ESPE2018

Thursday 27 September 2018

07:30-20:30Registration
08:00-10:00ESPE Working Group on Disorders of Sex Development (DSD) & Turner Syndrome (TS)
Chair(s):Tülay Güran (Istanbul, Turkey), Malcolm Donaldson (Glasgow, UK), Rodolfo Rey (Buenos Aires, Argentina) & Christina Kanaka-Gantenbein (Athens, Greece)
ESPE DSD and TS Joint Meeting: Common ground of DSD and TS
Christos Lambrakis Hall
08:00Introduction
08:03Session 1: Mixed gonadal dysgenesis
Tülay Güran (Istanbul, Turkey)
08:05WG1.1Longterm outcome in males with 45,X/46,XY mosaicism
Marie Ljubicic (Presented by Ewa Rajpert-De Meyts))
08:25WG1.2The 45X/46XY gonad and similar variants – characteristics and risk of malignancies
Ewa Meyts (Copenhagen, Denmark)
08:50Session 2: Introduction
Rodolfo Rey (Buenos Aires, Argentina)
08:52WG1.3Congenital heart defects and cardiovascular risk in individuals who have a 45X/46XY karyotype
Katya De Groote (Ghent, Belgium)
09:20WG1.4Condition-specific tools for transition care multidisciplinary programs: lessons from the Turner syndrome models
Sarah Corrathers (Cincinnati, USA)
09:45WG1.5DSD News: I-DSD, I-CAH; DSDnet, Endo-ERN
09:52WG1.6TS News
Malcolm Donaldson (Glasgow, UK)
09:59Closing Remarks
08:00-10:00ESPE Working Group on Obesity
Chair(s):Jesús Argente (Madrid, Spain) & Tatyana Chaychenko (Kharkiv, Ukraine)
Lessons of metabolism in childhood obesity
Dimitris Mitropoulos Hall
08:00WG2.1Body shapes - growth phenotypes in obese children
Antje Körner (Leipzig, Germany)
08:30WG2.2Impaired fasting glycaemia in pediatric obesity and type 2 diabetes in young adulthood
Claude Marcus (Stockholm, Sweden)
09:00WG2.3Less Prenatal and/or More Postnatal Weight Gain: a Highway to PCOS
Francis De Zegher (Leuven, Belgium)
09:30WG2.4Effects of the fetal-neonatal environment on later metabolism.
Julie Chowen (Madrid, Spain)
08:00-10:00ESPE Working Group on Bone and Growth Plate (BGP)
Chair(s):Ola Nilsson (Stockholm, Sweden), Oliver Semler (Cologne, Germany)
A Concise Update from the European Reference Networks & BGP case studies
Alexandra Trianti Hall
08:05WG3.1Assessment of fracture risk in children
Amaka Offiah (Sheffield, UK)
08:35WG3.2SHOX – from gene to growth plate
Gudrun Rappold (Heidelberg, Germany)
09:10WG3.3Complex Clinical Presentations: Case Study 1:Dysosteosclerosis: Phenotypic and Genetic Heterogeneity
Serap Turan (Istanbul, Turkey)
09:25WG3.4Complex Clinical Presentations: Case Study 2: - A case of severe osteoporosis in a child with myasthenia gravis; remarkable improvement after treatment with rituximab
Artemis Dougleraki (Athens, Greece)
09:40WG3.5Update on EndoERN
Agnès Linglart, MD, PhD (Paris, France)
09:50WG3.6Update on BOND
Nick Bishop (Sheffield, UK)
08:00-10:00ESPE Working Group on Diabetes Technology (DT)
Chair(s):Moshe Phillip (Petah Tikva, Israel) & Tadej Battelino (Ljubljana, Slovenia)
Digital Clinics
Banqueting Hall
08:00WG4.1Introduction
Moshe Phillip (Israel)
08:05WG4.2How do we run our diabetes centers: University Children's Hospital, University Medical Centre Ljubljana (Slovenia) and Schneider Children's Medical Center (Israel)
Tadej Battelino (Ljubljana, Slovenia)
08:25WG4.3Use of Apps for Physical activity in type 1 diabetes
Olga Kordonouri, MD ()
08:45WG4.4The future role of machine learning and computer vision in carbohydrate estimation for patients with diabetes
Stavroula Mougiakakou (Bern, Switzerland)
09:05WG4.5Analyzing and Reporting of Sensor Glucose Levels
Revital Nimri (Petah Tikva, Israel)
09:25WG4.6Updates on the developments of Decision Support Systems for the treatment of diabetes
Moshe Phillip (Petah Tikva, Israel)
09:45WG4.7Use of social media for improving glucose control in patients with type 1 diabetes
Goran Petrovski (Skopje, Macedonia)
08:00-10:00Working Group: Paediatric and Adolescent Gynaecology (PAG)
Chair(s):Anne-Simone Parent (Liège, Belgium) & Abel López-Bermejo (Girona, Spain)
Understanding the mechanisms related to pubertal onset and progression as well as the consequences of early puberty
Nikos Skalkotas Hall
08:00WG5.1Prenatal Programming of PCOS: interplay between anti-müllerian hormone and the GnRH system
Paolo Giacobini (Lille, France)
08:25WG5.2Genetic determinants of puberty timing
Ken Ong (Cambridge, UK)
08:45WG5.3Body adiposity as a determinant of age at puberty
Frank Biro (Cincinnati, USA)
09:10WG5.4Endocrine-metabolic outcome of women with a history of sexual precocity
Liat Vries (Petah Tikva, Israel)
09:30WG5.5Neurodevelopment and puberty
Anne-Lise Goddings (London, UK)
08:00-10:00Working Group: Gender Dysphoria
Chair(s):Gary Butler (London, UK)
Non-binary gender indentification & fertility in transgender adolescents
MC3
08:00Section 1: Non-binary gender identification; Social and endocrine management challenges
08:05WG6.1Gender identity development: Neither male nor female or being both, growing up as gender queer
Thomas Steensma (Amsterdam, The Netherlands)
08:30Endocrine challenges in adolescents with non-binary gender identification.
Panel case-presenting participants ()
09:00Section 2: Fertility in transgender adolescents
09:05WG6.2Current options for fertility conservation in trans-teenagers
Ephia Yasmin (University College London Hospital, London, UK)
09:30WG6.3Fertility preservation in transgender adolescents: an ethical perspective. Is the sky the limit?
Martine Vries (Leiden, The Netherlands)
08:00-10:00Global Pediatric Endocrinology and Diabetes (GPED)
The art of pediatric endocrine testing: Assessing the needs of low-resource settings
MC2
08:00Introduction
Dr Chanoine (University of British Columbia in Vancouver, Vancouver, Canada)
08:05The 2018 World Health Organization Model List of Essential In Vitro Diagnostics
Dr Oettingen, (Montreal, Canada)
08:25Diagnostic Endocrine Tests in Egypt and Indonesia: Opportunities and Obstacles
09:05The WHO Model Lists of Essential Medicines and of In Vitro Diagnostics: Two Sides of the Same Coin?
Jean-Pierre Chanoine (Vancouver, Canada)
09:25Round Table
Jean-Pierre Dipesalema ()
10:00-10:30Refreshment Break, Posters & Exhibition
10:30-10:45Opening Ceremony
Christos Lambrakis Hall
10:45-11:15Plenary 1
Chair(s):Peter Clayton (Manchester, UK) & Anita Hokken-Koelega (Rotterdam, The Netherlands)
Christos Lambrakis Hall
10:45PL1Oncofertility: From Bench to Bedside to Babies
Teresa Woodruff (Chicago, USA)
11:15-11:45ESPE AWARDS
Chair(s): Mehul T Dattani (London, UK)
Henning Andersen Prizes
Supported by Novo Nordisk
Christos Lambrakis Hall
12:00-13:30Special Symposium: Nutrition and Growth
Chair(s):Moshe Phillip (Petah Tikva, Israel) & Jan-Maarten Wit (Leiden, Holland)
Nikos Skalkotas Hall
12:00SS1.1It is not just the growth hormone axis
Ola Nilsson (Stockholm, Sweden)
12:30SS1.2Fascinating growth phenomena: what causes individual catch-up growth and population secular change
Jan-Maarten Wit (Willem-Alexander Children’s Hospital, Leiden, The Netherlands)
13:00SS1.3Interaction between nutrition, the endocrine system and the growth plate
Moshe Phillip (Petah Tikva, Israel)
12:00-13:30Symposium 1
Chair(s):Roland Pfäffle (Leipzig, Germany) & Rachel Reynaud (Marseille, France)
Recent developments in the understanding of Hypothalamo-pituitary disorders
Dimitris Mitropoulos Hall
12:00S1.1The molecular basis of Combined Pituitary Hormone Deficiency: lessons from animal models
Sally Camper (Michigan, USA)
12:30S1.2Stem Cells in the Pituitary: a role for regeneration?
