hrp0082p3-d1-812 | Growth | ESPE2014

Maternal Inheritance of an Heterozygous Exon 4 IGF1 Gene Mutation (g.65941 G>A) in an IUGR Child with Mild Post Natal Growth Retardation

Houang Muriel , Brioude Frederic , Azzi Salah , Thibaud Nathalie , Perin Laurence , Le Bouc Yves , Netchine Irene

Background: We already described a partial IGF1 primary deficiency due to an exon 4 homozygous missense mutation (g.65941 G>A). A few patients are now described with a heterozygous IGF1 deletion or mutation, questioning about IGF1 haplo insufficiency role in short stature.Results: We describe a boy born from consanguineous parents, with an intra uterine growth restriction (IUGR). Birth weight: 2520 g (−1 SDS) birth length: 46 ...

hrp0084p3-1100 | Pituitary | ESPE2015

Cushing Disease in a Patient with Beckwith–Wiedemann: an Unusual Association

Brioude Frederic , Nicolas Carole , Netchine Irene , Marey Isabelle , Le Bouc Yves , Touraine Philippe

Background: Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome with an increased risk of embryonic tumors during early childhood. About 80% of patients with BWS show a molecular defect in the 11p15 imprinted region. Loss of methylation at the imprinting control region 2 (ICR2) is the most frequent defect which leads to a loss of expression of the CDKN1C gene, increasing cell proliferation. These epigenetic defects occur mostly as a mosaic event.<p cl...

hrp0092fc12.1 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Increasing Knowledge in IGF1R Defects: Lessons from 20 New Patients

Giabicani Eloïse , Willems Marjorie , Steunou Virginie , Chantot-Bastaraud Sandra , Rossignol Sylvie , Le Bouc Yves , Netchine Irène , Brioude Frédéric

Background: IGF1R is a keystone of foetal growth regulation by mediating the effects of both IGF-I and IGF-II. Recently the first clinical cohort of patients carrying an IGF1R defect has been reported from which a clinical score was established for diagnosis. Since no external validation of this score is available we assessed it in a large cohort of patients with identified IGF1R defects. Furthermore we aim at setting-up a functional test to ...

hrp0092lb-11 | Late Breaking Posters | ESPE2019

Height in Inborn Errors of Metabolism Requiring Hypoprotidic Diet: A Longitudinal Follow Up Study About 213 Patients

Busiah kanetee , Roda Célina , Brassier Anaïs , Pontoizeau Clément , Ottolenghi Chris , Piketty Marie , Crosnier Anne-Sophie , Perin Laurence , Le Bouc Yves , Netchine Irène , De Lonlay Pascale

Background: Protein intake is crucial for growth. Many inherited metabolic diseases (IMD) require a strict controlled protein diet.Aim: to evaluate growth, pubertal status and body composition in IMD requiring a strict controlled protein diet.Patients & Méthods: Longitudinal follow up cohort study. We recorded data before 4years (early childhood, n=189); betwe...