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Welcome to issue 30 DEAR FRIENDS AND COLLEAGUES Another ESPE Meeting is over, with great success. We thank Laura Audí, local organisers and the Programme Organising Committee for an excellent scientific programme and great hospitality. You can read more about the ESPE Meeting in Laura Audí’s message on this page. We congratulate all the award winners at ESPE 2015 on their achievements. You can see their photos on pages 3–4. We also congratulate the organisers of the ESPE Summer School for another very successful event. A review will follow in a future issue. We welcome Peter Clayton, the new Secretary General of ESPE, who took over from Lars Sävendahl at the meeting. By fortunate coincidence, we are pleased to present an interview with Peter Clayton regarding the Young Investigator Award that he received from ESPE in 1994 (page 6). His path from Young Investigator Award recipient to ESPE Secretary General should most certainly be motivating to young fellows Welcome continued from page 1 ESPE 2015 also provoked much attention from the international press, and below you can read about the stories from the meeting which made headlines around the globe. This is accompanied by our regular ESPE Update, which brings you the latest news from the world of ESPE. Our Research Update on page 5 brings more news from the ESPE Working Groups. In this issue, the Bone and Growth Plate Working Group highlight recent scientific developments, which will be useful to colleagues with an interest in this field. Sadly, Michel L Aubert, one of the pioneers of paediatric endocrinology, passed away recently. We include a tribute to him on page 7, and express our deep condolescences to his family and colleagues. May I wish you all continued fruitful studies. Yours sincerely, Professor Feyza Darendeliler Editor, ESPE Newsletter [email protected]
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IT WAS FANTASTIC to see so many of you at the ESPE Connect stand during ESPE 2015 in Barcelona. There were lots of familiar faces and many new ones too, with 25 new members joining during the meeting. Our ‘Quiz the Council’ sessions enabled you to meet your Council members. Visit our new web page at www.eurospe.org/about/ council.html to find photos of Council members and the ESPE Team. Alongside the scientific programme, there was a busy schedule of committee meetings. We thank those of you who are involved in ESPE’s committees, which are all essential for keeping the Society moving in the right direction. We held a fantastic update session on our education and training activities, with many delegates attending to hear about the vast programme of events (see our new-look news alerts, Facebook and Twitter for updates). A video of the session will be available soon on the ESPE website. During the Annual Business Meeting (ABM) in Barcelona, Annette Grüters-Kieslich was elected to be Peter Clayton’s successor as Chair of the Corporate Liaison Board, as Peter steps into the role of Secretary General. ESPE 2020 will be held in Liverpool, with Mehul Dattani as its President, following the election at the ABM. Remember, to learn how you can become more involved with ESPE, or to answer any questions about your membership, please contact us at [email protected]. Follow us on Facebook and Twitter for all the latest Society and ESPE Meeting news. Finally, the deadline for nominations for the 2016 ESPE Awards is 10 December 2015, so please submit your proposals before then. See www.eurospe.org/awards to find out more
RESEARCH PRESENTED AT ESPE 2015 received unprecedented levels of attention from the world’s media. In the week of the conference, items from the meeting were reported in over 860 individual news stories in 26 different languages. Press releases circulated by the ESPE office generated particular interest in three studies: • Asthma medications during infancy linked to stunted growth (Antti Saari, Kuopio, Finland) • Discovery of an association between height and cancer (Emelie Benyi, Stockholm, Sweden) • Creation of insulin-producing cells that may treat diabetes (Philippe Lysy, Brussels, Belgium) Press coverage highlights included (with numbers of unique website visitors): • MSN Nieuws (>330m) Langere mensen grotere kans op kanker • Noticias de Salud (>175m) Large-scale Swedish study discovers link between height and cancer • The Guardian (>37m) Taller people more likely to get cancer say researchers • WebMD (>34m) Asthma medication used in babies tied to stunted growth? • BBC News (>16m) Asthma steroids ‘could stunt growth’ plus Study supports cancer link with height • New Scientist (>0.5m) Rebooted pancreas cells could ease type-1 diabetes