Karine Rizzoti (London, UK)
13:00S1.3A novel role for Vasopressin in parenting
Andrés Bendesky (New York, USA)
12:00-13:30Symposium 2
Chair(s):Christina Kanaka-Gantenbein (Athens, Greece) & Reiko Horikawa (Tokyo, Japan)
Gonads/DSD
Banqueting Hall
12:00S2.1The biology of germ cell tumors in Disorders of Sex Development
Leendert Looijenga (Rotterdam, The Netherlands)
12:30S2.2Disruption of testicular development and function
Rod Mitchell (The University of Edinburgh , Edinburgh, UK)
13:00S2.3Assessing gonadal function
Anders Juul (Copenhagen, Denmark)
12:00-13:30Symposium 3
Chair(s):Asma Deeb (Abu Dhabi, UAE) & Agnès Linglart (Paris, France)
Recent Consensus Guidelines
Christos Lambrakis Hall
12:00S3.1Silver-Russell Syndrome
Irene Netchine (Paris, France)
12:20S3.2Hypogonadotrophic Hypogonadism
Taneli Raivio (Helsinki, Finland)
12:40S3.3Paediatric Obesity
Dennis Styne (Sacramento, USA)
13:00S3.4Prevention and Management of Rickets
Wolfgang Hogler (Birmingham, UK)
12:00-13:30Controversy 1
Chair(s):Stefano Cianfarani (Rome, Italy)
Should growth hormone be used in iSS?
Alexandra Trianti Hall
12:00CON1.1PRO - Should Growth Hormone be used in iSS?
Ron Rosenfeld (Oregon, USA)
12:45CON1.2AGAINST - Should Growth Hormone be used in iSS?
Jean-Claude Carel (Paris, France)
13:30-15:00Lunch, Posters & Exhibition
14:00-15:00Satellite Symposia
Alexandra Trianti Hall
15:00-16:00Free Communications 1
Chair(s):Svetlana Lajic (Stockholm, Sweden) & Stefan Wudy (Giessen, Germany)
Adrenals and HPA Axis
Christos Lambrakis Hall
15:00FC1.1A novel non-invasive Short Synacthen Test validated in a healthy paediatric population.
Charlotte Elder (Sheffield Children’s NHS Foundation Trust, Sheffield, UK)
15:10FC1.2Long-term effects of prenatal dexamethasone treatment and postnatal glucocorticoid treatment on brain structure in the context of CAH.
Annelies Westeinde (Stockholm, Sweden)
15:20FC1.3Targetting the binding of ACTH to the Melanocortin receptor by structure modeling and design of peptide antagonists to block excess androgens in 21-hydroxylase deficiency.
Shaheena Parween (Bern, Switzerland)
15:30FC1.4Whole Exome Sequencing in patients with Primary Generalized Glucocorticoid Resistance identifies a novel TRIM28 gene mutation (p.R230X).
Amalia Sertedaki (Athens, Greece)
15:40FC1.5Untargeted Plasma Metabolomics in Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies a Novel Metabolic Signature.
Nicolas Nicolaides (Athens, Greece)
15:50FC1.6A novel stem cell model for the Triple A Syndrome.
Alexandra Costa (London, UK)
15:00-16:00Free Communications 2
Chair(s):Nick Shaw (Birmingham, UK) & Lars Sävendahl (Stockholm, Sweden)
Bone, growth plate and mineral metabolism 1
Banqueting hall
15:00FC2.1Burosumab, a Fully Human Anti-FGF23 Monoclonal Antibody, for X-Linked Hypophosphatemia (XLH): Sustained Improvement in Two Phase 2 Trials in Affected Children 1-12 Years Old.
Agnès Linglart, MD, PhD (Paris, France)
15:10FC2.2Whole genome sequencing reveals novel intragenic deletions of GNAS as causes of pseudohypoparathyroidism type 1a.
Dong Li (Philadelphia, USA)
15:20FC2.3Clinical course of hypoparathyroidism in patients with APECED (APS1)
Saila Laakso (Helsinki, Finland)
15:30FC2.4Diagnostic Performance of Artificial Neural Network-Based TW3 Skeletal Maturity Assessment.
Xuelian Zhou (Hangzhou, China)
15:40FC2.5Radial ESWT stimulates longitudinal bone growth in cultured rat fetal metatarsal bones.
Sowmya Ramesh (Vellore, India)
15:50FC2.6Final Height is Negatively Related to Disease Burden in Mitochondrial Disease.
Rachel Boal (Newcastle, UK)
15:00-16:00Free Communications 3
Chair(s):Hilary Hoey (Ireland) and Thomas Reinehr (Datteln, Germany)
Diabetes and Insulin Session 1
Dimitris Mitropoulos
15:00FC3.1Neonatal diabetes owned to potassium channel mutation: response to sulfonylureas according to the genotype.
Jacques Beltrand (Paris, France))
15:10FC3.2Genome-Wide Meta-Analysis identifies a novel low frequency STK39 variant of large effect on risk of Type 1 Diabetes.
Despoina Manousaki (Montreal, Canada)
15:20FC3.3Pediatric patients with type 1 diabetes and abnormal nerve conduction studies demonstrate higher neopterin levels: potential role as a biochemical marker for peripheral neuropathy.
Nancy Elbarbary (Cairo, Egypt)
15:30FC3.4Is the glycaemic response from fat in meals dose dependent in children and adolescents with T1DM on intensive insulin therapy?
Susan O'Connell (Cork, Ireland)
15:40FC3.5Genotype and Phenotype Correlation in Syndromic Forms of Hyperinsulinaemic Hypoglycaemia – a 10-year follow-up study in a tertiary centre.
Antonia Dastamani (London, UK)
15:50FC3.6Using CRISPR/Cas9gene editing to study the molecular genetics of Congenital Hyperinsulinism.
Preetha Purushothaman (London, UK)
15:00-16:00Free Communications 4
Chair(s):Feyza Darendeliler (Istanbul, Turkey) & Bradley Miller (Minnesota, USA)
GH and IGFs
Nikos Skalkotas
15:00FC4.1Monogenic and digenic gene mutations are present in children with idiopathic short stature (ISS).
Ana Keselman (Buenos Aires, Argentina)
15:10FC4.2Effects of IGF-1R nuclear localization in glioblastoma cells.
Patricia Pennisi (Buenos Aires, Argentina)
15:20FC4.3The reduction in longitudinal growth induced by PAPP-A2 deficiency is associated with reduced body weight, increased energy expenditure and behavior modification.
Jesús Argente (Madrid, Spain)
15:30FC4.4A Cross-sectional Study of IGF-I Bioavailability through Childhood and Associations with PAPP-A2, STC2 and Anthropometric Data.
Masanobu Fujimoto (Cincinnati, USA)
15:40FC4.5Prediction of adult height by artificial intelligence (AI) through machine learning (ML) from early height data.
Alina German (Bnai Zion Medical Cente, Haifa, Israel)
15:50FC4.6Absorption and Excretion of Somapacitan, a Long-Acting Growth Hormone (GH) Derivative.
Michael Rasmussen (Søborg, Denmark)
15:00-16:00Free Communications 5
Chair(s):Johnny Deladoey (Montreal, Canada) & Paul Von Trotsenberg (Amsterdam, The Netherlands)
Thyroid
MC3
15:00FC5.1Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-aggregation.
Aurore Carré (Paris, France)
15:10FC5.2Enrichment of inherited rare variants in non-syndromic congenital hypothyroidism from thyroid dysgenesis identified by exome sequencing: the contribution of IKBKE to vasculogenesis and thyroid development.
Stéphanie Larrivée-Vanier (Montreal, Canada)
15:20FC5.3Computational analysis of the ligand binding domain of the thyroid hormone receptor for the rational design of an efficient protein-based biosensor for the detection of thyroid hormone disrupting chemicals.
Sonia Verma (Bern, Switzerland)
15:30FC5.4Thyroid hormone analog therapy in patients with MCT8 deficiency: the Triac Trial.
Stefan Groeneweg (The Netherlands)
15:40FC5.5Guidelines for the Management of Paediatric Differentiated Thyroid Carcinoma; a UK endeavour.
Sasha Howard (Queen Mary University of London and Barts Health NHS Trust, London, UK)
15:50FC5.6Alterations in DNA methylation status of gene promoters in children and adolescents with autoimmune thyroid disease.
