hrp0092fc2.5 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Age and Gender-Specific Reference Data for High-Resolution Magnetic Resonance Based Musculoskeletal Parameters in Healthy Children and Young People

Elsharkasi Huda M. , Chen ¹Suet C. , Steell Lewis , Joseph Shuko , Abdalrahman Naiemh , Johnston Blair , Foster John E. , Wong Sze C. , Ahmed S. Faisal

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

hrp0092fc2.6 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Validation of a New Version of BoneXpert Bone Age in Children with Congenital Adrenal Hyperplasia (CAH), Precocious Puberty (PP), Growth Hormone Deficiency (GHD), Turner Syndrome (TS), and other Short Stature Diagnoses

Thodberg Hans Henrik , Martin David D

Background: The BoneXpert method for automated determination of bone age from hand X-rays is based on machine learning, so it lends itself naturally to be improved by adding more training data and using better learning algorithms. Currently, version 2 is running in 145 hospitals across Europe, and a new version 3 is rolled out in 2019.Objective and Hypotheses: The aim was to validate version 3 against manual ratings in r...

hrp0092fc3.1 | Multi-system Endocrine Disorders | ESPE2019

Germline-Derived Gain-of-Function Variants of Gsα-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis: The First Report

Fukami Maki , Miyado Mami , Takada Shuji , Sasaki Goro , Nagasaki Keisuke , Masunaga Youhei , Saitsu Hirotomo , Ogata Tsutomu

Background: The stimulatory G-protein α-subunit encoded by GNAS exons 1–13 (GNAS-Gsα) mediates signal transductions of multiple G-protein-coupled receptors including arginine vasopressin (AVP) receptor 2 (AVPR2). To date, various germline-derived loss-of-function variants of maternal and paternal origin have been found in pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism respectively, and specific somatic gain...

hrp0092fc3.2 | Multi-system Endocrine Disorders | ESPE2019

CFTR Loss-of-Function has Effects on microRNAs (miRNAs) that Regulate Genes Involved in Growth, Glucose Metabolism and in Fertility in in vitro Models of Cystic Fibrosis

Cirillo Francesca , Catellani Cecilia , Graziano Sara , Montanini Luisa , Smerieri Arianna , Lazzeroni Pietro , Sartori Chiara , Marmiroli Nelson , Amarri Sergio , Gullì Mariolina , Elisabeth Street Maria

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...

hrp0092fc3.3 | Multi-system Endocrine Disorders | ESPE2019

Variability in Drug Metabolizing Cytochrome P450 Activities Caused by Human Genetic Variations in NADPH Cytochrome P450 Oxidoreductase (POR)

Velazquez Maria Natalia Rojas , Parween Shaheena , Pandey Amit V

Background: A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-2). Cytochrome P450 proteins perform several reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic variations in POR can impact many different metabolic pathways by changing the activities of cytochromes P450 (1). In 2004 the first human patients with defe...

hrp0092fc3.4 | Multi-system Endocrine Disorders | ESPE2019

Droplet Digital PCR is a Useful Method for Detection of Mosaic Mutations in Patients with McCune-Albright Syndrome

Watanabe Satoshi , Dateki Sumito , Moriuchi Hiroyuki , Yoshiura Koh-ichiro

Introduction: McCune-Albright syndrome (MAS) is caused by somatic mosaic mutations in the GNAS gene. Detection of the GNAS mutations is usually difficult because of the low frequency mosaicism. Droplet digital polymerase chain reaction (ddPCR) is a new technology that enables to measure absolute quantities of target nucleic acids in a sample by counting nucleic acid molecules encapsulated in discrete water-in-oil droplet partitions.<p cla...

hrp0092fc3.5 | Multi-system Endocrine Disorders | ESPE2019

Evaluation of Endocrine Late Effects in Survivors of Childhood Allogeneic Hematopoietic Stem Cell Transplantation in Australia – Database from 1985 to 2011

Lai-Ka Lee Samantha , Tiedemann Karin , Zacharin Margaret

Background: With improved survival of childhood allogeneic hematopoietic stem cell transplant (HSCT), there is increasing need for surveillance, including assessment of endocrine late effects in this cohort1,2.Aim: To evaluate endocrine late effects after chemotherapy and radiation in survivors of childhood allogeneic HSCT.Methods: Multi-site evaluation via medical recor...

hrp0092fc3.6 | Multi-system Endocrine Disorders | ESPE2019

Severe Infections Contribute to Increased Risk of Early Death in Patients with Apeced

Borchers Joonatan , Mäkitie Outi , Laakso Saila

Introduction: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disease that is characterized by a combination of various endocrinopathies and other autoimmune disease components. Few longitudinal studies have shown a decreased life expectancy in APECED. However, knowledge on mortality and causes of death in patients with APECED is scarce.Objective: Our aim was to descr...

hrp0092fc4.1 | Fat Metabolism and Obesity Session | ESPE2019

Involvement of Visfatin in Adipose Tissue Fibrosis Through Modulation of Extracellular Matrix Proteins

Nourbakhsh Mitra , Ezzati Mobasser Samira , Malekpour Dehkordi Zahra , Nourbakhsh Mona , Razzaghy Azar Maryam

Introduction: Obesity development and subsequent white adipose tissue (WAT) expansion is often accompanied by WAT fibrosis which leads to adipocyte dysfunction. Fibrosis is a condition in which extracellular matrix (ECM) proteins are increased aberrantly and results in immune cell infiltration, cytokine production and insulin resistance. Visfatin is an adipokine that is implicated in obesity and its metabolic consequences; however, its role in WAT fibrosis has...

hrp0092fc4.2 | Fat Metabolism and Obesity Session | ESPE2019

Characterization of the Adipose Progenitor Cell Marker MSCA1 in Normal Weight and Obese Children

Hanschkow Martha , Bouloumié Anne , Dietrich Arne , Kiess Wieland , Körner Antje , Landgraf Kathrin

Background: Obesity is characterized by an increase in fat mass caused by an increase in adipocyte number and adipocyte size and is often associated with adipose tissue (AT) dysfunction contributing to metabolic impairment. It is suspected that adipocyte progenitor cells play an important role during healthy and obesity-related AT expansion. Studies in adults showed that the stroma vascular fraction (SVF) of AT is composed of different progenitor cell subpopul...