Programme

View the 2018 Scientific Programme

Thursday 27 September 2018

07:30 - 08:45

Registration

08:00 - 10:00

ESPE Working Group on Disorders of Sex Development (DSD) & Turner Syndrome (TS)
Christos Lambrakis Hall
Chairs: Tülay Güran (Istanbul, Turkey), Malcolm Donaldson (Glasgow, UK), Rodolfo Rey (Buenos Aires, Argentina) & Christina Kanaka-Gantenbein (Athens, Greece)

08:00

Janielle van Alfen-van der Velden & Christa Flück (Nijmegen, The Netherlands & Bern, Switzerland)

08:03

Session 1: Mixed gonadal dysgenesis

Chairs: Tülay Güran (Istanbul, Turkey) & Malcolm Donaldson (Glasgow, UK)

08:05

WG1.1

Longterm outcome in males with 45,X/46,XY mosaicism

Marie Lindhardt Ljubicic (Copenhagen, Denmark)

08:25

WG1.2

The 45X/46XY gonad and similar variants – characteristics and risk of malignancies

Ewa Rajpert-De Meyts (Copenhagen, Denmark)

08:50

Session 2: Introduction

Rodolfo Rey (Buenos Aires, Argentina) & Christina Kanaka-Gantenbein (Athens, Greece)

08:52

WG1.3

Congenital heart defects and cardiovascular risk in individuals who have a 45X/46XY karyotype

Katya De Groote (Ghent Belgium)

09:20

WG1.4

Condition-specific tools for transition care multidisciplinary programs: lessons from the Turner syndrome models

Sarah Corrathers (Cincinnati, USA)

09:45

WG1.5

DSD News: I-DSD, I-CAH; DSDnet, Endo-ERN

Faisal Ahmed & Olaf Hiort (Glasgow, UK & Lubeck, Germany)

09:52

WG1.6

Malcolm Donaldson (Glasgow, UK)

09:59

Closing Remarks

Janielle van Alfen-van der Velden & Christa Flück (Nijmegen, The Netherlands & Bern, Switzerland)

08:00 - 10:00

ESPE Working Group on Obesity
Lessons of metabolism in childhood obesity
Chairs: Jesús Argente (Madrid, Spain) & Tatyana Chaychenko (Kharkiv, Ukraine)

08:00

WG2.1

Body shapes - growth phenotypes in obese children

Antje Körner (Leipzig, Germany)

09:00

WG2.3

Less Prenatal and/or More Postnatal Weight Gain: a Highway to PCOS

Francis De Zegher (Leuven, Belgium)

09:30

WG2.4

Effects of the fetal-neonatal environment on later metabolism.

Julie A. Chowen (Madrid, Spain)

08:00 - 10:00

ESPE Working Group on Bone and Growth Plate (BGP)
Alexandra Trianti Hall

08:05

WG3.1

Assessment of fracture risk in children

Amaka Offiah (Sheffield, UK)

08:35

WG3.2

SHOX – from gene to growth plate

Gudrun Rappold (Heidelberg, Germany)

09:10

WG3.3

Complex Clinical Presentations: Case Study 1

09:25

WG3.4

Complex Clinical Presentations: Case Study 2

09:40

WG3.5

Update on EndoERN

Agnès Linglart (Paris, France)

09:50

WG3.6

Nick Bishop (Sheffield, UK)

08:00 - 10:00

ESPE Working Group on Diabetes Technology
Banqueting Hall
Chairs: Moshe Phillip (Petah Tikva, Israel) & Tadej Battelino (Ljubljana, Solvina)

08:00

WG4.1

Moshe Phillip (Petah Tikva, Israel)

08:05

WG4.2

How 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)

08:25

WG4.3

Use of Apps for Physical activity in type 1 diabetes

Olga Kordonouri (Hannover, Germany)

08:45

WG4.4

The future role of machine learning and computer vision in carbohydrate estimation for patients with diabetes

Stavroula Mougiakakou (Bern, Switzerland)

09:05

WG4.5

Analyzing and Reporting of Sensor Glucose Levels

Revital Nimri (Petah Tikva, Israel)

09:25

WG4.6

Updates on the developments of Decision Support Systems for the treatment of diabetes

Moshe Phillip (Petah Tikva, Israel)

09:45

WG4.7

Use of social media for improving glucose control in patients with type 1 diabetes

Goran Petrovski (Skopje, Macedonia)

08:00 - 10:00

Working Group: Paediatric and Adolescent Gynaecology
Nikos Skalkotas Hall
Chair: Lourdes Ibanez (Barcelona, Spain)