Ioannis Kyrgios (Thessaloniki, Greece)
15:00-16:00How do I...
Chair(s):Nils Krone (Sheffield, UK)
Session 1
Alexandra Trianti Hall
15:00HDI1.1…Interpret a low Vit D concentration?
Raja Padidela (Manchester, UK)
15:20HDI1.2…Differentiate between constitutional delay in growth and puberty and hypog hypog?
Gerhard Binder (Tubingen, Germany)
15:40HDI1.3...Manage an adolescent with Type 1 diabetes and microalbuminuria
Carlo Acerini (Cambridge, UK)
16:00-16:30Rapid Free Communications 1
Chair(s):Svetlana Lajic (Stockholm, Sweden) & Stefan Wudy (Giessen, Germany)
Adrenals and HPA axis
Christos Lambrakis Hall
16:00RFC1.1The relative contributions of genetic and environmental factors on cortisol metabolism at pre-, mid- and post-pubertal ages.
Britt Keulen (Amsterdam, The Netherlands)
16:05RFC1.2Changes in CYP19A1 and CYP3A4 activities due to population genetic variations in human P450 Oxidoreductase.
Shaheena Parween (Bern, Switzerland)
16:10RFC1.3Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction.
Avinaash Maharaj (London)
16:15RFC1.4Mass spectrometry-based assessment of childhood androgen excess in 487 consecutive patients over 5 years.
Jan Idkowiak (Birmingham, UK)
16:20RFC1.5Quantitative urinary GC-MS based steroid analysis for treatment monitoring of adolescents and young adults with autoimmune primary adrenal insufficiency.
Clemens Kamrath (Giessen, Germany)
16:25RFC1.6A laboratory harmonization strategy for steroid hormone profiling by MoM-transformed, normalized reference ranges independent of age-, sex -and units.
Alexandra Kulle (Kiel, Germany)
16:00-16:30Rapid Free Communications 2
Chair(s):Nick Shaw (Birmingham, UK)
Bone, growth plate and mineral metabolism 1
Banqueting hall
16:00RFC2.1High-resolution MRI Imaging Of Bone-Muscle-Fat In Glucocorticoid Treated Boys With Duchenne Muscular Dystrophy: Results from the ScOT-DMD study.
Shuko Joseph (Glasgow, UK)
16:05RFC2.2S-25OHD is Associated with Hand Grip Strength and Myopathy at Five Years in Girls: An Odense Child Cohort Study.
Rada Al-Jwadi (Odense, Denmark)
16:10RFC2.3Measured free 25-hydroxyvitamin D in healthy children and relationship to total 25-hydroxyvitamin D, calculated free 25-hydroxyvitamin D and vitamin D binding protein.
Laura Ara (Barcelona, Spain)
16:15RFC2.4Novel severe skeletal dysplasia with under-mineralisation associated with reduced in utero calcium transport and TRPV6 compound heterozygous variants.
Philippa Bowen (Bristol, UK)
16:20RFC2.5Identification of characteristic neurological complications in infants with Achondroplasia by routine MRI screening.
Harry Dougherty (London, UK)
16:25RFC2.6The novel R211Q POP1 homozygous mutation causes severe short stature but uniquely only subtle skeletal dysplasia.
Maha Abdulhadi-Atwan (Hebron, Palestine)
16:00-16:30Rapid Free Communications 3
Diabetes and Insulin Session 1
Dimitris Mitropoulos
16:00RFC3.1Diagnostics of early atherosclerosis risk in Kids (DEAR-Kids): Retinal vessel analysis in pediatric type 1 diabetes – Retinal arteriolar narrowing caused by high HbA1c.
Michael Wurm (Freiburg, Germany)
16:05RFC3.2Personalized and predictive medicine for pediatric diabetes through a genetic test using next generation sequencing.
Valerie Schwitzgebel (Geneva, Switzerland)
16:10RFC3.3Significant prevalence of severe monogenic immune defects among children with Type 1 diabetes and low T1D-genetic risk score.
Štěpánka Průhová (Prague, Czech Republic)
16:15RFC3.4Functional characterization of a novel KLF11 mutation identified in a family with autoantibody-negative type 1 diabetes.
Kikumi Ushijima (Tokyo, Japan)
16:20RFC3.5Recent secular change in pre- and postnatal growth and adiposity in Infants of Mothers with Gestational Diabetes.
Laurentya Olga (West Suffolk NHS Foundation Trust, Bury St Edmunds, UK)
16:25RFC3.6Treatment adherence and weight loss are key predictors of HbA1c one year after diagnosis of childhood Type 2 Diabetes in UK.
Toby Candler (Cardiff, UK)
16:00-16:30Rapid Free Communications 4
Chair(s):Feyza Darendeliler (Istanbul, Turkey) & Bradley Miller (Minnesota, USA)
GH and IGFs
Nikos Skalkotas
16:00RFC4.1Metabolomic changes in patients with PAPP-A2 deficiency in response to rhIGF1 treatment.
Jesús Argente (Madrid, Spain)
16:05RFC4.2Data mining and computational analysis of human growth hormone gene (GH1) sequence in normal population to identify potential variants with disease-causing effects.
Sonia Verma (Bern, Switzerland)
16:10RFC4.3A deletion encompassing exon 2 of the alsgene: Analysis of a patient with ALS deficiency and his family.
Helena Poggi (Santiago, Chile)
16:15RFC4.4A longitudinal study on miRNAs circulating levels in a cohort of SGA and AGA subjects, evaluated during childhood and young adulthood.
Elena Inzaghi (Rome, Italy)
16:20RFC4.512-Month effects of once-weekly and twice-monthly administration of hybrid Fc-fused human growth hormone, GX-H9, treatment in pediatric with GHD deficiency.
Yun Choi (Seoul, Republic of Korea)
16:25RFC4.6Effect of 2 years of Growth Hormone Treatment on Glucose Tolerance in Adults with Prader-Willi Syndrome.
Layla Damen (Rotterdam, The Netherlands)
16:00-16:30Rapid Free Communications 5
Chair(s):Johnny Deladoey (Gatineau, Canada) & Paul Van Trotsenberg (Amsterdam, The Netherlands)
Thyroid
MC3
16:00RFC5.1Serum levels of the soluble receptor for advanced glycation end productsare reduced in chrildren with Hashimoto's Thyroiditis.
Tommaso Aversa (Messina, Italy)
16:05RFC5.2Analysis of chosen polymorphisms rs7138803 A/G - FAIM2, rs7093069 C/T - IL-2RA, rs5742909 C/T - CTLA-4 in pathogenesis of Hashimoto's thyroiditis in children.
Artur Bossowski (Białystok, Poland)
16:10RFC5.3Incidence and treatment outcome of childhood thyrotoxicosis.
Maria Lodefalk (Örebro, Sweden)
16:15RFC5.4The value of cytological, histological and US examination to determine of management children with nodular goiter.
Alexander Anikiev (Moscow, Russian Federation)
16:20RFC5.5Evidence for a founder effect in Multiple Endocrine Neoplasia 2.
Vassos Neocleous (Nicosia, Cyprus)
16:25RFC5.6DUOX2 Deficiency in Quebec: From Life-threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.
Gabrielle Dufort (Montréal, Canada)
16:30-16:45Refreshment Break, Posters & Exhibition
16:45-17:15Plenary 2.
