Issue 38 – Winter 2017
Issue 38 - Winter 2017
Bringing The Latest In Paediatric Endocrinology To You
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Editorial
Welcome
Welcome continued from page 1 Highlights from the Yearbook of Pediatric Endocrinology can be found on page 6, thanks to the editors Ze’ev Hochberg and Ken Ong. They have singled out two outstanding papers, one on height variation and the other on the genetic background to type 2 diabetes. ESPE is now over 50 years old. On page 7 we look back at the early years – it is truly inspirational to see how far we have progressed since 1962. Much of ESPE’s history is captured in the book ESPE – The First 50 Years, edited by Wolfgang Sippell, published by Karger and available at www.karger.com/Book/Home/255429. ESPE activities continue apace, and you can find out about the new ESPE Science Symposium and the latest news from the ESPE e-Learning portal below. I would strongly encourage you all to make use of your free access to the e-Learning portal which is a fantastic teaching resource. Page 5 includes an update on the extremely productive work of the Clinical Practice Committee. Please do send us your own news to include in future issues, as well as suggestions for topics that you would like us to cover. Yours sincerely, Dr Sarah Ehtisham, Editor, ESPE Newsletter Sarah.Ehtisham@mediclinic.ae
News
Intro
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News
ESPE update
WE WERE THRILLED TO BE PART of the 10th International Meeting of Pediatric Endocrinology in Washington, DC, in September. It was a pleasure to catch up with many of you there, both at the ESPE Stand and during Society meetings. We hope you also had a chance to explore the city. During this year’s Annual Business Meeting (ABM), we welcomed two new members to the ESPE Council: Agnès Linglart (Paris, France) as Chair of the Strategic and Finance Committee and Asma Deeb (Abu Dhabi, UAE) as Chair of the Communications Committee. Congratulations also go to Faisal Ahmed (Glasgow, UK) who was elected for a second term as Chair of the Science Committee. Thank you to all who voted. With exciting plans for the year ahead, opportunities to be involved in our committees are advertised at www.eurospe.org/about/vacancies. We currently have vacancies on the Clinical Fellowship Committee and the Summer School Steering Committee, so please do apply to espe@eurospe.org by 30 November if you’d like to become more involved in the ESPE community. Members voted for the location of the ESPE Meeting in 2022 during the ABM. We now eagerly await a wonderful meeting in Rome, Italy, with Stefano Cianfarani as President. Meanwhile, the current Programme Organising Committee is busy putting together a packed programme for ESPE 2018 (on 27–29 September in Athens, Greece). The meeting’s topic is ‘Narrative and precision medicine in paediatric endocrinology’. You will be able to submit an abstract or register as a delegate at www.espe2018.org very shortly. Having celebrated a host of deserving award winners in Washington, we look forward to receiving nominations for next year’s awards (see www.eurospe.org/grants awards/awards). The deadline is 10 December 2017. Awards include prizes for researchers and clinicians at different stages of their careers, both within Europe and internationally. As always, we welcome your feedback, so do feel free to get in touch (www.eurospe.org/ contact). Thank you for all your comments about our new website. It makes the hard work from those involved all the more worthwhile! Hannah Bonnell, Joanne Fox-Evans and Laura Dudley, ESPE Team
News
ESPE Science
Symposium
UP TO €30,000 IS AvAILABLE for the organisation of the 2018 ESPE Science Symposium. Aimed at paediatric clinicians and basic researchers, this brand new initiative seeks to promote the dissemination of new scientific knowledge within the paediatric endocrinology community, closing the gap between research and patient care. Applications to host the meeting are now open and ESPE members are invited to apply. For applications and further information, see www.eurospe.org/education/espe-science-symposium. The deadline is 30 November 2017.
News
e-Learning news
THE ESPE e-LEARNING WEB PORTAL provides an interactive learning
environment for up to date information in paediatric endocrinology.
Medical students, residents, fellows, specialists, consultants and
teachers around the world can share and develop knowledge in a
flexible way.
Recent updates include a new case in the section on thyroid
disorders, entitled ‘A 16-year-old girl with a thyroid nodule’, which
considers the investigations that should be undertaken. The sections
on growth and growth regulation and on disorders of sex development
have also been updated recently, as has the student course area.