Professor Peter Clayton (Manchester, UK) began his term as ESPE Secretary General at the recent ESPE Meeting in Barcelona. You can read more about Peter on page 6. Our grateful thanks are extended to Professor Lars Sävendahl for the huge amount of work and support he has given ESPE during his time as Secretary General, and we wish him well for the future
These prizes for the best original papers published in Hormone Research in Paediatrics were awarded to: • Miranda de Jong (Dordrecht, The Netherlands) for ‘Components of the metabolic syndrome in early childhood in very-low-birth-weight infants’ (Original Paper) • Kanetee Busiah (Paris, France) for ‘Human pancreas endocrine cell populations and activating ABCC8 mutations’ (Novel Insights from Clinical Practice
ESPE Young Investigator Awards These awards for young paediatricians, in recognition of their scientific publications, were presented by Jan Lebl to: • Andrew Dauber (Cincinnati, OH, USA), whose award lecture was entitled ‘Insights from genomic investigations into paediatric endocrine disorders’ • Tulay Guran (Istanbul, Turkey), whose award lecture was entitled ‘A long journey from phenomics to genomics’ ESPE Hormone Research in Paediatrics Prizes These prizes for the best original papers published in Hormone Research in Paediatrics were awarded to: • Miranda de Jong (Dordrecht, The Netherlands) for ‘Components of the metabolic syndrome in early childhood in very-low-birth-weight infants’ (Original Paper) • Kanetee Busiah (Paris, France) for ‘Human pancreas endocrine cell populations and activating ABCC8 mutations’ (Novel Insights from Clinical Practice) Henning Andersen Prizes These awards for the most highly rated abstracts submitted to the ESPE Meeting were presented by ESPE President, Laura Audí, to: • Sasha Howard (London, UK) for the Best Abstract in Basic Science, ‘Mutations in IGSF10 cause self-limited delayed puberty, via effects on GnRH neuronal migration’ • Jesús Argente (Madrid, Spain) for the Best Abstract in Clinical Science, ‘A new syndrome associated with mutations in the gene for pregnancy-associated plasma protein A2 (PAPP-A2) causing proportionate short stature, high circulating IGF-1, IGFBP-3, and ALS, mild microcephaly, thin long bones and decreased bone mineral density in two unrelated families’ ESPE President Poster Awards This year’s prizes for the five best posters at the meeting were awarded to: • Hanna Moeller (Hannover, Germany) for ‘The Eap1 promoter is differentially methylated at the onset of puberty in normal weight and obese female rats’ (P1–136) • Ayrton Moreira (Sao Paulo, Brazil) for ‘Ontogeny of the synchronisation between adrenal clock genes, adrenal steroidogenesis-related genes and the circadian rhythm of the HPA axis in rats’ (P1–2) • Mesut Parlak (Antalya, Turkey) for ‘Serum neurokinin B level can be used to differentiate central precocious puberty from premature thelarche’ (P1–111) • Viviana Dora Patianna (Modena, Italy) for ‘Human placenta-derived mesenchymal stem cells: a novel protocol for pancreatic differentiation’ (P1–26) • Daniele Tessaris (Turin, Italy) for ‘GH excess in McCune–Albright syndrome’ (P1–98) ESPE Research Unit Grant This grant, designed to facilitate collaborative research in paediatric endocrinology, has been awarded to Erica van den Akker (Rotterdam, The Netherlands), Evangelia Charmandari (Athens, Greece) and Christa Flück (Bern, Switzerland) for their study ‘In search of novel monitoring tools to detect chronic over- or undertreatment in children with CAH
Bringing you recent highlights from the world of research
IN RECENT YEARS, the use of next generation sequencing has identified the genetic causes of several rare skeletal disorders, including genetic causes of idiopathic short stature, skeletal dysplasias and osteoporosis. Recent publications in the field WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta Laine et al. 2013 New England Journal of Medicine 368 1809–1816 This report identifies human skeletal diseases associated with mutations in WNT1. In ten family members with dominantly inherited, early-onset osteoporosis, a heterozygous missense mutation in WNT1 was detected. In a separate family with two siblings affected by recessive osteogenesis imperfecta, a homozygous