hrp0084p3-956 | GH & IGF | ESPE2015

A 5-year Follow-up of Adults, with Childhood-Onset GH Deficiency, Treated with GENOTONORM® in France

Touraine Philippe , Borson-Chazot Francoise , Delemer Brigitte , Brue Thierry

Background: Young adult patients with childhood-onset GH deficiency (GHD) whose GH replacement therapy (GHRT) is discontinued exhibit negative metabolic and physiological effects, reversible through GHRT.Objective and hypotheses: To report the characteristics and 5-year GHRT in adults with childhood-onset GHD.Method: Analysis of the subgroup of adults with childhood-onset GHD included between March 2003 and October 2006 in KIMS. In...

hrp0092p3-269 | Late Breaking Abstracts | ESPE2019

IGSF1 Mutation: Treatment in the Absence of Symptoms?

Castets Sarah , Vergier Julia , Godefroy Alice , Saveanu Alexandru , Collignon Patrick , Brue Thierry , Reynaud Rachel

Introduction: Congenital central hypothyroidism is a rare pathology, whose molecular origin has been identified more frequently since discovery of the role of IGSF1. The natural evolution of central hypothyroidism in patients with mutations is not well known however.Case report: A male infant born at term with a normal birth weight received thyroid function tests in the neonatal period because of symptoms of bra...

hrp0084p1-159 | Miscelleaneous | ESPE2015

FOXL2 Gene and Combined Pituitary Hormone Deficiency: A Possible Link

Castets Sarah , Saveanu Alexandru , Raybaud Christine , Mallet Delphine , Roucher Florence , Morel Yves , Brue Thierry , Reynaud Rachel , Nicolino Marc

Background: Congenital hypopituitarism is a rare disease. Although our understanding of the involved transcription factors is improving, mutations in candidate genes are rarely identified. Extra-pituitary symptoms can point towards new genes of interest. FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), a rare affection that combines congenital alterations of eyelids with ovarian dysgenesis in some families. Moreover, we have previously reported ...

hrp0086p2-p703 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

French National Healthcare Network for Rare Endocrine Diseases (FIRENDO): The First Year of Activity to Monitor Patients with Rare Endocrine Diseases

Givony Maria , Minime Fanny , Lopes Euma Fortes , Varillon Yvonne , Le Verger Delphine , Ghenim Sabine , Provost Marion , Rahabi-Layachi Haifa , Bouvattier Claire , Polak Michel , Brue Thierry , Nunes Marie-Laure , Delemer Brigitte , Netchine Irene , Mouriquand Pierre , Borson-Chazot Francoise , Bony-Trifunovic Helene , Rodien Patrice , Juliane Leger , Bertherat Jerome

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO ( includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...