hrp0092p3-179 | Multisystem Endocrine Disorders | ESPE2019

Clinical and Molecular Characteristics of Pediatric Patients with Multiple Endocrine Neoplasia (MEN)

Lee Yena , Oh Arum , Kim Gu-Hwan , Yoo Han-Wook , Choi Jin-Ho

Purpose: Multiple endocrine neoplasia (MEN) is a rare, autosomal dominantly inherited cancer syndrome caused by a mutation in MEN1 or RET gene. Identification of the genetic causes of the MEN is critical because genotype provides information on timing of prophylactic surgery in patients with MEN type 2 who have clinically silent tumors. Therefore, this study investigated clinical phenotype and molecular characteristics of children with MEN in...

hrp0089p2-p047 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

A Novel Variant of SLC34A1 Gene in an Infant with Idiopathic Infantile Hypercalcemia

Lee Gi-Min , Moon Jung-Eun , Kim Hyeon-A , Lee Su-Jeong , Ko Cheol-Woo

Bacground and objective: Idiopathic infantile hypercalcemia is one of rare diseases characterizing hypercalcemia in infancy. Renal phosphate absorption in proximal tubules plays a very important role in the phosphate and calcium homeostasis. SLC34A1 is known a key regulator of renal phosphate reabsorption. SLC34A1 gene mutation is one of very uncommon causes of idiopathic infantile hypercalcemia. We have experienced a case of idiopathic infantile hypercalcemia caused by a homo...

hrp0089p2-p070 | Diabetes & Insulin P2 | ESPE2018

Frequency and Etiologic Spectrum of Monogenic Diabetes in Pediatric Diabetes in a Single Academic Center

Choi Jin-Ho , Seo Go Hun , Oh Arum , Kim Gu-Hwan , Yoo Han-Wook

Purpose: Type 1 diabetes mellitus (DM) is the most common cause of diabetes in children and adolescents. Prevalence of monogenic DM is estimated for about 1%–5% of all patients with DM. Overlapping clinical features of various forms of diabetes make differential diagnosis challenging. This study was performed to investigate frequency and genetic etiologies of monogenic diabetes in a single academic center.Methods: This study included 466 consecutive...

hrp0089p3-p101 | Diabetes & Insulin P3 | ESPE2018

Changes in Glycemic Control after Switching from NPH & RI to Insulin Glargine and Lispro in Children with Type 1 Diabetes Mellitus (T1DM)

Kim Hyeon-A , Moon Jung-Eun , Lee Soo-Jeong , Lee Gi-Min , Ko Cheol-Woo

Background and objective: It has been reported that glycemic control gets better in children with T1DM on insulin glargine and lispro when compard to patients on NPH and RI. This study was conducted to see the changes of glycemic control after switching from insulin glargine and lispro (GLAR/LIS) to NPH and RI (NPH/RI) in Korean children with T1DM.Materials and methods: We studied 14 patients who were diagnosed with T1DM in Kyungpook National Children&#1...

hrp0089p1-p103 | Fat, Metabolism and Obesity P1 | ESPE2018

Associations of Non-High-Density Lipoprotein Cholesterol with Metabolic Syndrome and Its Components in Korean Children and Adolescents: the Korea National Health and Nutrition Examination Surveys 2008–2014

Shim Young Suk , Jeong Hwal Rim , Yang Seung , Kim Eun Young , Hwang Il Tae

Background: In this study, we aimed to investigate the relationship between single-gender Korean references for non-high-density-lipoprotein cholesterol (non-HDL-C) and metabolic syndrome (MetS) in childhood.Methods: A total of 5,742 Korean children aged 10–18 years who participated in a national survey were included. The subjects were classified into three groups based on single-gender non-HDL-C levels as follows: <120 mg/dl (desirable), &#8805...

hrp0089p2-p180 | Fat, Metabolism and Obesity P2 | ESPE2018

Relationships between Obesity Parameters and Urinary Concentrations of Phthalates and Phenols in Korean Girls

Kim Shin-Hye , Choi Man Ho , Hong Youngmin , Park Mi-Jung

Background: Humans are exposed to a variety of endocrine disruptors (EDs), including phthalates and phenol substitutes, in daily life. Previous studies have suggested the association between individual EDs and the risk of obesity, however, studies on the effects of multiple EDs have been extremely limited. We investigated the associations of urinary 12 phthalates, 3 polycyclic aromatic hydrocarbons, and 26 phenol substitutes with adiposity measures in Korean girls.<p class...

hrp0089p1-p150 | GH &amp; IGFs P1 | ESPE2018

Total Sum of Growth Hormone Values Obtained from Growth Hormone Stimulation Test May be Useful in the Diagnosis of Prepubertal Children with Idiopathic Growth Hormone Deficiency

Lee Su-Jeong , Moon Jung-Eun , Lee Gi-Min , Kim Hyeon-A , Ko Cheol-Woo

Background and objective: The peak GH value plays a crucial role in the diagnosis of idiopathic growth hormone deficiency (iGHD). However, the prediction of peak GH in iGHD diagnosis is known to be limited. The purpose of this study was to evaluate the clinical and diagnostic usefulness of the total sum of GH values obtained from the GH stimulation test.Materials and methods: We retrospectively reviewed 178 prepubertal children who were diagnosed with iG...

hrp0089p3-p218 | GH &amp; IGFs P3 | ESPE2018

Bone Age Maturation During the Three Years of GH Treatment in Patients with Idiopathic GH Deficiency and Idiopathic Short Stature: Analysis of Data from LG Growth Study

Shim Young Suk , Hwang Il Tae , Yang Seung , Kim Eun Young

Background: Although the beneficial effects of GH treatment on statural growth are well known, the impacts on skeletal maturation are not fully understood. In the current study, we aimed to investigate the progression of bone age (BA) in children with idiopathic GH deficiency (iGHD) and idiopathic short stature (ISS) based on a LG Growth Study (LGS). We also evaluated the progression rate of BA relative to chronologic age (CA) between iGHD and ISS and to find their associated ...

hrp0089p3-p296 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Analysis of Influencing Factors on Bone Maturation in Girls with Central Precocious Puberty (CPP)

Lee Gi-Min , Moon Jung-Eun , Lee Su-Jeong , Kim Hyeon-A , Ko Cheol-Woo

Background & objective: The occurrence of CPP seems to be increasing in our clinical practice thesedays. It is known that CPP causes socio-psychological disturbances relating to early pubertal changes and finally leads to a significant decrease in the final adult height because of premature closure of the growth plate. This study was conducted to see major factors affecting to the bone maturation, which is closely related to the final adult height in girls with CPP.<p ...

hrp0089p1-p246 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Clinical Phenotypes and Mutation Spectrum of Patients with Isolated Gonadotropin-Releasing Hormone Deficiency in a Single Academic Center

Yoo Han-Wook , Seo Go Hun , Oh Arum , Kim Gu-Hwan , Choi Jin-Ho

Background: Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) is caused by a deficiency in GnRH production, secretion or action. IGD is a highly heterogeneous disorder with wide phenotypic spectrum including Kallmann syndrome (KS) with anosmia and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). More than 30 different causative genes have been identified in several studies. However, there are no data on the prevalence, clinical characteristics, and mole...