ESPE2016

10 September 2016

07:00-20:30Registration opens
07:45-08:15Light breakfast served for Working Group Attendees
Exhibition area
08:15-10:45ESPE Disorders of Sex Development Working Group (DSD)
Chair(s):Charmian Quigley (Indianapolis, USA) & Christa Flück (Bern, Switzerland)
Hormones, brain and identity: Issues in DSD
The dSd Working Group welcomes the new Gender dysphoria Working
Amphithéâtre Bordeaux L3
08:15WG1.1Biological determinants of gender identity
Stephen Rosenthal (University of California San Francisco (UCSF), San Francisco, USA)
08:45WG1.2The brain as a target for sex steroids: recent trends in endocrine neuroimaging
Sven Müller (Ghent, Belgium)
09:15WG1.3Gender dysphoria and DSD
Peggy Cohen-Kettenis (Amsterdam, The Netherlands)
09:45WG1.4Health care situation of persons with DSD: first results from DSD-LIFE
Birgit Köhler (Berlin, Germany)
10:00WG1.5DSD nomenclature, a report of the patients' views in the DSD-LIFE study
Ute Thyen (Lübeck, Germany)
10:15WG1.6Fertility and fecundity, reports from the DSD-LIFE study
Anna Nordenström (Karolinska University Hospital, Stockholm, Sweden)
10:30DSD WG Buisness meeting
08:15-10:45ESPE Obesity Working Group (OWG)
Chair(s):Jesús Argente (Madrid, Spain) & Julie Chowen (Madrid, Spain)
Clinical and neuroendocrinological advances in obesity
252 AB L2
08:15WG2.1Welcome and introduction
Jesús Argente (Madrid, Spain)
08:20WG2.2Bariatric surgery in obese adolescents
Jovanna Dahlgren (Sweden)
08:50WG2.3Clinical approach to severe early onset childhood obesity
Gabriel Martos-Moreno (Madrid, Spain)
09:20WG2.4Tanycyte transport of leptin into the hypothalamus: implications in leptin resistance
Vincent Prevot (University of Lille, Lille, France)
09:50WG2.5Palatability can drive feeding independent of AgRP neurons
Serge Luguet (Paris, France)
10:20Obesity WG Business meeting
08:15-10:45ESPE Turner Syndrome Working Group (TS)
Chair(s):08:15 - 09:15: Malgorzata Wasniewska (Messina, Italy) & Aneta Gawlik (Katowice, Poland), 09:30 - 10:30: Laura Mazzanti (Bologna, Italy) & Malcolm Donaldson (Glasgow, UK)
Understanding TS beyond height
Salle Maillot L2
08:15WG3.1Spontaneous fertility and pregnancy outcomes in TS
Sophie Christin-Maitre (Paris, France)
08:45WG3.2Skeletal disproportion in Turner Syndrome
Jarod Wong (Glasgow, UK)
09:30WG3.3Patient coaching and education in TS: a Dutch approach
Helen Mijnarends (Maastricht, The Netherlands)
10:00WG3.4Face perception in TS
Vardit Gepstein (Haifa, Israel)
10:30WG3.5Estradiol supplementation in TS : an update
Theo Sas (Rotterdam, The Netherlands)
08:15-10:45ESPE Bone and Growth Plate Working Group (BGP)
Chair(s):08:15 - 09:15: Ola Nilsson (Gothenburg, Sweden) & Ciara McDonnell (Dublin, Ireland) 09:15 - 10:45 Serup Turan (Istanbul, Turkley) & Eckhard Schönau (Cologne, Germany)
Disorders of growth, bone and mineral disorders – novel insights and future directions
Amphithéâtre Bleu L2
08:15WG4.1Genetics of overgrowth syndromes
Kate Tatton-Brown (London, UK)
08:45WG4.2Hypercalcaemic disorders in children
Raj Thakker (Oxford, United Kingdom)
09:15WG4.3Bisphosphonate treatment in rare bone diseases
Nick Bishop (Sheffield, UK)
09:45WG4.4A clinical and genetic approach to diagnosis and treatment of fractures in infancy
Oliver Semler (Cologne, Germany)
10:15WG4.5FGF23, Klotho and PTH in the regulation of mineral homeostasis
Thomas Carpenter (New Haven, USA)
08:15-10:45ESPE Diabetes Technology and Therapeutics Working Group
Chair(s):Moshe Phillip (Petah Tikva, Israel) & Thomas Danne (Hannover, Germany)
Challenges in Diabetes
Grand Amphithéâtre L2
08:15WG5.1Introduction
Moshe Phillip (Israel)
08:20WG5.2Center of Excellence/Sweet project
Thomas Danne (Hannover, Germany)
08:45WG5.3Use and discontinuation of CSII and CGM treatment in the paediatric age group – rates and causes
Shlomit Shalitin (Petah Tikva, Israel)
09:10WG5.4Debate - PRO: Use of Dual Hormone (glucagon) v. single hormone (insulin) in the treatment of diabetes with close-loop system
Revital Nimri (Petah Tikva, Israel)
09:10WG5.5Debate - CON: Use of Dual Hormone (glucagon) v. single hormone (insulin) in the treatment of diabetes with close-loop system
Tadej Battelino (University of Ljublijana, Ljubljana, Slovenia)
09:50WG5.6Prescribing software for the treatment of diabetes
Moshe Phillip (Israel)
10:15WG5.7Interaction between humans and technology in the treatment of diabetes
Katharine Barnard (Southampton, UK)
08:15-10:45ESPE Paediatric and Adolescent Gynaecology Working Group (PAG)
Chair(s):Part 1: Feyza Darendeliler (Istanbul, Turkey) & Anders Juul (Copenhagen, Denmark) Part 2: Anne-Sophie Parent (Liège, Belgium) & Michel Polak (Paris, France)
Functional hypothalamic amenorrhea and breast disorders
342 AB L3
08:15WG6.1Stress and amenorrhea
Flora Bacopoulou (Athens, Greece)
08:45WG6.2Anorexia & amenorrhea
Madhusmita Misra (Boston, USA)
09:15WG6.3Physical exercise and amenorrhea
Neoklis Georgopoulos (Patras, Greece)
09:45WG6.4Breast cancer risk in adolescent girls
Christine Rousset-Jablonski (Lyon, France)
10:15WG6.5Benign breast conditions in adolescent girls
Philippe Touraine (Pitié Salpêtrière Hospital, Paris, France)
11:00-11:15Opening Ceremony
Welcome and opening speeches: Jean-Claude Carel, Agnès Linglart & Peter Clayton
Grand Amphithéâtre L2
11:15-11:45Plenary 1
Chair(s):Michel Polak (Paris, France) & Stefano Cianfarani (Rome, Italy)
Grand Amphithéâtre L2
11:15PL1Environmental chemicals, brain development and human intelligence
Barbara Demeneix (Paris, France)
11:45-12:15ESPE awards
Chair(s):Anita Hokken-Koelega (Rotterdam, The Netherlands)
ESPE Young Investigator Award 1 & 2, ESPE Research Award, IFCAH-ESPE award
Grand Amphithéâtre L2
12:15-12:45Plenary 2
Chair(s):George P Chrousos (Athens, Greece) & Constantine Stratakis (Bethesda, USA)
Grand Amphithéâtre L2
12:15PL2Recent advances on the genetics of adrenal hyperfunction and tumors
Jerome Bertherat (Paris Descartes University, France)
12:45-14:30Lunch, posters and exhibition
Exhibition area
13:15-14:15Industry Sponsored Satellite Symposia
Grand Amphithéâtre L2
14:30-16:00Symposium 1: Innovative therapies in bone and mineral metabolism
Chair(s):Agnès Linglart (Paris, France) & Wolfgang Högler (Birmingham, UK)
Grand Amphithéâtre L2
14:30S1.1Anti FGF23 in X-linked hypophosphatemia
Thomas Carpenter (New Haven, USA)
15:00S1.2Denosumab as an alternative to bisphosphonates in osteogenesis
Eckhard Schönau (Cologne, Germany)
15:30S1.3Modulating FgFr3 signalling to treat achondroplasia
Laurance Legeai-Mallet (Paris, France)
14:30-16:00Symposium 2: Genetics and epigenetics of thyroid dysgenesis
Chair(s):Heiko Krude (Berlin, Germany) & Juliane Léger (Paris, France)
Amphithéâtre Bordeaux L3
14:30S2.1Early thyroid development
Heiko Krude (Berlin, Germany)
15:00S2.2Random monoallelic expression in thyroid tissue: implications for development, immune disorders and neoplasia
Johnny Deladoey (Montreal, Canada)
15:30S2.3Genetics of thyroid dysgenesis and associated malformations
Michel Polak (Paris, France)
14:30-16:00Symposium 3: Optimizing nocturnal diabetes control - Joint ISPAD-ESPE Session
Chair(s):Zdeněk Šumník (Prague, Czech Republic) & Ragnar H˚anas (Uddevalla, Sweden)
Amphithéâtre Bleu L2
14:30S3.1Sleep and glycaemic control in children with type 1 diabetes
Karine Spiegel (Lyon, France)
15:00S3.2Therapeutic implications
Thomas Danne (Hannover, Germany)
15:30S3.3New insulins, new technology: but where is the evidence?