You can register free of charge
and find out what is available at
News
ESPE Hormone Research in Paediatrics Prizes
These prizes for the best original papers published in Hormone Research in Paediatrics were
presented by Stefano Cianfarani to:
• Kerstin Albertsson-Wikland (Gothenburg, Sweden) for Demir et al. ‘First morning voided
urinary gonadotropin measurements as an alternative to the GnRH test’ (2016 85 301–308;
Original Paper)
• Jan Lebl (Prague, Czech Republic) for Stoklasova et al. ‘A rare variant of Turner syndrome in
four sequential generations: effect of the interplay of growth hormone treatment and estrogens
on body proportion’ (2016 86 349–356; Novel Insights from Clinical Practice)
News
IFCAH-ESPE Grants
The following awards were made for research into congenital adrenal hyperplasia (CAH): • David Bréault (Boston, MA, USA) for ‘Cell-based therapy for the treatment of congenital adrenal hyperplasia’ (€120 000) • Nils Krone (Sheffield, UK) for ‘A system biology approach towards the understanding of the pathophysiology of CAH’ (€110 000) • Andreas Schedl (Nice, France) for 'Adrenal stem cells: identification, generation and culture for genetic modification' (€120 000)
ESPE Activities
Bringing you recent highlights from the world of research
ESPE Activities
ESPE Memorial
Forest 2008
AS ESPE PRESIDENT FOR THE 47th ANNUAL MEETING in Istanbul, Turkey (20–23 September 2008), I was proud, along with my team, to instigate the planting of the ‘ESPE 2008 Memorial Forest’. My intention was to create something different for the Society, which would long be remembered, to mark the first ESPE Meeting in Turkey (a land linking Europe and Asia). In order to support nature as well as science, Francesco Chiarelli (ESPE Secretary), the conference organisers and I had decided that the meeting should be as environmentally friendly as possible, minimising its carbon footprint and use of printed materials, and setting a precedent for future ESPE Meetings. What better way to improve the environment than to plant more trees? I consequently contacted the Aegean Forest Foundation and Novo Nordisk – Turkey (who partly supported the project). More than 2000 colleagues attended the meeting, which was scientifically very successful. Each delegate had a tree planted on their behalf and received a commemorative certificate. During the meeting, we increased the number of trees to over 3000, to represent future members. As far as I know, this was the first social project in ESPE’s history. The forest continues to symbolise the Society’s ‘growing’ future. It is located on the Gorece afforestation zone, 22km from the centre of Izmir, which was the location of my department at that time. Members wishing to visit or learn more should contact Sirma Buğdayci (Tel: +90 (0)232 4645160) at the Aegean Forest Foundation, which maintains the forest. She tells me the trees are growing healthily and thanks ESPE for supporting nature. Atilla Büyükgebiz, Istanbul, Turkey
ESPE Activities
ESPE Clinical Practice Committee news
THE CLINICAL PRACTICE COMMITTEE (CPC) supports paediatric endocrinologists by providing high quality evidence in an easily accessible format for ESPE members worldwide. Our main activity is the development of guidelines and consensus statements on the management of paediatric endocrine disorders. We also assist the Programme Organising Committee (POC) in planning the clinical aspects of education for the ESPE Annual Meetings, especially the ‘Meet the Expert’ sessions. In July 2016, ESPE (jointly with the European Society for Endocrinology (ESE) and the Pediatric Endocrine Society (PES)) hosted and funded a consensus meeting on Turner syndrome in Cincinnati, OH, USA. This led to the development of a new guideline, published recently in European Journal of Endocrinology (2017 177 G1–G70). Subsequently, in March 2017, ESPE (with the European Network for Human Congenital Imprinting Disorders (EUCID) and the EuroPHP Network) funded a consensus meeting on pseudohypoparathyroidism (PHP/iPPSD)). The consensus document is under development. In addition, a consensus document on the diagnosis and management of lipodystrophy syndromes was published in Journal of Clinical Endocrinology & Metabolism (2016 101 4500–4511) in December 2016, while one on the diagnosis and management of Russell-Silver syndrome was published in Nature Reviews in Endocrinology (2017 13 105–124) in February 2017. A consensus guideline on endocrine treatment of gender-dysphoric/gender-incongruent persons has just been published in Journal of Clinical Endocrinology & Metabolism (2017 102 3869–3903), while one on congenital adrenal hyperplasia due to steroid 21- hydroxylase deficiency is currently under review. At present, consensus guidelines are being developed on neonatal diabetes (jointly with the PES), as well as on the management of polycystic ovary syndrome (PCOS) (with the Australian National Health and Medical Research Council (NHMRC) Centre for Research Excellence in PCOS, the European Society of Human Reproduction and Embryology (ESHRE), and the American Society for Reproductive Medicine (ASRM)). Finally, the patient and parent leaflets are being revised with a view to extending both the topics and the languages available. I am most grateful to all members of the CPC, ESPE Council, ESPE Working Groups and international paediatric endocrinology societies, the ESPE Senior Operating Officers and the ESPE Team for their hard work, dedication and significant contributions. Evangelia Charmandari Chair, ESPE Clinical Practice Committee
