hrp0089p3-p380 | Thyroid P3 | ESPE2018

A Case of Permanent Congenital Hypothyroidism with Compound Heterozygous Mutations in the DUOX2 Gene

Hwang Jeongju , Jang Ja-Hyun , Yu Jeesuk

Introduction: Congenital hypothyroidism is defined as thyroid hormone deficiency present at birth. It is the most common congenital endocrine disorder. Neonatal screening test for hypothyroidism can allow its early detection. The course of disease can be permanent or transient. Some permanent congenital hypothyroidism has been linked to defects in proteins involved in the synthesis of thyroid hormones. One of the critical steps in the synthesis of thyroid hormone is the genera...

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...

hrp0095p2-66 | Diabetes and Insulin | ESPE2022

A Novel Mutation in the Hepatocyte Nuclear Factor 1-Alpha Detected in Case of a 13-Year-Old Female with Maturity Onset Diabetes of the Young (MODY)

Hyang Cho Ja , Woon Jung Hae , Shik Shim Kye

Maturity onset diabetes of the young (MODY) is a rare type of non-autoimmune diabetes mellitus which usually present in young adulthood. An estimated prevalence was 1.2% within the pediatric diabetic population. To date it has been proposed that pathogenic variants in at least 14 genes cause MODY. Among these genes, most cases result from mutations in HNF1A (MODY3), GCK (MODY2), HNF4A (MODY1) and HNF1B (MODY5). The patient is a 13-year-old, previously healthy, nonobese female ...

hrp0092p3-103 | Fat, Metabolism and Obesity | ESPE2019

Relationship Between 25-Hydroxyvitamin D with Adiposity Assessed by Body Mass Index, Serum Glucose and Lipids Levels in Korea: A Cross-Sectional Analysis

Shim Kye Shik , Cho Ja Hyang , Jung Hae Woon

Purpose: Vitamin D deficiency is thought to be influenced by cardiovascular function and glucose homeostasis, however the potential influence of vitamin D status on insulin resistance, is not well understood. The aim is investigate the correlations between 25-hydroxyvitamin D[25(OH)D] with adiposity assessed by body mass index(BMI), fasting glucose and lipid levels on schoolchildren.Methods: From April 2015 to July 2018,...

hrp0089lb-p3 | Late Breaking P1 | ESPE2018

Glycemic Impact of Long Term Use of Diazoxide Choline Controlled-Release Tablets in Patients with Prader-Willi Syndrome or with Very High Triglycerides

Kimonis Virginia , Gold JA , Charlton RW , Cowen Neil , Miller JL

DCCR is a once daily tablet formulation of the choline salt of diazoxide, a KATP channel agonist. DCCR is being developed for the treatment of hyperphagia in Prader-Willi syndrome (PWS), the most common genetic cause of life-threatening obesity. In a phase 2 study, DCCR treatment resulted in significant reductions of hyperphagia and aggressive behaviors. Diazoxide increases glucose by decreasing beta-cell insulin secretion in hyperinsulinemic conditions. However, ot...

hrp0097p1-516 | Growth and Syndromes | ESPE2023

Analysis of Pubertal Height Gain after Menarchal girls in Korea

Hyang Cho Ja , Woon Jung Hae , Shik Shim Kye

Purpose: Both timing of menarche and growth patterns have changed with time. Menarche is supposed to important role in pediatric linear growth. This study is aimed to investigate the relationship between the timing of menarche and pubertal growth, specifically to analyze when menarche occurs related to the pubertal growth spurt, and how the pubertal height gain is related to the timing of menarche.Method: From January 20...

hrp0098p3-193 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Height Gain after GnRH agonist Treatment for Precocious Puberty or Early Puberty

Hyang Cho Ja , Woon Jung Hae , Shik Shim Kye

Purpose: Gonadotropin-releasing hormone (GnRH) analog is the first-line treatment with precocious puberty happens before age 8 in girls. This study is aim ed to investigate the relationship between height gain and other factors, specifically to analyze validated tool for predicting adult height for precocious puberty or early puberty.Method: From January 2022 to June 2022, 32 girls with central precocious puberty who vis...

hrp0084p2-189 | Adrenals | ESPE2015

The Aetiological Spectrum of Congenital Adrenal Hyperplasia Based on Molecular Genetic Analyses

Choi Jin-Ho , Kim Ja Hye , Kang Eungu , Cho Ja Hyang , Kim Gu-Hwan , Yoo Han-Wook

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterized by a defect in cortisol biosynthesis. The most common form of CAH is the 21-hydroxylase deficiency (21-OHD), however, the incidence and the etiologic spectrum of other forms of CAH were not reported.Objective and hypotheses: This study describes the etiological distribution and clinical characteristics of CAH in a single academic centre.<p class...

hrp0084p3-765 | Diabetes | ESPE2015

A Case of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes) Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea Therapy

Kim Ja Hye , Cho Ja Hyang , Kang Eungu , Choi Jin-Ho , Kim Gu-Hwan , Yoo Han Wook

Background: Permanent neonatal diabetes mellitus is caused by mutations in the KATP channel subunits. DEND (Developmental delay, Epilepsy, and Neonatal Diabetes) syndrome is the most severe form of permanent neonatal diabetes. We experienced a patient with DEND syndrome, who was initially misdiagnosed as type 1 diabetes, who has been successfully switched from insulin injection to oral sulfonylurea therapy.Case presentation: A 50-day-old male ...