Roman Hovorka (Cambridge, UK)
14:30-16:00Symposium 4: New avenues in paediatric autoimmune disease
Chair(s):Reiko Horikawo (Tokyo, Japan) & Cheri Deal (Montréal, Canada)
342 AB L3
14:30S4.1Activating mutations in STAT3 leading to early-onset multi-organ autoimmune disease
Megan Cooper (St. Louis, USA)
15:00S4.2The promise of low-dose interleukin-2 therapy for autoimmune and inflammatory diseases
David Klatzmann (Paris, France)
15:30S4.3Beta cells in type 1 diabetes: insights from the nPOD study
Alberto Pugliese (Miami, USA)
14:30-16:00Special Session 1: Online learning in education and training: Future prospects and ESPE e-Learning activities
Chair(s):Annemieke Boot (Groningen, The Netherlands) & Amit Pandey (Bern, Switzerland)
Salle Maillot L2
14:30SS1.1Introduction
14:35SS1.2Application of online learning in assessment of competencies of fellows in paediatric endocrinology
14:50SS1.3The use of educational technology and open online courses in medical teaching
Peter Jong (Leiden, The Netherlands)
15:15SS1.4Continuing Medical Education (CME) and Continuing Professional Development (CPD) in the past and future
Vassilios Papalois (Brussels, Belgium)
15:40SS1.5Objectives and outcome of ESPE Schools
Malcolm Donaldson (Glasgow, United Kingdom)
15:55SS1.6Discussions and Q & A on ESPE E-learning activities
16:00-16:15Refreshment break, posters and exhibition
Exhibition area
16:15-17:15Yearbook of Paediatric Endocrinology - YB1
Chair(s):Francesco Chiarelli (Chieti, Italy)
Grand Amphithéâtre L2
YB1.1Adrenals
Evangelia Charmandari (Athens, Greece)
YB1.2Evidence based medicine in paediatric endocrinology
Chris Kelnar (Edinburgh, UK)
YB1.3Global health for the paediatric endocrinologist
Jean-Pierre Chanoine (Vancouver, Canada)
YB1.4Type 2 diabetes, metabolic syndrome and lipids
Orit Pinhas-Hamiel (Tel Aviv, Israel)
YB1.5The year in science & medicine
Ze'ev Hochberg (Haifa, Isreal))
16:15-17:15Meet the Expert 1
252 AB L2
16:15MTE1.1Clinical management of transgender youth
Olle Söder (Stockholm, Sweden)
16:15-17:15Meet the Expert 2
342 AB L3
16:15MTE2.1Hypertension in children
Jörg Dötsch (Köln, Germany)
16:15-17:15Meet the Expert 3
Salle Maillot L2
16:15MTE3.1Glucocorticoid induced fractures
Outi Mäkitie (Helsinki, Finland)
16:15-17:15Meet the Expert 4
Amphithéâtre Bordeaux L3
16:15MTE4.1Neonatal Graves' disease
Juliane Léger (Paris, France)
17:30-19:00Industry Sponsored Satellite Symposia
Grand Amphithéâtre L2, Amphithéâtre Bleu L2, Salle Maillot L2
17:45-19:15Gender Dysphoria meeting
224 &225M
19:00-20:30Informal ESPE Networking Event
Exhibition area

11 September 2016

07:00-19:30Registration opens
08:00-09:00Meet the Expert 5
342 AB L2
08:00MTE5.1Hypercholesterolaemia in children
Albert Wiegman (Amsterdam, The Netherlands)
08:00-09:00Meet the Expert 6
Salle Maillot L2
08:00MTE6.1Prolactinomas in adolescence
Philippe Chanson (Paris, France)
08:00-09:00Meet the Expert 7
Amphithéâtre Bordeaux L3
08:00MTE7.1Neonatal hypocalcaemia
Serap Turan (Istanbul, Turkey)
08:00-09:00Meet the Expert 8
252 AB L2
08:00MTE8.1Steroid measurements in paediatric endcrinology
Yves Morel (Lyon, France)
08:00-09:00Meet the Expert 2 (repeated)
Amphithéâtre Bleu L2
08:00MTE2.2Hypertension in children
Jörg Dötsch (Köln, Germany)
09:15-10:15Yearbook of Paediatric Endocrinology - YB2
Chair(s):Anders Juul (Copenhagen, Denmark)
Grand Amphithéâtre L2
YB2.1Thyroid
Gabor Szinnai (Basel, Switzerland)
YB2.2Oncology and chronic Disease
Carla Bizzarri (Rome, Italy)
YB2.3Reproductive endocrinology
Olle Söder (Stockholm, Sweden)
YB2.4Bone, growth plate and mineral metabolism
Outi Mäkitie (Helsinki, Finland)
YB2.5Editor's Choice
Ken Ong (Cambridge, UK)
09:15-10:45RFC & FC 1 - Adrenals
Chair(s):Lou Metherel (London, UK) & Ze'ev Hochberg (Haifa, Israel)
Amphithéâtre Bleu L2
RFC1.1Tracing the Glucocorticoid Receptor evolutionary pedigree: insights from a comprehensive phylogenetic analysis of the full NR super-family
Dimitrios Vlachakis (Athens, Greece)
RFC1.2Glucocorticoid deficiency due to disruption of mitochondrial steroidogenesis leads to dysregulation of antioxidant pathways and nucleotide biosynthesis
Meltem Weger (Birmingham, UK)
RFC1.3Impaired cardiac function in a mouse model of Generalized Glucocorticoid Resistance
Evangelia Charmandari (Athens, Greece)
RFC1.4Mutations of ABCD1 in 16 Vietnamese Patients with X-linked Adrenoleukodystrophy
Dung Vu (Hanoi, Vietnam)
RFC1.5A novel animal model to study 21-hydroxylase deficiency in vivo
Andreas Zaucker (Birmingham, UK)
RFC1.6Paediatric patients with congenital adrenal hyperplasia have unfavorable changes in their cardiovascular risk profile
Christiaan Mooij (Nijmegen, The Netherlands)
RFC1.7The recovery of adrenal function in children with chronic asthma assessed by Low Dose Short Synacthen Test (LDSST)
Arundoss Gangadharan (Liverpool, UK)
RFC1.8Adrenal 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.
Michel Polak (Paris, France)
09:45FC1.1DNA methylation of HSD3B2, NUR77 and RARβ promoter genes is not involved in functional differentiation of human androgen-producing adrenocortical cells
Maria Burgos (Ciudad, Argentina)
09:55FC1.2Transcriptomic Analysis in Healthy Subjects with Differences in Tissue Sensitivity to Glucocorticoids Identifies Novel Disease-associated Genes
Nicolas Nicolaides (Athens, Greece)
10:05FC1.3Steroidogenesis in the human fetal adrenals at the end of the first trimester
Iuliia Savchuk (Stockholm)
10:15FC1.4Identification of novel central nervous system imaging biomarkers associated with cognitive abnormalities in patients with congenital adrenal hyperplasia
Emma Webb (Jenny Lind Children’s Hospital, Norwich, UK)
10:25FC1.5AAV gene therapy of 21-hydroxylase deficiency (21OHD) in Cyp21-/- mice
Pierre Bougneres (French Institute of Health and Medical Research, Bicêtre, France)
10:35FC1.6A novel syndrome of IUGR, congenital adrenal and gonadal insufficiency, severe infections, thrombocytopenia and monosomy 7 is caused by SAMD9 mutations
Federica Buonocore (London, UK)
09:15-10:45RFC & FC 2 - Bone & Mineral Metabolism
Chair(s):Oliver Semler (Cologne, Germany) & Ola Nilsson (Stockholm, Sweden)
Amphithéâtre Bordeaux L3
RFC2.125-OH-Vitamin D status in a paediatric population of subjects affected by Prader-Willi Syndrome compared to matched obese controls
Danilo Fintini (Rome, Italy)
RFC2.2Duration of exclusive breastfeeding: ‘Game changer’ in a sex-specific association between cord vitamin D status and infant linear growth.
