hrp0089p2-p293 | Multisystem Endocrine Disorders P2 | ESPE2018

What is the Impact of a Structured Healthcare Pathway Dedicated to Patients in Transition on Their Long-term Follow-up?

Menesguen Florence , Tejedor Isabelle , Malivoir Sabine , Faucher Pauline , Halbron Marine , Popelier Marc , Leger Juliane , Netchine Irene , Polak Michel , Bruckert Eric , Poitou Christine , Touraine Philippe

Management of patients presenting a chronic endocrine or metabolic disease during transition period is a challenge for multiple reasons. The department of Adult Endocrinology and Reproductive Medicine in Pitie Salpêtrière Hospital, Paris has been involved in the management of such patients for many years. However, in our own experience, 81% of patients are still followed-up after 1 year, 71% after 3 years and only 49% after 5 years. Based on such experience, we decid...

hrp0086rfc1.8 | Adrenals | ESPE2016

Adrenal Dysfunction in HIV-Exposed Uninfected Infants Receiving Ritonavir-Boosted Lopinavir, an HIV Protease Inhibitor, for the Prevention of Breastfeeding HIV Transmission. An ANRS 12174 Substudy

Polak Michel , Wudy Stefan , Meda Nicolas , Hartmann Michaela , Kankasa Chipepo , Tumwine James , Laborde Kathleen , Hofmeyr Justus , Vallo Roselyne , Nagot Nicolas , Tylleskar Thorkild , Van de Perre Philippe , Blanche Stephane

Background: We recently demonstrated that both ritonavir-boosted lopinavir (LPV/r) and lamivudine (3TC, a nucleoside analogue) given to breastfed infants can reduce the risk of post natal HIV transmission (ANRS 12174 trial; Nagot, Lancet 2016). In another setting we previously showed the occurrence of adrenal dysfunction in newborn perinatally exposed to LPV/r leading to acute adrenal insufficiency in premature babies (Simon, JAMA 2011).Objective and hyp...

hrp0086rfc9.4 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Prevalence of Monogenic Diabetes in the Lithuanian Pediatric and Young Adult Population

Schwitzgebel Valerie , Dirlewanger Mirjam , Klee Philippe , Santoni Federico , Blouin Jean-Louis , Razanskaite-Virbickiene Dovile , Danyte Evalda , Dobrovolskiene Rimante , Marciulionyte Dalia , Stankute Ingrida , Verkauskiene Rasa

Background: Monogenic diabetes is a heterogeneous group of metabolic disorders resulting from defects in single genes. Over 90% of the subjects remain undiagnosed, mainly because of lack of access to genetic testing.Objective and hypotheses: The aim of our study was to do a comprehensive genetic analysis of the whole pediatric and young adult autoimmune antibody negative diabetes population of Lithuania.Method: 860 children (age 0&...

hrp0086rfc14.1 | Growth : Mechanisms | ESPE2016

Important Contribution of GH, GHRHR and GHSR Mutations in Isolated Growth Hormone Deficiency with a Normal Location of the Posterior Pituitary –Functional Characterization of New Variants

Cohen Enzo , Sobrier Marie-Laure , Dastot Florence , Collot Nathalie , Rose Sophie , Soleyan Aude , Vie-Luton Marie-Pierre , Duquesnoy Philippe , Copin Bruno , Amselem Serge , Legendre Marie

Background: Although growth hormone (GH) and the GH releasing hormone receptor (GHRHR) are known as etiologic factors in non-syndromic isolated growth hormone deficiency (IGHD), very few mutations have been identified in this rare condition (accounting for only 6–12.5% and 0–6.7% of IGHD cases depending on studies). The functional consequences of the identified variants have rarely been assessed.Objective and hypotheses: To assess the contribut...

hrp0086p2-p150 | Bone & Mineral Metabolism P2 | ESPE2016

Prevalence of Vitamin D Deficiency in Haitian Infants and Children

von Oettingen Julia Elisabeth , Sainvil Michele , Lorgeat Viviane , Mascary Marie-Christine , Feldman Henry , Carpenter Christopher , Bonnell Ric , Larco Nancy , Larco Philippe , Stafford Diane , Jean-Baptiste Eddy , Gordon Catherine

Background: Vitamin D deficiency in children is a common cause of rickets, and a potential risk factor for extraskeletal adverse health outcomes. Its prevalence in Haiti has not been assessed.Objective and hypotheses: To examine the prevalence of vitamin D deficiency in dark-skinned young children in Haiti.Method: Cross-sectional study of healthy Haitian children 9 months to 6 years across thr...