ESPE Activities
Yearbook of Pediatric Endocrinology: Editors’ preview
Genetic and environmental influences on height from infancy to early adulthood Jelenkovic A et al. 2016 Scientific Reports 6 28496 BACKGROUND: Height variation is known to be determined by both genetic and environmental factors, but a systematic description of how their influences differ by sex, age and global regions is lacking. METHODS: The authors conducted an individual-level pooled analysis of 45 twin cohorts from 20 countries, including 180 520 paired measurements at ages 1–19years. RESULTS: The proportion of height variation explained by shared environmental factors was highest in early childhood, but remained detectable until early adulthood. Accordingly, the relative genetic contribution increased with age and was highest in adolescence (up to 0.83 in boys and 0.76 in girls). Comparing geographic–cultural regions (Europe, North America and Australia, and East Asia), genetic variation was highest in North America and Australia and lowest in East Asia, but the relative proportion of genetic variation was roughly similar across these regions. CONCLUSIONS: These findings provide further insights into height variation during childhood and adolescence in populations representing different ethnicities and exposed to different environments. COMMENTARY This study of 180 000 paired measurements from 86 000 complete twin pairs in 20 countries revealed that environmental factors shared by co twins contribute to the inter-individual variation in height from infancy to early adulthood, but infancy is probably the most sensitive phase regarding external influences. The relative proportion of shared environmental factors was greatest during the first years of life, representing almost half of the variation at age 1, and decreased over childhood and adolescence. The most consistent result was the increasing genetic influence with age, reaching its peak at around 13 years in girls and 14 years in boys. After that point, even if mean height continued to increase, genetic variance started to decrease so that, in late adolescence, the magnitude was similar to that before puberty. Comparison between geographic–cultural regions showed that mean height and its genetic contributions were highest in North America and Australia and lowest in East Asia
ESPE Activities
The genetic architecture of type 2 diabetes
Fuchsberger C et al. 2016 Nature 536 41–47 BACKGROUND: The genetic architecture of common traits, including the number, frequency and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes (T2DM) but, in aggregate, these explain only a fraction of the heritability of this disease. METHODS: Here, to test the hypothesis that lower frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole genome sequencing in 2657 European individuals with and without diabetes, and exome sequencing in 12 940 individuals from five ancestry groups. To increase statistical power, the sample size was expanded via genotyping and imputation in a further 111 548 subjects. RESULTS: variants associated with T2DM after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. CONCLUSIONS: Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large scale sequencing does not support the idea that lower frequency variants have a major role in predisposition to T2DM. COMMENTARY Type 2 diabetes shows strong familial clustering and high estimated (genetic) heritability, ~70% in twin studies. However, only ~10% of that genetic susceptibility has yet been explained by genome-wide association studies (GWAS), despite having data on ~50 000 cases of T2DM and even more controls. It had been proposed that the ‘missing heritability’ might lie in gene variants that are infrequent, rare or even private to sub-populations. Such variants are not captured by GWAS genotyping arrays, but instead require high depth whole exome or even whole genome DNA sequencing. Here, in a heroic international effort, Fuchsberger et al. perform such a huge undertaking in ~8000 T2DM cases and the same number of controls, but with strikingly little reward. Apart from confirming various common variant (minor allele frequency, MAF≥5%) associations with T2DM, they found only one low frequency variant associated with T2DM, at CCND2 (MAF 2.6%), and even that had been previously reported in an Icelandic study. They conclude that there is limited evidence of a role for lower frequency variants, whether protein coding (exomes) or genome-wide, in the susceptibility to T2DM. The accompanying viewpoint was pessimistically entitled ‘Diabetes: still a geneticist’s nightmare’ (Nature 536 37–38). So, where next for T2DM genetics? The findings here did provide direct reassurance that the widely used ‘GWAS-array-genotyping-followed-by-mathematical-dense-genotype-imputation’ approach does provide good coverage of the genome and – although not for the faint-hearted – give encouragement to extend that approach to even larger GWAS.