Anna Christensen (Odense, Denmark)
RFC2.3Cord vitamin D is inversely associated with systolic and diastolic blood pressure in 3-year-old girls, but not in boys.
Søs Larsen (Odense C, Denmark)
RFC2.4Results of orthopaedic surgery in children with X-linked hypophosphatemic rickets (XLHR)
Dr. Anya Rothenbuhler (Paris, France)
RFC2.5Growth Patterns And Fractures In Boys With Duchenne Muscular Dystrophy: Insights From Over 800 Boys In The UK North Star Cohort
Sze Choong Wong (University of Glasgow, Glasgow, UK)
RFC2.6Combining COLD and MAMA-PCR real time taqman tecniques to detect and quantify the R201 GNAS mutation causing McCune-Albright Syndrome
Luisa Sanctis (Torino, Italy)
RFC2.7Effect of paternal loss-of-function mutations of GNAS on growth during the childhood: a role for XL.
Lea Tran (Caen, France)
RFC2.8Final heights and BMI in patients affected with different types of pseudohypoparathyroidism
Patrick Hanna (Paris, France)
09:45FC2.1Characterization of GNAS miRNAs targets: trying to better understand the pathophysiology of pseudohypoparathyroidism 1B (PHP1B)
Patrick Hanna (Paris, France)
09:55FC2.2From Pseudohypoparathyroidism to inactivating PTH/PTHrP Signaling Disorder (iPPSD), a novel classification proposed by the European EuroPHP-network
Susanne Thiele-Schmitz (Lübeck, Germany)
10:05FC2.3The impact of intragastric balloon placement suppported by a lifestyle intervention programme on cortical and trabecular microstructure and strength in severely obese adolescents
Pooja Sachdev (Nottingham University Hospitals NHS Trust, Nottingham , UK)
10:15FC2.4In vitro evidence that growth plate chondrocytes differentiate into perichondrial cells.
Anenisia Andrade (Stockholm, Sweden)
10:25FC2.5Determination of the Minimal Clinically Important Difference in the Six-Minute Walk Test for Patients with Hypophosphatasia
Ioannis Tomazos (New Haven, USA)
10:35FC2.6Effect of KRN23, a Fully Human Anti-FGF23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (XLH): 40-week Interim Results from a Randomized, Open-label Phase 2 Study
Agnès Linglart, MD, PhD (Paris, France)
09:15-10:45RFC & FC 3 - Pituitary
Chair(s):Roland Pfäffle (Leipzig, Germany) & Rachel Reynaud (Marseille, France)
Salle Maillot L2
RFC3.1Endocrinopathy in Childhood Intracranial Germ Cell Tumours is Predicted by Disease Location not Treatment: 30 Year Experience From a Single Tertiary Centre
Joana Serra-Caetano (London, UK)
RFC3.2Subfertility After Chemotherapy in PNET tumours: 34 Year Experience From a Single Centre (1980-2013)
Joana Serra-Caetano (London, UK)
RFC3.3Unraveling the Link Between Optic Nerve Hypoplasia and Pituitary Hormone Dysfunction
Naseem Alyahyawi (Vancouver, Canada)
RFC3.4Children and adolescents with severe TBI can develop late pituitary dysfunction independently of the results of the first pituitary evaluation.
Yamina Dassa (Paris, France)
RFC3.5Prospective dynamic evaluation of hypothalamo-pituitary function in 30 cases of paediatric craniopharyngioma, by hypothalamic injury and treatment; a single centre series.
Chiara Guzzetti (London, UK)
RFC3.6Priority target conditions of growth-monitoring in children: toward consensus
Pauline Scherdel (Paris, France)
RFC3.7Pituitary structural abnormalities in idiopathic isolated growth hormone deficiency
Luís Cardoso (Coimbra, Portugal)
RFC3.8Anthropometric and endocrine features in children and adolescents with Type 1 Narcolepsy.
Antonio Balsamo (Bologna, Italy)
09:45FC3.1The MAPK effector BRAF is essential for the integrity of hypothalamic-pituitary development and deregulation of this pathway causes congenital hypopituitarism.
Carles Gaston-Massuet (University of London , London, UK)
09:55FC3.2Spectrum of LHX4 mutations in a cohort of 510 patients with hypopituitarism
Enzo Cohen (Paris, France)
10:05FC3.3Contribution of GLI2 mutations to pituitary deficits and delineation of the associated phenotypic spectrum
Enzo Cohen (Paris, France)
10:15FC3.4A novel mutation in eukaryotic translation initiation factor 2 subunit 3 (EIF2S3) is associated with X-linked hypopituitarism and glucose dysregulation.
Louise. Gregory (London, UK)
10:25FC3.5Septo-optic dysplasia spectrum: pubertal features of a large cohort of children and adolescents with septo-optic dysplasia, congenital hypopituitarism and optic nerve hypoplasia from a single centre
Manuela Cerbone (London, UK)
10:35FC3.6Pegvisomant is more effective in stunting growth than somatostatin analogs in childhood acromegaly/gigantism.
Cecile Thomas-Teinturier (Bicetre, France)
09:15-10:45RFC & FC 4 - Pathophysiology of Obesity
Chair(s):Wieland Kiess (Leipzig, Germany) & Julie Chowen (Madrid, Spain)
252 AB L2
RFC4.2Adipocytokines delay pubertal maturation of human Sertoli cells
Isabel Wagner (Stockholm, Sweden)
RFC4.3Early growth patterns are associated with alterations in adipocytokine levels and fat distribution measured by DXA in 982 children/adolescents.
Jeanette Tinggaard (Copenhagen, Denmark)
RFC4.4Metabolic syndrome markers correlate with gut microbiome activity in children born very preterm
Valentina Chiavaroli (Auckland, New Zealand)
RFC4.5Steroid Metabolomic Signature of Liver Disease in Childhood Obesity
Aneta Gawlik (Katowice, Poland)
RFC4.6Adipose tissue - a source of hyperandrogenism in obese females?
Isabel Wagner (Stockholm, Sweden)
RFC4.7Prevalence and characterization of retinal alterations in a cohort of overweight and obese children
Stefania Pedicelli (Rome, Italy)
09:45FC4.1Contribution of rare CNVs and point mutations to the etiology of severe early-onset obesity
Clara Serra-Juhé (Barcelona)
09:55FC4.2Immune-fat-bone axis in obese children: the role of LIGHT
Giacomina Brunetti (Bari, Italy)
10:05FC4.3Expression of type 1 insulin-like growth factor receptor (IGF-1R) in liver of obese children with non-alcoholic fatty liver disease (NAFLD)
Valentina Pampanini (Rome, Italy)
10:15FC4.4The role of apoptotic marker Apo-1/Fas in the metabolism and endothelial function of healthy children
Maria Maganna (Sparta, Greece)
10:25FC4.5Novel association between the non-synonymous A803G polymorphism of the N-acetyltransferase 2 gene and impaired glucose homeostasis in obese children and adolescents.
Pierluigi Marzuillo (Naples, Italy)
10:35FC4.6The rise and fall of the Swedish childhood obesity epidemic – The BEST cohort
Maria Bygdell (Gothenburg, Sweden)
09:15-10:45RFC & FC 5 - Management of Disorders of Insulin Secretion
Chair(s):Carlo Acerini (Cambridge, UK) & Nadia Tubiana-Rufi (Paris, France)
342 AB L3
RFC5.1Adiponectin and leptin in children with type 1 diabetes for 3-5 years with or without residual β cell function.
