Issue 10 – Winter 2008
Issue 10 - Winter 2008
Bringing The Latest In Paediatric Endocrinology To You
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Editorial
Welcome
News
Intro
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Scientific Highlights
8th Joint ESPE/LWPES Meeting New York, USA, 9–12 September 2009 Please visit the website for further information: www.lwpes-espe2009.org The 49th ESPE Annual Meeting Prague, Czech Republic, 22–25 September 2010 Please visit the website for further information: www.espe2010.org Please visit the ESPE website for details about future meetings: www.eurospe.org Society for Endocrinology BES Meeting 2009 Harrogate, 16–19 March 2009 Email: conferences@endocrinology.org www.endocrinology.org/meeting DEAR COLLEAGUES As your Editorial Board, we aim to reflect what is happening in different centres, and to highlight items that you would like to share with other colleagues, so that we increase awareness and/or find other people interested in your area. The topics discussed can include research projects, or diagnostic tests in your lab, especially with respect to the diagnosis of rare disease. We would like the newsletter to improve comprehensive and widespread collaboration between colleagues and among centres. Please get in touch by writing to espe@eurospe.org. Feyza Darendeliler, Editor Nobel Prize in Physiology or Medicine THIS YEAR THE NOBEL PRIZE IN PHYSIOLOGY OR MEDICINE was awarded to Professor Sir John Gurdon, University of Cambridge, UK, and Professor Shinya Yamanaka, Kyoto University, Japan, for their discovery that mature cells can be reprogrammed to be pluripotent. Professor Gurdon reshaped the prevailing notion that all cells are committed to their cell fate. His experiments demonstrated that the nucleus of a mature cell can be returned to a pluripotent state. Some of his techniques were used in the cloning of mammals, including ‘Dolly the sheep’. In separate studies, Professor Yamanaka published a method to reprogramme skin cells to give cells which resemble embryonic stem cells. These techniques have been applied to human cells to derive induced pluripotent stem (iPS) cells. The field of research in iPS cells has opened up the possibility of understanding disease mechanisms, especially for rare diseases, where access to affected human tissues is not possible and suitable animal models do not exist. Examples of relevance to paediatric endocrinology include differentiation of pancreatic beta-cells from patients with monogenic diabetes and congenital hyperinsulinism. Such differentiated cells provide opportunities for drug development and screening to improve treatment options. For further details on this year’s Nobel Prize in Physiology or Medicine, please see www.nobelprize.org/nobel_prizes/medicine/laureates/2012/press.html.
News
Scientific Highlights from ESPE 2008
Plenary Lectures The first plenary session, presented by Eva Jablonka, focused on epigenetic inheritance, discussing the effects of various environmental factors on chronic diseases and stressing that environment may affect future generations through the induction of epigenetic changes. Gokhan Hotamisligil centred his talk on the biological mechanisms of obesity and the evolutionary mismatch between biological systems and energy surplus. He showed new evidence on the inhibition of insulin signalling, which plays a critical role in obesity and type 2 diabetes. Minoo Rassoulzadegan discussed the epigenetic mechanism of paramutation, a heritable change of the phenotype of a paramutable allele. In the ESPE award session, Klaus Mohnike presented data from the European Registry for congenital hyperinsulinism (CHI), which showed that focal CHI occurs not only in neonates but also in infants. Remco Visser discussed Sotos syndrome, demonstrating the involvement of deregulation of the MAPK signalling pathway. Per-Olof Berggren described autocrine and paracrine regulatory loops that modulate insulin producing β-cell function. Apolipoprotein C III was identified as the active component for stimulation of calcium flux and was reported to be three times higher in diabetic serum of some patients compared with controls. Tsutomu Ogata described a new gene MAMLD1 (mastermind-like domain containing 1, previously known as CXorf6) involved in hypospadias and Serdar Bulun reported new genetic mechanisms involved in aromatase excess or deficiency. Joseph Majzoub and Søren Nielsen dedicated their session to water and electrolyte homeostasis, giving an update on the mechanisms regulating osmolality, vasopressin secretion and water drinking behaviour. Symposia The first session of the Disorders of Sex Development (DSD) session, presented by F Ahmed, S Drop and O Hiort emphasized the importance of a collaborative approach to data collection, data evaluation, teaching and research. DSD is a frequent clinical problem and, as stated by I Hughes, Turner syndrome (TS) and congenital adrenal hyperplasia are the two most common diagnoses in EU centres. The ESPE Turner Syndrome (TS) working group session focused on cardiovascular abnormalities. L Mazzanti and B Hjerrild emphasized that higher than expected rates of cardiovascular abnormalities in TS contribute significantly to increased morbidity and mortality. K Albertsson Wikland stated that to obtain optimum growth in TS, adequate therapy of hypothyroidism, individualized GH therapy and appropriate pubertal induction with oestrogen therapy are needed. The meeting on 'Hyperandrogenism in Adolescent Girls' started with an overview by M Pugeat of the pathophysiology of the steroid hormone pathway and the genetic defects that can cause disturbances in
