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SINCE THE LAST ISSUE of the ESPE Newsletter, the very successful ESPE Science School and Advanced Seminar in Developmental Endocrinology have taken place. The programme for the rest of 2015 is just as full as the first half of the year has been, with the ESPE Summer School, Caucasus & Central Asia School, Maghreb School and ASPED-ESPE School all to come. Visit www.eurospe.org to view our full programme and sign up for activities. Many thanks to those of you who completed our recent communications survey. The recently formed Communication Committee, chaired by George Chrousos, is using your valuable feedback to review all our communications with you. ESPE 2015 promises to be another wonderful event for your diary. Don’t forget to visit us at ESPE Connect, stand 18. Come along to find out about all the latest activities and programmes that ESPE offers. We’ll be on hand to answer any questions you may have about your Society, and we always like to hear your feedback. Members from Council will also be available for you to speak to. Along with membership, we have a dedicated area for our e-learning programme and a networking area for you to meet up with colleagues. You’ll also be able to pick up your copy of the Yearbook of Pediatric Endocrinology. Remember you can contact us at [email protected] if you have any questions about your Society. Don’t forget to follow us on Facebook (www.facebook.com/EuroSPE) and Twitter (www.twitter.com/EuroSPE) for all the latest Society and Meeting news. We look forward to meeting you in Barcelona!
THIS NEW FREE APP allows the calculation of age-corrected Z-scores for testicular volume. Based on orchidometer and ultrasonography data from 769 healthy Dutch boys aged 0–19 years (Joustra et al. 2015 Acta Paediatrica 104 e271–e278), the app aids in the diagnosis and follow-up of disorders of male puberty and testicular pathology. It is only available for Apple devices, but an Excel-based tool is available upon request. Additionally, growth charts for clinical practice can be downloaded from http://tinyurl.com/GrowthChartsNetherlands.
The Australasian Paediatric Endocrine Group (APEG) was formed in 1982 as an initiative of Norman Wettenhall in Melbourne, Australia. The Society now has over 200 members in Australia and New Zealand, including paediatric endocrinologists, paediatric endocrine fellows, endocrine and diabetes nurses, scientists and dietitians, among other health professionals. The Society has six subcommittees and three working groups to address specific issues in paediatric endocrinology: OZGROW (growth hormone (GH) research) Growth Hormone Advisory Committee (GH treatment) Diabetes Registry (epidemiology of diabetes) Diabetes Subcommittee (diabetes management) Bone and Mineral Hyperinsulinaemia Disorders of Sex Development Training and Education Annual Scientific Meeting Programme Committee This year, the Society is holding its 34th Annual Scientific Meeting as a joint meeting with the International Society for Pediatric and Adolescent Diabetes (ISPAD). This meeting, known as ISPAD+APEG 2015 ‘Leaping the barriers’ will be held in Brisbane, Australia, on 7–10 October 2015 (see www.ispadapeg.com). The 13th Annual Clinical Fellow School will also take place in Brisbane, on 10–12 October 2015
Bringing you recent highlights from the world of research
The effect of thyroid hormone on the brain IT HAS LONG BEEN KNOWN THAT thyroid hormone is essential for brain development, but the evidence came almost entirely from animal models, particularly rodents. Advanced neuroimaging technologies have now made it possible to study thyroid hormone’s role in the developing human brain. My findings are from structural and functional magnetic resonance imaging (MRI) of two human conditions giving rise to an early lack of thyroid hormone, albeit at different stages of gestation and early life: maternal and congenital hypothyroidism. I use these models to identify critical periods when certain brain structures (or regions within them) need thyroid hormone. Findings from my lab show that children affected by maternal or congenital hypothyroidism display differences in: (a) size and atypical functioning of different hippocampal areas, (b) patterns of cortical thinning and thickening across the brain, and (c) abnormalities within different segments of the corpus callosum. In my talk, I will relate these findings to some of the mechanisms that are known to be disrupted in animals when thyroid hormone is insufficient. I will also examine the relationships between effects on human brain and known outcomes, namely weaknesses in memory, visual and verbal processing, and executive abilities, as measured by clinical tests and questionnaires regarding everyday functioning. Joanne Rovet, Toronto, Canada (Learn more by attending talk S1.1 on 1 October at 14.00) Genetic and environmental disruption of testicular function APPROxIMATELY 1 CHILD IN 4000 is born with atypical appearance of their genitalia, as part of a more or less well defined disorder of sex development (DSD). Due to improved medical knowledge and better classification, the aetiology and pathophysiology behind a growing number of these cases have been clarified, but for most the cause still remains obscure. So there are growing insights into the functional consequences for sex differentiation of chromosomal aberrations and defined genetic defects. However, many cases of DSD seem to be associated with environmental rather than genetic causes. Data to support this come from the recently observed reduction in human male fertility in parallel with observations of