Niels Birkebaek (Aarhus, Denmark)
RFC5.2Limits of agreement between HbA1c levels measured in different laboratories following the introduction of the International Federation of Clinical Chemistry and Laboratory Medicine standardised values
Joanne Blair (Liverpool, UK)
RFC5.3Sexual lifestyle among young adults with type 1 diabetes
Orit Pinhas-Hamiel (Tel-Aviv, Israel)
RFC5.4"Transient" neonatal diabetes in adulthood: Metabolic outcomes
Kanetee Busiah (Paris, France)
RFC5.5The efficacy of insulin degludec in children and adolescents with type 1 diabetes.
Lorenzo Iughetti (Modena, Italy)
RFC5.6Clinical management of the Mitchell-Riley syndrome due to RFX6 gene mutations: aggressive support results in improved outcome
Amélie Poidvin (Paris, France)
RFC5.7Early successful hematopoietic cell transplantation (HSCT) in a boy with IPEX syndrome caused by novel c.721T>C FOXP3 mutation
Barbora Obermannova (Prague, Czech Republic)
09:45FC5.1The anti-diabetic drug, metformin, suppresses adipogenesis through both AMP-activated protein kinase (AMPK)-dependent and AMPK-independent mechanisms
Suet Ching Chen, MD (Glasgow, UK)
09:55FC5.2Diabetes and insulin injection modalities: Effects on hepatic expression and activity of 11β-hydroxysteroid dehydrogenase type 1 in juvenile diabetic rats.
Pascal Barat (Bordeaux, France)
10:05FC5.3Glibentek, a new suspension of glibenclamide for patients with neonatal diabetes, is as effective and more convenient than crushed tablets
Jacques Beltrand (Paris, France))
10:15FC5.4Persistent beneficial metabolic effect after five years in a cohort of 28 subjects with neonatal diabetes owing to potassium channel mutation and transferred from insulin to sulfonylureas
Jacques Beltrand (Paris, France))
10:25FC5.5DPP-4 inhibitor is an alternative effective treatment in a common cause of anti-GAD negative "type 1 Diabetes" - A founder CISD2 mutation
Ulla Abdulhag (Jerusalem, Israel)
10:35FC5.6Impact of continuous subcutaneous insulin infusion versus multiple daily injections on bone health in children and adolescents with type 1 diabetes
Maria Faienza (Bari, Italy)
10:45-11:15Refreshment break, posters and exhibition
Exhibition area
11:15-11:30ESPE Awards
Chair(s):Mehul Dattani (London, UK)
Henning Andersen Prizes (best basic and clinical)
Grand Amphithéâtre L2
11:30-12:00Plenary 3
Chair(s):Faisal Ahmed (Glasgow, UK) & Agnès Linglart (Paris, France)
Grand Amphithéâtre L2
11:30PL3Calcium-sensing receptor signalling in physiology and diseases
Raj Thakker (Oxford, United Kingdom)
12:00-12:30ESPE Awards
Chair(s):Peter Clayton (Manchester, UK)
Andrea Prader Prize
Grand Amphithéâtre L2
12:30-13:00Plenary 4
Chair(s):Anita Hokken-Koelega (Rotterdam Netherlands) & Irène Netchine (Paris, France)
Grand Amphithéâtre L2
12:30PL4Genomic imprinting and evolution
Robert Feil (Montpellier, France)
13:00-14:30Lunch, posters and exhibition
Exhibition area
13:15-14:15Industry Sponsored Satellite Symposia
Salle Maillot L2
14:15-16:30ESPE Paediatric Endocrine Nurse Specialists and Allied Health Professionals Working Group (PENS)
Chair(s):Jan Foote (De Moines, USA) & Christine Derycke (Brussels, Belgium)
Beyond the patient, Au-Dela du Patient
342 AB L3
14:15WG7.1Welcome
14:25WG7.2The activities of AdrenalNET and the paediatric emergency card for Europe
Johan Beun ('t Harde, The Netherlands)
15:15WG7.3Empowering nurses as scholars
Terri Lipman (Philadelphia, USA)
16:00WG7.4Poster review
16:15WG7.5Questions and discussion
14:30-15:30Novel Advances in Paediatric Endocrinology: Non-invasive prenatal diagnosis
Chair(s):Outi Mäkitie (Helsinki, Finland) & Jesús Argente (Madrid, Spain)
252 AB L2
14:30NA1.1Non invasive prenatal diagnosis in paediatric endocrinology
Lyn Chitty (London, UK)
15:00NA1.2Intrauterine imaging strategies for bone disease
Yasemin Alanay (Istanbul, Turkey)
14:30-16:00Symposium 5: Mitochondrial dysfunction and endoplasmic reticulum stress in endocrine diseases
Chair(s):David Dunger (Cambridge, UK) & Yves Morel (Lyon, France)
Salle Maillot L2
14:30S5.1Endoplasmic reticulum stress and diabetes
Fumihiko Urano (St Louis, USA)
15:15S5.3Activation of HSP 72: a therapeutic target for diseases related to both ER stress and mitochondrial dysfunction
Mark Febbraio (Monash University, Melbourne, Australia)
14:30-16:00Symposium 6: Prevention of childhood obesity
Chair(s):Jan Lebl (Prague, Czech Republic) & Gary Butler (UK)
Grand Amphithéâtre L2
14:30S6.1Long term consequences of childhood obesity
Paul Franks (Lund, Sweden)
15:00S6.2Early childhood life style intervention and obesity outcome
Claude Marcus (Solna, Sweden)
15:30S6.3What do we need and how are we doing? A European perspective
Johannes Brug (Amsterdam, The Netherlands)
14:30-16:00Symposium 7: Overgrowth disorders
Chair(s):Mohammad Maghnie (Genoa, Italy) & Yves Le Bouc (Paris, France)
Amphithéâtre Bleu L2
14:30S7.1Clinical management of overgrowth disorders
Trevor Cole (Birmingham, UK)
15:00S7.2NGS in identifiying the molecular basis of overgrowth syndromes
Robert Semple (University of Edinburgh, Edinburgh, UK)
15:30S7.3The role of GPR101 in human growth
Constantine Stratakis (Greece)
14:30-16:00Controversies - Challenges in the Management of DSD
Chair(s):Nils Krone (Sheffield, UK) & Laura Audí (Barcelona, Spain)
Amphithéâtre Bordeaux L3
14:35CON1.1Case presentation of a difficult case
Martine Cools (Ghent, Belgium)
14:45CON1.2Surgical management of DSD - new insights
15:15CON1.3Psychological challenges
Franco D'Alberton (Bologna, Italy)
15:25CON1.4An ethicist's viewpoint
Claudia Wiesemann (Göttingen, Germany)
15:35Panel Discussion
16:00-16:30Refreshment break, posters and exhibition
Exhibition area
16:30-18:00Industry Sponsored Satellite Symposia
Grand Amphithéâtre L2, Amphithéâtre Bleu L2, Salle Maillot L2
18:15-19:30ESPE Annual Business Meeting
Salle Maillot

12 September 2016

07:00-17:45Registration opens
08:00-09:00Yearbook of Paediatric Endocrinology - YB3
Chair(s):Wieland Kiess (Leipzig, Germany)
Grand Amphithéâtre L2
YB3.1Pituitary and neuroendocrinology
Nicolas de Roux (Paris, France)
YB3.2Growth and growth factors
Stefano Cianfarani (University of Rome Tor Vergata, Rome, Italy)
YB3.3Antenatal and neonatal endocrinology
Khalid Hussain (Sidra Medicine, Doha, Qatar)
YB3.4Obesity and weight regulation
Professor Martin Wabitsch (University of Ulm, Germany)
YB3.5Type 1 diabetes
Wieland Kiess (Hospital for Children and Adolescence, University of Leipzig, Leipzig, Germany)
08:00-09:00Meet the Expert 1 (repeated)
Amphithéâtre Bordeaux L3
08:00MTE1.2Clinical management of transgender youth
Olle Söder (Stockholm, Sweden)
08:00-09:00Meet the Expert 3 (repeated)
Salle Maillot L2
08:00MTE3.2Glucocorticoid induced fractures
Outi Mäkitie (Helsinki, Finland)
08:00-09:00Meet the Expert 4 (repeated)
Amphithéâtre Bleu L2
08:00MTE4.2Neonatal Graves' disease
Juliane Léger (Paris, France)
08:00-09:00Meet the Expert 5 (repeated)
252AB L2
08:00MTE5.2Hypercholesterolemia in children
Albert Wiegman (Amsterdam, The Netherlands)
08:00-10:00Special Session 2: GPED activities
Chair(s):Asma Deeb (Abu Dhabi, UAE) & Ze'ev Hochberg (Haifa, Israel)
Improving health through growth monitoring in low-middle income countries
342 AB
08:00SS2.1Growth monitoring for improved health
Kerstin Albertsson-Wikland (Gothenburg, Sweden)
08:20SS2.2Nationwide implementation of the WHO growth charts in Canada
Jean-Pierre Chanoine (Vancouver, Canada)
08:40SS2.3Tomorrow: automated growth monitoring goes worldwide
Leo Dunkel (London, UK)
09:05SS2.4Kenyan experience of online monitoring and referral network
Thomas Ngwiri (Nairobi, Kenya)
09:15SS2.5The challenge of implementing growth measurements and growth charts in resource limited settings
