Volume 82 | ESPE2014 | Next issue

ESPE 2014

Dublin, Ireland
18 Sep 2014 - 20 Sep 2014

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Dublin, Ireland; 18-20 September 2014. Further information

hrp0082fc4.1 | Growth | ESPE2014

Heterozygous IGF1R Mutations Represent a Frequent Finding in Patients with Pre- and/or Postnatal Proportional Undergrowth and Low, Normal or Supranormal IGF1

Campos-Barros Angel , Gomez-Nunez Ana , Gonzalez-Casado Isabel , Salamanca-Fresno Luis , Garcia-Minaur Sixto , Ros-Perez Purificacion , Borras-Perez Victoria , Audi Laura , Rosell-Andreo Jordi , de Sotto-Esteban Diego , Garcia-Cuartero Beatriz , Gonzalez-Vergaz Amparo , Cruz-Rojo Jaime , Garzon Lucia , Gallego-Gomez Elena

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...

hrp0082fc4.2 | Growth | ESPE2014

The Effect of grB10-Deficiency in Zebrafish: A Translational Animal Model to Study Human Growth

De Leonibus Chiara , Barinaga-Rementeria Ramirez Irene , Hurlstone Adam , Clayton Peter , Stevens Adam

Background: GRB10 negatively regulates IGF1 signalling, influences growth and promoter polymorphisms are associated with GH response1. GRB10 knockout-mouse models display foetal overgrowth2, however, the mouse model has only partial similarity to human growth3. There is evidence that the zebrafish is an appropriate model to study growth4 and has the advantage of being easily genetically manipulated.<p class="abs...

hrp0082fc4.3 | Growth | ESPE2014

Oscillations in Gene Expression Profiles Across Childhood Highlight the Relation of Growth and Specific Metabolic Functions in Both Sexes

Stevens Adam , Knight Christopher , De Leonibus Chiara , Dowsey Andrew , Swainston Neil , Murray Philip , Clayton Peter

Background: The phases of human growth are associated with gene expression (GE) changes1, raising the possibility that rhythmic patterns of GE occur throughout childhood.Objective: In this study, we have assessed time-series patterns of GE profiles associated with age to characterise oscillations.Methods: GE analysis was conducted on cells of lymphoid origin from normal individuals through childhood (n=87, 43 ma...

hrp0082fc4.4 | Growth | ESPE2014

Short Stature, Accelerated Bone Maturation, and Early Growth Cessation due to Heterozygous Aggrecan Mutations

Nilsson Ola , Guo Michael , Dunbar Nancy , Popovic Jadranka , Flynn Daniel , Jacobsen Christina , Lui Julian , Hirschhorn Joel , Baron Jeffrey , Dauber Andrew

Background: Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. We studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation.Objective and hypotheses: To identify the genetic cause of this condition and describe its clinical spectrum.Method: Whole exome sequencing was performed in selected individuals...

hrp0082fc4.5 | Growth | ESPE2014

Fetal and Postnatal Growth in Turner Syndrome and their Associations with the Dosage Effects of the X-Linked Gene: a Cross-Sectional Data Base Analysis of the French National Rare Disease Network

Zenaty Delphine , Fiot Elodie , Santos Sophie Dos , Boizeau Priscilla , Haignere Jeremie , Leger Juliane , and the French Turner Syndrome Study Group

Background: Shox gene, located on the short arm (p) of the X chromosome, is expressed in the growth plate cartilage in pre and post natal life. Whereas the dose dependent association between the number of active copies of the SHOX gene and height is well established, studies addressing a more subtle variability between the quality of fetal growth, the severity of post natal height deficit and karyotype subgroups in Turner syndrome (TS) are still limited....

hrp0082fc4.6 | Growth | ESPE2014

Longitudinal Growth of Finnish Children With Gestational Diabetes in Mothers

Hakanen Tiina , Vuorela Nina , Lipiainen Ludmila , Salo Matti K , Nummi Tapio , Saha Marja-Terttu

Background: With the increase of overweight prevalence an increasing number of women develop gestational diabetes.Objective and hypotheses: We evaluated the growth of 6902 children of mothers with gestational diabetes. The secular trends in the prevalence of children with gestational diabetes in mothers was studied during 30 years.The material consisted of children born 1974 (n=1108), 1981 (n=977), 1991 (n</em...