hrp0082p1-d1-235 | Thyroid | ESPE2014

A Nonsense Thyrotropin Receptor Gene Mutation (R609X) is Associated with Congenital Hypothyroidism and Heart Defects*

Cangul Hakan , Bas Veysel Nijat , Saglam Yaman , Kendall Michaela , Barrett Timothy G , Maher Eamonn R , Aycan Zehra

Background: Congenital hypothyroidism, one of the most important preventable causes of mental retardation, is a clinical condition characterized by thyroid hormone deficiency in newborns.Objective and hypotheses: Congenital hypothyroidism is most often caused by defects in thyroid development leading to thyroid dysgenesis. TSH receptor (TSHR) is the main known gene causing thyroid dysgenesis in consanguineous families with congenital hypothyroidism. In t...

hrp0084p2-471 | Growth | ESPE2015

Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study

Aston Kayleigh , Grosvenor Gemma , Peters Catherine , Mathew Verghese , Blair Joanne , Chapman Simon , Buchanan Charles , Maher Eamonn , Dias Renuka

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

hrp0089p1-p179 | Growth & Syndromes P1 | ESPE2018

Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management

Brioude Frederic , Kalish Jennifer M. , Mussa Alessandro , C. Foster Alison , Bliek Jet , Ferrero Giovanni B. , Boonen Susanne E. , Baker Robert , Bertoletti Monica , Cocchi Guido , Coze Carole , Pellegrin Maurizio De , Hussain Khalid , Krajewska-Walasek Malgorzata , Kratz Christian P. , Bouc Yves Le , Maas Saskia M. , Ounap Katrin , Peruzzi Licia , Rossignol Sylvie , Russo Silvia , Shipster Caroleen , Skorka Agata , Tatton-Brown Katrina , Tenorio Jair , Tortora Chiara , Gronskov Karen , Netchine Irene , Hennekam Raoul C. , Prawitt Dirk , Tumer Zeynep , Eggermann Thomas , Mackay Deborah J. G. , Riccio Andrea , Maher Eamonn R.

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...