News
ESPE Awards at the
47th Annual Meeting
Andrea Prader Prize Stenvert Drop, Erasmus University, Rotterdam, the Netherlands This year the most prestigious ESPE award went to Sten Drop, who has long provided expert leadership to ESPE, for research particularly in the disorders of sex development, and more recently in e-learning. ESPE Research Award Leo Dunkel, University of Kuopio, Finland, received the ESPE Research Award for his world-leading research in the regulation and treatment of puberty and pubertal disorders. He gave an enlightening lecture, “Delayed maturation in modelling growth and puberty”. ESPE Outstanding Clinician Award Ferenc Péter, Buda Children's Hospital, Budapest, Hungary, received the ESPE Outstanding Clinician Award. Ferenc has had a long and distinguished career, he has nurtured almost all of the Hungarian ESPE members, and in 1983 he organised ESPE's first meeting in Eastern Europe. Henning Andersen prizes The Henning Andersen prizes were awarded for the best abstracts submitted to this year's meeting as follows: Best Basic Research abstract: “Sotos syndrome is associated with a deregulation of the MAPK signaling pathway” by Remco Visser, on behalf of other co-authors from Leiden, Netherlands. Best Clinical Research abstract: “European registry for congenital hyperinsulinism” by Klaus Mohnike from Magdeburg, Germany, on behalf of co-authors from Germany, UK and France. ESPE Young Investigator Luisa de Sanctis from Turin, Italy received the ESPE Young Investigator Award in recognition of her work in perinatal endocrinology and Gs-alpha protein disorders. She has an impressive list of papers including publications in Nature Genetics, JCEM and PNAS. ESPE 2008 Poster Prizes Begoña Ezquieta, Rafael Muñoz-Pacheco, Luis Santomé, Belén Ferreiro, Dolores García & Consolación Casado. Pitfalls in the molecular diagnosis of 21OH deficiency (21OHD) due to point mutations identification without further characterization of gene deletions/duplications/conversions. Ayhan Abaci, Emre Tascilar, Yilmaz Yozgat, Turkay Saritas, Ediz Yesilkaya, Ayhan Kilic, Vedat Okutan & M Koray Lenk. Echocardiographic epicardial adipose tissue in obese children: A new indicator of insulin resistance. Nicola Santoro, Laura Perrone, Grazia Cirillo, Maria Grazia Lepore, Alfonsina Palma, Pierluigi Marzuillo, Nicoletta Cresta & Emanuele Miraglia del Giudice. Metabolic syndrome and impaired glucose tolerance in obese children and adolescents are modulated by the rs997509 ENPP1 gene variant. Kaspar Sorensen, Lise Aksglaede, Henrik Leffers & Anders Juul. Changes in insulin sensitivity during puberty: Relation to body composition, physical fitness and the GH-IGF-I axis. Gunter Flemming, Juergen Klammt, Wieland Kiess, Werner F Blum & Roland Pfäffle. Functional analysis of novel GLI2 mutations in patients with multiple pituitary hormone deficiency
News
Social Highlights
of ESPE 2008
The ESPE 2008 meeting is now over and it was a great success with a large number of participants, high-quality scientific content and last, but not least, with its very enjoyable social activities. The meeting was kicked off by a cordial reception for ESPE members at the Congress Center: old friends had a chance to meet and greet each other, and new friends were made. The reception was crowded as ESPE Istanbul hosted many guests from outside Europe, and the distinguished scholars from around the world (Brazil, Argentina, India, Korea, China and several other countries) added vitality and diversity to the meeting. The Congress Center, located in one of the most elegant of the many hills of Istanbul, offered the participants a fascinating view of the Bosphorus. Its proximity to hotels, the Old City, fine dining and shopping made it a prime location from which to explore the city. Over 2000 ESPE members and guests appeared to relish this opportunity, as they scattered off to the many sites of Istanbul after each day of the meeting with red bags on their shoulders and maps in hand. The accompanying persons had an enviably larger slice of time in which to appreciate Istanbul's fascinating mixture of past and present, old and new, modern and traditional, embodied in the city's many museums, churches, palaces, mosques and bazaars. Like Istanbulites, they had the chance to take in the beauty of the Bosphorus and observe its ever-changing colour that gives Istanbul its character and daily moods. The Gala dinner was held at the 4th-century Byzantine Cistern, which once served as the underground water storage for the city. Its historic columns were lit in a romantic fashion, lending the venue a fascinating ambiance. I believe that everybody enjoyed the evening, which started with a traditional music performance of the Ottoman military band and culminated in Western tunes and dancing. We hope that everybody left Istanbul with good memories and look forward to welcoming you back soon. FEYZA DARENDELILER, ISTANBUL, TURKEY ESPE 2008 Local Organising Committee
ESPE Activities
ESPE Working Group Updates
ESPE Activities
ESPE Summer School 2008
