hrp0084p3-1165 | Puberty | ESPE2015

One Year Follow-Up of Asymptomatic Precocious Puberty; Clinical and Laboratory Characteristics

Jang Kyung-Mi , Cho Eun-Mi , Ko Cheol-Woo

Background: Children with bone-age advancement without any pubertal sign (asymptomatic precocious puberty, asmyptomatic PP) were reported (CW Ko,et al, at the Annual Meeting of ESPE, 2012 and 2013).Objective and hypotheses: In our follow-up study, some more children with asmyptomatic PP were enrolled additionally. We analysed their clinical and laboratory characteristics at the time of diagnosis, and they were followed-up prospectively t...

hrp0089p1-p178 | Growth & Syndromes P1 | ESPE2018

Identification of Three Novel Mutations in 10 Pediatric Patients with Unexplained Syndromic Short Stature Identified by Targeted Exome Sequencing in Korea

Kun Cheon Chong , Kim Yoo-Mi

Objectives: Owing to the tremendous advances in next-generation sequencing technology, numerous monogenic causes of growth disorders have been identified. Identifying novel rare genetic causes of short stature (SS) is quite challenging. In 2017, we reported a mutation analysis of 15 patients with undiagnosed syndromic SS or overgrowth. In this study, 6 mutations in another 10 Korean patients with unexplained syndromic SS are reported. The aim of this study is ...

hrp0086p1-p258 | Diabetes P1 | ESPE2016

Possible Monogenic Diabetes Mellitus Including Mody is Highly Prevalent in Korean Children with Diabetes Mellitus

Moon Jung-Eun , Cho Eun-Mi , Jang Kyung-Mi , Ko Cheol-Woo

Background: As the human genome is further explored, multiple genetic anomalies at different loci are being found that confer varying degrees of predisposition to diabetes. MODY is the most common form of monogenic diabetes, accounting 2–5 percent of diabetes. Recently, we have found and reported three noble gene variants relating to MODY in Korean children (Shim et al, Horm Res Pediatr, 2015).Objective and hypotheses: This study was done to see the...

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 ...

hrp0092p1-83 | GH and IGFs | ESPE2019

Identification of Novel Recessive IGFALS Mutations and INSR Variant in an Obese Korean Boy

Kim Yoo-Mi , Lim Han Hyuk , Kim Seon Young

IGFALSgene is located in chromosome 16p13.3 encoding acid labile subunit which binds insulin-like growth factors (IGFs) to increase their half-life and vascular localization. The biallelic defect of this gene leads to acid-labile subunit deficiency characterized by postnatal growth retardation, insulin resistance, delayed puberty, and no growth hormone deficiency. A 5-year-old-boy was referred to as low IGF-1 and cortisol level. He presented with obesity and growth re...

hrp0092p1-203 | Fat, Metabolism and Obesity (1) | ESPE2019

Serum Nonylphenol and Obesity in Children and Adolescents

Seo Moon Young , Kim Shin-Hye , Park Mi Jung

Background: Experimental models suggest that exposure to low dose nonylphenol could induce adiposity and promote adipocyte differentiation in mice. However, studies on the effect of nonylphenol exposure to human obesity have not been adequately studied.Objective: We investigated the associations of serum nonylphenol concentration with adiposity measures in Korean children and adolescents.Me...

hrp0092p1-368 | GH and IGFs (2) | ESPE2019

Renal Complication of Hematuria and Proteinuria after Recombinant Human Growth Hormone Therapy in Children

Kim Chan Jong , Park Na Ri , Yang Eun Mi

Introduction: Treatment with recombinant human growth hormone (rhGH) is useful for growth failure in short stature children. But there are some reports of renal disease or complication occurring during rhGH treatment. GH and insulin-like growth factor-1 (IGF-1), together with other growth factors and cytokines, have important roles in adaptive morphological and functional changes in the kidney. This study was aimed to reveal the renal complication of hematuria...

hrp0086p2-p785 | Pituitary and Neuroendocrinology P2 | ESPE2016

Hyperleptinemia in Obese and Non-Obese Children with Early Puberty

Jang Kyung-Mi , Moon Jung-Eun , Ko Cheol-Woo

Background: Leptin is mainly produced by adipocytes. In animal and human, it is a potnet anorectic and increases in obesity. Some reported that precocious puberty is prevelent in children with obesity.Objective and hypotheses: This study was done to see the changes of blood leptin levels in both obese and non-obese children with early puberty or precocious puberty.Method: Study patients consist of 325 children with early puberty or...

hrp0086p1-p819 | Syndromes: Mechanisms and Management P1 | ESPE2016

Clinical and Molecular Characterization of a Newly Recognized Overgrowth Syndrome: Interstitial 7q22.1-7q22.3 Microdeletion

Cheon Chong Kun , Kim Yoo-Mi , Kim Su Young

Background: Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay, neurological problems and an increased risk of neoplasia. The genetic basis for many of these conditions is being increasingly elucidated. Here, we report on a 3-year-old boy who was referred for evaluation of generalized overgrowth.Objective and hypotheses: Our hypotheses is that unclassified...

hrp0082p2-d2-304 | Bone (1) | ESPE2014

Age-and Gender-Specific Reference Values of Bone Mineral Density in Korean Adolescents and Young Adults

Hye Kim Shin , Jung Park Mi , Hee Kim Duk

Background: Low bone mass during growth may increase risk of fracture. Adequate reference data for bone mineral density (BMD) are needed to identify adolescents with bone deficit.Objective and hypotheses: We aimed to provide normative values and reference curves for BMD in Korean adolescents and young adults.Method: Using the data from Korean Nutrition Health and Nutrition Examination Survey (KNHANES) in 2008–2011, a total of ...