hrp0092p1-200 | Fat, Metabolism and Obesity (1) | ESPE2019

Ferritin, an Indicator for Inflammation or Iron Storage in Obese Children?

Wu Wei , Yuan Jinna , Yu Yunxian , Shen Yu , Dong Guanping , Huang Ke , Zhang Li , Fu Junfen

Ferritin is a widely used iron storage indicator. At the same time, it is also viewed as an indicator of inflammation. Chronic low-grade inflammation in obese individual, especially in the one with metabolic disorders, related to comorbidities and poor prognosis. Both hyperglycemia and iron overload can induce inflammation and result in vascular endothelial dysfunction. To study the role of ferritin in obese children and its impact on artery and liver, the present study invest...

hrp0092lb-24 | Late Breaking Posters | ESPE2019

Abdominal Adiposity and Total Body Fat as Predictors of Cardiometabolic Health in Pre-Pubertal and Pubertal Youth

Jin Binghan , Derraik José G B , Fu JunFen , Lin Hu , Yuan Jinna , Dong Guanping

Objective: We aimed to investigate the usefulness of abdominal adiposity and total body fat as predictors of cardiometabolic health, especially insulin sensitivity, in children and adolescents.Methods: Participants were 479 children and adolescents with obesity (322 boys and 157 girls) aged 3 to 18 years attending the Children's Hospital at Zhejiang University School of Medicine (Hangzhou, China). Participants underw...

hrp0092p2-29 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Clinical and Genetic Characteristics of Pseudohypoparathyroidism Type 1A in Children Based on Single-center Cohort Study

Zhou Xuelian , Wu Wei , Huang Ke , Dong Guanping , Yuan Jinna , Liang Xinyi , Zhu Mingqiang , Fu Junfen

Background: Pseudohypoparathyroidism 1A (PHP1A) is a rare disease caused by mutations of GNAS gene, and characterized by Albright's hereditary osteodystrophy (AHO) and resistance to multiple hormones. Infantile onset is often missing diagnosed due to atypical clinical manifestations. This study aims to summarize the clinical and genetic characteristics of child onset PHP1A patients.Methods: 12 patients were ...

hrp0092p2-282 | Thyroid | ESPE2019

Treatment for Graves' Disease in Children and Adolescents: A Long-Term Retrospective Study at a Single Institution

Kim Min-Sun , Song Ari , Park Hyojung , Cho Sung Yoon , Jin Dong-Kyu

Background: Management options are limited for the treatment of Graves' disease (GD) in children and adolescents. Antithyroid drugs (ATDs) remain the first-line therapy in patients with GD, despite a high relapse rate. We investigated the clinical characteristics, treatment, the outcome, and predictors of a remission of children and adolescents with GD at a single center.Methods: We retrospectively reviewed the medic...

hrp0092p3-204 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Central Diabetes Insipidus in Children with Pituitary Stalk Thickening in Two Cases

Sun Manqing , Ma Xiaoyu , Wang Wei , Ni Jihong , Dong Zhiya , Lu Wenli , Xiao Yuan , Wang Defen

We present two cases of a 13-year-old boy and a 12-year-old girl who were initially diagnosed as central diabetes insipidus (CDI). The Magnetic resonance imaging (MRI) showed pituitary stalk thickening with prominent homogeneous contrast enhancement in T1W and the loss of high signal in the posterior pituitary. In addition to CDI, the two children have a common clinical manifestation of growth retardation, with the laboratory tests suggesting complete growth hormone deficiency...

hrp0092p3-261 | Thyroid | ESPE2019

Mutation of RET Gene Causes Multiple Endocrine Neoplasia Type 2B in an Adolescent: Report of One Case and Literature Review

Zhang Lidan , Guo Yan , Ye Lei , Dong Zhiya , Lu Wenli , Wang Wei , Xiao Yuan

Objective: To summarize the clinical features and genetic characteristics of a patient with multiple endocrine neoplasia type 2B (MEN2B) and to review the literatures.Methods: We summarized clinical features, gene sequencing result, treatment and prognosis of a child suffered with MEN2B who was admitted to the Department of Pediatrics, Ruijin Hospital, Shanghai Jiaotong University School of Medicine in February 2016. And...

hrp0082p2-d3-313 | Bone (2) | ESPE2014

Osteogenesis Imperfecta Type I Caused by a Novel Mutation in the Start Codon of the COL1A1 Gene in a Korean Family and the Course of Pamidronate Treatment for 1 Year

Cho Sung Yoon , Jin Dong-Kyu , Yu Jae-Hong , Han Heon-Seok

Background: A 3-year-old boy appeared healthy at birth and did not experience any fractures until 12 months of age. Blue sclera, frequent fractures without adequate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility were characteristics suggestive of OI type I that were observed in the patient. The patientÂ’s mother had blue sclera and a history of frequent fracture episodes until the age of 15 years.</...

hrp0084fc2.1 | Bone &amp; Mineral Metabolism | ESPE2015

Whole Exome Sequencing Analysis of Patients with Autosomal Recessive Hypophophatemic Rickets Identified Mutations in DMP1, ENPP1 and SLC34A3

Li Dong , Tenenbaum-Rakover Yardena , Tian Lifeng , Hou Cuiping , Kim Cecilia , Hakonarson Hakon , Levine Michael

Background: Hypophosphatemic rickets (HR) is most commonly X-linked or autosomal dominant, but autosomal recessive (AR) forms have been described. ARHR1 (DMP1) and ARHR2 (ENPP1) share identical biochemical characteristics of excessive renal phosphate wasting due to increased circulating levels of the phosphatonin FGF23 and low serum levels of 1,25(OH)2D. By contrast, in hereditary hypophosphatemic rickets with hypercalciuria (HHRH) phosphaturia is ...

hrp0084fc2.2 | Bone &amp; Mineral Metabolism | ESPE2015

Identification of Mutations in TBX1 and AIRE in Isolated Hypoparathyroidism Patients

Li Dong , Schnellbacher Sarah , Tian Lifeng , Hou Cuiping , Kim Cecilia , Hakonarson Hakon , Levine Michael

Background: Hypoparathyroidism may manifest either as an isolated disorder or as a component of a more complex syndrome. Molecular genetic studies indicate that mutations in PTH, CASR, GCM2 and GNA11 are causes of isolated hypoparathyroidism (IH) and mutations in GATA3, TBCE, FAM111A, AIRE and TBX1 are associated with different complex syndromes with hypoparathyroidism.Objec...

hrp0084p1-154 | Miscelleaneous | ESPE2015

Novel Compound Heterozygous BMP1 Variants Associated with Osteogenesis Imperfecta

Yang Aram , Huh Rimm , Kim Jinsup , Cho Sung Yoon , Jin Dong-Kyu

Background: Osteogenesis imperfecta (OI) includes a group of disorders with a susceptibility to bone fractures, the presentation ranging from slightly increased fracture frequency to death in the perinatal period.Objective and hypotheses: Autosomal-dominant inheritance with type I collagen biosynthesis defects is the most common, but many autosomal-recessive genes have been previously reported.Method: Whole-exome sequencing was per...