Thursday 20 September


 



09:00 - 12:00
WG1 - ESPE Bone and Growth Plate Working Group
Moderator(s):  Outi Mäkitie, Helsinki, Finland
Wolfgang Högler, Birmingham, United Kingdom

Impact of chronic diseases on growth plate cartilage
 Lars Sävendahl, Stockholm, Sweden

Idiopathic infantile hypercalcemia and CYP24A1
 Karl Schlingmann, Münster, Germany

Unusual presentations of mutations affecting type I collagen processing
 Joan C. Marini, Bethesda, United States

Coffee break 10:30-10:45
Osteopetrosis and high bone mass diseases
 Yasemin Alanay, Istanbul, Turkey

Case discussions on high bone mass disorders:
Osteopetrosis type II due to a CLCN7 mutation
 Nick Shaw, Birmingham, United Kingdom

Van Buchem disease (hyperostosis corticalis generalisata) in pediatric patients
 Annemieke Boot, Groningen, The Netherlands

Pycnodysostosis with cathepsin K mutations
 Serap Turan, Istanbul, Turkey


09:00 - 12:00
WG2 - The 5th ESPE Disorders of Sex Development Working Group Meeting
Moderator(s): -

Welcome
 Laura Audí, Barcelona, Spain

Symposium on Advances in DSD Research and Diagnosis
Moderator(s): Anna Nordenström, Stockholm, Sweden
A holistic perspective on DSD
 Ieuan Hughes, Cambridge, United Kingdom

New methods for investigating DSD
 Andrew Sinclair, Melbourne, Australia

New genes for DSD: CGH microarray disorders of the Müllerian ducts in females
 Susanne Ledig, Münster, Germany

Coffee break 10:30 - 11:00
Collaborative Activities
Moderator(s): Paul-Martin Holterhus, Kiel, Germany
Update on the International DSD Registry
 Jillian Bryce, Glasgow, United Kingdom

Update on the ESPE e-learning module
 Stenvert L.S. Drop, Rotterdam, The Netherlands

2012 Working Party on DSD: Evaluation report
 Evangelia Charmandari, Athens, Greece

The future of a European Reference Network (ERN) on DSD
 Olaf Hiort, Lübeck, Germany

Discussion
Open Business Meeting

09:00 - 12:00
WG3 - ESPE Obesity Working Group
Moderator(s):  Bessie Spiliotis, Patras, Greece
Edgar van Mil, Den Bosch, The Netherlands

Session I: The Role of Adipocyte Inflammation in Obesity

Obesity, adipocyte inflammation and vitamin D
 Bessie Spiliotis, Patras, Greece

Deletion of Fas in adipocytes as a potential therapeutic intervention for adipose tissue inflammation and hepatic manifestations of obesity
 Daniel Konrad, Zürich, Switzerland

Coffee break 10:00 - 10:30
Session II: Obesity and Diabetes Mellitus Type II
Gut-brain communication as a target for diabetes prevention and therapy
 Mathias Tschoep, München, Germnay

Restoration of euglycemia in morbidly obese patients with NIDDM following bariatric surgery
 Theodore Alexandrides, Patras, Greece

Obesity Working Group Business and Research Meeting

09:00 - 12:00
WG4 - ESPE Paediatric and Adolescent Gynaecology Working Group: Sexual Precocity in Girls: a Growing Problem
Moderator(s): -

Pubertal development in girls: a worldwide changing trend
 Anders Juul, Copenhagen, Denmark

Precocious pubarche: significance for subsequent gonadal function
 Lourdes Ibáñez, Barcelona, Spain

Precocious pubertal development: early-normal variants vs progressive variants
 Liat de Vries, Petah Tikva, Israel

ESPE – PAG – Working Group-Collaborative Project: Prevalence of hyperandrogenism in adolescent girls previously treated for central precocious puberty and followed up for at least two years beyond menarche
 Laura Gaspari, Montpellier, France

Coffee break 10:20 - 10:35
Perinatal endocrine disruption of female pubertal timing and early causal interaction with nutrition
 Jean-Pierre Bourguignon, Liège, Belgium

Precocious puberty: endocrine-metabolic and gynecological outcomes
 Charles Sultan, Montpellier, France

Peripheral precocious puberty: a difficult diagnosis and treatment
 Michel Polak, Paris, France


09:00 - 12:00
WG5 - ESPE Turner Syndrome Working Group: Talking about Turner Syndrome
Moderator(s): -

Talking about Turner syndrome
Laura Mazzanti, Bologna, Italy

I session – Communication of diagnosis of Turner syndrome
Moderator(s): Catherine Dacou-Voutetakis, Athens, Greece
T. Sas, Rotterdam, The Netherlands

Explaining the Turner syndrome karyotype to parents during pregnancy
Bruno Dallapiccola, Rome, Italy

Gonadectomy in Turner syndrome with Y-chromosome mosaicism: who, why and when?
Martine Cools, Ghent, Belgium

Communicating a diagnosis of rare disease involving possible infertility: femininity and TS (German TS support group psychologist)
 Angelika Bock, Rotenburg an der Fulda, Germany

Discussion
Coffee break 10:40 - 11:00
II session – Diagnosis of TS and TS Support Group
Moderator(s): Berit Kristrom, Umea, Sweden
Ewa M. Tendera, Katowice, Poland

Results of an ESPE questionnaire about communicating the diagnosis of Turner syndrome
 Franciska Verlinde, Winksele, Belgium

Experience of TS support group about communication of diagnosis
 Angelika Bock, Rotenburg an der Fulda, Germany

Club business and presentation of new and ongoing protocols on the topic of ovarian failure and therapy