nonsense mutation was detected. In vitro, aberrant forms of the WNT1 protein showed impaired capacity to induce canonical WNT signalling, their target genes, and mineralisation. In mice, Wnt1 was clearly expressed in bone marrow, especially in B-cell lineage and haematopoietic progenitors. Lineage tracing identified the expression of the gene in a subset of osteocytes, suggesting the presence of altered cross-talk in WNT signalling between the haematopoietic and osteoblastic lineage cells in these diseases. Short stature, accelerated bone maturation and early growth cessation due to heterozygous aggrecan mutations Nilsson et al. 2014 Journal of Clinical Endocrinology & Metabolism 99 E1510–E1518 Most children with idiopathic short stature (ISS) have a delayed bone age (BA). ISS with advanced BA is far less common. In this article, the authors studied three families with autosomal dominant short stature, unexplained BA acceleration, and premature growth cessation. They found that this rare form of ISS is caused by mutations in the aggrecan gene. The findings indicate that aggrecan mutations can present as autosomal dominant short stature with advanced BA and early growth cessation. The results expand the spectrum of aggrecan defects and provide a molecular genetic aetiology for the unusual child with short stature and accelerated skeletal maturation. Clinical guidelines – an update The diagnosis of osteoporosis in children The International Society for Clinical Densitometry (ISCD) 2007 Pediatric Official Positions define osteoporosis in children on the basis of fracture history and low bone density, adjusted as appropriate for age, gender and body size. The Task Force on Fracture Prediction and Osteoporosis Definition has reviewed these Positions and suggests modifications with respect to vertebral fracture and the definition of a significant fracture history, and draws attention to the need to consider degree of trauma as a factor that may modify fracture risk prediction. Read more in: Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2013 Pediatric Official Positions Bishop et al. 2014 Journal of Clinical Densitometry 17 275–280 RESEARCH UPDATE: Bone and growth disorders ESPE Bone and Growth Plate Working Group Co-ordinator Ola Nilsson brings you up to date with advances in the field, in our regular research update. Diagnosis of GNAS mutation-negative pseudohypoparathyroidism The European Consortium on Pseudohypoparathyroidism (EuroPHP Consortium) is funded by ESPE. Its aim is to promote collaborative research and establish clinical consensus, and it has recently published these new guidelines. Read more in: European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study Garin et al. 2015 European Journal of Human Genetics 23 438–444; corrigendum at 560 Worldwide Consensus Conference on the Prevention of Rickets Following endorsement by all paediatric endocrine societies and with the support of experts from nutrition, epidemiology and health economics, as well as the ESPE Clinical Practice Committee, the consensus conference was held in Birmingham in May 2014 (as reported in ESPE Newsletter issue 25). The consensus papers are under preparation and will be published in the coming months. A follow-up public health questionnaire study of rickets and osteomalacia prevention in Europe is ongoing. Other initiatives The COST action BM1208 recently held a consensus meeting on Silver Russell syndrome (diagnosis and treatment), with the help of a number of societies including ESPE and the European Society of Endocrinology. The action will conduct a consensus process for Beckwith-Wiedeman syndrome in 2016. A consensus conference for pseudohypoparathyroidism is planned for 2017. Events in the field The ESPE Bone and Growth Plate Working Group held a successful symposium at ESPE 2015 in Barcelona in October. The 3rd European Imprinting School will take place in 2016; information will be available at www.imprinting-disorders.eu/?page_id=3105. The 7th International Conference on Children’s Bone Health will take place in Salzburg, Austria, on 27–30 June 2016. See www.iccbh.org for further details. Ola Nilsson, Co-ordinator, [email protected]