Joel Dipesalema (Gaborone, Botswana)
09:30SS2.6Growth monitoring in India: current status and challenges
Ganesh Jevalikar (Mumbai, India)
09:45SS2.7General discussion
09:15-10:15Novel Advances in Paediatric Endocrinology 2: Non-coding RNA in paediatric endocrinology
Chair(s):Nicolas de Roux (Paris, France) & Luis Castano (Bilbao, Spain)
Grand Amphithéâtre L2
09:15NA2.1Decoding obesity - control of metabolism by the noncoding transcriptome
Jan-Wilhelm Kornfeld (Cologne, Germany)
09:45NA2.2Imprinted small non-coding RNA genes and neonatal metabolic adaptation
Jérome Cavaillé (Toulouse, France)
09:15-10:45RFC & FC 6 - Syndromes: Mechanisms and Management
Chair(s):Feyza Darendelier (Istanbul, Turkey) & Rasa Verkauskiene (Kaunas, Lithuania)
Amphithéâtre Bleu L2
RFC6.2RAB3IP and DGCR8 as a potentially pathogenic novel candidate gene involving in growth disorders
Thais Homma (Sao Paulo, Brazil)
RFC6.3Effect of Very Early Growth Hormone (GH) Treatment on Long-term Growth in Girls with Turner Syndrome (TS): A Multicenter, Open-Label, Extension Study
Hiren Patel (Indiana, USA)
RFC6.4Growth hormone (GH) treatment in skeletal dysplasias – Short-term results in prepubertal children reported in KIGS
Lars Hagenäs (Stockholm, Sweden)
RFC6.5Abnormal Videofluoroscopic Swallow Studies (VFSS) in Infants with Prader-Willi Syndrome Indicate a High Rate of Silent Aspiration
Parisa Salehi (Seattle, USA)
RFC6.6Growth Hormone (GH) Deficiency Type II: Clinical and Molecular Evidence of Impaired Regulated GH Secretion Due to an Gln181Arg GH-1 Gene Mutation
Maria Consolata Miletta (New Haven, USA)
RFC6.7Characteristics of responders and poor-responders to Increlex® therapy – data from children enrolled in the European Increlex® Growth Forum Database (EU-IGFD)
Peter Bang (Linköping, Sweden)
RFC6.8The actual incidence of Small for Gestational Age (SGA) newborns and their catch-up growth is dramatically lower than previously considered.
Eran Lavi (Jerusalem, Israel)
09:45FC6.1Ghrelin-reactive autoantibodies are elevated in children with Prader-Willi Syndrome compared to unaffected sibling controls
Gabrielle Crisp (Brisbane, Australia)
09:55FC6.2Whole exome sequencing identifies EPHB4 and PIk3R6 as causes of generalized lymphatic anomaly
Dong Li (Philadelphia, USA)
10:05FC6.3Oxytocin improves social and food-related behavior in young children with Prader-Willi Syndrome: A randomized, double-blind, controlled crossover trial
Renske Kuppens (Rotterdam, The Netherlands)
10:15FC6.4Chromosome 14 imprinted region DLK1/GTL2 disruption: an alternative molecular etiology for Silver-Russell Syndrome
Sophie Geoffron (Paris, France)
10:25FC6.5Pathogenic copy number variants are frequently identified in children with short stature of unknown etiology
Thais Homma (Sao Paulo, Brazil)
10:35FC6.6Social cognition skills and face perception in Turner syndrome (TS)
Vardit Gepstein (Haifa, Israel)
09:15-10:45RFC & FC 7 - Gonads & DSD
Chair(s):Anna Nordenstrom (Stockholm, Sweden) & Berenice Mendonca (São Paolo, Brasil)
Amphithéâtre Bordeaux L3
RFC7.1Tissue engineered collagen based tubular scaffolds for urethral regeneration. A novel technology for the surgical treatment of VSD (Variation of Sex Development) patients with severe hypospadias.
Kalitha Pinnagoda (Lausanne, Switzerland)
RFC7.2Reference values for external genitalia size and steroid hormone levels in female neonates.
Sarah Castets (Lyon, France)
RFC7.3Harmonisation of Serum Dihydrotestosterone Analysis: Establishment of an External Quality Assurance Program
Stefan Wudy (Justus-Liebig-Universität Gießen, Giessen, Germany)
RFC7.4A Mutation in WT1 (Wilms' tumor suppressor 1) associated with 46,XX TDSD
Caroline Eozenou (Paris, France)
RFC7.5Fertility preservation in an adolescent boy: Inducing puberty and spermatogenesis prior to Bone Marrow transplantation
Cindy Ho (Victoria, Australia)
RFC7.6The hopeful beginnings of fertility preservation in children
Cindy Ho (Victoria, Australia)
RFC7.7Clinical Decision-Making in Disorders of Sex Development (DSD): Physician Recommendations Pre- and Post-Consensus Statement
David Sandberg (Michigan, USA)
RFC7.8Premature adrenarche in girls at pubertal onset is associated with high androgens, but lower AMH concentrations
Paulina Merino (Santiago, Chile)
09:45FC7.1Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients
Esperanza Berensztein (Buenos Aires, Argentina)
09:55FC7.2Serum irisin concentrations in lean adolescents with polycystic ovary syndrome
Flora Bacopoulou (Athens, Greece)
10:05FC7.3Estrogen insensitivity due to a novel ESR1 mutation in a consanguineous family from Algeria
Sakina Kherra (Laghouat, Algeria)
10:15FC7.4Disruption of long-range transcriptional regulation of genes known to be associated with DSD
Selma Witchel (Pittsburgh, USA)
10:25FC7.5Targeted Exome Sequencing for Genetic Diagnosis of Patients with Disorders of Sex Development
Ja Kim (Guri City, Republic of Korea)
10:35FC7.6Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure
Monica Franca (Sao Paulo, Brazil)
09:15-10:45RFC & FC 8 - Growth: Clinical
Chair(s):Pierre Bougnères (Paris, France) & Susan O’Connell (Cork, Ireland)
Salle Maillot
RFC8.1Somavaratan (VRS-317) Treatment of Children with Growth Hormone Deficiency (GHD): Results at 2 Years (NCT02068521)
Bradley Miller (USA)
RFC8.2Pharmacokinetic Modelling predicts native hGH levels following administration of a sustained-release prodrug, TransCon hGH, to children with GHD.
Kennett Sprogøe (Palo Alto, USA)
RFC8.3Batch-to-Batch Consistency of a Highly O-Glycosylated Long-Acting Human Growth Hormone (MOD-4023)
Oren Hershkovitz (Nes Ziona, Israel)
RFC8.4A hybrid Fc-fused human growth hormone, GX-H9, shows a potential for weekly and semi-monthly administration in clinical studies
EunJig Lee (Seoul, Republic of Korea)
RFC8.5Optimal Sampling of IGF-1 During Weekly Administration of a Long Acting Human Growth Hormone (MOD 4023)
Gili Hart (Nes Ziona, Israel)
RFC8.6A Six-Month Safety and Efficacy Study of TransCon hGH Compared to Daily hGH in Pre-Pubertal Children with Growth Hormone Deficiency (GHD)
Pierre Chatelain (Lyon, France)
RFC8.7Safety and Tolerability of Once-Weekly Administration of CTP-Modified Human Growth Hormone (MOD-4023): 24-month Complete Dataset Results of a Phase 2 Study in Children with Growth Hormone Deficiency
Gili Hart (Nes Ziona, Israel)
RFC8.8Efficacy of Once-Weekly Administration of CTP-Modified Human Growth Hormone (MOD-4023): 24-Month Complete Database Results of a Phase 2 Study in Children with Growth Hormone Deficiency
Gili Hart (Nes Ziona, Israel)
09:45FC8.1Transcriptomics and Machine Learning Methods Accurately Predict Diagnosis and Severity of Childhood Growth Hormone Deficiency
Philip Murray (Manchester, UK)
09:55FC8.2Whole exome sequencing can identify defects not detected by candidate gene sequencing in patients with short stature and features of growth hormone insensitivity (GHI)
Lucy Shapiro (London, UK)
10:05FC8.3PAPP-A2 Gene Mutation Effects on Glucose Metabolism and Bone Mineral Density and Response to Therapy with Recombinant Human IGF-I
Catalina Salcedo (Cincinnati, USA)
10:15FC8.4Genetic Insights from Children with Idiopathic Short Stature in the EPIGROW Study
Reena Perchard (University of Manchester, Manchester, UK)
10:25FC8.5Longitudinal study on body composition, insulin sensitivity and β-cell function in SGA adults from stop of long-term GH treatment until 5 years after stop
Manouk Steen (Rotterdam, The Netherlands)
10:35FC8.6Birth characteristics explain one third of expected deaths in rhGH-treated patients diagnosed with IGHD, ISS & SGA.
