Issue 34 – Winter 2016
Issue 34 - Winter 2016
Bringing The Latest In Paediatric Endocrinology To You
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Editorial
Welcome
Welcome to issue 34 DEAR FRIENDS AND COLLEAGUES, It was wonderful to see so many of you at the 55th Annual Meeting of ESPE in Paris in September. Once again, the event treated us to the latest research and exciting developments in our discipline. We thank Jean-Claude Carel and everyone else involved in the meeting’s organisation for providing such a successful event. On pages 3–4, you can join us in congratulating the many prize winners who received awards at the ESPE Meeting. Their endeavours, and the important contributions of all our speakers, poster presenters and delegates, ensure that paediatric endocrinology thrives and continues to improve the support we can offer our patients. Thank you all. At the ESPE Meeting, we welcomed new members to the ESPE Council (see page 2). We also bade a fond farewell to long-standing Council members Gary Butler (formerly Chair of the Clinical Practice Committee) and Jan Lebl (formerly Chair of the Education & Training Committee). Following Jan’s article in the last issue, this time it is Gary’s turn to look back on his productive term as a Committee Chair (page 7). The ESPE Meeting was preceded as always by an excellent ESPE Summer School. You can read more about this year’s event from Summer School Co-ordinator Nick Shaw on page 6. This issue sees the first in a series of exciting regular updates from your Science Committee (page 5). We are sure you will agree that the ESPE Science Committee provides fantastic opportunities for members to strengthen their scientific and research careers in paediatric endocrinology. This regular column will ensure that you are always up to date with the activities that are available to you. As always, the rest of the issue is full of news and information from the world of paediatric endocrinology. Do make sure you send us your own news to include in future issues. Yours sincerely, Dr Assimina Galli-Tsinopoulou (Thessaloniki, Greece} Dr Abel López-Bermejo (Girona, Spain) Dr María Salomón Estébanez (Manchester, UK) editorial Board espe@eurospe.or
News
Intro
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News
ESPE update
WOW – WHAT A FANTASTIC MEETING we had in Paris! It was wonderful to see so many of you at the ESPE Connect stand. It’s always great to get the opportunity to interact with our members and show you what ESPE has to offer. Throughout the meeting, we held website focus groups. Thank you to those of you who gave your thoughts and feedback. The groups provide a very important contribution to the research that is informing the website redevelopment project. This will enable us to deliver a fantastic new site, full of the information you want. The new ESPE website will be launched in 2017 – so watch this space for more updates on this exciting project. At the ESPE Activities Update, our Education & Training Committee and Science Committee gave insights into the diverse range of activities that ESPE has on offer. With seven schools, our ESPE e-Learning platform, the PETCA (Paediatric Endocrine Training Centres for Africa) programme, the new Science Workshop and brilliant research grant opportunities, there is something to suit every member at all stages of their career. Earlier this year, we held our first e-vote to elect the new Council Committee Chairs, which was very successful. The new Chairs were announced during the Annual Business Meeting (ABM) in Paris. We congratulate Mehul Dattani, who will continue with a further 3-year term as Chair of the Programme Organising Committee. We welcome Rasa Verkauskiene on her election as Chair of the Education & Training Committee, and Evangelia Charmandari, who was elected as Chair of the Clinical Practice Committee. During the ABM, members also voted for the location of the 2021 ESPE Meeting. Many congratulations go to the winning bid from Copenhagen, with Anders Juul as President and Katharina Main as Vice-President. The 2021 meeting will differ from typical ESPE Annual Meetings, with a sharper focus on education and training. We are very much looking forward to it. To find out more about what your membership can do for you, please watch our membership video and, of course, keep looking out for news and deadlines in our monthly news alerts and on our website at www.eurospe.org.
News
New Council
members welcomed
at ESPE 2016
TWO NEW MEMBERS of the ESPE Council began their terms of office at the recent ESPE Meeting in Paris. We welcome: • Evangelia Charmandari (Athens, Greece), Chair of the Clinical Practice Committee, replacing Gary Butler. • Rasa Verkauskiene (Kaunas, Lithuania), Chair of the Education & Training Committee, replacing Jan Lebl. We wish them well in their new roles and thank the retiring Council members for their enormous contribution to ESPE. We also congratulate Mehul Dattani (London, UK) on his re-election as Chair of the Programme Organising Committee.