poorer semen quality in young adult males. Congenital abnormalities in boys such as cryptorchidism and hypospadias also appear to be increasing. Reported regional variations in these findings strengthen the possible association with environmental factors. Endocrine-disrupting chemicals (EDCs) is the term used for an expanding number of exogenous chemicals with the ability to influence the endocrine system. EDCs have been firmly associated with worldwide observations of reproductive dysfunction in different species of wildlife, and there is emerging evidence for such associations in humans as well. In experimental models, EDCs have been found to disrupt gonadal maturation and function, with a particular vulnerability of the testis. Androgen production by Leydig cells is critical for normal male pre and postnatal testicular development and constitutes a potential target for EDC action. My presentation will give an overview of the concept of environmental disruption of testicular function, with a focus on the possible role of some defined EDCs. Olle Söder, Stockholm, Sweden (Learn more by attending talk S3.3 on 1 October at 15.00) FIGURE Sample MRI results from Rovet (S1.1): (A) small hippocampus in a child born to a mother with severe hypothyroidism throughout pregnancy, (B) hippocampus of a child born to a mother who was euthyroid in pregnancy, (C) abnormally shaped corpus callosum in a child with congenital hypothyroidism, (D) characteristic corpus callosum shape in a control child. (E) Children born to women with hypothyroidism during pregnancy show increased bilateral hippocampal activation relative to control children on functional MRI (fMRI) using an autobiographical memory paradigm. (F) Children with congenital hypothyroidism show increased left hippocampal activation relative to control children on fMRI with autobiographical memory paradigm
DISORDERS OF SEx DEVELOPMENT have attracted increasing attention over the past decade, leading to improved understanding of the underlying pathophysiology. The genetic background has been elucidated, along with the importance of complex epigenetics and gene dosage effects. Whole exome sequencing, first used to identify the genes involved, is now increasingly used in clinical investigation of patients with complex variations in sex development who evade diagnosis by typical endocrine means. The development of interdisciplinary teams has led to the growing involvement of patients and parents in decision-making concerning investigation and treatment. With increasing knowledge of both somatic and psychological development in patients, there has been a shift in how sex differences are perceived, from categorical to continuous variants in body and brain development and in gender identity. This has affected treatment and care. There is also greater discussion around the ethics of medical care for children with DSD. Knowledge of gonad development, germ cell cancer and tumour risk in different forms of DSD is improving. Ethics and legislation Governmental or related organisations have published documents on the ethical, legal and regulatory aspects of the care of individuals affected by atypical sex development. These include the German Ethical Committee’s publication Intersex in 2012, the World Health Organisation white paper Report of the Special Rapporteur on Torture and other Cruel, Inhuman or Degrading Treatment or Punishment in 2013, and the Swiss Ethics Committee’s Variants in Sexual Development in 2013. These papers have resulted in intensified discussion about the ethics of, indications for and timing of genital surgery. Advocacy groups for informed choice by individuals with variant genital anatomies have stated that cosmetic surgery should not be performed without the affected person’s full informed consent. The ESPE DSD Working Group responded to the documents and welcomes an open discussion. Changes in legislation have taken place (or are ongoing) in Australia, Germany and Sweden. Hormonal and gender testing in the context of sport for individuals with DSD has attracted public attention recently, leading to discussions that affect the general public’s knowledge of DSD, and will eventually have an impact on how we care for patients. Recent publications on DSD Exome sequencing for the diagnosis of 46,XY DSD Baxter et al. 2015 Journal of Clinical Endocrinology & Metabolism 100 E333–E344 Extensive tables with known genes involved in DSD are accompanied by a description of how whole exome sequencing can be used for first tier diagnostic investigation. Using this approach in 40 patients, the authors identified a likely genetic cause in over a third of cases where no genetic aetiology had otherwise been determined. New genes can be included in the analysis over time. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX DSD Kim et al. 2015 Journal of Medical Genetics 52 240–247 Specific regions upstream of SOX9 are important for male and female development, illustrating the importance of copy number variation. Deletions in one region, designated xYSR, caused gonadal dysgenesis and 46,xY DSD, while duplications or triplications in an adjacent region, designated xxSR, caused 46,xx DSD. The SRY responsive subfragment from the xYSR region may represent the missing link in the genetic cascade from SRY to SOx9 in male sex determination. Gonadal maldevelopment as risk factor for germ cell cancer: towards a clinical decision model van der Zwan et al. 2015 European Urology 67 692–701 In this review of gonadal development, the authors hypothesise that combined interactions of epigenetic and environmental factors affect embryonic gonadal development