Kerstin Albertsson-Wikland (Gothenburg, Sweden)
09:15-10:45RFC & FC 9 - Pathophysiology of Disorders of Insulin Secretion
Chair(s):Marc Nicolino (Lyon, Frace) & Carine de Beaufort (Luxenbourg, Luxenbourg)
252 AB L2
RFC9.1Neonatal diabetes due to NKX2.2 mutation – Genotype, clinical phenotype and therapeutic challenges in a very low birth weight diabetic neonate
Adi Auerbach (Jerusalem, Israel)
RFC9.2Missense mutation of GLIS3 gene resulting inneonatal diabetes and congenital hypothyroidism
Nadia Alghazir (Tripoli, Libya)
RFC9.3Molecular analysis of a large cohort of MODY patients by Next Generation Sequencing.
Rosangela Artuso (Florence, Italy)
RFC9.4Prevalence of monogenic diabetes in the Lithuanian paediatric and young adult population
Valerie Schwitzgebel (Geneva, Switzerland)
RFC9.5Non-mody monogenic diabetes: A very heterogenous and problematic group of diabetes
Zeynep Siklar (Ankara, Turkey)
RFC9.6Emerging pitfalls of etiological diagnosis of diabetes in children and adolescents? Analysis of a French cohort of 310 recent-onset cases
Elise Bismuth (Saint Pierre, Reunion)
RFC9.7Chronotype and Type 2 Diabetes Risk in Preadolescents
Magdalena Dumin (Chicago, USA)
RFC9.8Micro RNAs and Diabetic Nephropathy
Shereen Abdelghaffar (Cairo, Egypt)
09:45FC9.1Next generation sequencing for the diagnosis of monogenic diabetes in Switzerland
Philippe Klee (Geneva, Switzerland)
09:55FC9.2NBAS mutations, a new monogenic cause of DISOPHAL, a new syndrome with Type 1 diabetes (T1D).
Dr. Anya Rothenbuhler (Paris, France)
10:05FC9.3Gastrointestinal dysmotility and pancreatic exocrine insufficiency as newly recognised possible features in two siblings with Donohue syndrome
Eirini Kostopoulou (London, UK)
10:15FC9.4The Protective Effects of Adenovirus-mediated IL-10 Gene and Anti-CD20 Monoclonal Antibody on the Pancreatic β Cells of NOD Mice in the Early Stage of Natural T1D Onset
Tang Li (Shandong, China)
10:25FC9.5Evaluation of a novel method to detect residual ß-cell function by dried blood spots in children and adolescents with a recent diagnosis of type 1 diabetes
Ruben Willemsen (Cambridge, UK)
10:35FC9.6Circulating angiopoietin-2 levels in young patients with type 1 diabetes mellitus: A link between inflammation, micro-vascular complications and subclinical atherosclerosis
Nancy Elbarbary (Cairo, Egypt)
10:45-11:15Refreshment break, posters and exhibition
Exhibition area
11:15-11:30ESPE Awards
Chair(s):Gary butler (London, UK) & Jan Lebl (Prague, Czech Republic)
Outstanding Clinician Award, International Outstanding Clinician Award, Hormone Research in Paediatrics prizes
Grand Amphithéâtre L2
11:30-12:00Plenary 5
Chair(s):Mehul Dattani (London, UK) & Annette Grüters-Kieslich (Berlin, Germany)
Grand Amphithéâtre L2
11:30PL5Genetics of common and uncommon obesity
Philippe Froguel (London, UK)
12:15-13:45RFC & FC 10 - Perinatal Endocrinology
Chair(s):Veronica Mericq (Santiago, Chile) & Regis Coutant (Angers, France)
Amphithéâtre Bleu L2
RFC10.1Paternal loss-of-function mutations of GNAS and growth retardation in a mice model: a specific placental transcriptomic signature?
Lea Tran (Caen, France)
RFC10.2Dysregulation of placental mirna in maternal obesity is associated with pre-and post-natal growth
Judit Bassols (Salt, Spain)
RFC10.3Vitamin D depletion in pregnancy decreases survival time, oxygen saturation, lung weight and body weight in preterm rat offspring.
Sine Lykkedegn (Odense, Denmark)
RFC10.4Pharmacokinetics of Intravenous Glucagon in Children with Hyperinsulinaemic Hypoglycaemia
Pratik Shah (London, UK)
RFC10.5Phenotype, Genotype and Short term Outcome in Congenital Hyperinsulinism (CHI)
Mudita Dhingra (Mumbai, India)
RFC10.6Increased Islet Cell Neogenesis and Endocrine Cell Differentiation in Congenital Hyperinsulinism in Infancy
Elise Hardwick (Manchester, UK)
RFC10.7Expression of Insulin Receptor Isoforms and Type 1 insulin-like growth factor receptor in the placenta as a function of fetal weight.
Dov Tiosano (Haifa, Israel)
RFC10.8Gestational diabetes is associated with changes in placental microbiota and microbiome
Judit Bassols (Salt, Spain)
12:45FC10.1CYP11B1 deficiency in very preterms: evidence for an adrenal cortex zone-specific and developmental-dependent maturation
Simon Travers (Le Kremlin-Bicêtre, France)
12:55FC10.2Liver UPR and metabolic consequences in an animal model of intrauterine growth retardation (IUGR)
Annalisa Deodati (Rome, Italy)
13:05FC10.3Pharmacokinetics of Long Acting Somatostatin Analogue (Lanreotide) therapy in Hyperinsulinaemic Hypoglycaemia (HH) and understanding its molecular action via somatostatin receptors by Immunohistochemistry
Pratik Shah (London, UK)
13:15FC10.4In utero and postnatal consequences of psychological maternal stress have different effects on longevity: studies in World War 1 orphans.
Nicolas Todd (Bicêtre, France)
13:25FC10.5Effects of developmental bisphenol A exposure on spermatozoal microRNA expression
Benjamin Fisher (Cambridge, UK)
13:35FC10.6Developmental programming of somatic growth, behavior and the endocannabinoid system (ECS) by variation of early postnatal nutrition in a cross-fostering mouse model
Felix Schreiner (Bonn, Germany)
12:15-13:45RFC & FC 11 - Thyroid
Chair(s):Paul Von Trotsenberg (Amsterdam, The Netherlands) & José Moreno (Madrid, Spain)
Amphithéâtre Bordeaux L3
RFC11.1Central hypothyroidism and biallelic defect near the D/ERY motif of the TRHR gene
Marta García (Madrid, Spain)
RFC11.2The incidence and genetic analysis of Congenital Hypothyroidism in Guangxi, China and the predictors for differentiating permanent and transient congenital hypothyroidism
Shaoke Chen (Nanning, China)
RFC11.3Germline and somatic DICER1 mutations in familial Papillary Thyroid Carcinoma and Multinodular Goiter.
César Lumbreras (Madrid, Spain)
RFC11.4Thyroid function in monozygotic twins with intra-twin birth-weight-differences
Sandra Schulte (Bonn, Germany)
RFC11.5Novel homozygous mutation in the sodium/iodide symporter (NIS) gene highlight by next generation sequencing (NGS) in a patient with congenital hypothyroidism
Isabelle Petit (Toulouse, France)
RFC11.6Falsely TSH and free thyroid hormone measurements in paediatric patients treated with high dose of biotin
Moran Gal (Ramat Gan, Israel)
RFC11.7Secondary Thyroid cancer among childhood cancer survivors. A single institution experience.