12:00 - 12:45
LUNCH


12:45 - 13:00
Opening Ceremony


13:00 - 14:00
PL1 - Evolution
Moderator(s):  Jean-Claude Carel, Paris, France
Chris Kelnar, Edinburgh, United Kingdom

The evolution of human childhood
 Jean-Jacques Hublin, Leipzig, Germany

Evolution – the case of lactase persistence and dairying in Europe
 Mark Thomas, London, United Kingdom


14:00 - 15:30
COFFEE BREAK. Visit to the Exhibition and Posters


15:30 - 17:00
S1 Basic - IGF-1 as an Oncogene - SLEP/ESPE
Moderator(s):  Stephen Shalet, Manchester, United Kingdom
Laura Audí, Barcelona, Spain


IGF-I and the IGF-I receptor have been implicated in tumour growth and development. Therapies directed against IGF-I or tyrosine kinase receptors including the IGF-I receptor are being explored in clinical studies.

 Genetics and cell biology of the IGF-1 receptor
 Roland Pfaeffle, Leipzig, Germany
What is the role of genetic variants of the IGF-I receptor in children with short stature?

Nuclear IGF-1 receptors in tumour cells
 Olle Larsson, Stockholm, Sweden
IGF-1 receptors are membrane-bound tyrosine kinases. However, there could be a role for nuclear receptors functioning as an oncogene.

IGFBPs/ALS: more than just IGF carrier proteins
 Horacio Domené, Buenos Aires, Argentina
The role of IGFBPs/ALS on the regulation of IGF-I actions. Lessons from animal models and human diseases.


15:30 - 17:00
S2 Translational - Congenital Insulin Resistance - ISPAD/ESPE
Moderator(s):  Khalid Hussain, London, United Kingdom
Jeremy Allgrove, London, United Kingdom


An update on rare causes of insulin resistance, their management and the insights they provide on metabolic regulations.

 Novel genetic disorders of insulin action
 R. K. Semple, Cambridge, United Kingdom
Genetic causes of insulin resistance provide a unique opportunity to evaluate the metabolic consequences of insulin resistance and their mechanism.

Deciphering genetic causes of lipodystrophic syndromes
 Corinne Vigouroux, Paris, France
The spectrum of lipodystrophic syndromes has extended from rare congenital and pediatric diseases to conditions that can present as adult onset type 2 diabetes.

Management of congenital insulin resistance
 Jacques Beltrand, Paris, France
Management of congenital insulin resistance is challenging. Current options and future avenues will be discussed.


15:30 - 17:00
S3 Clinical - Cushing Syndrome and Disease
Moderator(s):  Helmuth G. Dörr, Erlangen, Germany
George Chrousos, Athens, Greece


An update on the molecular pathogenesis and new avenues in the management of Cushing syndrome.

 Recent advances in the genetics of the various forms of Cushing syndrome
 Constantine Stratakis, Bethesda, United States
The molecular pathogenesis of pituitary corticotroph adenomas as well as adrenal hyperplasia and adrenal tumours will be updated and integrated with current recommendations for genetic screening and counselling.

Clinical evaluation of the patient with suspected Cushing syndrome
 Helen Storr, London, United Kingdom
A re-evaluation of the clinical and biochemical evaluation of the paediatric patient with Cushing syndrome.

Recent therapeutic advances for Cushing syndrome in children
 Ashley Grossman, Oxford, United Kingdom
Cushing's syndrome is rare in childhood, but poses very special management problems; the combination and sequencing of these therapies (medical, surgical and radiotherapeutic) will be discussed.


15:30 - 16:30
MTE1:1 - Adolescents with an elevated TSH

 
 Heiko Krude, Berlin, Germany


15:30 - 16:30
MTE2:1 - Disorders of Sex Development

 
 Olaf Hiort, Lübeck, Germany


15:30 - 16:30
MTE3:1 - Hormonal Management for Young People with Disabilities

 
 Margaret Zacharin, Melbourne, Australia


15:30 - 16:30
MTE4:1 - Skeletal Dysplasias

 
 Yasemin Alanay, Istanbul, Turkey


17:15 - 18:45
SAT1 - The GH–IGF Axis and Cancer – from Basic Research to Clinical Consequences
Sponsored by Eli Lilly and Company
Moderator(s):  Stefano Cianfarani, Rome, Italy
Cheri Deal, Montreal, Canada

Basic research: new insights into the GH-IGF axis and the oncogenic potential
 Peter Lobie, Singapore, Singapore

Epidemiologic associations between circulating components of the IGF system and cancer risk - an update
 Andrew Renehan, Manchester, United Kingdom

Potential associations of GH and cancer risk - consequences for GH therapy
 Peter Clayton, Manchester, United Kingdom

Questions and discussion
 All faculty


17:15 - 18:45
SAT2 - Tomorrow’s World: Exploring the Future of Paediatric Endocrinology
Sponsored by Pfizer
Moderator(s):  Ken Ong, Cambridge, United Kingdom
Stephen Shalet, Manchester, United Kingdom

Chairmen's introduction
 By the moderators.

Growth hormone therapy in the era of personalized medicine – genetic and clinical markers
 Primus Mullis, Bern, Switzerland

Growth hormone therapy in the era of personalized medicine – biochemical markers
 Peter Bang, Stockholm, Sweden

Questions and discussion
 Led by the moderators.

Novel treatment strategy for obesity in children: the use of short message service (SMS)
 Erica van den Akker, Rotterdam, The Netherlands

Questions and discussion
 Led by the moderators.

Conclusions
 Led by the moderators.


18:45 - 20:00
Welcome Reception in the Exhibition Hall



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