News
Seminar on rare paediatric
endocrine diseases
Athens, Greece, 6–8 March 2017 THIS IPOKRATES SEMINAR will update you on ‘Novel diagnostic and treatment options for rare paediatric endocrine diseases’. Find out more about the programme and registration (which is on a first-come, first-served basis) at http://ipokrates.info/seminars/postgraduates. Alternatively, contact Wolfgang Högler (wolfgang.hogler@bch.nhs.uk) E ARE DELIGHTED TO WELCOME Assimina Galli-Tsinopoulou (Thessaloniki, Greece) and María Salomón Estébanez (Manchester, UK) to join Abel López Bermejo on the ESPE Newsletter’s Editorial Board. The Editorial Board welcomes ideas and suggestions for articles from all ESPE members. The ESPE Newsletter is always pleased to include your news and details of any events you are organising. To get in touch or submit articles please contact the ESPE Team at espe@eurospe.org. The deadline for items for publication in the next issue is 13 January 2017. Seminar on rare paediatric endocrine diseases Athens, Greece, 6–8 March 2017 THIS IPOKRATES SEMINAR will update you on ‘Novel diagnostic and treatment options for rare paediatric endocrine diseases’. Find out more about the programme and registration (which is on a first-come, first-served basis) at http://ipokrates.info/seminars/postgraduates. Alternatively, contact Wolfgang Högler (wolfgang.hogler@bch.nhs.uk). W
News
Award winners at ESPE 2016
We congratulate the many award winners who received their prizes at ESPE 2016 in Paris in September. Marco Rivarola (Buenos Aires, Argentina, on the right) received the ESPE International Outstanding Clinician Award from Jan Lebl, in recognition of his contribution and commitment to clinical paediatric endocrinology in a country outside Europe and the Mediterranean basin. ESPE Research Award Ken Ong (Cambridge, UK) received the ESPE Research Award from Anita Hokken-Koelega, in recognition of research achievements of outstanding quality in basic endocrine science or clinical paediatric endocrinology. ESPE Outstanding Clinician Award Hilary Hoey (Leixlip, Ireland) was presented with the ESPE Outstanding Clinician Award by Gary Butler, in recognition of her outstanding clinical contribution to the practice of clinical paediatric endocrinology. ESPE International Award George Werther (Victoria, Australia, on the right) received the ESPE International Award from Peter Clayton. This is presented to an outstanding paediatric endocrinologist from a country outside Europe and the Mediterranean basin. ESPE Andrea Prader Prize Wieland Kiess (Leipzig, Germany, on the right) received the ESPE Andrea Prader Prize from Peter Clayton, in recognition of his lifetime achievement in teaching and research, outstanding leadership and overall contribution to the field of paediatric endocrinology.
ESPE News 4 Award winners at ESPE 2016 – continued These awards for young paediatricians, in recognition of their scientific publications, were presented to: • Loredana Marcovecchio (Chieti, Italy), whose award lecture was entitled ‘Diabetic nephropathy in young people with type 1 diabetes: early manifestations and risk factors’ • Tanja Kuiri-Hänninen (Kuopio, Finland), whose award lecture was entitled ‘Mini-puberty’ ESPE Hormone Research in Paediatrics Prizes These prizes for the best original papers published in Hormone Research in paediatrics were awarded to: • Nienke Bakker (Rotterdam, The Netherlands) for ‘Dietary energy intake, body composition and resting energy expenditure in prepubertal children with Prader–Willi syndrome before and during growth hormone treatment: a randomised controlled trial’ (Original Paper) (award collected by Renske Kuppens, pictured) • Nora Saraco (Buenos Aires, Argentina) for ‘An intron 9 CYp19 gene variant (IVS9+5G>A), present in an aromatase-deficient girl, affects normal splicing and is also present in normal human steroidogenic tissues’ (Novel Insights from Clinical Practice) Henning Andersen Prizes These awards for the most highly rated abstracts submitted to the ESPE Meeting were presented to: • Aurore Carré (Paris, France) for ‘Borealin mutations in thyroid dysgenesis reveal a new function of this protein in cell adhesion and migration’ • Klemens Raile (Berlin, Germany) for ‘KCnQ1 mutations cause both neonatal diabetes and hyperinsulinaemic hypoglycaemia of infancy’ ESPE President Poster Awards This year’s prizes for the five best posters at the meeting were awarded to: • Marta Díaz (Barcelona, Spain) for ‘Placental and cord blood DNA methylation profiling in small-forgestational-age newborns from uncomplicated pregnancies: relationship to prenatal growth and postnatal body composition’ (P1–442) • Shota Fukuhara (Kyoto, Japan) for ‘The collapse of the BDNF/POMC system in the hypothalamus is responsible for the extreme obesity with hyperphagia observed in female heterozygous MeCp2 null mice’ (P1–443) • Franziska Käßner (Leipzig, Germany) for ‘The impact of activating piK3Ca mutations and pten haploinsufficiency on human adipocyte phenotype and biology’ (P1–445) • Johanna Känsäkoski (Helsinki, Finland) for ‘Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene’ (P1–335) • Jayna Mistry (London, UK) for ‘The mechanistic role of fibroblast growth factor 21 (FGF21) in growth hormone resistance secondary to chronic childhood conditions’ (P1–593)