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’s new Secretary General, Peter Clayton (Manchester, UK), was the second recipient of the ESPE Young Investigator Award (YIA), in 1994. The award was made on the basis of his work on the late endocrine effects of childhood cancer, supported by over 15 manuscripts published between 1987 and 1993 in prestigious journals such as The Lancet, Pediatric Research, Journal of Clinical Investigation, British Medical Journal and Journal of Pediatrics. We asked Professor Clayton to share his thoughts on the development of paediatric endocrinology, the importance of ESPE and the impact of his YIA on his career – as well as the award’s value to others. Peter’s background Before receiving his YIA, Peter had spent a period as a Medical Research Council Travelling Fellow at the Department of Endocrinology and Metabolism in the University of Virginia Medical Center (1990–1991) and then as a Postgraduate Research Fellow in Paediatric Endocrinology at Royal Manchester Children’s Hospital (1991–1992). At the time of the award, he was a Lecturer in Child Health and Paediatric Endocrinology at the University of Manchester. He is now Professor of Child Health and Paediatric Endocrinology, University of Manchester, and Honorary Consultant Paediatrician, Royal Manchester Children’s Hospital and the Christie Hospital, and Director of the Institute of Human Development, Faculty of Medical and Human Sciences, also at the University of Manchester. His main research interest is normal and disordered growth, focusing on clinical, biochemical and molecular aspects, including pharmacogenomics. How has paediatric endocrinology evolved since you received your YIA? I went to the USA in 1990–1991 to get training in molecular biology, as these techniques were coming into use widely in endocrine research. Since then, we have seen an incredible pace of molecular development. In 1990, it would take several days from the extraction of mRNA from a cell model to determining whether treating those cells with a hormone had changed levels of that single mRNA. Now you can measure every mRNA in a cell within hours. In the clinic we could only confirm a few diagnoses by molecular tests; now, with exome/genome sequencing, we have the ability to find a specific diagnosis in many of the children with rare diseases that we see. But what hasn’t changed is the need to understand the basics of growth and hormone action, to take a proper history, to listen to families and to examine comprehensively, so that you have really good phenotyping. These remain essential skills. Why should young investigators apply for the award? External, peer-reviewed, recognition of your work with an award is not only a great boost to your self-esteem, but also a really important marker to your institution that your work is viewed as high quality. Any clinician with a reasonable portfolio of research work under their belt should consider applying. Why did you join ESPE, and how has it helped your career? I initially joined on my supervisors’ recommendation. Both (Steve Shalet and Tony Price) were members and attended every annual meeting. It quickly became clear to me that ESPE was exactly the right organisation for a paediatric endocrinologist. Annual meetings were really stimulating and I would always come away buzzing with new ideas. They were a great place to meet like-minded individuals, to get friendly feedback on your work, and to listen to outstanding plenary speakers in our field. ESPE has been a constant focus through my career. The Society has a very important role internationally, as a beacon for high quality clinical science, education, training and continuing professional development.
A number of children with congenital hypothyroidism (CH), generally with the thyroid gland in situ, will recover endogenous thyroid hormone production in early childhood, allowing discontinuation of levothyroxine treatment by 3 years of age. The incidence of transient CH has increased over time. However, little is known about its pathophysiology. This review by Peters and Schoenmakers focuses on the possible causes of transient CH, including genetic mutations affecting DUOX2 (an NADPH-oxidase enzyme) and DUOXA2 (its accessory protein), required for hydrogen peroxide biosynthesis in the thyroid. It also explores environmental factors, such as iodine deficiency or iodine excess during pregnancy or the neonatal period, fetal or neonatal exposure to drugs (amiodarone or maternal antithyroid drugs), maternal thyrotrophin receptorblocking antibodies or infantile haemangiomas as possible causes of transient CH. The authors urge further studies to evaluate the role, alone or in combination, of genetic, environmental and demographic factors in the development of transient CH.
