Issue 42 – Winter 2018
Issue 42 - Winter 2018
Bringing The Latest In Paediatric Endocrinology To You
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Editorial
Welcome
Thanks to our excellent speakers, we are fortunate in this issue of ESPE News to have
insights into several of the talks you will be able to enjoy at ESPE 2021 Online. On page 6, Ali Abbara and Waljit Dhillo review our
understanding of kisspeptin’s role in puberty, with exciting potential developments in its therapeutic and diagnostic use. Meanwhile, on page 7, Peter Kühnen examines the melanocortin
4 receptor (MC4R) agonist setmelanotide as a treatment option in rare obesity syndromes. He explains the capacity of MC4R agonists to activate
different downstream signalling cascades (‘biased signalling’) and therefore elicit a range of effects. Supporting transgender/gender diverse youth
remains a complex and topical area of healthcare. Stephen Rosenthal discusses the associated issues, which he will address in his forthcoming presentation (page 8).
You can find out more about ESPE 2021
Online at www.eurospe.org/espe2021online.
As always, your contributions will form a central part of the meeting, so please make sure to submit your abstracts by 10 May 2021.
On page 4, we are extremely pleased to have contributions from colleagues in India about their lives in the time of COVID. Researchers
Anuradha Khadilkar and Vandana Jain reflect on the pandemic’s impact on their work with patients and other aspects of their research and daily
lives.The rest of the issue is bursting with the opportunities and support available to you from
ESPE. These extend from grants and committee vacancies to the prospect of future events such as ESPE Schools and the postponed ESPE Science
Symposium. Read on to learn more!We thank all this issue’s contributors for writing for us at such a busy and stressful time.
We wish them, you, and all your families and friends, health and peace in the coming months.
Sarah Ehtisham
Editor, ESPE News
Sarah.Ehtisham@mediclinic.a
News
Intro
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and activities at
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News
Your new Secretary General-Elect
At ESPE’s Annual Business Meeting in September, Anita Hokken-Koelega (Rotterdam, The Netherlands) was formally elected as the next Secretary General of ESPE, following an e-vote amongst Society members. Professor Hokken-Koelega will take office as Secretary General in September 2019, when Peter Clayton steps down from the post after completing an extended term of 4 years. Anita is Professor of Paediatric Endocrinology at Erasmus University Medical Center/Sophia Children’s Hospital in Rotterdam. She has previously been ESPE’s Treasurer and Chair of the Strategic & Finance Committee. Talking about her vision for the Society in the coming years, Anita said, ‘ESPE has a great responsibility and an important role in improving healthcare for children and adolescents with endocrine disorders, in training paediatric endocrine fellows and in developing quality indicators and standards of care, as well as in prioritising research activities, across Europe and worldwide. It is important that ESPE remains a leading paediatric society, and that it collaborates with other paediatric and adult societies, for example by participating in the International Consortium of Pediatric Endocrinology (ICPE).’ In total, 365 members voted in the election, with Anita receiving 53.2% of the votes and candidate Gary Butler receiving 46.3%. Anita was welcomed to her new role by Peter Clayton
News
Peter Clayton to lead ICPE for another year
ESPE’s Secretary General, Peter Clayton, will remain as Chair of the International Consortium of Pediatric Endocrinology (ICPE) for another year, as agreed by ICPE members at the Consortium’s meeting in Athens in September. This 1-year extension of his leadership will align with his term of office as Secretary General of ESPE.
News
New ICPE website
The International Consortium of Pediatric Endocrinology (ICPE) has launched its own website to showcase the meetings, training events and clinical practice documents of all member societies globally. You can view the site at www.intpedendo.org.