08:00

WG5.1

Prenatal Programming of PCOS: interplay between anti-müllerian hormone and the GnRH system

Paolo Giacobini (Lille, France)

08:25

WG5.2

Genetic determinants of puberty timing

Ken Ong (Cambridge, UK)

08:45

WG5.3

Body adiposity as a determinant of age at puberty

Frank Biro (Cincinnati , USA)

09:10

WG5.4

Endocrine-metabolic outcome of women with a history of sexual precocity

Liat de Vries (Petah Tikva, Israel)

09:30

WG5.5

Neurodevelopment and puberty

Anne-Lise Goddings (London, UK)

08:00 - 10:00

Working Group: Gender Dysphoria
MC3
Chair: Gary Butler (London, UK)

08:00

Section 1: Non-binary gender identification; Social and endocrine management challenges

08:05

WG6.1

Gender identity development: Neither male nor female or being both, growing up as gender queer

Thomas D Steensma (Amsterdam, The Netherlands)

08:30

Endocrine challenges in adolescents with non-binary gender identification.

09:15

WG6.2

Section 2: Fertility in transgender adolescents - Current options for fertility conservation in trans-teenagers.

10:00 - 10:30

Tea & Coffee Break

10:30 - 10:45

Opening Ceremony
Christos Lambrakis Hall

10:45 - 11:15

Plenary 1
Christos Lambrakis Hall
Chairs: Peter Clayton (Manchester, UK) & Anita Hokken-Koelega (Rotterdam, The Netherlands)

10:45

P1

Oncofertility: From Bench to Bedside to Babies

Teresa Woodruff (Chicago, USA)

11:15 - 11:30

Awards 1

12:00 - 13:30

Special Symposium: Nutrition and Growth
Nikos Skalkotas Hall

12:00

SS1.1

It is not just the growth hormone axis

Ola Nilsson (Stockholm, Sweden)

12:30

SS1.2

Fascinating growth phenomena: what causes individual catch-up growth and population secular change

Jan-Maarten Wit (Leiden, Holland)

13:00

SS1.3

Interaction between nutrition, the endocrine system and the growth plate

Moshe Phillip (Petah Tikva, Israel)

12:00 - 13:30

Symposium 1
Recent developments in the understanding of Hypothalamo-pituitary disorders
Dimitris Mitropoulos Hall
Chairs: Roland Pfäffle (Leipzig, Germany) & Rachel Reynaud (Marseille, France)

12:00

S1.1

The molecular basis of Combined Pituitary Hormone Deficiency: lessons from animal models

Sally Camper (Michigan, USA)

12:30

S1.2

Stem Cells in the Pituitary: a role for regeneration?

Karine Rizzoti (London, UK)

13:00

S1.3

A novel role for Vasopressin in parenting

Andrés Bendesky (New York, USA)

12:00 - 13:30

Symposium 2
Gonads/DSD
Banqueting Hall
Chairs: Christina Kanaka-Gantenbein (Athens, Greece) & Reiko Horikawa (Tokyo,

12:00

S2.1

The biology of germ cell tumors in Disorders of Sex Development

Leendert Looijenga (Rotterdam, The Netherlands)

12:30

S2.2

Disruption of testicular development and function

Rod Mitchell (Edinburgh, UK)

13:00

S2.3

Assessing gonadal function

Anders Juul (Copenhagen, Denmark)

12:00 - 13:30

Symposium 3
Recent Consensus Guidelines
Christos Lambrakis Hall
Chairs: Asma Deeb (Abu Dhabi, UAE) & Agnès Linglart (Paris, France)

12:00

S3.1

Silver-Russell Syndrome

Irene Netchine (Paris, France)

12:20

S3.2

Hypogonadotrophic Hypogonadism

Nelly Pitteloud (Lausanne, Switzerland)

12:40

S3.3

Paediatric Obesity

Dennis Styne (Sacramento, USA)

13:00

S3.4

Prevention and Management of Rickets

Wolfgang Hogler (Birmingham, UK)

12:00 - 13:30

Controversy 1
Should growth hormone be used in iSS?
Alexandra Trianti Hall
Chair: Stefano Cianfarani (Rome, Italy)

12:00

C1.1

PRO - Should Growth Hormone be used in iSS?

Ron Rosenfeld (Oregon, USA)

12:45

C1.2

AGAINST - Should Growth Hormone be used in iSS?

Jean-Claude Carel (Paris, France)

13:30 - 15:00

Lunch, Posters and Exhibitions

14:00 - 15:00

Satellite Symposia
Alexandra Trianti Hall

15:00 - 16:00

Free Communications 1
Adrenals and HPA Axis
Chairs: Svetlana Lajic (Stockholm, Sweden) & Stefan Wudy (Giessen, Germany)

15:00

FC1.1

A novel non-invasive Short Synacthen Test validated in a healthy paediatric population.

