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55th Annual ESPE

Paris, France
10 Sep 2016 - 12 Sep 2016

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Paris, France: 10-12 September 2016 Further information

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Syndromes: Mechanisms and Management

hrp0086fc6.1 | Syndromes: Mechanisms and Management | ESPE2016

Ghrelin-Reactive Autoantibodies are Elevated in Children with Prader-Willi Syndrome Compared to Unaffected Sibling Controls

Crisp Gabrielle , Nyunt Ohn , Musthaffa Yassmin , Seim Inge , Chopin Lisa , Harris Mark , Jeffery Penny

Background: Prader-Willi Syndrome (PWS) is a complex genetic disorder characterised by developmental and growth abnormalities, insatiable appetite, and excessive eating (hyperphagia). Hyperphagia is thought to be driven by supraphysiological levels of the appetite stimulating hormone ghrelin; however, the underlying causes of hyperghrelinaemia in PWS are currently unknown. Recently, ghrelin-reactive autoantibodies (isotype IgG) were identified in non-genetic obesity and were f...

hrp0086fc6.2 | Syndromes: Mechanisms and Management | ESPE2016

Whole Exome Sequencing Identifies EPHB4 and PIk3R6 as Causes of Generalized Lymphatic Anomaly

Li Dong , Wenger Tara , Seiler Christoph , March Michael , Tian Lifeng , Kao Charlly , Pandey Rahul , Nguyen Kenny , Chiavacci Rosetta , Sleiman Patrick , Itkin Maxim , Dori Yoav , Hakonarson Hakon

Background: Generalized lymphatic anomaly (GLA) is a rare congenital disorder characterized by aggressive proliferation of dilated lymphatic vessels. The etiology of GLA is poorly understood.Objective and hypotheses: To identify the underlying genetic basis for GLA.Method: Exome sequencing (ES) was performed in two families, including a multigenerational family (family-1) with six affected members. RNA-seq was performed on skin bio...

hrp0086fc6.3 | Syndromes: Mechanisms and Management | ESPE2016

Oxytocin Improves Social and Food-Related Behavior in Young Children with Prader-Willi Syndrome: A Randomized, Double-Blind, Controlled Crossover Trial

Kuppens Renske , Donze Stephany , Hokken-Koelega Anita

Background: Prader-Willi syndrome (PWS) is known for hyperphagia with impaired satiety and a specific behavioral phenotype with stubbornness, manipulative and controlling behavior and obsessive-compulsive features. PWS is associated with hypothalamic and oxytocinergic dysfunction. In humans without PWS, intranasal oxytocin administration had positive effects on social behavior and weight balance.Objective and hypotheses: To evaluate the effects of intran...

hrp0086fc6.4 | Syndromes: Mechanisms and Management | ESPE2016

Chromosome 14 Imprinted Region DLK1/GTL2 Disruption: An Alternative Molecular Etiology for Silver-Russell Syndrome

Geoffron Sophie , Habib Walid Abi , Canton Ana , Brioude Frederic , Netchine Irene

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

hrp0086fc6.5 | Syndromes: Mechanisms and Management | ESPE2016

Pathogenic Copy Number Variants are Frequently Identified in Children with Short Stature of Unknown Etiology

Canton Ana , Homma Thais , Furuya Tatiane , Roela Rosimeire , Arnhold Ivo , Jorge Alexander

Background: The etiology of short stature is heterogeneous, often encompassing complex genetic disorders of difficult diagnosis. Analysis of chromosomic copy number variants (CNVs) has been demonstrating the important role of these genomic imbalances in population diversity and human disease.Objective and hypotheses: To analyze the frequency and describe novel submicroscopic chromosomal CNVs in a group of patients with short stature of unknown cause....

hrp0086fc6.6 | Syndromes: Mechanisms and Management | ESPE2016

Social Cognition Skills and Face Perception in Turner Syndrome (TS)

Gepstein Vardit , Anaki David , Zadikov Tal , Hochberg Ze'ev

Background: Patients with TS frequently demonstrate impairments in social cognition difficulties, visual-spatial processing, face and emotion perception.Objective and hypotheses: We examined face perception in the context of perceptual visual dysfunctions and social cognition skills in TS.Method: 26 young women with TS on estrogen replacement therapy, and 26 control participants. They were tested on various cognitive and psychologi...