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 ...

hrp0092p3-88 | Diabetes and Insulin | ESPE2019

A Case of Type 2 Diabetic Adolescent With Sleep Apnea who was Successfully Stopped Metformin After Adenotonsillectomy

Hong Sung-Won , Ahn Young-Min , Seo Ji-Young

Sleep deficit is the well known risk factor for obesity in children and adult. Adenotonsillar hypertrophy is the main cause of obstructive sleep apnea(OSA) in childhood. Adult type (type II ) OSA is increasing in obese children. Eleven year old boy visited our clinic with chief complain of polyuria, polydipsia onset two weeks ago. His grandmother and father are type 2 diabetes mellitus. Adenotonsillectomy was recommended for tonsillar hyperthrophy (Grade 3) and had snoring for...

hrp0092p3-174 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Population Prevalence of Down's Syndrome and Cardiac Complications in South Korea: Based on National Health Insurance Service (NHIS)

Lee Na yeong , Cho Won Kyoung , Suh Byun-Kyu

Backgrounds: There is a no reliable population-based prevalence data of Down's syndrome (DS) in South Korea. In the present study, we try to estimate the incidence and prevalence of DS and cardiac complications in South Korea using data of National Health Insurance Service (NHIS) data and Rare Diseases Registry.Methods: We collected the data on DS patients who registered in the Rare Diseases Registry (RDR) between 20...

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...

hrp0089p3-p415 | Growth & 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...

hrp0086p1-p741 | Pituitary and Neuroendocrinology P1 | ESPE2016

Serum Anti-Mullerian Hormone Levels in Precocious Puberty Girls According to the Timing of GnRH Agonist Treatment

Nam Hyo-Kyoung , Kim Hye Ryun , Rhie Young Jun , Lee Kee-Hyoung

Background: Few studies have investigated the long-term effects of gonadotropin releasing hormone (GnRH) agonist treatment on reproductive function.Objective and hypotheses: We assessed ovarian function by analyzing serum anti-mullerian hormone (AMH) levels in central precocious puberty (CPP) girls according to GnRH agonist-treatment timing.Method: Our study included 505 CPP girls subdivided into five groups based on the timing of ...

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...

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...