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...

hrp0084p3-644 | 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 ...

hrp0084p3-1010 | Growth | ESPE2015

Disease-Specific Growth Charts of Marfan Syndrome in Korea

Kim Sujin , Cho Sungyoon , Sohn Youngbae , Park Sungwon , Jin Dong-Kyu , Huh Rimm , Kim Jinsup , Yang Aram

Background: Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. And these primary skeletal manifestations affect the growth pattern in MFS. Therefore, it is not appropriate to use normal growth charts to evaluate the growth status of MFS.Objective and hypotheses: We aimed to develop disease-specific growth charts for Korean MFS patients and to use these growth char...

hrp0095p1-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Six-year clinical outcome of enzyme replacement therapy for patients with perinatal lethal and infantile hypophosphatasia in Korea

Yoon Cho Sung , Kim Min-Sun , Noh Eu-Seon , young Bae Ga , won Park Sung , Jin Dong-Kyu , Kim Insung

Hypophosphatasia (HPP) is a genetic skeletal disease caused by loss-of-function mutations of ALPL encoding tissue-nonspecific alkaline phosphatase (TNSALP). The clinical presentation of HPP varies greatly, ranging from stillbirth without bone mineralization to findings in later life, such as delayed walking, short stature, skeletal deformities, bone pain, and pathologic fractures. The diagnosis is based on clinical examination, radiographic findings, biochemical parameters of ...

hrp0089p3-p398 | GH &amp; IGFs P3 | ESPE2018

Recombinant Growth Hormone Therapy in Prepubertal Children with Idiopathic Short Stature in Korea: A Phase III Randomized Trial

Im Minji , Kim J , Suh B-K , Ko CW , Lee K-H , Shin CH , Hwang JS , Kim HS , Chung WY , Kim CJ , Han H-S , Kwon NY , Cho SY , Yoo H-W , Jin D-K

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

hrp0092p1-233 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Growth Patterns Over Two Years After Birth According to the Birth Weight and Length Percentile in Children Born Preterm

Kim Seulki , Choi Yujung , Lee Seonhwa , Lee Yoonji , Lee Nayoung , Ahn Moonbae , Kim Shinhee , Cho Wonkyoung , Cho Kyoungsoon , Jung Minho , Suh Byungkyu

Purpose: This study aimed to analyze growth patterns during the first two years after birth according to the birth weight and length percentile in children born preterm, and to investigate factors affecting postnatal growth of these children.Methods: Eighty-two preterm neonates with a gestational age below 37 weeks who followed up until 24 months of corrected age (CA) were retrospectively reviewed. Length, weight and hea...

hrp0092p1-429 | Thyroid (2) | ESPE2019

Genetic Evaluation of Congenital Hypothyroidism with Gland-In-Situ Using Targeted Exome Sequencing

Hyun Shin Jung , Young Kim Hye , Mi Kim Young , Lee Heirim , Hye Bae Mi , Hee Park Kyung , Lee Sae-Mi , Jung Kwak Min

Objective: To analyze the genetic cause of congenital hypothyroidism by targeted exome sequencing in pediatric patients with congenital hypothyroidism with thyroid gland in situ.Patient and Method: The study population comprised 20 patients with thyroid gland, who were diagnosed with congenital hypothyroidism at Pediatric Endocrinologic Clinic of Pusan National University Hospital. Targeted exome sequencing was ...

hrp0092p2-85 | Diabetes and Insulin | ESPE2019

Clinical Characteristics and Treatment Outcomes in Patients with Autoantibody-negative Ketosis-prone Diabetes

Kim Shin-Hee , Ahn Moon-Bae , Kim Seulki , Choi Yujung , Lee Seonhwa , Cho Won Kyoung , Cho Kyoung Soon , Jung Min Ho , Kyu Suh Byung

Objective: Ketosis-prone diabetes (KPD), characterized by presentation with diabetic ketoacidosis (DKA) in patients lacking the typical features of autoimmune type 1 diabetes, is a heterogeneous syndrome. The objective of this study is to ascertain the presence of A-β+ (autoantibody-negative, β-cell functional reserve) KPD in Korean children and adolescents and to study their characteristics in this group. Method: Diabetes ...

hrp0092p3-117 | Fat, Metabolism and Obesity | ESPE2019

Comparison of Different Criteria for the Definition of Insulin Resistance and Its Relation with Metabolic Risk in Overweight and Obese Adolescents

Lee Seonhwa , Choi Yujung , Kim Seulki , Lee Nayeong , Lee Yoonji , Ahn Moonbae , Kim Shinhee , Cho Wonkyoung , Cho Kyoungsoon , Jung Minho , Suh Byungkyu

This study aimed to compare cut-off points corrected for age and gender (CCOP) with fixed cut-off points (FCOP) for fasting plasma insulin and homeostasis model assessment-insulin resistance (HOMA-IR) for the diagnosis of IR in Korean obese children and adolescents and to identify IR applying CCOP and FCOP using as outcome the presence of dyslipidemia and Metabolic syndrome (MetS).We performed a cross sectional analysis of data from 195 adolescents aged ...