News
Grants
IFCAH-ESPE Grants The following awards were made for research into congenital adrenal hyperplasia (CAH): • Anne Bachelot (Paris, France) for ‘Prospective study of pregnancy outcomes in women treated early by dexamethasone for CAH’ (€50 000) • Hedi Claahsen-van der Grinten (Nijmegen, The Netherlands) for ‘The aetiology and characteristics of testicular adrenal rest tumours’ (€66 000) • Gerard Conway (London, UK) for ‘Optimising fertility outcomes for women with CAH – an assessment of endometrial function and pregnancy complications’ (additional €100 000) • Leonardo Guasti (London, UK) for ‘Study of CAH adrenocortical cells reprogrammed from urine: a step towards cell therapy’ (€100 000) • Laetitia Martinerie (Paris, France) for ‘Sodium wasting, water balance and fludrocortisone needs in CAH: the NaCAH Study’ (€72 000) • Richard Ross (Sheffield, UK) for ‘Adrenal crisis emergency spray: dexamethasone and fludrocortisone via the nasal route [part 2]’ (€60 000) ESPE Research Unit Grant Three awards of €30 000 per year for 2 years have been made to the following recipients, to facilitate collaborative research in paediatric endocrinology: • Laura de Graaff (The Netherlands), Sabine Elisabeth Hannema (The Netherlands), Martine Cools (Belgium), Gary Butler (UK), Jesus Argente (Spain) for ‘YESS! Introduction of the Young Endocrine Support System in the transition from paediatric to adult endocrine care’ • Magdalena Stefanija Avbel (Slovenia), Liat de Vries (Israel), Taneli Raivio (Finland) for ‘Identification of novel genetic causes of familial central precocious puberty’ • Gabor Szinnai (Switzerland), Johnny Deladoëy (Canada), Michel Polak (France), Heiko Krude (Germany), Paul van Trotsenburg (The Netherlands) for ‘Improvement of diagnostic work up for congenital hypothyroidism by a multigene NGS panel: a multicentre study to compare diagnostic accuracy and cost effectiveness’
ESPE Activities
Bringing you recent highlights from the world of research
ESPE Activities
ESPE: supporting endocrine science
THE 10TH ADVANCED SEMINAR (pictured) discussed ‘Developmental biology of gastrointestinal hormones’. The programme attracted 40 participants and speakers from 13 European countries and the USA. Participants and speakers examined developments in gastro intestinal endocrinology with respect to child health. The wide-ranging programme looked at the role of gastrointestinal hormones in growth, bowel disease, the CNS and bariatric surgery. It featured topics as diverse as the development of sweet taste perception, the impact of gut microbiota on enteroendocrine function, and new pharmacological approaches for the treatment of diabetes and obesity. You can find the full programme at www.eurospe.org/education/DevEndoSeminar/ 2016/2016Programme.pdf. Gastrointestinal endocrinology is a fairly new field of interest for physicians and scientists in paediatric endocrinology. The gut is the largest endocrine organ in the body, since many hormones are produced in gastrointestinal endocrine cells. The gastrointestinal hormones act via autocrine, paracrine and endocrine pathways, and can regulate digestion, hunger and satiety. They have clinically relevant importance in the regulation of growth, weight and metabolism, as well as mood and behaviour. Knowledge of the developmental biology of gastrointestinal hormones therefore helps Your Science Committee The Science Committee supports ESPE’s educational and grant programmes in science, as well as networks and databases for collaborative projects. It also handles enquiries about scientific matters, and lobbying. Its executive members are: Faisal Ahmed (Chair) Martine Cools (deputy Chair) Nicolas De Roux (Science Workshop Convenor) Martin Wabitsch (Science Workshop deputy Convenor) Irène Netchine (Research unit Convenor) Olaf Hiort (early Career Scientific development award Convenor) Outi Mäkitie (Mid-Career Scientific development award Convenor) Katharina Main (Research Fellowship Convenor) The Committee is also supported by ex-officio members and an expert panel, which reviews applications for grants and activities. To contact members of the Committee, see www.eurospe.org/about/committees/ committees_scientific.html. Funding and grants ESPE provides a range of grants for research in endocrine science. See www.eurospe.org/science for details of the following awards: • Early Career Scientific Development Award – next deadline 31 January 2017 • Mid-Career Scientific Development Award – next deadline 4 december 2016 • ESPE Research Unit – next deadline 28 February 2017 • IFCAH-ESPE Grant* • Research Fellowship* *Future deadlines to be confirmed ESPE: supporting endocrine science www.eurospe.org/science us understand the physiology and pathophysiology of the growing organism in many respects. Recent developments have also led to new diagnostic tools and new pharmacological interventions. Physicians and scientists in paediatric endocrinology and diabetes will deal intensively with gastrointestinal endocrinology in the future. Consequently, summaries of the lectures from the seminar will be published in the Karger series endocrine development (www.karger.com/endev).