Charlotte Elder (Sheffield, UK)

15:10

FC1.2

Long-term effects of prenatal dexamethasone treatment and postnatal glucocorticoid treatment on brain structure in the context of CAH.

Annelies van't Westeinde (Stockholm, Sweden)

15:20

FC1.3

Targetting 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)

15:30

FC1.4

Whole Exome Sequencing in patients with Primary Generalized Glucocorticoid Resistance identifies a novel TRIM28 gene mutation (p.R230X).

Amalia Sertedaki (Athens, Greece)

15:40

FC1.5

Untargeted Plasma Metabolomics in Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies a Novel Metabolic Signature.

Nicolas C. Nicolaides (Athens, Greece)

15:50

FC1.6

A novel stem cell model for the Triple A Syndrome.

Alexandra Rodrigues Da Costa (London, UK)

15:00 - 16:00

Free Communications 2
Bone, growth plate and mineral metabolism 1
Chair: Nick Shaw (Birmingham, UK)

15:00

FC2.1

Burosumab, 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 (Paris, USA)

15:10

FC2.2

Whole genome sequencing reveals novel intragenic deletions of GNAS as causes of pseudohypoparathyroidism type 1a.

Dong Li (Philadelphia, USA)

15:20

FC2.3

Clinical course of hypoparathyroidism in patients with APECED (APS1)

Saila Laakso (Helsinki, Finland)

15:30

FC2.4

Diagnostic Performance of Artificial Neural Network-Based TW3 Skeletal Maturity Assessment.

Xuelian Zhou (Hangzhou, China)

15:40

FC2.5

Radial ESWT stimulates longitudinal bone growth in cultured rat fetal metatarsal bones.

Sowmya Ramesh (Vellore, India)

15:50

FC2.6

Final Height is Negatively Related to Disease Burden in Mitochondrial Disease.

Rachel Boal (Newcastle Upon Tyne, UK)

15:00 - 16:00

Free Communications 3
Diabetes and Insulin Session 1

15:00

FC3.1

Neonatal diabetes owned to potassium channel mutation: response to sulfonylureas according to the genotype.

Jacques Beltrand (Paris, France)

15:10

FC3.2

Genome-Wide Meta-Analysis identifies a novel low frequency STK39 variant of large effect on risk of Type 1 Diabetes.

Despoina Manousaki (Montreal, Canada)

15:20

FC3.3

Pediatric 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)

15:30

FC3.4

Is the glycaemic response from fat in meals dose dependent in children and adolescents with T1DM on intensive insulin therapy?

Susan M. O'Connell (Cork, Ireland)

15:40

FC3.5

Genotype and Phenotype Correlation in Syndromic Forms of Hyperinsulinaemic Hypoglycaemia – a 10-year follow-up study in a tertiary centre.

Antonia Dastamani (London, UK)

15:50

FC3.6

Using CRISPR/Cas9gene editing to study the molecular genetics of Congenital Hyperinsulinism.

Preetha Purushothaman (London, UK)

15:00 - 16:00

Free Communications 4
GH and IGFs
Chairs: Feyza Darendelier (Athens, Greece) & Bradley Miller (Minnesota, USA)

15:00

FC4.1

Monogenic and digenic gene mutations are present in children with idiopathic short stature (ISS).

Ana Claudia Keselman (Buenos Aires, Argentina)

15:10

FC4.2

Effects of IGF-1R nuclear localization in glioblastoma cells.

Patricia Pennisi (Buenos Aires, Argentina)

15:20

FC4.3

The 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)

15:30

FC4.4

A Cross-sectional Study of IGF-I Bioavailability through Childhood and Associations with PAPP-A2, STC2 and Anthropometric Data.

Masanobu Fujimoto (Cincinnati, USA)

15:40

FC4.5

Prediction of adult height by artificial intelligence (AI) through machine learning (ML) from early height data.

Alina German (Haifa, Israel)

15:50

FC4.6

Absorption and Excretion of Somapacitan, a Long-Acting Growth Hormone (GH) Derivative.

Michael Højby Rasmussen (Søborg, Denmark)

15:00 - 16:00

Free Communications 5
Thyroid
Chairs: Johnny Deladoey (Gatineau, Canada) & Paul Von Trotsenberg (Amsterdam, The Netherlands)

15:00

FC5.1

Beta1-Tubulin Gene (TUBB1) Mutations Cause Thyroid Dysgenesis Associated to Abnormal Platelet Morphology and Hyper-aggregation.