The 22nd ESPE Summer School took place in Sapanca in Turkey, 16–19 September, just before the ESPE meeting in Istanbul. The ESPE Summer School has been organized every year since 1987 and brings together paediatric endocrinologists in training and academic clinicians and scientists. This year was special, since we had leading paediatric endocrinologists from China and India invited by ESPE as observers with the aim to facilitate the development of local Summer Schools in these countries. The Summer School Organizing Committee chose various themes this year, focusing on thyroid disorders, pubertal development and bone/calcium disorders. For each theme, there were state of the art basic and clinical lectures. Exchanges between students and teachers were active after the talks and during the breaks. An important feature of the Summer School is the presentation of cases, one by each student, which are discussed in small groups with a faculty member. Cases are then summarized and presented to the plenum, providing an extensive sample of challenging endocrine cases, ranging from management problems to rare molecular diagnoses or example cases. The Summer School is also aimed at promoting interactions between students of various geographical origins and this closeness during the three days was truly appreciated. All faculty members are to be thanked for contributing to the Summer School and staying throughout the course. Those of them not previously familiar with the ESPE Summer School concept were favourably impressed by the quality of the teaching and exchanges during the course. Dr Filiz Mine Cizmecioglu deserves special thanks for doing an outstanding job in the local organization of the course. Since its beginning in 1987, ESPE Summer School has been supported by Ferring Pharmaceuticals A/S, which is greatly appreciated. In 2009, the Summer School will take place in Briarcliff Manor, New York, 12–15 September, immediately after the LWPES/ESPE Joint Meeting. Application forms and further information can be found at the ESPE website. The application deadline is 1 February 2009. Please encourage your fellows to apply
ESPE Activities
Nobel Conference on Systems Biology and Child Health
The new ESPE initiative “RPPE” (Recent Progress in Paediatric Endocrinology; now renamed “NICHe”) brings together clinical researchers and leading basic scientists with expertise in new technologies that will shape the future directions of child health research. The first conference focused on obesity, diabetes and child growth and was supported by educational grants from the Medical Nobel Assembly and from Pfizer Corp., while ESPE provided travel grants for young researchers to attend and present posters. Details of the conference programme can be accessed at http://ki.se/ki/jsp/polopoly.jsp?d=10462&a=57 142&l=en and papers on the conference proceedings and a position statement from the speakers are due to be published in Nature Medicine
News
Child Health and Epigenetics, Developmental Plasticity and Programming: Call for abstracts
NICHe (New Inroads in Child Health) will hold its second conference close to Göteborg, Sweden on 15–17 May 2009. The 2nd NICHe meeting will be supported by educational grants from the foundation Växthuset for children and from Pfizer Inc. Once again we are fortunate to have confirmed acceptances from many of the leading basic scientists in this field. Clinical scientists will start out each session by presenting the challenges to child health and the basic scientists will present their views on how their methods can be used for solving the clinical issues. Although this will be a closed meeting with only speakers and invited discussants attending, ESPE will support up to 10 young (<40 years old or within 10 years of graduation) clinical or basic scientists to participate and present a poster. Priority will be given to abstracts of high quality that utilize epigenetics, developmental plasticity and programming to address paediatric endocrine issues. Abstracts and a 1–3 page CV with details of your age, graduation year and research interest should be emailed to Mr Sten Renstad (sten.renstad@semser.se). Decisions will be announced on 9 February 2009
ESPE Activities
Scientific Highlights from ESPE 2008
quency of heterozygous CYP21 mutations in a series of isolated hyperandrogenism.
The 'Cure for Diabetes' session gave a comprehensive overview of three of the current most
promising approaches to curing diabetes: closed loop insulin delivery that combines CSII and
CGM technologies (T Battelino); stem cell therapy (P De Vos); and transplantation approaches
(A Secchi).
'The Metabolic Syndrome in the Paediatric Age Range' symposium began with S Arslanian
giving an overview on the increasing problem of childhood metabolic syndrome (MS). Z Hochberg
explained that the process of weight gain is multifactorial, with the brain and adipose tissue being
important within this network. R Loos discussed how the environment influences gene expression
in obese patients. C Levy-Marchal outlined the impact of childhood MS on vascular risk and
discussed the role of exercise, metformin and bariatric surgery as interventions in obesity.
In the session on long-term consequences of early feeding, S Ozanne detailed the
relationship between poor early growth and development of type 2 diabetes mellitus, insulin
resistance (IR) and other features of MS in later life. A Singhal discussed feeding practices in
preterm infants and their long-term consequences.
JM Wit reported the results of the consensus meeting on idiopathic short stature from the
definition to the results of GH therapy. JC Carel and L Ghizzoni stated that in spite of several reports
on the use of GnRH analogue therapy in childhood, few rigorously conducted and controlled
prospective studies are available from which to derive evidence-based recommendations.
Abstracts from ESPE 2008 were published in Hormone Research, Volume 70, Supplement 1,
September 2008
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