Transfer of patient care from the paediatric team to an adult service is not always easy. Numerous publications, opinion papers and reviews have touched upon medical, psychosocial, financial and societal issues in regards to how, when and with which aim transition of care should be achieved. Importantly, in many publications, the patients’ view has been neglected totally. Usually, when one is to discuss care in transition, patients with chronic conditions and young adults suffering from chronic disease have to be considered. Timing The time at which transfer of patient care should be initiated depends upon cultural, financial and societal issues. For example, will the state or insurance companies pay outpatient clinics involving paediatric and adult care teams at the same time? At what age does remuneration of paediatric care end? In addition, developmental, psychological and biological issues have to be taken into account, when one is to decide upon the age of transition. Do adolescents still wish to have parents involved in their coping with a chronic condition? Are issues of confidentiality and secrecy considered? Are special aspects of diseases in adult life being taken care of by the paediatric team? Or is it time to transfer care to the adult medical team, who might be more experienced in dealing with the health issues of adults than are paediatricians? Specific challenges The transition of patients with type 1 diabetes from paediatric to adult care services is challenging, not only for patients, but also for paediatricians and the physician providing further care.1 Around the time of transition,
metabolic control is often unstable. Furthermore, psychiatric co-morbidities or social background should be considered. Follow up by a specialist, i.e. adult endocrinologist/diabetologist, should be guaranteed. Typical differences between paediatric and adult healthcare services may hamper a successful transition.2,3 The handing over of healthcare should be planned early and the timing should be adapted to the medical and psychosocial condition of the patient. An interdisciplinary transfer clinic seems to be the optimal setting for a successful transition.4 Close co-operation between paediatricians and adult diabetologists or endocrinologists is a prerequisite.5 Seeking the ideal solution In this author’s opinion, children with chronic endocrine disease should be treated as young adults by adult endocrinologists. To optimise the transfer from the paediatric to adult endocrinologist, a model of a common transition clinic has been developed, but this is often difficult to organise. Within such a setting, it should be possible to exchange experience and to extend the knowledge and understanding of the disease with the other party, in order to provide optimal outpatient care. This model, however, has only sporadically been put into practice to date. To illustrate the problems of transition into adult endocrine care, one publication examined two different endocrine diseases: classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency, and childhood-onset growth hormone deficiency.5 Specific problems encountered in transfer to adult care were the attachment of the patients to their paediatricians and the lack of comprehension of the need for long term, continuous therapy. The consequence was a dramatic impairment in management. Similar conclusions have been drawn from studies of the transition of patients with type 1 diabetes from paediatric to adult care.1,6 In summary, transition from paediatric to adult care is an important and crucial step in the life of people with endocrine disease and diabetes of early onset. Still, many research issues have not been solved or even addressed sufficiently. Wieland Kiess Hospital for Children and Adolescents, Center of Pediatric Research, University of Leipzig, Germany
In healthy people, plasma glucose excursions depend on the time of day of glucose ingestion, with higher glucose tolerance in the morning compared with in the evening. Recent studies using a circadian misalignment protocol clearly demonstrated that the diurnal rhythm in glucose tolerance is robustly regulated by the circadian timing system, separate from behavioural and environmental changes. The mammalian circadian timing system consists of a central brain clock and peripheral clocks in tissues throughout the body, including muscle, adipose tissue and liver. Environmental light synchronises the approximately 24-hour (i.e. circadian) rhythm of the brain clock with the exact 24-hour rhythm of the environment. The entrained timing signal from the brain clock is forwarded via neural and hormonal signals to the peripheral tissue clocks. The molecular mechanism of the central and peripheral clocks is based on transcriptional– translational feedback loops, which are present in virtually every cell of the human body. Molecular clocks in different tissues and organs are involved in the control of the
The gut clock Intestinal cells over the entire intestinal tract contain a molecular clock, synchronised by signals resulting from food intake. The gut clock regulates intestinal motility, nutrient absorption and the expression of membrane glucose transporters, and matches the timing of maximal uptake to the habitual feeding period. The muscle clock Human skeletal muscle has an autonomous molecular clock. Rodent data showed that the skeletal muscle clock is synchronised by the central brain clock, but also by signals resulting from physical exercise and food intake. Cultured rodent myotubes show a circadian rhythm in insulin sensitivity. Consistently, human muscle tissue shows a diurnal rhythm in insulin sensitivity, with higher insulin sensitivity in the morning.