Chair(s):Mehul T Dattani (London, UK) & George Chrousos (Athens, Greece)
Christos Lambrakis Hall
16:45PL2Oxytocin and the healing power of love
Sue Carter (Indiana, USA)
17:15-18:15Meet The Expert 1
Dimitris Mitropoulos Hall
17:15MTE1.1The role of Radiology in the diagnosis of skeletal dysplasias
17:15-18:15Meet The Expert 2
Nikos Skalkotas Hall
17:15MTE2.1Endocrine complications in Thalassemia
17:15-18:15Meet The Expert 3
Banqueting Hall
17:15MTE3.1Neuro endocrine assessment after a childhood intracranial or suprasellar tumour
17:15-18:15Meet The Expert 4
Alexandra Trianti Hall
17:15MTE4.1The use of modern technologies to optimise diabetes care
Olga Kordonouri (Hannover, Germany)
17:15-18:15Yearbook of Paediatric Endocrinology 1
Chair(s):Juliane Léger (Paris, France)
Christos Lambrakis Hall
YB1.1Thyroid
Gabor Szinnai (Basel, Switzerland)
YB1.2Adrenals
Evangelia Charmandari (Athens, Greece)
YB1.3Obesity and Weight Regulation
Professor Martin Wabitsch (University of Ulm, Germany)
YB1.4Type 2 Diabetes, Metabolic Syndrome and Lipids
Orit Pinhas-Hamiel (Tel Aviv, Israel)
YB1.5Global Health for the Paediatric Endocrinologist
Jean-Pierre Chanoine (Vancouver, Canada)
18:30-20:00Satellite Symposium
Alexandra Trianti Hall
18:30-20:00Satellite Symposium
Nikos Skalkotas Hall
18:30-20:00Satellite Symposium
Dimitris Mitropoulos Hall
20:00-21:30Informal ESPE Networking Event
Exhibition Hall

Friday 28 September 2018

07:30-08:45Registration open
08:00-08:30Plenary 3
Chair(s):Bessie Spiliotis (Patras, Greece) & Martin Wabitsch (Ulm, Germany)
Christos Lambrakis Hall
08:00PL3Clinical and molecular genetics of corticotroph pituitary tumors (Cushing's disease)
Constantine Stratakis (Greece)
08:30-09:30Meet the Expert 1
MC3
08:30MTE1.2The role of Radiology in the diagnosis of skeletal dysplasias
08:30-09:30Meet The Expert 5
Banqueting Hall
08:30MTE5.1Reproductive function in CAH
08:30-09:30Meet The Expert 6
Alexandra Trianti Hall
08:30MTE6.1Management of Hypo & Hypercalcaemia
08:30-09:30Meet The Expert 7
Dimitris Mitropoulos Hall
08:30MTE7.1The management of a child with Prader-Willi syndrome: from infancy to adulthood
08:30-09:30Meet The Expert 8
Nikos Skalkotas Hall
08:30MTE8.1Psychology of childhood diabetes: How to motivate children and families with T1D
Karin Lange (Hannover, Germany)
08:30-09:30Yearbook of Paediatric Endocrinology 2
Chair(s):Olaf Hiort (Lübeck, Germany)
Christos Lambrakis Hall
YB2.1Bone, Growth Plate and Mineral Metabolism
Outimaija Mäkitie (Helsinki, Finland)
YB2.2Growth and Growth Factors
Stefano Cianfarani (University of Rome Tor Vergata, Rome, Italy)
YB2.3Pituitary and Neuroendocrinology
Nicolas de Roux (Paris, France)
YB2.4Puberty
Anne-Simone Parent (Liège, Belgium)
YB2.5Antenatal and Neonatal Endocrinology
Khalid Hussain (Sidra Medicine, Doha, Qatar)
09:30-11:00ERN: The concept and scope of Endo-ERN
Chair(s):Mehul T Dattani (London, UK) & Peter Clayton (Manchester, UK)
Dimitris Mitropoulos Hall
09:30ERN1.1Introduction: The concept and scope of Endo-ERN
09:55ERN1.2Patient advocacy in Endo-ERN: Adrenal
Johan Beun ('t Harde, The Netherlands)
10:05ERN1.3Patient advocacy in Endo-ERN:Men-1 and pituitary adenomas in childhood
Jo Grey (Association for Multiple Endocrine Neoplasia Disorders, Southborough, UK)
10:25ERN1.4CAH Transition: Optimisation
Nicole Reisch (Munich, Germany)
10:45ERN1.5EuRRECa - European Registries For Rare Endocrine Conditions
Faisal Ahmed (Glasgow, United Kingdom)
09:30-10:30Free Communications 6
Chair(s):Elpida Viapapadopoulou (Athens, Greece) & Claude Marcus (Stockholm, Sweden)
Fat, metabolism and obesity
Nikos Skalkotas
09:30FC6.1Correlations between measures of adiposity across childhood and adolescence and the intestinal microbiota in 15-17 year-old children with a family history of obesity: preliminary findings from the QUALITY cohort.
Mélanie Henderson (Montréal, Canada)
09:40FC6.2Impaired Brain Satiety Responses to a Meal in Children with Obesity.
Christian Roth (Seattle, USA)
09:50FC6.3Role of PTEN in the proliferation and differentiation of preadipocytes.
Anna Kirstein (Leipzig, Germany)
10:00FC6.4Identification of the first obesity-associated mutations in human mesoderm-specific transcript (MEST) result in protein overexpression, adipocyte hypertrophy and a reduction in adipocyte mitochondrial area.
Jesús Argente (Madrid, Spain)
10:10FC6.5The role of adipocytes in childhood precursor Bcell lymphoblastic leukemia.
Elena Brenner (Ulm, Germany)
10:20FC6.6MicroRNA-141 directly targets and inhibits sirtuins 1 gene expression and its elevation in obese subjects is responsible for reduced levels of sirtuin1 and the subsequent hepatic steatosis and insulin resistance.
Mitra Nourbakhsh (Tehran, Iran)
09:30-10:30Free Communications 7
Chair(s):Indi Banerjee (Manchester, UK) & Michel Polak (Paris, France)
Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia)
MC3
09:30FC7.1Expression and localisation of insulin, glucagon, amylin, pancreatic polypeptide and PDX-1 in pancreatic tissue of children with congenital hyperinsulinism.
Maria Güemes (Madrid, Spain)
09:40FC7.2Enteroinsular hormone responses during Fasting, Oral Glucose Tolerance Test and Mixed Meal in children with hyperinsulinaemic hypoglycaemia.
Maria Güemes (Madrid, Spain)
09:50FC7.3Diazoxide-induced pulmonary hypertension: UK multicentre retrospective study on the risk factors, monitoring approach and management recommendations.
Suet Ching Chen, MD (Glasgow, UK)
10:00FC7.4Altered substrate specificities and metabolite production by aromatase (CYP19A1) due to the R192H mutation.
Sameer Udhane (Bern, Switzerland)
10:10FC7.5Thyroid hormone levels in cord blood are associated with fetal and neonatal growth.
Malene Hansen (Copenhagen, Denmark)
10:20FC7.6TSH-resistance and remaining low-T4 in former low-birthweight infants – a study in monozygotic twins with intra-twin birth-weight-differences.
Sandra Schulte (Bonn, Germany)
09:30-10:30Free Communications 8
Chair(s):Paul-Martin Holterhuis (Kiel, Germany) & Ken McElreavey (Paris, France)
Sex differentiation, gonads and gynaecology or sex endocrinology
Christos Lambrakis Hall
09:30FC8.1Estrogen Receptor 2 Variant as a Novel Cause for Dysgenetic Ovaries.
Patrick Sproll (Fribourg, Switzerland)
09:40FC8.2Partial restoration of biological effects of estrogen in a female with estrogen receptor α variant.
Eva Feigerlova (Nancy, France)
09:50FC8.3Exomic sequencing uncovers novel genetic associations for Deciphering Developmental Disorders (DDD) Study participants with hypospadias, cardiovascular and neurodevelopmental abnormalities.
Gabriella Gazdagh (Glasgow, UK)
10:00FC8.4STARD8, a novel candidate gene for 46,XY disorders of sex development.
Ivan Mercadé (Fribourg, Switzerland)
10:10FC8.5DEAH-box helicase 37defects (DXH37) deffects are a Novel Cause of 46,XY Gonadal Dysgenesis.
Nathalia Gomes (Sao Paulo, Brazil)
10:20FC8.6The roles of steroids in gonadal development and maintenance – insights from a zebrafish model of androgen and cortisol deficiency.
James Oakes (Sheffield, United Kingdom)
09:30-10:30Free Communications 9
Chair(s):Ivo Jorge Arnhold (São Paulo, Brazil) & Ron Rosenfeld (Oregon, USA)
Pituitary, neuroendocrinology and puberty 1
Banqueting Hall
09:30FC9.1Novel variants in the POU1F1 beta isoform are associated with isolated growth hormone deficiency and combined pituitary hormone deficiency.
Julia Hoppmann (Leipzig, Germany)
09:40FC9.2Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients.
Enzo Cohen (Paris, France)
09:50FC9.3Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis.
Louise Gregory (London, UK)
10:00FC9.4Neuroendocrine Morbidity after Paediatric Craniopharyngioma: A Longitudinal Single Centre Analysis of 93 Patients Over 30 Years.
Shiraz Dehalvi (London, UK)
10:10FC9.5National multidisciplinary decision-making guideline for children and young people (<19 years) with idiopathic thickened pituitary stalk and/or idiopathic central diabetes insipidus.
Manuela Cerbone (London, UK)
10:20FC9.6National UK Guidelines For Screening, Multi-Disciplinary team Management And Long-Term Follow-Up Of Children and Young People (CYP) with Multiple Endocrine Neoplasia Type 1 (MEN1).