Aurore Carré (Paris, France)

15:10

FC5.2

Enrichment 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 (Montréal, Canada)

15:20

FC5.3

Computational 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)

15:30

FC5.4

Thyroid hormone analog therapy in patients with MCT8 deficiency: the Triac Trial.

Stefan Groeneweg (Rotterdam, Netherlands)

15:40

FC5.5

Guidelines for the Management of Paediatric Differentiated Thyroid Carcinoma; a UK endeavour.

Sasha Howard (London, UK)

15:50

FC5.6

Alterations in DNA methylation status of gene promoters in children and adolescents with autoimmune thyroid disease.

Ioannis Kyrgios (Thessaloniki, Greece)

15:00 - 16:00

How do I...
Session 1
Alexandra Trianti Hall
Chair: Nils Krone (Sheffield, UK)

15:00

HDI1.1

…Interpret a low Vit D concentration?

Raja Padidela (Manchester, UK)

15:20

HDI1.2

…Differentiate between constitutional delay in growth and puberty and hypog hypog?

Gerhard Binder (Tubingen, Germany)

15:40

HDI1.3

...Manage an adolescent with Type 1 diabetes and microalbuminuria

Carlo Acerini (Cambridge, UK)

16:00 - 16:30

Rapid Free Communications 1
Adrenals and HP axis
Chairs: Svetlana Lajic (Stockholm, Sweden) & Stefan Wudy (Giessen, Germany)

16:00

RFC1.1

The relative contributions of genetic and environmental factors on cortisol metabolism at pre-, mid- and post-pubertal ages.

Britt van Keulen (Amsterdam, Netherlands)

16:05

RFC1.2

Changes in CYP19A1 and CYP3A4 activities due to population genetic variations in human P450 Oxidoreductase.

Shaheena Parween (Switzerland)

16:10

RFC1.3

Sphingosine-1-phosphate lyase (SGPL1) deficiency is associated with mitochondrial dysfunction.

Avinaash Maharaj (London, UK)

16:15

RFC1.4

Mass spectrometry-based assessment of childhood androgen excess in 487 consecutive patients over 5 years.

Jan Idkowiak (Birmingham, UK)

16:20

RFC1.5

Quantitative urinary GC-MS based steroid analysis for treatment monitoring of adolescents and young adults with autoimmune primary adrenal insufficiency.

Clemens Kamrath (Giessen, Germany)

16:25

RFC1.6

A laboratory harmonization strategy for steroid hormone profiling by MoM-transformed, normalized reference ranges independent of age-, sex -and units.

Alexandra E. Kulle (Kiel, Germany)

16:00 - 16:30

Rapid Free Communications 2
Bone, growth plate and mineral metabolism 1
Chair: Nick Shaw (Birmingham, UK)

16:00

RFC2.1

High-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)

16:05

RFC2.2

S-25OHD is Associated with Hand Grip Strength and Myopathy at Five Years in Girls: An Odense Child Cohort Study.

Rada Faris Al-Jwadi (Odense, Denmark)

16:10

RFC2.3

Measured 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 Bosch i. Ara (Barcelona, Spain)

16:15

RFC2.4

Novel severe skeletal dysplasia with under-mineralisation associated with reduced in utero calcium transport and TRPV6 compound heterozygous variants.

Philippa Bowen (Bristol, UK)

16:20

RFC2.5

Identification of characteristic neurological complications in infants with Achondroplasia by routine MRI screening.

Harry Dougherty (London, UK)

16:25

RFC2.6

The novel R211Q POP1 homozygous mutation causes severe short stature but uniquely only subtle skeletal dysplasia.

Maha Abdulhadi-Atwan (Hebron, Palestine)

16:00 - 16:30

Rapid Free Communications 3
Diabetes and Insulin Session 1

16:00

RFC3.1

Diagnostics 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)

16:05

RFC3.2

Personalized and predictive medicine for pediatric diabetes through a genetic test using next generation sequencing.

Valerie Schwitzgebel (Geneva, Switzerland)

16:10

RFC3.3

Significant prevalence of severe monogenic immune defects among children with Type 1 diabetes and low T1D-genetic risk score.

Stepanka Pruhova (Prague, Czech Republic)

16:15

RFC3.4

Functional characterization of a novel KLF11 mutation identified in a family with autoantibody-negative type 1 diabetes.

Kikumi Ushijima (Tokyo, Japan)

16:20

RFC3.5

Recent secular change in pre- and postnatal growth and adiposity in Infants of Mothers with Gestational Diabetes.