The adipose tissue clock White adipose tissue (WAT) contains an autonomous circadian clock, as shown in both rodent and human in vitro models. The WAT clock is synchronised by the central brain clock as well as by signals resulting from food intake. Rodent adipocytes show a circadian rhythm in glucose uptake. In human WAT, ~25% of the transcriptome shows diurnal variation, including pathways involved in the regulation of glucose uptake. Subcutaneous WAT explants from human subjects show an intrinsic diurnal rhythm in insulin signalling, with peak insulin sensitivity at noon. The liver clock The liver contains an autonomous clock that is synchronised by the central brain clock via a combination of autonomic and endocrine signals. The liver clock strongly responds to signals resulting from food intake, since the liver clock can be uncoupled from the brain clock by inverting the daily feeding rhythm. The liver clock regulates several pathways involved in the control of glucose and lipid metabolism, as indicated by micro-array, proteomic and metabolomic studies. The liver clock is essential to maintain euglycaemia, by synchronising the diurnal rhythm in gluconeogenesis and glucose export to the habitual fasting period. The pancreatic clock The presence of an autonomous circadian pancreatic clock has been demonstrated in rodent as well as in human islet cells. The pancreatic clock is synchronised by the light/darkness cycle via signals from the brain clock, including autonomic neuronal signals, melatonin, glucocorticoids and body temperature. The amplitude of clock gene oscillations in cultured rat islets is dependent on the glucose concentration in the medium. Isolated rat pancreatic islets show a circadian rhythm in insulin secretion. Clock genes activate the transcription of genes involved in insulin biosynthesis, insulin transport and glucose-stimulated insulin secretion. Disruption of the pancreatic clock causes defective insulin secretion. Circadian disruption The first clue that the circadian timing system may be involved in the pathophysiology of insulin resistance was the observation, in the 1960s, of an altered daily rhythm in glucose tolerance in patients with diabetes mellitus. Later observations, including the development of metabolic syndrome in the Clock mutant mouse, food intake at the wrong circadian phase causing obesity in mice, and circadian misalignment resulting in decreased glucose tolerance in humans, led to the circadian disruption hypothesis. Sophisticated tissue-specific pancreatic, hepatic, muscle and adipose transgenic and knockout models gave further support to this hypothesis. Conclusion Taken together, it is likely that disturbance of the central and/or tissue clock rhythms contributes to the pathophysiology of insulin resistance. Circadian disruption may also cause misalignment of nutrient fluxes, both between and within tissues. For instance, a mismatch between hepatic glucose production, muscle glucose uptake and carbohydrate intake may contribute to elevated glucose levels, and metabolic inflexibility in muscle tissue may result in insulin resistance. Randomised clinical trials are needed, investigating the effects of natural light/darkness exposure, sleep improvement, time-restricted feeding and the daily timing of exercise in preventing these metabolic complications. Dirk Jan Stenvers and Andries Kalsbeek Department of Endocrinology and Metabolism, Amsterdam UMC, The Netherlands
Hypopituitarism is a rare, complex and heterogeneous endocrine disorder associated with significant morbidity and mortality.2,3 Clinical manifestations may present at any time of life, and range from isolated pituitary deficiency to a complete loss of all pituitary hormones with or without associated extra-pituitary abnormalities. Transition is defined as the time between the completion of puberty and the achievement of peak bone mass.4 It is a time when physical, cognitive and emotional changes occur. During this challenging period, young people begin to navigate adult relationships, employment, university education, independent living and their social life. In patients with chronic conditions, the term transition refers to the purposeful planned movement of adolescents and young adults from child- to adult-oriented healthcare systems.5 The goal is to provide care that is uninterrupted, co-ordinated, developmentally appropriate, psychosocially sound, and comprehensive
This is not easy to achieve. Some of the barriers to successful transition are summarised in the Table. Factors in the successful transition of patients with hypopituitarism are considered below. Timing Meeting the recommended target for the best timing of transition (starting at 14 years, according to the NICE guidelines) might not always be possible, due to the lack of sufficient expertise among adult services: patients with some rare conditions would not even have survived to adulthood a few decades ago. This is often compounded by a ‘resistance to change’ amongst both the family/patient and the healthcare teams that they know well. Retesting Transition is an opportune time for re-evaluation of any endocrinopathies, considering the diagnostic difficulties of specific hormonal deficiencies in younger children, but also the possible recovery of anterior pituitary function as well as the evolution of new deficits. Current guidelines suggest that retesting of growth hormone secretion should be performed in all patients, except