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
Six Decades Of ESPE
1962 Professor Andrea Prader, Director of the Kinderspital in Zurich, Switzerland gathered 32 paediatricians and endocrinologists to attend a small informal meeting. Prader had been disappointed by the lack of paediatric endocrinology during the annual Acta Endocrinologica Congress in the previous week. This first unofficial meeting of paediatric endocrinologists ran from 8 to 10 July 1962. Its success resulted in the formation of an unofficial ‘Paediatric Endocrinology Club’, whose members agreed to meet once yearly in a different European city. 1963 In the following year, 31 attendees from 9 countries and 20 Dutch guests gathered in Groningen, The Netherlands for a meeting organised by Hendrick (Henk) visser. During the 2-day event (for which so many papers were submitted that some had to be rejected), visser recommended the formation of a society with clearly defined membership criteria, to ‘give new impulses to paediatric endocrinologists throughout Europe’. 1964 The election of a first Council, with Hendrick visser serving as Secretary/Treasurer, took place in Hamburg, Germany. visser presented the first constitution, in Dutch, which was to be voted on at the following year’s meeting. The newly founded association was named the European Society for Paediatric Endocrinology, and 30 founding members with an active scientific interest in the field were identified to attend the subsequent meeting, which was to be the official founding meeting of the Society. 1965 In February, visser wrote to each of the proposed founding members with a copy of the draft constitution (now in English), seeking their approval. ESPE was officially founded in August 1965, with the approval of the formal constitution. The unofficial paediatric endocrinology club had become an official scientific society. Its primary aim was to ‘promote knowledge of paediatric endocrinology in the widest sense’. It was to achieve this by organising conferences and meetings, bringing people together who had an active interest in the field, arranging exchange visits between members and collaborators, promoting joint projects, and stimulating contacts with other societies – all of which ESPE continues to do to this day. 1966 It had been agreed that a yearly membership of $10 would be charged, but by the middle of the year only 12 members had paid! At this time in ESPE’s history, to become a full (Ordinary) member, it was usual to be invited to the ESPE Annual Meeting as a guest of an existing member, and subsequently to be put forward as a candidate for election at the Annual Business Meeting. The 5th ESPE Annual Meeting in Glasgow, UK, was attended by 20 members and 50 guests. It comprised four sessions with a total of just 33 presentations. 1967 Different types of presentation were introduced at the Annual Meeting. The 6th Meeting in Haifa, Israel, saw sessions with invited lectures of 20–30 minutes, as well as sessions where short papers were given, each lasting 10 minutes, with 5 minutes for discussion. The abstracts were sent to all the members before the meeting. It was around this time that the Newsletter became an important form of communication, with regular updates to members on the progress of the forthcoming ESPE Meeting. 1968 The 7th ESPE Annual Meeting in vienna, Austria, was held in collaboration with the European Club for Paediatric Research. Corresponding members (who could be based outside Europe, unlike Ordinary members) and an Honorary member were elected to ESPE for the first time. 1969 An idea to include a less formal element within the ESPE Meetings led to the introduction of two sessions for free papers at the 8th Annual Meeting in Malmö, Sweden. For the first time, there were also negotiations with a pharmaceutical company about financing a research fellowship
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