and cell maturation, resulting in germ cell cancer. This may lead to identification of relevant risk factors and prevention of germ cell cancer in patients with DSD. Understanding Differences and Disorders of Sex Development Eds Hiort & Ahmed, 2014, Karger This book is a helpful resource covering a wide spectrum of aspects of DSD from genetics to tumour risk, psychological aspects and the interdisciplinary team approach. Publications from DSD Working Group collaborations and the I-DSD registry Changes over time in sex assignment for DSD Kolesinska et al. 2014 Pediatrics 134 e710–e715 This investigation of temporal changes in the choice of sex of rearing in cases with intersex conditions found an association between the appearance of the external genitalia (judged by the external masculinisation score) and sex of rearing, and also a trend over the last 3 decades towards an increase in male sex of rearing. Novel associations in DSD: findings from the I-DSD Registry Cox et al. 2014 Journal of Clinical Endocrinology & Metabolism 99 E348–E355 About 25% of individuals with DSD conditions were found to have associated findings unrelated to the reproductive system. The prevalence was greater in disorders of gonadal development and in 46,xY DSD of unknown cause, but was also unexpectedly found among patients with androgen insensitivity syndrome. When your Baby is Born with Genitals that Look Different… www.dsdfamilies.org/docs/brochures/DSD.pdf The UK support group dsdfamilies has produced this information brochure for parents in collaboration with members of the ESPE Working Group. Clinical guidelines The UK DSD guidance document was created in 2011, and will be updated this year (see www.endocrinology.org/policy/docs/11- 07_DisordersOfSexDevelopment.pdf). The German Medical Council released a statement on the care of DSD earlier in 2015, entitled Care of Children, Adolescents and Adults with Variants/Disorders of Sex Development (see www.bundesaerztekammer.de/downloads/BAeK Stn_DSD.pdf). In addition, the results of the dsd-LIFE study, summarised below, will result in updated clinical guidelines for some forms of DSD Harmonisation of phenotyping and registration of DSD patients is being developed within the DSDNet COST Action (also see below). There is also a guideline for the exchange of high-throughput genetic data developed on a scientific basis. Working Group events and initiatives The ESPE DSD Working Group symposium in Barcelona in 2015 will be entitled ‘Endocrine and cultural issues in DSD’. Working Group members were heavily involved in the 5th International DSD Symposium which took place in Ghent, Belgium, in June 2015. A meeting jointly organised with the International Society on Hypospadias and Disorders of Sex Development (ISHID) is planned for early 2016. Training schools took place in Glasgow, UK, in 2014 and in Ghent in June 2015, and a PhD and postgraduate school on DSD was held in Copenhagen, Denmark, in April 2015. In addition, educational activities for DSD have also been developed for the ESPE e-learning programme. A global initiative to collate the past 10 years of developments in DSD began in September 2014, led by Peter Lee on behalf of the North American Pediatric Endocrine Society (PES), supported by Chris Houk and Anna Nordenström, and the other paediatric endocrine societies. Members from different paediatric societies have formed groups to review the literature and report on the advances and developments in different aspects of DSD since the Chicago conference in 2005 organised by PES and ESPE. Research activities I-DSD registry The I-DSD (International DSD) registry is a record of individuals with DSD, as well as of interested healthcare professionals and scientists. The initial prototype was funded by an ESPE Research Unit Grant and, after a period of funding by EUFP7, it is now supported by the UK Medical Research Council. I-DSD facilitates studies of the causes and effects of DSD, as well as interaction among researchers, clinicians and patient advocates, to improve the healthcare and quality of life of those affected by DSD. Such studies improve knowledge of tumour risk in different forms of DSD. The I-DSD registry is currently undergoing redevelopment to support additional research questions. I-CAH, a registry focusing on congenital adrenal hyperplasia, uses the same platform as I-DSD. COST Action DSDNet This European COST Action project represents a systematic effort to elucidate DSD, and is creating a network of interested scientists and clinicians as well as people with DSD and their advocates. Both European and international partners are included. The aim is to obtain new knowledge regarding the biological pathways of sex development, and to provide information on DSD management for physicians, psychologists and other healthcare professionals. The network promotes excellence in research on the genetic and molecular pathways of sex development. It aims to provide people with DSD with access to national centres of expertise, as well as information and peer support, and seeks to address societal and cultural issues around DSD. DSDNet has a wide range of working groups (see www.dsdnet.eu/working-groups.html). dsd-LIFE This large European clinical outcomes study encompasses various forms of DSD such as 46,xY DSD and 46,xx DSD, Turner syndrome, Klinefelter syndrome and CAH. With up to 1500 patients at 14 different sites in Europe, this is the largest DSD-focused outcomes study underway. Its aim is to improve clinical care of individuals with DSD and to provide updates and improve European guidelines for the different conditions (see www.dsd-life.eu).