those with three or more pituitary hormone deficiencies and low-serum insulin-like growth factor-1 concentrations (below –2.0 SDS), those with genetic defects affecting the hypothalamo-pituitary axis, and those with hypothalamo-pituitary structural brain defects.6 Education on adrenal crisis and desmopressin treatment Education of the young person on increasing oral glucocorticoids during intercurrent illness, how/when to administer emergency intramuscular hydrocortisone and how to correct hypoglycaemia is essential. If diabetes insipidus is present, the young person should also understand the importance of not stopping their desmopressin, and the importance of carrying both hydrocortisone and desmopressin with them at all times, as well as adopting appropriate strategies if they become unwell, particularly if they have co-existing adrenocorticotrophin deficiency. Transition may involve revisiting optimal steroid preparations for an individual, e.g. the use of long-acting glucocorticoid therapy. Addressing lifestyle changes such as going out, staying away from home and staying safe if using alcohol and drugs may save lives. Recreational drugs such as MDMA (3,4-methylenedioxymethamphetamine or ‘ecstasy’) may lead to polydipsia, which could be extremely dangerous in patients treated with desmopressin. Alcohol can increase urine output, and young people should be told they will not necessarily need extra desmopressin if they drink a large amount of alcohol. Puberty and fertility Delayed puberty in adolescents can be associated with significant anxiety about body image, and decreased selfesteem, with social isolation. In these circumstances, sex steroid therapy can be beneficial and should be used in a timely manner. In girls with learning disabilities, an early onset of menstrual periods might be difficult to manage for the family/carers. Therapeutic options are available for reduction or suppression of menstruation, at the same time optimising accrual of bone mass.
Young adults should have discussions about sexual health and be advised to use contraception if they are sexually active, even if they are diagnosed with hypogonadism. Fertility issues are often only discussed after transition to adult services. Patients should have access to specialist fertility services if they request this. Learning disability and lack of capacity Associated abnormalities such as visual impairment, obesity, autism and learning disabilities often simultaneously present in children with septo-optic dysplasia and in those with suprasellar brain tumours, and may add to difficulties in management. Provision for these young adults is frequently woefully inadequate. The lack of capacity to consent to medical treatment often poses ethical challenges. Best interest meetings frequently take place, to ensure that the best treatment possible is achieved, while respecting personal choices and beliefs. Hypothalamic obesity Severe hypothalamic obesity is a common finding in acquired and congenital causes of hypopituitarism. This is caused by a combination of hyperphagia and low metabolic rate. Lack of exercise might also contribute, in patients with learning disabilities and/or visual impairment.
No medical treatment is currently available for hypothalamic dysfunction. Conclusions Adolescents with hypopituitarism face physical and emotional changes, as well as the prospect of a chronic condition in which lifelong hormonal treatment may be required. Expert care across the life span is required, but there is no universal consensus on how transition should be provided. It is important to give young people the knowledge and confidence to manage their condition and support them through the process. A multidisciplinary professional team should work in partnership with patients and their families to ensure a successful and smooth transition. Manuela Cerbone and Mehul T Dattani London Centre for Paediatric Endocrinology and Diabetes, Great Ormond Street Children’s Hospital and University College London Hospitals, and Section of Molecular Basis of Rare Disease, Genetics and Genomic Medicine Programme, University College London Great Ormond Street Institute of Child Health, UK
Personalised medicine in paediatric endocrinology is the theme of the 60th ESPE Annual Meeting, which is the first ESPE Annual Meeting to take place in person since 2019. The exciting and diverse programme covers basic science, translational research and clinical care, offering you the best global update in paediatric endocrinology. You will have the chance to meet with our most experienced international colleagues.
As well as topical and engaging plenary lectures, symposia, Meet the Expert and ‘How do I…?’ sessions, you can enjoy Controversy and Novel Advances sessions that will challenge all our ways of thinking.
Oral communications and physical and electronic posters will cover the widest possible range of subjects and insights from senior and junior voices in the field alike.
If you are unable to join us in Rome, we will be running our ESPE On Demand service following ESPE 2022. You will be able to catch up on all the sessions for the following 6 months, using your registration details. Find the full programme and register at www.espe2022.org Avoid fraudulent websites Remember that the ESPE website (at www.eurospe.org or www.espe2022.org) is the only official website where you can safely register to attend ESPE 2022.
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