Elizabeth Crowne (Bristol, UK)
09:30-11:00Free Communications 10
Chair(s):Leo Dunkel (London, UK) & Pratik Shah (London, UK)
Late Breaking
Alexandra Trianti Hall
09:30FC10.1Burosumab Improved Rickets, Phosphate Metabolism, and Clinical Outcomes Compared to Conventional Therapy in Children with X-Linked Hypophosphatemia (XLH) – A Randomized Controlled Phase 3 Study
Ola Nilsson (Örebro University Hospital​, Stockholm, Sweden)
09:40FC10.2Efficacy and safety of once-weekly somapacitan in childhood growth hormone deficiency: results of a randomised open-label, controlled phase 2 trial
Lars Sävendal (Stockholm, Sweden)
09:50FC10.3Identification of the MAPK/ERK pathway as a novel therapeutic target in adamantinomatous craniopharyngioma
Romain Guiho (London, UK)
10:00FC10.4Hypothalamus sparing surgery improves the outcome of patients with severe initial hypothalamic involvement of childhood craniopharyngioma: Results of the Prospective Multinational Trial KRANIOPHARYNGEOM 2007
Agnieszka Bogusz (Warsaw, Poland)
10:10FC10.5A 5-year single-centre experience on the safety and efficacy of Sirolimus therapy used for the treatment of congenital hyperinsulinaemic hypoglycaemia
Maria Güemes (Madrid, Spain)
10:20FC10.6Primary ovarian insufficiency incidence rate and etiology among Israeli adolescents between the years 2000-2016 – A multi-center study
Noah Gruber (Ramat Gan, Israel)
10:30RFC10.1Patients with GH Insensitivity and IGF-1 Resistance Harbour Copy Number Variants Causing a Silver-Russell-Like Phenotype
Emily Cottrell (London, UK)
10:35RFC10.2Non-inferiority clinical trial on gonadotropinversus pulsatile gonadotropin-releasing hormone infusion therapy in male adolescent patient withcongenital hypogonadotropic hypogonadism
Ying Liu (Beijing, China)
10:40RFC10.3Developmental regulation of obestatin and adropin in Prader-Willi syndrome and non-syndromic obesity: associations with weight, BMI-z, HOMA-IR, and lipid profile
Andrea Haqq (Edmonton, Canada)
10:45RFC10.4Comparative analysis between immunoassay and tandem mass spectrometry for androgens before and after human recombinant gonadotrophin in children with genital ambiguity and 46,XY karyotype
Letica Oliveria (Campinas, Brazil)
10:50RFC10.5Effects of birth weight on profiles of dried bloodamino-acids and acylcarnitines
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10:55RFC10.6Effect of the current treatment of X-Linked Hypophosphatemia during growth on the development of osteoarticular lesions in the Hyp mouse model
Axelle Cauliez (Paris, France)
10:30-11:00Rapid Free Communications 6
Chair(s):Elpida Viapapadopoulou (Athens, Greece) & & Claude Marcus (Stockholm, Sweden)
Fat, metabolism and obesity
Nikos Skalkotas
10:30RFC6.1Allelic variation in key fitness genes is linked with increased severity of obesity in overweight/obese youth.
Christoph Saner (Parkville, Australia)
10:35RFC6.2IGF-I at four months associates to visceral and subcutaneous adipose tissue at 7 years of age.
Emma Kjellberg (Gothenburg, Sweden)
10:40RFC6.3Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome.
Fred Fiedorek (Boston, USA)
10:45RFC6.4Functionality and phenotypic characteristics of mutations in the human leptin receptor.
Adriana Nunziata (Ulm, Germany)
10:50RFC6.5High-throughput untargeted plasma metabolomics unravels gender dimorphic metabolic trajectories in naturally conceived and ICSI prepubertal children.
Alexandra Gkourogianni (Athens, Greece)
10:55RFC6.6Effects of Cherry's extract on increased osteclastogenesis in obese children.
Maria Faienza (Bari, Italy)
10:30-11:00Rapid Free Communications 7
Chair(s):Indi Banerjee (Manchester, UK) & Pratik Shah (London, UK)
Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia)
MC3
10:30RFC7.1Next generation sequencing results in 142 patients with congenital hyperinsulinism.
Diliara Gubaeva (Moscow, Russian Federation)
10:35RFC7.2Outcomes of a quality improvement project integrating Continuous Glucose Monitoring Systems into the routine management of neonatal hypoglycaemia.
Sinead McGlacken-Byrne (London, United Kingdom)
10:40RFC7.3Central venous cathether-associated thrombosis in children with congenital hyperinsulinism.
Daphne Yau (Manchester, UK)
10:45RFC7.4Expression of MIR-576-5p in umbilical cord as a novel biomarker for the identification of catch-up growth in small-for-gestational-age infants.
Abel Lopez-Bermejo (Girona, Spain)
10:50RFC7.5Alteration of Renal Corticosteroid Signaling Pathways in Preterm Infants: Neonatal Adaptation and Developmental Programming of Hypertension.
Laurence Dumeige (France)
10:55RFC7.6Assessment of Pituitary Stalk Anatomy by T2 DRIVE without Gadolinium in Pituitary Diseases.
Flavia Napoli (Genoa, Italy)
10:30-11:00Rapid Free Communications 8
Chair(s):Paul-Martin Holterhuis (Kiel, Germany)
Sex differentiation, gonads and gynaecology or sex endocrinology
Christos Lambrakis Hall
10:30RFC8.1Male fertility genes located in Y-chromosomal regions display differential mRNA profiles in response to GnRH treatment of cryptorchidism-dependent infertility.
Faruk Hadziselimovic (Liestal, Switzerland)
10:35RFC8.2High Mobility Group Box 1 (HMGB1) is increased in adolescents with Polycystic Ovarian Syndrome (PCOS) and decreases after treatment with myo-inositol in combination with α-lipoic acid (MYO+ALA).
Francesca Cirillo (Reggio Emilia, Italy)
10:40RFC8.3Pharmacological treatment of adolescent Polycystic Ovary Syndrome (PCOS) according to the 2018 International Evidence-Based Guideline for the Assessment and Management of PCOS.
Alexia Pena (Adelaide, Australia)
10:45RFC8.4Establishing age, sex, and method related reference ranges for anogenital distance - a marker of in utero androgen action.
Marie Ljubicic (Presented by Ewa Rajpert-De Meyts))
10:50RFC8.5Latest progress in tissue engineered urethral regeneration. From rabbit to dog, a step from human clinical trial for surgical treatment of VSD (Variation of Sex Development).
Kalitha Pinnagoda (Lausanne, Switzerland)
10:55RFC8.6Metabolic profile of young adult transgender persons who started gender affirming treatment in their adolescence.
Daniel Klink (Amsterdam, The Netherlands)
10:30-11:00Rapid Free Communications 9
Chair(s):Ivo Jorge Arnhold (São Paulo, Brazil) & Ron Rosenfeld (Oregon, USA)
Pituitary, neuroendocrinology and puberty 1
Banqueting Hall
10:30RFC9.1Clinical and genetic features of central precocious puberty associated with complex phenotypes.
Ana Canton (São Paulo, Brazil)
10:35RFC9.2Novel variant in GNRHR gene regulatory region in a pedigree with maternally inherited precocious puberty.
Magdalena Stefanija (University Medical Centre Ljubljana, Ljubljana, Slovenia)
10:40RFC9.3What is the best parameter to decide the initial dose of depot leuprolide acetate in girls with idiopathic central precocious puberty?
Dogus Vuralli (Ankara, Turkey)
10:45RFC9.4REplacement of MAle mini-Puberty in neonates and children with micropenis and cryptorchidism due to hypogonadotropic hypogonadism. Results of the “REMAP” study ISRCTN13007297.
Dimitrios Papadimitriou (Athens, Greece)
10:50RFC9.5Non-isolated central precocious puberty: prevalence of brain lesions and other associated disorders.
Selmen Wannes (Paris, France)
10:55RFC9.6Can neuroimagine predict endocrine morbidity in congenital hypothalamo-pituitary (H-P) disorders?
