OR03 From the Genome to the Clinic: Growth and Puberty Disorders

Program: Abstracts - Orals, Poster Previews, and Posters
Oral Session
Pediatric Endocrinology-Bench to Bedside
Thursday, March 5, 2015: 11:30 AM-1:00 PM
Room 11 (San Diego Convention Center)
**This session is eligible for CME credit**

Chairs:
Mark A Sperling, MD, FRACP, MBBS, Children's Hospital of Pittsburgh, Pittsburgh, PA and Andrew Dauber, MD, Cincinnati Children's Hospital Medical Center, Cincinnati, OH

Nothing to Disclose: MAS, AD Disclosure Not Provided: NM
11:30 AM
María Teresa Muñoz-Calvo, MD, PhD1, Vicente Barrios, PhD1, Jesús Pozo, MD, PhD1, Gabriel Ángel Martos-Moreno, MD, PhD1, Federico G Hawkins, MD, PhD2, Horacio M Domene, PhD3, Hector G. Jasper, MD4, Shoshana Yakar, PhD5, Cheryl A Conover, Ph.D.6, John J Kopchick, PhD7, Julie Ann Chowen, PhD1, Ron G Rosenfeld, M.D.8, Luis A Pérez-Jurado, MD, PhD9 and Jesús Argente, MD. PhD1, (1)Pediatrics & Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús. Universidad Autónoma de Madrid. CIBERobn, Instituto de Salud Carlos III, Madrid, Spain
(2)Endocrinology, 12 de Octubre University Hospital, Madrid, Spain
(3)Endo Rsrch Ctr (CEDIE), R Gutierrez Children's Hosp, Buenos Aires, Argentina
(4)Division of Endocrinology, Ricardo Gutierrez Children´s Hospital, and Center for Endocrinology Research, CEDIE/CONICET, Buenos Aires, Argentina.
(5)Department of Basic Science and, New York University College, New York, NY
(6)Endocrinology Research Unit, Mayo Clinic, Rochester, MN
(7)Edison Biotechnology Institute, Ohio University, Athens, OH
(8)Department of Pediatrics, Oregon Health and Science University, Portland, OR
(9)Genetics, Universitat Pompeu Fabra.Hospital del Mar Research Institute (IMIM). CIBERER, Instituto de Salud Carlos III., Barcelona, Spain
11:45 AM
Isabelle Maystadt, MD, PhD1, Shayne F Andrew, BS2, Jean De Schepper3, Nathalie Wauters, MD4, Valerie Benoît, PhD1, Pascal Joset5, Beatrice Oneda6, Andrew Dauber, MD7, Ron G Rosenfeld, M.D.8, Anita Rauch, PhD6 and Vivian Hwa, PhD7, (1)Center for Human Geneticts, Institut de Pathologie et de Génétique, Gosselies, Belgium
(2)Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
(3)Department of Endocrinology, Ghent University Hospital, Ghent, Belgium
(4)Pediatrics, Hopital Civil de Charleroi, Charleroi, Belgium
(5)6Institute of Medical Genetics, University of Zurich, Zurich-Schwerzenbach, Switzerland
(6)Institute of Medical Genetics, University of Zurich, Zurich-Schwerzenbach, Switzerland
(7)Division of Endocrinology, Cincinnati Center for Growth Disorders, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
(8)Department of Pediatrics, Oregon Health and Science University, Portland, OR
12:00 PM
Giampaolo Trivellin, PhD1, Adrian F Daly, MB BCh, PhD2, Fabio R Faucz, PhD1, Bo Yuan, PhD3, Liliya Rostomyan, MD2, Darwin Omar Larco, PhD4, Marie Helene Schernthaner-Reiter, MD, PhD1, Eva Szarek, PhD1, Leticia Ferro Leal, MSc1, Jean-Hubert Caberg, PhD5, Emilie Castermans, PhD5, Chiara Villa, MD, PhD6, Aggeliki Dimopoulos, MD, PhD7, Prashant Chittiboina, MD8, Paraskevi Xekouki, MD, D(Med)Sci1, Nalini Samir Shah, MD, DM9, Daniel Metzger, MD10, Philippe A Lysy, MD, PhD11, Emanuele Ferrante12, Natalia Strebkova, MD13, Nadia Mazerkina, MD14, Maria Chiara Zatelli, MD, PhD15, Maya Beth Lodish, MD1, Anelia Dafinova Horvath, PhD1, Rodrigo Bertollo de Alexandre1, Allison D Manning, MSc16, Isaac Levy, MD1, Margaret Keil, PhD, CRNP1, Maria De La Luz Sierra, MS1, Leonor Palmeira, PhD17, Wouter Coppieters, PhD17, Michel Georges, MD, PhD17, Luciana Ansaneli Naves, MD, PhD18, Tim D Cheetham, MD19, Gustavo Barcelos Barra20, Mauricette Jamar, MD5, Vincent Bours, MD, PhD5, Tao-Yiao J Wu, PhD21, Catherine S Choong, MD, MBBS22, Jerome Yves Bertherat, MD, PhD23, Philippe Chanson, MD24, Peter Kamenický, MD, PhD24, William E. Farrell, PhD25, Anne Barlier, MD PhD26, Martha M. Quezado, M.D.27, Ivana Bjelobaba, PhD28, Stanko S Stojilkovic28, Jurgen Wess29, Stefano Costanzi, PhD30, Pengfei Liu, PhD3, James R Lupski, MD, PhD31, Albert Beckers, MD, PhD2 and Constantine A Stratakis, MD1, (1)Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD
(2)Department of Endocrinology, CHU de Liège-University of Liège, Liège, Belgium