hrp0086p1-p546 | Perinatal Endocrinology P1 | ESPE2016

Higher Risk of Low Birth Weight and Multiple Nutritional Deficiencies in Neonates from Mothers after Gastric Bypass: A Case Control Study

Gerard Maxime , Gascoin Geraldine , Salle Agnes , Frein Dorothee , Topart Philippe , Becouarn Guillaume , Schmitt Francoise , Briet Claire , Rouleau Stephanie , Sentilhes Loic , Coutant Regis

Background: Maternal bariatric surgery is associated with increased risk of small-for-gestational-age infants. Risk of nutritional deficiencies in neonates of mothers with prior gastric bypass (GBP) is unclear.Methods: This study compared the clinical and cord blood biological characteristics of 56 newborns of GBP mothers and 56 newborns of healthy mothers, in the Obstetrics Department of Angers University Hospital between 01/03/2008 and 31/10/2012. Afte...

hrp0086p1-p688 | Endocrinology and Multisystemic Diseases P1 | ESPE2016

Thyrotoxicosis, Nephrogenic Syndrome of Inappropriate Antidiuresis, Tall Stature and Mental Retardation Caused by a Novel GNAS Gain of Function Mutation

Houang Muriel , Kottler Marie-Laure , Bensman Albert , Haymann Jean-Philippe , Richard Nicolas , Dunand Olivier , Bastepe Murate , Silve Caroline , Coudray Nathalie , Netchine Irene , Linglart Agnes

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a very rare clinical condition. Patients suffer from hyponatremia, hypo-osmolality with inappropriately elevated urinary osmolality and undetectable AVP levels. Activating mutations of AVPR2, the vasopressin receptor type 2 (V2R), induce a prolonged signaling of the intracellular cAMP/PKA pathway and cause NSIAD in patients.Objective and hypotheses: To describe a new phenotype in a...

hrp0082p1-d3-125 | Fat Metabolism & Obesity (2) | ESPE2014

Impairment of Adipose Tissue in Prader–Willi Syndrome Rescued by GH Treatment

Cadoudal Thomas , Diene Gwenaelle , Sengenes Coralie , Molinas Catherine , Desneulin Flavie , Eddiry Sanaa , Conte Auriol Francoise , Daviaud Daniele , Bouloumie Anne , Pierre Salles Jean , Valet Philippe , Tauber Maithe

Background: Prader–Willi syndrome (PWS) results from abnormalities in the genomic imprinting process leading to hypothalamic dysfunction with an alteration of GH secretion. PWS is associated with early morbid obesity and short stature which can be efficiently improved with GH treatment.Objective and hypotheses: Our aims were to highlight adipose tissue structural and functional impairments in young children with PWS and to study the effect of GH tre...

hrp0082p2-d1-259 | Adrenals & HP Axis | ESPE2014

Inadequate Cortisol Response to Tetracosactide (Synacthen®) Test in NCCAH Patients, an Exception to the Rule?

Stoupa Athanasia , Briceno Laura Gonzalez , Pinto Graziella , Samara-Boustani Dinane , Flechtner Isabelle , Thalassinos Caroline , Bidet Maud , Simon Albane , Morel Yves , Bellanne-Chantelot Christine , Touraine Philippe , Polak Michel

Background: Non-classical congenital adrenal hyperplasia (NCCAH) may present during childhood, adolescence or even adulthood with various degrees of hyperandrogenism. Diagnosis is established through tetracosactide (Synacthen®) test and genotyping. Cortisol insufficiency has rarely been described in NCCAH.Objective and hypotheses: To describe cortisol response to tetracosactide test in NCCAH patients.Method: Retrosp...

hrp0082p3-d3-690 | Bone (2) | ESPE2014

Prospective Evaluation of Bone Mineralization, PTH Regulation, and Metabolic Profile in Adult Patients with Hereditary Hypophosphatemic Rickets

Boros Emese , Rothenbuhler Anya , Haidar Hazar , Prie Dominique , Harvengt Pol , Vija Lavinia , Brailly-Tabard Sylvie , Chanson Philippe , Linglart Agnes , Kamenicky Peter

Background: Hereditary hypophosphatemic rickets (HHR) is a rare genetic disease characterized by renal phosphate wasting, caused by elevated circulating FGF23. Despite the current available treatment complications include short stature, hyperparathyroidism, pseudofractures, bone pain, bone demineralization and osteoporosis, nephrocalcinosis and enthesopathies. Elevated circulating FGF23 was recently involved in glucose metabolism and cardiovascular function.<p class="abste...