Manuela Cerbone (London, UK)
11:00-11:30Refreshment Break, Posters & Exhibition
11:30-12:00ESPE AWARDS
Chair(s):Agnès Linglart (Paris, France)
ESPE Research Award
Supported by Pfizer
12:00-12:30Plenary 4
Chair(s):Francesco Chiarelli (Chieti, Italy) & Moshe Phillip (Petah Tikva, Israel)
Christos Lambrakis Hall
12:00PL4Prediction, Identification, and Treatment of Early Stage Type 1 Diabetes
Anette-Gabriele Ziegler (Munich, Germany)
12:30-13:00ESPE AWARDS
Chair(s):Evangelia Charmandari (Athens, Greece)
ESPE Hormone Research in Paediatrics Prizes; IFCAH-ESPE award; ESPE Outstanding Clinician Award; ESPE International Outstanding Clinician Award
Supported by S. Karger AG & the International Fund for Research on Congenital Adrenal Hyperplasia
13:00-14:30Lunch, Posters & Exhibition
14:30-16:00Symposium 4
Chair(s):Maria Karantza (Athens, Greece) & Rasa Verkauskiene (Kaunas, Lithuania)
Management of late effects of cancer therapy
Banqueting Hall
S4.1Late reproductive sequelae following treatment of childhood cancer and options for fertility in females
Hamish Wallace (Edinburgh, UK)
S4.2Diagnosis and Treatment of Hypogonadism in girls after cancer therapy
Charles Sklar (New York, USA)
S4.3Diagnosis and Treatment of Hypogonadism in boys after cancer therapy
Wassim Chemaitilly (Pittsburgh, USA)
14:30-16:00Symposium 5
Chair(s):Zdeněk Šumník (Prague, Czech Republic) & Assimina Galli-Tsinopolou (Thessaloniki, Greece)
ISPAD - ESPE Preventing late complications in children with T1D
Christos Lambrakis Hall
S5.1Prognosis of diabetic children today: Global perspective
Hendrik Veeze (Rotterdam, The Netherlands)
S5.2Re-defining targets for optimal T1D control
Ragnar Hanås (Udevalla, Sweden)
S5.3Beta cell replacement therapy
Paul Johnson (Oxford, UK)
14:30-16:00Symposium 6
Chair(s):Nils Krone (Sheffield, UK) & Christa Flück (Bern, Switzerland)
Molecular mechanisms of tissue sensitivity to glucocorticoids: potential clinical implications
Dimitris Mitropoulos Hall
S6.1The biology of the glucocorticoid receptor: new signaling mechanisms in health and disease
John Cidlowski (North Carolina, USA)
S6.2Immune regulation by glucocortcoids
David Ray (University of Oxford, Manchester, UK)
S6.3Circadian regulation of glucocorticoid secretion
Tomoshige Kino (Doha, Qatar)
14:30-16:30ESPE Working Group on European Society of Paediatric Endocrine Nurses (ESPEN)
Chair(s):Liesbeth Lambrechts (Utrecht, The Netherlands) & Kate Davies (London, UK)
Paediatric Endocrine Nursing Competencies
MC3
WG7.1Advanced anthropometry in GH-treated patients
Jean Schepper (Ghent, Belgium)
WG7.2Next generation nursing: Genomic competencies for pediatric endocrine nurses
WG7.3Managing Adrenal Insufficiency
Johan Beun ('t Harde, The Netherlands)
14:30-16:00Controversy 2
Chair(s):Jan-Maarten Wit (Leiden, The Netherlands)
To prime or not to prime?
Alexandra Trianti Hall
14:30CON2.1PRO - To prime or not to prime?
Ola Nilsson (Örebro University Hospital​, Stockholm, Sweden)
15:15CON2.2CON - To prime or not to prime?
Alan Rogol (Virginia, USA)
14:30-16:00Novel Advances 1
Chair(s):Nicolas de Roux (Paris, France)
The clinical relevance of metabolomics; genomic engineering - CRISP-R/Cas9 and its many applications
Nikos Skalkotas Hall
NA1.1The clinical relevance of metabolomics
Maria Klapa (Patras, Greece)
NA1.2The relevance of genomic engineering – to include CRISP-R
Sally Camper (Michigan, USA)
16:00-16:30Plenary 5
Chair(s):Evangelia Charmandari (Athens, Greece) & Constantine Stratakis (Rockville, USA)
Christos Lambrakis Hall
PL5Dynamic control of tissue glucocorticoids – lessons for optimising replacement therapy
Brian Walker (Edinburgh, UK)
16:30-17:00Refreshment Break, Posters & Exhibition
17:00-18:30Satellite Symposia
Alexandra Trianti Hall
17:00-18:30Satellite Symposia
Banqueting Hall
17:00-18:30Satellite Symposia
Dimitris Mitropoulos Hall
18:30-20:00ESPE Business Meeting
Banqueting Hall

Saturday 29 September 2018

07:30-08:45Registration
08:00-09:00Meet The Expert 2
MC3
MTE2.2Endocrine complications in Thalassemia
08:00-09:00Meet the Expert 3
Banqueting Hall
MTE3.2Neuro endocrine assessment after a childhood intracranial or suprasellar tumour
08:00-09:00Meet The Expert 5
Alexandra Trianti Hall
MTE5.2Reproductive function in CAH
08:00-09:00Meet The Expert 6
Dimitris Mitropoulos Hall
08:00MTE6.2Management of Hypo & Hypercalcaemia
08:00-09:00Yearbook of Paediatric Endocrinology 3
Chair(s):Sandro Loche (Cagliari, Sardinia, Italy)
Christos Lambrakis Hall
YB3.1Editor's Choice
Ken Ong (Cambridge, United Kingdom)
YB3.2Gender dysphoria and Disorders of Sex Development
Olle Söder (Stockholm, Sweden)
YB3.3Type 1 Diabetes
Wieland Kiess (Hospital for Children and Adolescence, University of Leipzig, Leipzig, Germany)
YB3.4Oncology and Chronic Disease
Carla Bizzarri (Rome, Italy)
YB3.5The Year in Science & Medicine
Ze'ev Hochberg (Haifa, Isreal))
08:00-08:45Satellite Symposia
Nikos Skalkotas Hall
09:00-10:00Free Communications 11
Chair(s):Dionysios Chrysis (Rio, Greece) & Evelien Gevers (London, UK)
Bone, growth plate and mineral metabolism 2
Christos Lambrakis Hall
09:00FC11.1Successful immune tolerance induction in the first case of neutralizing antibody mediated loss of efficacy of asfotase alfa treatment in hypophosphatasia.
Gabriel Martos-Moreno (Madrid, Spain)
09:10FC11.2Elevated phosphate levels inhibit skeletal muscle cell differentiation in vitro.
Adalbert Raimann (Vienna, Austria)
09:20FC11.3Evidence for effects of FGF2 aptamer in an achondroplasia mice model and an in vitrochondrocyte differentiation system using patient-derived iPS cells.
Keiichi Ozono (Suita, Japan)
09:30FC11.4Using patient derived induced pluripotent stem cells to model multiple epiphyseal dysplasia.
Steven Woods (Manchester, UK)
09:40FC11.5A recurrent 6-bp intronic deletion in NESP55 with reduced penetrance in pseudohypoparathyroidism type 1b.
Dong Li (Philadelphia, USA)
09:50FC11.6Management of severe, protracted hypocalcaemia in patients undergoing thymus transplantation in a tertiary centre: a 10-year experience.
Nicole Goff (London, UK)
09:00-10:00Free Communications 12
Chair(s):Fergus Cameron (Victoria, Australia) & Maria Papagianni (Thessaloniki, Greece)
Diabetes and Insulin 2
Banqueting Hall
09:00FC12.1Continuous Glucose Monitoring Profiles in Healthy Non-Diabetic Children and Adolescents: A Multicenter Prospective Study.
Stephanie DuBose (Tampa, USA)
09:10FC12.2Apoptosis and oxidative stress markers during the Oral Glucose Tolerance Test (OGTT).
Maria Katsa (Sparta, Greece)
09:20FC12.3Impact of insulin sensitivity and β-cell function on the development of impaired glucose tolerance (IGT) in obese European children and adolescents.
Christian Denzer (Ulm, Germany)
09:30FC12.4How does thiol/disulphide homeostasis change in children with type 1 diabetesmellitus?
Nursel Sahin (Ankara, Turkey)
09:40FC12.5Effect of Homocysteine-Lowering Therapy on Diabetic Nephropathy in Children and Adolescents with Type 1 Diabetes.
Nancy Elbarbary (Cairo, Egypt)
09:50FC12.6Persistent beneficial effects of metformin in children and adolescents with type 1 diabetes: Adelaide metformin randomized controlled trial follow up.
Alexia Peña (North Adelaide, Australia)
09:00-10:00Free Communications 13
Chair(s):Ana Claudia Latronico (São Paulo, Brazil) & Taneli Raivio (Helsinki, Finland)
Pituitary, neuroendocrinology and puberty 2
Dimitris Mitropoulos
09:00FC13.1Molecular screening of genes associated with central precocious puberty.
Pavlos Fanis (Nicosia, Cyprus)
09:10FC13.2Ablation of AgRP Neurons Decreases Survival In Activity-Based Anorexia Model.