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
WHEN I HEARD I WAS TO RECEIVE THE OUTSTANDING CLINICIAN AWARD, I felt incredibly pleased and honoured. I was humbled by the thought of the deserving nominees who were not chosen at this time, and felt great respect for those charged with making the choice; the criteria are complex, and there are always several candidates with outstanding achievements. I reflected on the importance of this award, as it celebrates those physicians who, throughout their careers, remain in direct contact with their patients, putting them before anything else. My background As the former head of an endocrinology department in a children’s hospital, I appreciate the constant challenge of interpreting patients’ symptoms and history, as well as ever more complex imaging data, to arrive at a satisfying diagnosis and an appropriate course of treatment. I believe I should continue to use my many years’ experience, despite retiring from my hospital post. So my clinical practice with patients continues, as I endeavour to solve cases that are difficult to diagnose, through offering my opinion, and answering questions from patients and colleagues, to the best of my ability. I have also continued my work as an educator, through lecturing to paediatricians who specialise in endocrinology, and accepting invitations to speak at many national and international conferences and workshops. Last but not least, I am also a father and grandfather, who is at times insufferable in his efforts to influence the health, height and development of his seven grandchildren! The role of clinical practice Clinical practice is without doubt the most important aspect of paediatric endocrinology, but it is only safe and beneficial when firmly based on robust evidence, from the latest findings in basic and translational science and the results of clinical trials. The most challenging aspect is O assimilating what we learn from translational research into clinical practice; this requires both understanding and creativity. In my opinion, ESPE has been crucial in supporting this endeavour for the last 50 years. Looking to the future I believe endocrinology will become a more common choice of specialty for paediatricians, as its breadth and its importance in understanding developmental processes are increasingly recognised. Progress in the field is likely to advance with increased appreciation of endocrine systems by general paediatricians, supported by their research into endocrine problems in the many organ systems governed by hormonal interplay IT HAS BEEN A PRIVILEGE to complete my first year as Winter School Co-ordinator, albeit with some anxiety as I follow in the footsteps of Malcolm Donaldson. Not only was Malcolm a superb leader and teacher, the social events are simply not the same without his guitar and enthusiastic renditions of The Beatles and Eastern European songs! The advert for Winter School 2015 attracted nearly 60 applications for the 26 places. We selected applicants from 17 countries, including 8 from the Balkans which we were targeting. I was only sorry we had to turn down so many good candidates. EWe welcomed 2 new teachers, Justin Davies (Southampton, UK) and Serap Turan (Istanbul, Turkey), who replaced Malcolm Donaldson and Angela Huebner. They joined Margaret Zacharin (Melbourne, Australia), Veronique Beauloye (Louvain, Belgium) and next year’s host tutor Vallo Tillmann (Tartu, Estonia). Our venue, the Hotel Metropol, enjoyed views to Albania across Lake Ohrid. I sincerely thank our host, Zoran Gucev, for his hard work in ensuring the event’s success, and in finding such a reasonably priced hotel so that we were comfortably within budget. The very full teaching schedule covered all the major endocrine systems relevant to paediatrics. Margaret Zacharin gave a presentation on late effects of childhood cancer treatment, and we had a session on research and audit. Student feedback was good, with the interactive teachers’ cases scoring very highly, as always. We also enjoyed a half-day excursion around the lake, with a dinner at sunset by the shore. Next year’s Winter School will be hosted by Vallo Tillmann in Estonia. I encourage all trainees in Eastern Europe who are committed to a career in paediatric endocrinology to apply. We will particularly welcome applications from those in the Baltic States, Russia, Belarus, Poland and Ukraine.
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