (dTSH) in preterm infants. Very few studies have investigated the development of delayed thyroid stimulating hormone elevation in small-for-gestational-age late-preterm infants with a gestational age of 34–36 weeks.Methods: We retrospectively included 70 small-for-gest...

hrp0095p2-286 | Thyroid | ESPE2022

A Case of Sjogren's Syndrome with systemic involvement combined with exacerbated hyperthyroidism improved after glucocorticoid treatment

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

Background: Sjogren’s syndrome is a systemic autoimmune disease, and it is rare in pediatric population. Primary symptoms are dry mouth and dry eyes. However, it may present with systemic manifestations, involving lungs, liver, kidneys, vasculature, and blood. We report a case of Sjogren's syndrome with systemic involvement in a child with Graves' disease.Case report: A 9-year-old 11-month-old girl presen...

hrp0095p2-296 | Thyroid | ESPE2022

Factors related to permanent congenital hypothyroidism

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

Purpose: The purpose of this study was to retrospectively analyze the clinical, laboratory, imaging findings (sonography and Tc99m-pertechnetate scanning) in patient with congenital hypothyroidism (CH) who completed 3 years of LT4 medication.Method: 86 patients with congenital hypothyroidism were retrospectively reviewed. Medical history, laboratory, radiologic finding at the time of CH diagnosis were evaluated. Correlat...

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...

hrp0089p3-p415 | Growth &amp; Syndromes P3 | ESPE2018

Case Report: Novel ACAN Mutation in a SGA Short Stature without Accelerated Skeletal Maturation

Eun Park So , Sung Yeon Ahn

Heterozygous mutations in the ACAN, encoding for aggrecan or cartilage-specific proteoglycan protein, are associated with short stature with advanced skeletal maturation and skeletal dysplasia. A 2 years 7 month-old girl born small for gestational age presented with proportionate short stature (height 79.9 cm, SDS, −3.23) and bone age was delayed about 1year less than her chronologic age. She was born as small for gestational age.(38 weeks and 5 days of gestatio...

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...

hrp0084p3-1189 | Thyroid | ESPE2015

Simultaneous Occurrence of Thyroid Storm, Diabetic Ketoacidosis, and Multiple Cerebral Infarction in a 16-Year-Old Girl

Park So-Eun , Noh Byoungho , Cho Sang-Won , Ahn Sung Yeon

Background: Diabetic ketoacidosis is one of the precipitating factors that can evoke a thyroid storm. Thyroid storm may cause cerebral ischemia in moyamoya disease, which coexist in the patient with Graves’ disease.Case presentation: A 16-year-old girl complaining of dizziness and palpitation visited emergency room, and was diagnosed with diabetic ketoacidosis (DKA) combined by hyperthyroidism. Thyroid storm occurred in 6 h after the start of DKA ma...

hrp0092p1-40 | Fat, Metabolism and Obesity | ESPE2019

Late Pregnancy Exposure to Mono(2-ethyl-5-hydroxyhexyl) Phthalate Affects Weight Z-scores in Children up to 2 Years

Shah-Kulkarni Surabhi , Kim Hae Soon , Park Hyesook , Hong Yun-Chul , Kim Yangho , Ha Eun-Hee

Background: Endocrine-disruptor compounds (EDCs) like phthalates and bisphenol A (BPA) can have long term effect on children's physical growth. Studies have reported that effect of EDCs exposure on concurrent physical parameters like weight. But there is a knowledge gap with regards to long term effects of EDCs exposure on children's physical growth. Thus, in this study we evaluated the prenatal exposure of EDCs: BPA and phthalates and their influence ...