Maria Consolata Miletta (New Haven, USA)
09:20FC13.3Role of GnRH neuronal migration and development in Self-Limited Delayed Puberty.
Sasha Howard (Queen Mary University of London and Barts Health NHS Trust, London, UK)
09:30FC13.4The Kallman syndrome gene product is specifically expressed in ACTH-expressing cells and dysplays sexual dimorphism expression in human fetal pituitary.
Nicolas de Roux (Paris, France)
09:40FC13.5Study of the serum kisspeptin level in healthy and hypogonadotropic boys.
Irina Nikitina (Saint-Petersburg, Russian Federation)
09:50FC13.6Teamwork saves lives: how pediatric multidisciplinary care can prevent ‘unexplained deaths’ in adults with Prader-Willi syndrome.
Kirsten Davidse (Rotterdam, The Netherlands)
09:00-10:00Free Communications 14
Chair(s):Stefan Riedl (Vienna, Austria) & Nicos Skordis (Nicosia, Cyprus)
Multisystem endocrine disorders
MC3
09:00FC14.1Awareness & Participation In Rare Disease Registries Within The European Reference Network On Rare Endocrine Conditions (Endo-ERN).
Salma Ali (Glasgow, UK)
09:10FC14.2National UK guidelines for the clinical assessment, diagnosis, treatment and follow-up of children and young people (CYP) under 19 years of age with phaeochromocytoma (PCC) and paraganglioma (PGL) - On behalf of the UK Paediatric Phaeochromocytoma and Paraganglioma Guideline Development Group (GDG).
Harshini Katugampola (London, UK)
09:20FC14.3Regulation of Salt, Sugar and Sex Steroids in Humans by Genetic Variations in NADPH Cytochrome P450 Oxidoreductase (POR) identified in 1000 genome samples.
Amit Av (Bern, Switzerland)
09:30FC14.4Glucocorticoid deficiency causes differentially dysregulated oxidative stress depending on the steroidogenic defects.
Nan Li (Sheffield, UK)
09:40FC14.5Pubertal females produce an enhanced interferon-alpha, anti-viral response compared to males, which is associated with X chromosome number, and not sex hormones.
Kate Webb (London, UK)
09:50FC14.6Sex differences in autoimmune disease: testosterone is associated with a decrease in expression of key anti-viral genes during puberty, which may decrease the risk of autoimmunity in males.
Kate Webb (London, UK)
09:00-10:00Free Communications 15
Chair(s):Wolfgang Högler (Birmingham, UK) and Philippe Backeljauw (Ohio, USA)
Growth and syndromes (to include Turner syndrome)
Nikos Skalkotas Hall
09:00FC15.1The diagnostic yield of a targeted next generation sequencing panel in children with short stature of undefined aetiology.
Reena Perchard (University of Manchester, Manchester, UK)
09:10FC15.2Effects of caloric restriction during gestation on the methylome of offspring's adipose tissue and reversibility of such effects by metformin in a swine model.
Abel Lopez-Bermejo (Girona, Spain)
09:20FC15.3Methylation of the C19MC microrna locus in the placenta: A mechanism whereby maternal body size links to that of the child.
Abel Lopez-Bermejo (Girona, Spain)
09:30FC15.4The metabolic profile associated with RASopathies.
Renata Noronha (São Paulo, Brazil)
09:40FC15.5Utility of BDNF and MMP-1 as markers of cardiometabolic risk in Turner syndrome girls.
Ewa Błaszczyk (Katowice, Poland)
09:50FC15.6Vosoritide for Children with Achondroplasia: A 30 Month Update from an Ongoing Phase 2 Clinical Trial.
Melita Irving (London, UK)
09:00-10:00How Do I...
Chair(s):Alan Rogol (Charlottesville, USA)
Session 2
Alexandra Trianti Hall
09:00HDI2.1...Manage a child with a thickened pituitary stalk
Mohamad Maghnie (Genoa, Italy)
09:20HDI2.2...Manage a child with physical disabilities who has a low bone mineral density
Margaret Zacharin (Melbourne, Australia)
09:40HDI2.3...Investigate a clinically euthyroid child with a thyroid nodule
Marek Niedziela (Poznań, Poland)
10:00-10:30Rapid Free Communications 11
Chair(s):Dionysios Chrysis (Rio, Greece) & Evelien Gevers (London, UK)
Bone, growth plate and mineral metabolism 2
Christos Lambrakis Hall
10:00RFC11.1Diagnosis and management of pseudohypoparathyroidism and related disorders: First international consensus statement.
Susanne Thiele (Lübeck, Germany)
10:05RFC11.2Nationwide hypophyosphatemic rickets study.
Zeynepb Siklar (Ankara, Turkey)
10:10RFC11.3Increased levels of bone formation and resorption markers in patients with hypophosphatemic rickets.
Signe Beck-Nielsen (Kolding, Denmark)
10:15RFC11.4A new form of Anhidrotic Ectodermal Dysplasia with Immunodeficiency caused by abolished Store-Operated Ca2+ Entry.
Mario Cuk (Zagreb, Croatia)
10:20RFC11.5The Determinants Of Skeletal Fragility In Children With Type 1 Diabetes Mellitus.
Suet Ching Chen, MD (Glasgow, UK)
10:25RFC11.6Reference Values of Automated Bone Age and Bone Health Index for Mexican children and adolescents.
América Lora (Mexico City, Mexico)
10:00-10:30Rapid Free Communications 12
Chair(s):Reinhard Holl (Ulm, Germany) & Maria Papagianni (Thessaloniki, Greece)
Diabetes and Insulin Session 2
Banqueting Hall
10:00RFC12.1Use of acid-suppressive medications during infancy and early childhood and its association with type 1 diabetes.
Sruthi Menon (Cleveland, USA)
10:05RFC12.2Bone mineral density is increased in 276 Danish children and adolescents with Type-1-Diabetes.
Jens Madsen (Herlev, Denmark)
10:10RFC12.3Barriers and sources of support for the performance of physical activity inpediatric type 1 diabetes.
Michal Cohen (Haifa, Israel)
10:15RFC12.4Use of telemonitoring via a mobile device app reduces HbA1c in type 1 diabetic children and adolescents.
Philippe Klee (Geneva, Switzerland)
10:20RFC12.5Insulin gene promoter methylation status in Greek children and adolescents with Type 1 Diabetes.
Konstantina Mouzaki (Thessaloniki, Greece)
10:25RFC12.6AMGLIDIA, a suspension of glibenclamide for patients with neonatal diabetes, long term data on efficiency and tolerance.
Jacques Beltrand (Paris, France))
10:00-10:30Rapid Free Communications 13
Chair(s):Ana Claudia Latronico (São Paulo, Brazil) & Taneli Raivio (Helsinki, Finland)
Pituitary, neuroendocrinology and puberty 2
Dimitris Mitropoulos
10:00RFC13.1Risk of long-term endocrine sequelae in survivors of progressing childhood optic pathway glioma (OPG) treated by upfront chemotherapy. Preliminary analyses of 102 subjects from the French multicentric BB-SFOP registry.
Regis Coutant (Angers, France)
10:05RFC13.2Growth outcomes and near adult height of children with congenital GH deficiency (GHD) due to abnormal pituitary development: data from a prospective, multinational observational study.
Christopher Child (Surrey, UK)
10:10RFC13.3Circulating MKRN3, Kisspeptin and IGF-1 levels in girls during the clinical onset of puberty.
Lixue Ouyang (Chengdu, China)
10:15RFC13.4Gain in predicted adult height using the combination of an LHRH analogue and an aromatase inhibitor in early maturing girls with compromised growth for 2 yrs or until the age of 11 is maintained and further improved by aromatase inhibitor monotherapy. Results on final height of the “GAIL” study ISRCTN11469487.
Dimitrios Papadimitriou (Athens, Greece)
10:20RFC13.5Pubertal voice break: Temporal relation of secondary sexual characteristics in healthy boys.
Alexander Busch (Copenhagen, Denmark)
10:25RFC13.6Close correlation between salivary and blood steroids in normal boys: Salivary testosterone best characterizes male puberty.
Karl Schwab (Freiburg, Germany)
10:00-10:30Rapid Free Communications 14
Chair(s):Stefan Riedl (Vienna, Austria) & Nicos Skordis (Nicosia, Cyprus)
Multisystem endocrine disorders
MC3
10:00RFC14.1Psychometric and Psycho-social Profile of Children and Adolescent Survivors of Pediatric Cancer.
Flora Bacopoulou (Athens, Greece)
10:05RFC14.2British Society for Paediatric Endocrinology and Diabetes peer review of specialised paediatric endocrinology services in the UK - Evaluation of the outcomes.
