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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

Free Communications

Pituitary

The MAPK Effector BRAF is Essential for the Integrity of Hypothalamic-Pituitary Development and Deregulation of this Pathway Causes Congenital Hypopituitarism
aDevelopmental Endocrinology Research Group, UCL, Insititute of Child Health, London, UK; bCenter for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary Univeristy, London, UK; cDepartment of Paediatric Endocrinology, South Hampton Children Hospital, Southhampton, UK
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Spectrum of LHX4 Mutations in a Cohort of 510 Patients with Hypopituitarism
aInserm UMR_S933 and UPMC Univ Paris 06, Hôpital Trousseau, Paris, F-75012, France; bU.F. de Génétique moléculaire, Hôpital Trousseau, AP-HP, Paris, F-75012, France; cService de Pédiatrie Endocrinologie, CHU de Besançon, Besançon, F-25000, France; dExplorations fonctionnelles endocriniennes, Hôpital Trousseau, Paris, F-75012, France; eLaboratoire de Biologie générale, Faculté des Sciences, Rabat, Morocco; fService d’Endocrinologie pédiatrique, AP-HP, Hôpital Robert Debré, Paris, F-75019, France; gPediatrics, IRCCS G. Gaslini, University of Genoa, Genoa, 16147, Italy; hService d’Endocrinologie et Génétique, Hôpital des Enfants, CHU de Toulouse, Toulouse, F-70000, France; iService d’Endocrinologie pédiatrique, AP-HP, Hôpital Necker, Paris, F-75015, France; jService d’Endocrinologie, AP-HP, Hôpital Pitié-Salpêtrière, Paris, F-75013, France
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Contribution of GLI2 Mutations to Pituitary Deficits and Delineation of the Associated Phenotypic Spectrum
aInserm UMR_S933 and UPMC Université Paris 06, Hôpital Trousseau, Paris, F-75012, France; bU.F. de Génétique moléculaire, Hôpital Trousseau, AP-HP, Paris, F-75012, France; cService de Neuropédiatrie, Hôpital Trousseau, AP-HP, Paris, F-75012, France; dService d’Endocrinologie pédiatrique, Hôpital Robert Debré, AP-HP, Paris, F-75019, France, eService de Pédiatrie, Centre Hospitalier de Mantes-La-Jolie, Mantes-La-Jolie, France, fService de Médecine infantile, CHU de Nancy, Vandoeuvre, France, gService de Pédiatrie 1, CHU de Besançon, Besançon, France, hService d’Endocrinologie pédiatrique, Hôpital du Scorff, CHBS, Lorient, France, iUnité fonctionnelle d’Endocrinologie pédiatrique, CHU de Rennes, Hôpital Sud, Rennes, France, jService d’Endocrinologie pédiatrique, Hôpital Necker, AP-HP, Paris, F-75015, France, kService de Pédiatrie, Hôpital de la Tour, Geneva, Switzerland, lService de Génétique médicale, CH d’Arras, Arras, France, mPediatric Endocrinology unit, Kaplan Medical Center, Rehovot, Israel
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A Novel Mutation in Eukaryotic Translation Initiation Factor 2 Subunit 3 (EIF2S3) is Associated with X-Linked Hypopituitarism and Glucose Dysregulation
aUCL Institute of Child Health/Great Ormond Street Hospital, London, UK; bChelsea and Westminster Hospital, London, UK; cKing’s College Hospital, London, UK; dWilliam Harvey Research Institute, London, UK
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Pegvisomant is More Effective in Stunting Growth than Somatostatin Analogs in Childhood Acromegaly/Gigantism
aAP-HP Hôpitaux Paris-Sud site Bicêtre, Le Kremlin Bicetre, France; bHôpital de la Timone, Marseille, France; cHôpital Purpan, Toulouse, France; dHôpital Foch, Suresnes, France; eUniversité Paris-Sud, Le Kremlin Bicetre, France
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