ESPE Activities
Autophagy: Nobel-winning research
with implications for endocrinology
YOU MAY HAVE HEARD IN THE NEWS that the 2016 Nobel Prize in Physiology or Medicine has been awarded to Yoshinori Ohsumi, a Japanese cell biologist at the Tokyo Institute of Technology, for his discoveries of mechanisms of autophagy. The word ‘autophagy’ originates from two Greek words meaning ‘self-eating’. This concept was recognised in the 1960s, when researchers first observed that cells could digest and recycle parts of their own content, such as proteins and damaged organelles. The mechanism and physiological relevance of autophagy remained poorly understood for decades until 1993, when Ohsumi published the discovery of as many as 15 genes essential for the activation of autophagy in eukaryotic cells. He also studied the function of the proteins encoded by key autophagy genes, elucidating the process’s complex machinery. As autophagy is well conserved from yeast to humans, Ohsumi’s discoveries have also provided the necessary tools to enable the appreciation of its important role in diverse physiological and disease processes. Thanks to Ohsumi’s work, we now know that autophagy participates in the cellular response to starvation and other types of stress. It also contributes to embryogenesis and cell differentiation. After infection, autophagy can eliminate invading intracellular bacteria and viruses. Autophagy is also thought to be a critical mechanism for counteracting some of the negative consequences of ageing. Disturbances in the autophagic machinery have been linked to Parkinson’s disease, cancer and type 2 diabetes. Furthermore, single gene disorders in the autophagy pathway are an emerging, novel and diverse group of multisystem diseases in children. From the perspective of endocrinology, autophagy has been shown to play an important role in regulating the normal function of pancreatic β-cells and insulin-target tissues, such as skeletal muscle, liver, and adipose tissue. Enhanced autophagy acts as a protective mechanism against oxidative stress in these tissues. Altered autophagic activity has been implicated in the progression of obesity to type 2 diabetes, through impaired β-cell function and development of insulin resistance. Autophagy could therefore represent an attractive target for therapeutic interventions against obesity and diabetes. María Salomón Estébanez Further reading Takeshige et al. 1992 Journal of Cell Biology 119 301–311. Tsukada & Ohsumi 1993 FeBS Letters 333 169–174. Mizushima et al. 1998 nature 395 395–398. Ichimura et al. 2000 nature 408 488–492
ESPE Reviews
ESPE is now more than 50 years old. Your Society has been uniting paediatric endocrinologists ever since its formation,
aiding communication and education and improving patient care. In this article, we look back at the Society's formative
ESPE Reviews
Achieving
more together
improving standards of clinical care and practice. It achieves this through guideline development, providing good information and specific clinical training. The Committee comprises an elected Chair (who also sits on the ESPE Council), along with five other members, who are clinical paediatric endocrinologists representing a wide area of practice and expertise, including diabetes. Everyone has a portfolio and series of tasks, allocated by self-suggestion or committee discussion. We meet face to face annually at the ESPE Meeting, and occasionally in between. We also have teleconferences every 3 months and communicate by email at other times – especially when issues or urgent problems crop up. As CPC Chair, I really enjoyed making new contacts across all the paediatric endocrine societies worldwide, as we worked together on common ventures such as I WAS ATTRACTED TO ESPE’s Clinical Practice Committee (CPC) because I like being able to move clinical care forwards. Sometimes that means working with others to share understanding and create guidelines. I had some experience of doing this locally, then through the British Society for Paediatric Endocrinology and Diabetes (BSPED). I was appointed as an ordinary CPC member initially, but I felt I had ‘unfinished business’, so when the vacancy for Chair arose, I decided to apply. The CPC is important because it is responsible for one of ESPE’s main objectives: ESPE Clinical Practice Committee 2010–2016 as gary Butler stands down after 6 years as Chair of eSpe’s Clinical practice Committee, he reflects on the satisfaction of working with others to improve clinical care. ‘Sitting round a table together with colleagues from all parts of the world is truly awesome, but so friendly!’ consensus meetings and guidelines. It made me realise that we all have common ideals and that we can achieve so much more by working together. Establishing the Intersociety Clinical Guidelines Committee, now part of the International Consortium of Pediatric Endocrinology, and sitting round a table together with colleagues from all parts of the world is truly awesome, but so friendly! In future, I hope that the CPC will continue to involve ESPE members and others in the ongoing improvement of clinical practice, and that more people become involved. If you have a passion to develop or improve an area of care then please get in touch. The new team under Evangelia Charmandari will appreciate your ideas. Don’t be shy to come forward. Gary Butler Former Chair, Clinical practice Committee
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