Joihn Schulga (London, UK)
10:10RFC14.3Dysregulated glucose homeostasis in Congenital Central Hypoventilation Syndrome.
Yassmin Musthaffa (South Brisbane, Australia)
10:15RFC14.4A novel germline DICER1 mutation in a girl with multinodular goiter and ovarian Sertoli-Leydig cell tumor.
Nikolaos Settas (Bethesda, USA)
10:20RFC14.5Natural course of MEN type 2B syndrome; a Dutch single-center cohort.
Annemarie Verrijn Stuart (Utrecht, The Netherlands)
10:25RFC14.6Identification of epithelial sodium channel (ENaC) in endometrial pipelle biopsy samples.
Aaron Hanukoglu (Holon, Israel)
10:00-10:30Rapid Free Communications 15
Chair(s):Wolfgang Högler (Birmingham, UK)
Growth and syndromes (to include Turner syndrome)
Nikos Skalkotas Hall
10:00RFC15.1Diagnosis of Silver-Russell syndrome in patients with chromosome 14q32.2 imprinted region disruption: phenotypic and molecular analysis.
Eloïse Giabicani (Paris, France)
10:05RFC15.2Molecular and clinical analyses of two UPD(16)mat patients detected by screening of 94 Silver-Russell syndrome patients without known etiology.
Takanobu Inoue (Tokyo, Japan)
10:10RFC15.3Multiple pituitary hormone deficiencies and early onset obesity in two siblings with a mutation in the MAGEL2-gene.Evidence for an important regulatory function of the MAGEL2-gene in the hypothalamic-pituitary hormone pathways.
Ursula Kuhnle-Krahl (Munich, Germany)
10:15RFC15.4Characteristics, effectiveness and safety data from clinically relevant subgroups of patients with severeprimary IGF-I deficiency (SPIGFD): results from the European Increlex® Growth Forum Database (EU-IGFD) registry.
Joachim Wölfle, MD (Erlangen, Germany)
10:20RFC15.5Effect of Adjusting for Tanner Stage Age on Short and Tall Stature Prevalence in US Youths.
Bradley Miller (Minneapolis, USA)
10:25RFC15.6Latest results from PATRO Children, a multi-centre, non-interventional study of the long-term safety and efficacy of Omnitrope® in children requiring growth hormone treatment.
Shankar Kanumakala (Brighton)
10:30-11:00Refreshment Break, Posters & Exhibition
11:00-11:30Plenary 6
Chair(s):Jesús Argente (Madrid, Spain) & Tsutoma Ogata (Tokyo, Japan)
Christos Lambrakis Hall
PL6Personalized treatments using gut microbiome and clinical data
Eran Segal (Rehovot, Israel)
11:30-12:00ESPE AWARDS
Chair(s):Peter Clayton (Manchester, UK)
Andrea Prader Prize
Supported by Pfizer
Christos Lambrakis Hall
12:00-12:30Plenary 7
Chair(s):Carlo Acerini (Cambridge, UK) & David Dunger (Cambridge, UK)
Christos Lambrakis Hall
PL7New curative treatment strategies for Type 1 diabetes
Stefan Bornstein (Dresden, Germany)
12:30-14:00Lunch, Posters & Exhibition
12:45-13:45Satellite Symposia
13:45-14:45ESPE AWARDS
Chair(s):Eirini Kostopoulou (Athens, Greece) & Rodolfo Rey (Buenos Aires, Argentina)
Young Investigators Session
Supported by Pfizer
Christos Lambrakis Hall
YI1.1Cellular reprogramming to understand Cell fate Choice During Human Sex-Determination
Anu Bashamboo (Paris, France)
YI1.2Adipokines and genetic markers of childhood obesity and insulin resistance
Juraj Stanik (Biomedical Research Center SAS, Bratislava, Slovakia)
YI1.3A qualitative study investigating family concerns of girls with CAH born with virilisation managed with and without surgery
Elizabeth Crowne (Bristol, UK)
14:00-15:00Novel Advances 2
Chair(s):Wieland Kiess (Leipzig, Germany)
Cell engineering for treatment of diabetes
Nikos Skalkotas Hall
NA2.1Stem cells as a source of beta cells
Henryk Zulewski (Basel, Switzerland)
NA2.2Regenerating beta cells
Patrick Collombat (Nice, France)
14:00-15:00Meet The Expert 4
Alexandra Trianti Hall
MTE4.2The use of modern technologies to optimise diabetes care
Olga Kordonouri (Hannover, Germany)
14:00-15:00Meet The Expert 7
Banqueting Hall
14:00MTE7.2The management of a child with Prader-Willi syndrome: from infancy to adulthood
14:00-15:00Meet The Expert 8
Dimitris Mitropoulos Hall
14:00MTE8.2Psychology of childhood diabetes: How to motivate children and families with T1D
Karin Lange (Hannover, Germany)
14:45-15:30ESPE Activities
Chair(s):Faisal Ahmed (Glasgow, UK) & Rasa Verkauskiene (Kaunas, Lithuania)
How can ESPE help shape my career?
Christos Lambrakis Hall
AC1.1The ESPE roadmap to a career in academic paediatric endocrinology
Faisal Ahmed (Glasgow, United Kingdom)
AC1.2Grants and Fellowships for Scientific Development
Faisal Ahmed (Glasgow, United Kingdom)
AC1.3ESPE Schools: An interactive learning environment
Rasa Verkauskiene (Kaunas, Lithuania)
AC1.4Clinical Fellowship: Specialised training opportunities in Paediatric Endocrinology
Violeta Iotova (Varna, Bulgaria)
AC1.5PETCA: A graduate’s experience
Ieuan Hughes (Cambridge, UK)
15:00-15:30Refreshment Break, Posters & Exhibition
15:30-17:00Symposium 7
Chair(s):Dov Tiosano (Haifa, Israel) & Faisal Ahmed (Glasgow, UK)
Bone Symposium
Banqueting Hall
15:30S7.1X-linked Hypophosphataemic Rickets: Disease and Treatment
Agnes Linglart (Paris, France)
16:00S7.2Hypophosphatasia: Disease and Treatment
Nick Bishop (Sheffield, UK)
16:30S7.3Achondroplasia-New hopes
Melita Irving (London, UK)
15:30-17:00Symposium 8
Chair(s):Heiko Krude (Berlin, Germany) & Catherine Dacou-Voutetakis (Athens, Greece)
Thyroid disorders
Christos Lambrakis Hall
15:30S8.1Thyroid hormone transporter defects
Edward Visser (Rotterdam, The Netherlands)
16:00S8.2Central Hypothyroidism – an Update
Paul Trotsenburg (Amsterdam, The Netherlands)
16:30S8.3Paediatric differentiated thyroid cancer: outcome and long term effects
Thera Links (Groningen, The Netherlands)
15:30-17:00Symposium 9
Chair(s):Mohamad Maghnie (Genoa, Italy) & Gabriele Haeusler (Vienna, Austria)
Novel advances in endocrine imaging
Dimitris Mitropoulos Hall
15:30S9.3Novel techniques in diagnostics of bone strength
Nicola Crabtree (Birmingham, UK)
16:00S9.1Visualisation of pancreatic beta cells
Martin Gotthardt (Nijmegen, The Netherlands)
16:30S9.2Novel CNS Imaging techniques
Maria Argyropoulou (Ioannina, Greece)
15:30-17:00Symposium 10
Chair(s):Julie Chowen (Madrid, Spain) & Antje Körner (Leipzig, Germany)
Paediatric obesity: Mechanisms and novel treatment
Alexandra Trianti Hall
15:30S10.1Key learnings from European studies on obesity prevention
Odysseas Androutsos (Athens, Greece)
16:00S10.2Functional Leptin Deficiency Disorders and Treatment
Professor Martin Wabitsch (University of Ulm, Germany)
16:30S10.3MC4R agonists in the treatment of monogenic disorders of obesity
Peter Küehnen (Berlin, Germany)
17:00-17:30ESPE AWARDS
Chair(s):Peter Clayton (Manchester, UK)
ESPE International Award & ESPE President Poster Award
Christos Lambrakis Hall
17:30-18:00Plenary 8
Chair(s):Annette Grueters-Kieslich (Berlin, Germany) & Cheri Deal (Montréal, Canada)
Christos Lambrakis Hall
17:30PL8Turner syndrome: new insights from prenatal genomics and transcriptomics
Diana Bianchi (Bethesda, USA)
18:00-18:15Closing Ceremony
Christos Lambrakis Hall
20:00-21:45ESPE Evening