Laurentya Olga (Cambridge, UK)

16:25

RFC3.6

Treatment adherence and weight loss are key predictors of HbA1c one year after diagnosis of childhood Type 2 Diabetes in UK.

Toby Candler (Bristol, UK)

16:00 - 16:30

Rapid Free Communications 4
GH and IGFs
Chairs: Feyza Darendelier (Athens, Greece) & Bradley Miller (Minnesota, USA)

16:00

RFC4.1

Metabolomic changes in patients with PAPP-A2 deficiency in response to rhIGF1 treatment.

Jesús Argente (Madrid, Spain)

16:05

RFC4.2

Data 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)

16:10

RFC4.3

A deletion encompassing exon 2 of the alsgene: Analysis of a patient with ALS deficiency and his family.

Helena Poggi (Santiago, Chile)

16:15

RFC4.4

A longitudinal study on miRNAs circulating levels in a cohort of SGA and AGA subjects, evaluated during childhood and young adulthood.

Elena Inzaghi (Rome, Italy)

16:20

RFC4.5

12-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 Jung Choi (Seoul, Korea, Republic of)

16:25

RFC4.6

Effect of 2 years of Growth Hormone Treatment on Glucose Tolerance in Adults with Prader-Willi Syndrome.

Layla Damen (Rotterdam, Netherlands)

16:00 - 16:30

Rapid Free Communications 5
Thyroid
Chairs: Johnny Deladoey (Gatineau, Canada) & Paul Von Trotsenberg (Amsterdam, The Netherlands)

16:00

RFC5.1

Serum levels of the soluble receptor for advanced glycation end productsare reduced in chrildren with Hashimoto's Thyroiditis.

Tommaso Aversa (Messina, Italy)

16:05

RFC5.2

Analysis 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)

16:10

RFC5.3

Incidence and treatment outcome of childhood thyrotoxicosis.

Maria Lodefalk (Örebro, Sweden)

16:15

RFC5.4

The value of cytological, histological and US examination to determine of management children with nodular goiter.

Alexander Anikiev (Moscow, Russian Federation)

16:20

RFC5.5

Evidence for a founder effect in Multiple Endocrine Neoplasia 2.

Vassos Neocleous (Nicosia, Cyprus)

16:25

RFC5.6

DUOX2 Deficiency in Quebec: From Life-threatening Compressive Goiter in Infancy to Lifelong Euthyroidism.

Gabrielle Dufort (Montreal, Canada)

16:30 - 16:45

Tea & Coffee

16:45 - 17:15

Plenary 2
Christos Lambrakis Hall
Chairs: Mehul Dattani (London, UK) & George Chrousos (Athens, Greece)

P2

Oxytocin and the healing power of love

C. Sue Carter (Indiana, USA)

17:15 - 18:15

Meet The Expert 1
Dimitris Mitropoulos Hall

17:15

MTE1.1

The role of Radiology in the diagnosis of skeletal dysplasias

Amaka Offiah (Sheffield, UK)

17:15 - 18:15

Meet The Expert 2
Nikos Skalkotas Hall

17:15

MTE2.1

Endocrine complications in Thalassemia

Nicos Skordis (Nicosia Cyprus)

17:15 - 18:15

Meet The Expert 3
Banqueting Hall

17:15

MTE3.1

Neuro endocrine assessment after a childhood intracranial or suprasellar tumour

Helen Spoudeas (London, UK)

17:15 - 18:15

Meet The Expert 4
Alexandra Trianti Hall

17:15

MTE4.1

The use of modern technologies to optimise diabetes care

Olga Kordonouri (Hannover, Germany)

17:15 - 18:15

Yearbook of Paediatric Endocrinology 1
Christos Lambrakis Hall
Chair: Juliane Leger (Paris, France)

YB1.1

Gabor Szinnai (Basel, Switerland)

YB1.2

Evangelia Charmandari (Athens, Greece)

YB1.3

Obesity and Weight Regulation

Martin Wabitsch (Ulm, Germany)

YB1.4

Type 2 Diabetes, Metabolic Syndrome and Lipids

Orit Hamiel (Tel-Aviv, Israel)

YB1.5

Global Health for the Paediatric Endocrinologist

Jean-Pierre Chanoine (Vancouver, Canada)

18:30 - 20:00

Satellite Symposium
Alexandra Trianti Hall

18:30 - 20:00

Satellite Symposium
Nikos Skalkotas Hall

18:30 - 20:00

Satellite Symposium
Dimitris Mitropoulos Hall

20:00 - 21:30

ESPE Networking Event
Exhibition Hall