(3)Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX
(4)Department of Obstetrics and Gynecology, Uniformed Services University, Bethesda, MD
(5)Department of Clinical Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium
(6)Department of Endocrinology, University of Liège, Liège, Belgium
(7)Section on Endocrinology and Genetics, Program on Developmental Endocrinology & Genetics (PDEGEN) & Pediatric Endocrinology Inter-institute Training Program, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD
(8)Surgical Neurology Branch, National Institute of Neurological Diseases and Stroke (NINDS), National Institutes of Health, Bethesda, MD
(9)Department of Endocrinology, KEM Hospital, Mumbai, Maharashtra, India
(10)Endocrinology and Diabetes Unit, BC Children's Hospital, Vancouver, BC, Canada
(11)Pediatric Endocrinology Unit, Université Catholique de Louvain, Brussels, Belgium
(12)Endocrinology and Diabetology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy
(13)Endocrinological Research Centre, Institute of Pediatric Endocrinology, Moscow, Russia
(14)Burdenko Neurosurgery Institute, Moscow, Russia
(15)Dept of Medical Sciences, University of Ferrara, Ferrara, Italy
(16)Program on Developmental Endocrinology and Genetics, Section on Endocrinology & Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, MD
(17)GIGA-Genomics, Liège, Belgium
(18)Endocrinology, University of Brasilia, Brasilia, Brazil
(19)Department of Paediatric Endocrinology, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne, United Kingdom
(20)Laboratorio Sabin, Brasilia, Brazil
(21)Obstetrics and Gynecology, Uniformed Services University, Bethesda, MD
(22)Dept of Pediatric Endo & Diab, Princess Margaret Hospital for Children, Subiaco WA, Australia
(23)Reference Center for Rare Adrenal Diseases, Assistance Publique Hopitaux de Paris, Hospital Cochin, INSERM U 1016, CNRS 8104, Institut Cochin, Paris Descartes University, Paris, France
(24)Hôpital de Bicêtre, Service d’Endocrinologie et des Maladies de la Reproduction, Univ Paris-Sud, UMR-S693, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France
(25)Human Disease and Genomics Group, Institute of Science and Technology in Medicine, School of Medicine, Keele University, Stoke on Trent, Staffordshire, United Kingdom
(26)CRN2M - UMR 7286 CNRS, Aix-Marseille University, Marseille, France
(27)Laboratory of Pathology, National Cancer Institute, Bethesda, MD
(28)Section of Cellular Signaling, Program in Developmental Neuroscience, Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD
(29)LBC, Molecular Signaling Section, NIH-NIDDK, Bethesda, MD
(30)Department of Chemistry and Center for Behavioral Neuroscience, American University, Washington, DC
(31)Department of Molecular and Human Genetics and Department of Pediatrics, Baylor College of Medicine, Houston, TX
12:15 PM
Ana Paula Abreu1, Victor M. Navarro, PhD1, Aysegul Eren1, Joy N. Liang1, John C Gill, PhD1, Sekoni D. Noel, PhD1, Iain Robert Thompson, MSC, PHD1, Stephanie A. Roberts1, Rona S. Carroll, PhD1, Ana Claudia Latronico, MD, PhD2 and Ursula B Kaiser, MD, PHD1, (1)Division of Endocrinology/Diabetes, Brigham and Women's Hospital/Harvard Med School, Boston, MA
(2)Disciplina de Endocrinologia e Metabologia, Laboratório de Hormônios e Genética Molecular/ LIM42, Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, Sao Paulo, Brazil
12:30 PM
Julian Lui, PhD1, Kevin Barnes2, Presley Garrison3, Abigail Paulson3, Vijay Shimoga3, Ola Nilsson, MD, PHD4 and Jeffrey Baron, MD4, (1)Program on Developmental Endocrinology and Genetics, NICHD, Bethesda, MD
(2)CRC/Room 1E-3330, NICHD, Bethesda, MD
(3)PDEGEN, NICHD
(4)Program on Developmental Endocrinology and Genetics, NICHD, NIH, Bethesda, MD
12:45 PM
Adam Stevens1, Chiara De Leonibus1, Philip Murray1, Ekaterina B Koledova2, Pierre Chatelain, MD3 and Peter Clayton, MD, PHD, MRCP, FRCC, BSC4, (1)Manchester Academic Health Science Centre, University of Manchester and Royal Manchester Children’s Hospital, Manchester, United Kingdom
(2)Merck KGaA, Darmstadt, Germany
(3)Départment de Pédiatrie, Université Claude Bernard, Lyon, France
(4)Institute of Human Development, University of Manchester & Manchester Academic Health Sciences Centre, Manchester, United Kingdom