Monica Muraca (Genova)
12:45FC11.1Mutations in TBL1X as a novel cause of familial central hypothyroidism
Charlotte Heinen (Amsterdam, The Netherlands)
12:55FC11.2Overexpression of DYRK1A, Located in the Down Syndrome Critical Region, Leads to Primary Hypothyroidism in Down Syndrome through Interaction with FOXE1
Dulanjalee Kariyawasam (Paris, France)
13:05FC11.3Genetic heterogeneity revealed by WES in a cohort of patients with Brain-Lung-Thyroid syndrome
Anathanasia Stoupa (Paris, France)
13:15FC11.4Decreased proportions of CD4+IL17+/CD4+CD25+CD127- and CD4+IL17+/CD4+CD25+CD127-FoxP3+ T cells in children with autoimmune thyroid diseases.
Artur Bossowski (Bialystok, Poland)
13:25FC11.5Paediatric reference values of thyrotropin (TSH) should be personalized according to child characteristics
Joseph Meyerovitch (Petah Tikva, Israel)
13:35FC11.6Too many TFTs? A change in neonatal thyroid function testing in a peripheral hospital in Ireland.
Aedin Collins (Dogheda, Ireland)
12:15-13:45RFC & FC 12 - Neuroendocrinology
Chair(s):Najiba Lahlou (Paris, France) & Lourdes Ibáñez (Barcelona, Spain)
252 AB L2
RFC12.1Molecular genetic diagnosis of idiopathic hypogonadotropic hypogonadism by using targeted next-generation sequencing
Kohei Aoyama (Nagoya, Japan)
RFC12.2A novel mutation of KISS1R causing a normosmic isolated hypogonadotropic hypogonadism
Keisuke Yoshii (Paris, France)
RFC12.3Next Generation Sequencing and precocious puberty: a new diagnostic challenge to identify the molecular basis of complex diseases
Andrea Barbera (Florence, Italy)
RFC12.4Molecular screening of MKRN3, DLK1 and KCNK9 genes in central precocious puberty
Anna Grandone (Naples, Italy)
RFC12.5A novel MKRN3 nonsense mutation causing familial central precocious puberty
Athanasios Christoforidis (Thessaloniki, Greece)
RFC12.6Serum antimüllerian hormone and inhibin B as potential markers for progressive central precocious puberty in girls
Ting Chen (Suzhou, China)
RFC12.7Prevalence of organic lesions in males with central precocious puberty
Stefania Pedicelli (Rome, Italy)
RFC12.8Circulating MKRN3 levels decline during puberty in healthy boys
Alexander Busch (Copenhagen, Denmark)
12:45FC12.1Rabconnectin3-α is indispensable for the Activation and Maturation of the GnRH Neuronal Network
Brooke Tata (Paris, France)
12:55FC12.2LGR4 and EAP1 mutations are implicated in the phenotype of self-limited delayed puberty.
Alessandra Mancini (London, United Kingdom)
13:05FC12.3Inactivating Mutations in CCDC141 Causing Idiopathic Hypogonadotrophic Hypogonadism/Kallmann Syndrome
Ihsan Turan (Adana, Turkey)
13:15FC12.4Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1
Leman Kotan (Adana, Turkey)
13:25FC12.5Abnormal corticospinal tract decussation in Kallmann syndrome due to ANOS1 (KAL1) mutations: an explanation of the mirror movements frequently observed in these patients
Laura González-Briceño (Paris, France)
13:35FC12.6Pubertal onset in boys is influenced by BMI and genetic variation of FSHB and FSHR: A study in two population-based cohorts of different genetic ancestry
Alexander Busch (Copenhagen, Denmark)
12:15-13:45RFC & FC 13 - Management of Obesity
Chair(s):Bessie Spiliotis (Athens, Greece) & Antje Korner (Leipzig, Germany)
Salle Maillot - L2
RFC13.1Inhibition of teneurin-2 (TENM2) leads to upregulation of UCP1 in human white adipocytes
Daniel Tews (Ulm, Germany)
RFC13.2The use of proteomics in the assessment of health status of offspring born after intracytoplasmic sperm injection (ICSI)
Ioanna Kosteria (Athens, Greece)
RFC13.3Effects of eating rate on satiety hormones, meal enjoyment and memory for recent eating: An fMRI study
Katherine Hawton (Bristol, UK)
RFC13.4Which amount of BMI-SDS reduction is necessary to improve cardiovascular risk factors in overweight and obese children?
Thomas Reinehr (University of Witten/Herdecke, Datteln, Germany)
RFC13.5Protective potential of Metformin on membrane linked functions in diabetic aging female rats.
Pardeep Kumar (New Delhi, India)
RFC13.6Outcome of Sleeve gastrectomy in the Lebanese adolescent population
Mohamad Elfawal (Beirut, Lebanon)
RFC13.7Early-onset obesity and hyperphagia associated with defects in the GNAS gene
Marta García (Madrid, Spain)
RFC13.8Measuring subcutaneous adipose tissue using ultrasound in children
Adela Chirita-Emandi (Timisoara, Romania)
12:45FC13.1Quantitative proteomic of rat livers shows a major reprogramming of mitochondrial enzymes in food-restriction and increased stress hallmarks in ad libitum feeding
Galia Gat-Yablonski (Petach-Tikva, Israel)
12:55FC13.2Measurement of immunofunctional leptin to detect patients with functional leptin deficiency
Professor Martin Wabitsch (University of Ulm, Germany)
13:05FC13.3Hypothalamic gliosis in obese children and adolescents
Leticia Sewaybricker (Sao Paulo, Brazil)
13:15FC13.4Efficacy and safety of duodenal-jejunal bypass liner in morbidly obese adolescents-1 year experience
Primoz Kotnik (Ljubljana, Slovenia)
13:25FC13.5Effects of AZP-531, a first-in-class unacylated ghrelin analog, on food-related behaviour in Prader-Willi patients: a multi-center, randomized, placebo-controlled study
Maithé Tauber (Toulouse, France)
13:35FC13.6Treatment for early onset and extreme obesity in two POMC deficient patients: Successful weight loss with the melanocortin-4 receptor agonist setmelanotide
Peter Kühnen (Berlin, Germany)
12:15-13:45RFC & FC 14 - Growth : Mechanisms
Chair(s):Frederic Brioude (Paris, France) & Weiland Kiess (Leipzig, Germany)
342 AB L3
RFC14.1Important 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
Enzo Cohen (Paris, France)
RFC14.3Whole Exome Sequencing Identifies a GH1 Gene Mutation Causing Familial Isolated Growth Hormone Deficiency with Normal Peak Growth Hormone Concentrations
Catalina Salcedo (Cincinnati, USA)
RFC14.2Contribution of GHR and IGFALS mutations to growth hormone resistance – Identification of new variants and impact on the inheritance pattern
Marie Legendre (Paris, France)
RFC14.4Genetic diagnosis of congenital growth hormone deficiency by massive parallel sequencing using a target gene panel
Marilena Nakaguma (Sao Paulo, Brazil)
RFC14.5Gene Expression Profiling of Children with GH Deficiency (GHD) Prior to Treatment with Recombinant Human Growth Hormone (r-hGH) is Associated with Growth Response Over Five Years of Therapy
Adam Stevens (Manchester, United Kingdom)
RFC14.6Effect of small size at birth, adult body size and growth hormone treatment on telomere length
Carolina Smeets (Rotterdam, The Netherlands)
RFC14.7GH influences plasma fasting adropin concentration in patients with Turner syndrome
Beata Wikiera (Wroclaw, Poland)
RFC14.8ACAN mutations in short children born SGA; growth response during GH treatment with additional GnRHa, and a proposed clinical scoring system.
Manouk Steen (Rotterdam, The Netherlands)
12:45FC14.1Clinical characterization of children with autosomal dominant short stature due to aggrecan mutations broadens the phenotypic spectrum
Alexandra Gkourogianni (Athens, Greece)
12:55FC14.2CG methylation at the IGF1 P2 promoter is a major epigenetic determinant of postnatal, not foetal growth.
