hrp0086p2-p710 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Endocrine Dysfunction in Children and Adolescents with CHARGE Syndrome

Choi Jin-Ho , Kang Eungu , Kim Yoon-Myung , Kim Gu-Hwan , Yoo Han-Wook

Background: CHARGE syndrome is a complex of congenital malformations affecting multiple organ systems caused by mutations in CHD7.Objective and hypotheses: This study was performed to evaluate endocrine dysfunctions including hypogonadotropic hypogonadism, growth hormone deficiency, or hypothyroidism in patients with CHARGE syndrome.Method: Eighteen patients (10 males and 8 females) with CHARGE syndrome were included. A di...

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...

hrp0084p2-528 | Puberty | ESPE2015

Correlation of Clinical Phenotype and Genotype of Prader-Willi Syndrome and the Deletion of Paternal MKRN3 Allele in PWS Patients with Central Precocious Puberty

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

Background: Prader-Willi syndrome (PWS) is caused by the deletion of the paternally-derived 15q11-13 region or the maternal uniparental disomy of chromosome 15 (mUPD(15)). Puberty is usually delayed and central precocious puberty (CPP) is very rare in PWS.Objective and hypotheses: This study was undertaken to correlate clinical features focusing on pubertal progression with genotype with or without MKRN3 deletion to understand the mechanism of C...

hrp0084p3-644 | Bone | ESPE2015

Clinical and Molecular Characterisation of Patients with Pseudohypoparathyroidism

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

Background: Pseudohypoparathyroidism (PHP) is a heterogeneous group of disorders characterized by hypocalcemia, hyperphosphataemia and Albright hereditary osteodystrophy (AHO), resulting from abnormalities of GNAS.Objective and hypotheses: This study investigated clinical features, outcomes, molecular characteristics of patients with PHP and pseudopseudohypoparathyroidism (PPHP).Method: Thirty one patients (15 males and 16...

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 ...

hrp0095p1-249 | Diabetes and Insulin | ESPE2022

Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID-19 outbreak

Rhie Young-Jun , Eun Oh Kyeong , Jin Kim Yu , Kang Eungu , Nam Hyo-Kyoung , Lee Kee-Hyoung

Introduction: Obesity has been on the rise in children, adolescents and young adults during the Corona virus disesase-2019 (COVID-19) outbreak. Obesity is known as the main risk factor for a number of diseases including type 2 diabetes mellitus (T2DM) and more than 90 percent of T2DM patients are overweight or obese. Along with the rise in obesity during the COVID-19 pandemic, we investigated the impact of COVD-19 pandemic on type 2 diabetes in children and ad...

hrp0086fc7.5 | Gonads &amp; DSD | ESPE2016

Targeted Exome Sequencing for Genetic Diagnosis of Patients with Disorders of Sex Development

Kim Ja Hye , Kang Eungu , Kim Gu-Hwan , Jang Ja-Hyun , Cho Eun-Hae , Lee Beom Hee , Yoo Han-Wook , Choi Jin-Ho

Patients with Disorders of sex development (DSD) can present with a large phenotypic spectrum and caused by a number of different genetic defects. Therefore, it is difficult to reach a specific diagnosis using traditional approaches including biochemical analysis and single gene sequencing in a number of patients with DSD. Recently, next-generation sequencing technologies have revolutionized the identification of causative genes with diseases with genetic heterogeneity using m...