hrp0086fc8.3 | Growth: Clinical | ESPE2016

PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Wasserman Halley , Backeljauw Philippe , Dauber Andrew

Background: PAPP-A2 (pregnancy-associated plasma protein A2) deficiency, caused by homozygous mutations in the PAPP-A2 gene results in a novel syndrome of significant growth failure. PAPP-A2 cleaves IGF binding proteins 3 and 5, thereby freeing IGF-I from its ternary complex and allowing it to become biologically active. We recently reported the first two families with PAPP-A2 mutations. Response to recombinant human IGF-I (rhIGF-1) in these patients is unknown.<p class="a...

hrp0086fc9.1 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Next Generation Sequencing for the Diagnosis of Monogenic Diabetes in Switzerland

Klee Philippe , Dirlewanger Mirjam , Blouin Jean-Louis , Castellsague-Perolini Montserrat , Santoni Federico , Schwitzgebel Valerie

Background: Monogenic diabetes (MD) remains undiagnosed in more than 90% of the cases. However, precise, quick and cost-effective diagnosis is important to choose an adequate treatment and to avoid long-term complications.Objective and hypotheses: To develop and validate a diagnostic tool to improve diagnosis rate of MD in Switzerland, as well as to open new research directions.Method: Targeted next-generation sequencing (NGS) of 3...

hrp0086rfc14.3 | Growth : Mechanisms | ESPE2016

Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations

Salcedo Catalina Cabrera , Hwa Vivian , Tyzinski Leah , Andrew Melissa , Backeljauw Philippe , Dauber Andrew

Background: Familial isolated growth hormone deficiency (IGHD) type II is autosomal dominantly inherited and caused by splice-site mutations and nucleotide substitutions in the GH1 gene. The missense mutation R183H is a well-described genetic variant that causes familial IGHD type II. Individuals with this mutation have releasable GH stores, but GH secretion is severely reduced resulting in short stature.Objective and hypotheses: This study aimed to repo...

hrp0086p1-p191 | Diabetes P1 | ESPE2016

Insulin Pump Does Not Allow a Better Control than Injections in Childhood Type 1 Diabetes (T1d) in the ISIS-Diab Cohort

Fur Sophie Le , Castell Anne Laure , Lucchini Philippe , Bougneres Pierre , Network ISIS-Diab

Background: The use of insulin pumps is rapidly spreading within the paediatric T1D community. A few small studies have promoted pump usage, while large registries have shown almost no advantage of this treatment.Objectives: Compare the results of treatment with insulin pump (‘Pump’) with insulin injections (‘Inj’) in a large cohort of children with T1D in field conditions.Patients: We studied 3137 children of t...

hrp0086p1-p239 | Diabetes P1 | ESPE2016

Fetal Growth Restriction Due to Maternal Congenital Hyperinsulinism Associated with a Novel Variant in GLUD1 and Intrauterine Diazoxide Exposure

Dirlewanger Mirjam , Klee Philippe , Ranza Emmanuelle , Gastaldi Giacomo , Boulvain Michel , Schwitzgebel Valerie M

Background: Congenital hyperinsulinism (CHI) is a rare disease mostly due to loss-of-function mutations of the ABCC8 or KCNJ11 genes, encoding the two subunits of the KATP channel. Gain-of-function mutations in glutamate dehydrogenase 1, encoded by the GLUD1 gene, are the second most common cause of CHI.Objective and hypotheses: The majority of patients with a GLUD1 CHI respond to diazoxide, but little is kn...

hrp0086p1-p250 | Diabetes P1 | ESPE2016

Type 1 Diabetes (T1D) Management with Few Blood Glucose (BG) Measurements but Frequent Free Adjustment of Treatment with Cell Phones or E-mails

Bibal Cecile , Laure Castell Anne , Aboumrad Brigitte , Lucchini Philippe , Bougneres Pierre

Background: Many children with type 1 diabetes (T1D) are asked to measure blood glucose (BG) 4–6 times a day routinely to adjust insulin dosages. There is no evidence though that such high frequency is beneficial to HbA1C or glycemic profile, although this is often claimed.Objectives: We challenged ‘the more BG measurements, the better control’ dogma for alleviation of T1D burden in child life and evaluation of HbA1C.<p class="abstext"...

hrp0086p2-p278 | Diabetes P2 | ESPE2016

Childhood Type 1 Diabetes (T1D) Management with e-learning through Self-educational Tools

Bibal Cecile , Laure Castell Anne , Aboumrad Brigitte , Lucchini Philippe , Bougneres Pierre

Background: Children with type 1 diabetes (T1D) and their parents need personalized i) information about the disease and glucose homeostasis and ii) knowledge and guidelines about diet and insulin therapy.Objectives: To set a complete educational program that allows children with T1D to improve disease management and daily life.Methods: Education modules were written and trained with children and parents at outpatient visits. Each ...

hrp0086p1-p743 | Pituitary and Neuroendocrinology P1 | ESPE2016

Proton Therapy as a Promising Therapeutic Option for Children with Aggressive and Uncontrolled Pituitary Macro Adenoma: A Case Report

Petit Isabelle Oliver , Bertozzi Anne-Isabelle , Boetto Sergio , Sevely Annick , Tauber Maithe , Caron Philippe , Alapetite Claire

Background: Non functioning pituitary macro adenoma is rare during childhood. Therapeutic options are reduced to surgery and radiotherapy. Proton therapy is a particle therapy that uses a beam of protons to irradiate the tissue with the chief advantage that as a charged particle the dose is deposited over a narrow range and there is minimal exit dose.Objective and hypotheses: Proton therapy is largely used in France for paediatric craniopharyngiomas irra...

hrp0086p1-p751 | Pituitary and Neuroendocrinology P1 | ESPE2016

Transcriptional Basis of Idiopathic Central Hypogonadism in Isolated Congenital Cryptorchidism with Defective Mini-Puberty

Hadziselimovic Faruk , Gegenschatz Katharina , Verkauskas Gilvydas , Demougin Philippe , Stadler Michael , Bilius Vytautas , Malcius Dalius , Dasevicius Darius

Objective and hypotheses: The objective was to use whole-genome RNA profiling of testicular biopsies by DNA strand-specific RNA-sequencing to explore the causative role of isolated congenital cryptorchidism in azoospermia and/or infertility.Method: Fifteen cryptorchid patients, aged 7 months to 5 years, were enrolled in this study and underwent orchidopexy. During surgery, testicular tissue biopsies were collected and split in half for histological exami...

hrp0082fc8.5 | Fat Metabolism | ESPE2014

Putative Gain-of-Function in Rats Carrying the Ghsr Q343X Mutation

Zizzari Philippe , Chebani Yacine , Chettab Khadidja , Pastor Marie , Korostelev Marie , Epelbaum Jacques , Tolle Virginie , Pantel Jacques

Background: The deciphering of the physiological importance of the GH secretagogue receptor (Ghsr), a G protein-coupled receptor (GPCR) depicted as the sole receptor of the pleiotropic hormone ghrelin, was initially compromised by the modest phenotype observed in Ghsr−/− animals. This lack of a robust response to total loss of Ghsr may result from developmental compensatory signals. Still, the description of rare mutations in the GHSR p...