Myriam Ouni (Bicêtre, France)
13:05FC14.3CG at the methylation IGF1 locus is an epigenetic predictor of GH sensitivity.
Myriam Ouni (Bicêtre, France)
13:15FC14.4Preferential paternal transmission of the T allele for the rs1802710 polymorphism in Dlk1 gene as a pre- and postnatal growth regulator
Anna Prats-Puig (Girona, Spain)
13:25FC14.5Preferential transmission of the paternal C allele of the rs9373409 polymorphism in PLAGL1 gene as a regulator of fetal growth and maternal metabolism
Anna Prats-Puig (Girona, Spain)
13:35FC14.6In vitro and in vivo evidence for a growth inhibitory role of the transcription factor ZBTB38 throughout pre- and post-natal life
Sam Parsons (Manchester, UK)
12:15-13:45RFC & FC 15 : Late Breaking
Chair(s):Sandro Loche (Cagliari, Italy) & Lars Savendahl (Stockholm, Sweden)
Grand Amphithéâtre L2
RFC15.1A novel homozygous mutation in the domain AF-2 of alpha estrogen receptor gene (ESR1), generating a bio-inactive ERα mutant, resulting in estrogen resistance with complex metabolic phenotype.
Eva Feigerlova (Nancy, France)
RFC15.2NR0B1 Frameshift Mutation in a Boy with Precocious Puberty and Normal Adrenal Function
Hirohito Shima (Tokyo, Japan)
RFC15.4The Effect of Sfrp5, Wnt5a, Adiponectin, and Chemerin on Blood Pressure Regulation in Obese Children
Yan Xiao (Xi'an, China)
RFC15.5Effect of melatonin on proliferation and differentiation of human dental pulp cells
Hongwen He (Guangzhou, China)
RFC15.6Safety of GH in Paediatrics: The GeNeSIS Prospective Observational Study Experience Between 1999 and 2015
Christopher Child (Surrey, UK)
RFC15.7Long-term safety and effectiveness of daily and weekly growth hormone treatment in paediatric GHD patients (4-years’ results)
Sochung Chung (Seoul, Republic of Korea)
RFC15.8Replacement Of Male Mini-Puberty
Dimitrios Papadimitriou (Athens, Greece)
12:45FC15.1NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of development
Dorien Baetens (Ghent, Belgium)
12:55FC15.2Mutations in SGPL1, the gene encoding sphingosine-1-phosphate lyase, cause a novel form of primary adrenal insufficiency with steroid resistant nephrotic syndrome
Rathi Prasad (London, UK)
13:05FC15.3Contribution of next generation sequencing approach for management of congenital hypothyroidism with eutopic gland
Isabelle Petit (Toulouse, France)
13:15FC15.4Vitamin D-dependent rickets type 1 caused by mutations in CYP27B1 affecting protein interactions with adrenodoxin
Amit Pandey (Bern, Switzerland)
13:25FC15.5Effect of Conjugated Linoleic Acid and Metformin on Insulin Sensitivity, measured by Euglycemic-Hyperinsulinemic Clamp Technique, in Children with obesity: A Randomized, Double-Blinded, Placebo-Controlled Trial.
Nayley Garibay (Mexico City, Mexico)
13:35FC15.6Type 1 diabetes associated serum Insulin-like growth factor I (IGF-I) reference values in children and adolescents
Daniel Öberg (Västervik, Sweden)
13:45-15:15Lunch, posters and exhibition
Exhibition area
13:45-15:15ESPE Activities Update
Chair(s):Jan Lebl (Prague, Czech Republic), Rasa Verkauskiene (Kaunas, Lithuania), Faisal Ahmed (Glasgow, UK) & Martine Cools (Ghent, Belgium)
252 AB
The Summer School Training Opportunity – a view from the faculty
Johnny Deladoey (Montreal, Canada)
The Summer School Training Opportunity – the trainees’ perspective
Júlia Galhardo (Lisbon, Portugal)
Winter School update
John Gregory (Cardiff, UK)
Winter School from a fellow’s perspective
Lusine Kalantaryan (Yerevan, Armenia)
Success of paediatric endocrinology training in North Africa
ESPE-ASPED School update
Caucasus & Central Asia school oppurtunities
Rasa Verkauskiene (Kaunas, Lithuania)
Fellow's feedback from the 2nd ESPE Caucasus & Central Asia School in Tashkent
Olessya Mikhailyuk ()
Diabetes, Obesity & Metabolism (DOM) school update
Moshe Philip (Petah Tikva, Israel)
Clinical fellowship programme: past and future
Rasa Verkauskiene (Kaunas, Lithuania)
ESPE Clinical Fellowship: from inspiration to new horizons
Evgenia Globa ()
Maintaining Paedeatric Endocrine Training Centres for Africa (PETCA), the best ESPE educational activity
Ieuan Hughes (Cambridge, UK)
Review of the ETC over the last 6 years
Jan Lebl (Prague, Czech Republic)
ESPE Science Committee Activity updates: Introduction
Faisal Ahmed (Glasgow, United Kingdom)
ESPE research unit
Irène Netchine (Paris, France)
Science workshop
Research fellowship
Katharina Main (Copenhagen, Denmark)
Early career scientific development award
Faisal Ahmed (Glasgow, United Kingdom)
Mid-career scientific development award
Outi Mäkitie (Helsinki, Finland)
Expert panel
Martine Cools (Ghent, Belgium)
14:00-15:00Industry Sponsored Satellite Symposia
Salle Maillot L2
15:15-16:15Meet the Expert 6 (repeated)
252 AB L2
15:15MTE6.2Prolactinomas in adolescence
Philip Chanson (Paris, France)
15:15-16:15Meet the Expert 7 (repeated)
Salle Maillot L2
15:15MTE7.2Neonatal hypocalcaemia
Serap Turan (Istanbul, Turkey)
15:15-16:15Meet the Expert 8 (repeated)
342 AB L3
15:15MTE8.2Steroid measurements in paediatric endcrinology
Yves Morel (Lyon, France)
15:15-16:45Symposium 8: Stem cells in endocrine organs
Chair(s):Ivo Arnhold (São Paolo, Brazil) & Martin Wabitsch (Ulm, Germany)
Amphithéâtre Bleu L2
15:15S8.1Pituitary stem cells
Cynthia Andoniadou (London, UK)
15:45S8.2Pluripotent stem cells in endocrinology
Rudolph Leibel (New York, USA)
16:15S8.3Hubs in the pancreas
David Hodson (University of Oxford, Oxford, UK)
15:15-16:45Symposium 9: Recent advances in congenital adrenal hyperplasia
Chair(s):Evangelia Charmandari (Athens, Greece) & Stefan Wudy (Giessen, Germany)
Grand Amphithéâtre L2
15:15S9.1Long-term health in congenital adrenal hyperplasia: lessons from a national study
Anna Nordenström (Karolinska University Hospital, Stockholm, Sweden)
15:45S9.2New approaches to glucocorticoid replacement
Richard Ross (Sheffield, UK)
16:15S9.3New approaches to limit glucocorticoid exposure
Richard Auchus (Michigan, USA)
15:15-16:45Symposium 10: Endocrine management of preterms
Chair(s):Margaret Zacharin (Melbourne, Australia) & Gabriel Á Martos-Moreno (Madrid, Spain)
Amphithéâtre Bordeaux L3
15:15S10.1Glucose metabolism and management in premature babies
Kathryn Beardsall (Cambridge, UK)
15:45S10.2The gonadotropic axis in premature babies
Leo Dunkel (London, UK)
16:15S10.3The mineralcorticoid system and its implications for neonatal adaptation in premature babies
Laetitia Martinerie (Paris, France)
16:45-Exhibition closes
16:45-17:15ESPE Awards
Chair(s):Peter Clayton (Manchester, UK) & Jean-Claude Carel (Paris, France)
ESPE International Award, ESPE president poster award
Grand Amphithéâtre L2
17:15-17:45Plenary 6
Chair(s):Moshe Phillip (Petah Tikva, Israel) & Tadej Battelino (Ljubljana, Slovenia)
Grand Amphithéâtre L2
17:15PL6Cell therapy in Type 1 diabetes
Bart Roep (Leiden, The Netherlands)
17:45-18:00Closing Ceremony
Jean-Claude Carel, Peter Clayton & Mehul Dattani
Grand Amphithéâtre L2