News
NeoNatal
endocrinology in
e-Learning
In keeping with the theme of this issue of ESPE News, ESPE e-Learning includes many informative cases of newborns with endocrine problems, which you will find within ‘General Content’: Chapter Case(s) Adrenal disorders • A newborn with ambiguous genitalia and skeletal malformations Calcium and bone • A 2-week-old baby • A baby with convulsions DSD • A newborn with DSD Growth • John, a jittery baby Hyperinsulinism • Elisa and Joe Thyroid • Neonatal thyrotoxicosis – an agitated newborn case • A 6-day-old boy with abnormal newborn screening Please visit www.espe-elearning.org. Remember, registration is free of charge
In keeping with the theme of this issue of ESPE News, ESPE e-Learning includes many informative cases of newborns with endocrine problems, which you will find within ‘General Content’: Chapter Case(s) Adrenal disorders • A newborn with ambiguous genitalia and skeletal malformations Calcium and bone • A 2-week-old baby • A baby with convulsions DSD • A newborn with DSD Growth • John, a jittery baby Hyperinsulinism • Elisa and Joe Thyroid • Neonatal thyrotoxicosis – an agitated newborn case • A 6-day-old boy with abnormal newborn screening Please visit www.espe-elearning.org. Remember, registration is free of charge
News
ESPE Award Winners 2018
We congratulate the winners of the 2018 ESPE Awards, many of whom received their prizes at the ESPE Meeting in Athens, Greece, in September. ESPE Andrea Prader Prize supported by Pfizer Yves Le Bouc (Paris, France) received the ESPE Andrea Prader Prize, in recognition of his lifetime achievement in teaching and research, outstanding leadership and overall contribution to the field of paediatric endocrinology. ESPE Young Investigator Awards supported by Pfizer These awards are for paediatricians who are still in training or have been in a senior (principal investigator) role for no more than 5 years. They are made in recognition of their scientific publications, and were presented to: • Valentina Chiavaroli (Chieti, Italy) whose award lecture was entitled ‘Early life events and postnatal effects from infancy to adolescence: findings from recent studies on Italian and New Zealand cohorts’ • Laetitia Martinerie (Paris, France) whose award lecture was entitled ‘Deciphering the mineralocorticoid signalling pathway in neonates: from physiology to pathology’ Henning Andersen Prizes supported by Novo Nordisk These awards for the most highly rated abstracts were presented to: • Daniel Rodríguez Gutiérrez (Fribourg, Switzerland) for ‘Generating a human gonadal cells model from terminal differentiated fibroblast-derived induced pluripotent stem cells’ • Alessandra Mancini (London, UK) for ‘EAP1 mutations cause an impaired transcriptional activity on GnRH promoter that leads to self-limited delayed puberty
President’s Poster Awards This year’s prizes for the best posters at the meeting were awarded for the abstracts listed on the right. The recipients are pictured below (L–R, in the same order as the listed abstracts) with the President of ESPE 2018 George Chrousos. • Disease burden and systemic manifestations of HPP in children enrolled in the global HPP registry (P1–P038) Wolfgang Högler et al. (UK, USA, France, Japan, Canada & Germany) • Role of urinary NGAL and KIM-1 as early kidney injury biomarkers in obese prepubertal children (P1–P112) Cosimo Giannini et al. (Italy) • Serum IGFBP-2 concentration in neonates with potential diagnosis of growth hormone deficiency (P1–P147) María Gabriela Ballerini et al. (Argentina) • More than a gut feeling: preliminary evidence supporting a role for lifestyle habits in shaping the intestinal microbiota in childhood and adolescence (P1–108) Mélanie Henderson et al. (Canada) • Prevalence of diabetes among children treated with growth hormone in Israel (P1–P155) Miri Lutski et al. (Israel, award collected by Zvi Laron) ESPE Hormone Research in Paediatrics Prizes supported by Karger These prizes for the best original papers published in Hormone Research in Paediatrics were presented to: • Samim Özen et al. (Izmir, Turkey) for ‘Rapid molecular genetic diagnosis with next-generation sequencing in 46,XY disorders of sex development cases: efficiency and cost assessment’ (best original paper) • Hana Sediva et al. (Prague, Czech Republic) for ‘Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling be compromised?’ (best ‘Novel Insights from Clinical Practice’ paper) ESPE Research Unit Grant supported by Sandoz Awards have been made to the following recipients to facilitate collaborative research in paediatric endocrinology: • Lars Sävendahl, Colin Farquharson, Ondrej Soucek & Jarod Wong for ‘Potential of humanin to prevent bone growth impairment and osteoporosis in inflammatory bowel disease’ (€15 000) • Irène Netchine, Mohamad Maghnie, Justin Davies, Jovanna Dahlgren, Susan O’Connell, Anita Hokken-Koelega & Gerhard Binder for ‘Silver Russell syndrome and metabolic function: building the knowledge for transition and care into adulthood’ (€130 000) IFCAH-ESPE Grants Michel Polak (Paris, France), President of IFCAH’s Scientific Committee, presented these awards for research into congenital adrenal hyperplasia (CAH): • Gérard Babot (Boston, MA, USA) for ‘Generation of human steroid-producing organoids: a new approach towards a treatment for CAH’ (€150 000 from AFM (the French Muscular Dystrophy Association) plus €50 000 from IFCAH) • Claus Gravholt (Aarhus, Denmark) for ‘The epidemiology of congenital adrenal hyperplasia: a nationwide study’ (€100 000) • Li Chan (London, UK) for ‘In vivo characterisation of ACTH receptor antagonists’ (€100 000) ESPE Research Fellowship supported by Novo Nordisk Emily Cottrell (London, UK) has been awarded this fellowship, which enables talented young scientists, investigators and paediatric endocrinologists to conduct research at leading institutions worldwide, for ‘Characterisation of novel genetic causes of growth failure’ (€125 000 for research training plus €15 000 for consumables). ESPE Clinical Fellowship supported by Merck These fellowships to promote patient care, clinical management and clinical research in paediatric endocrinology have been awarded to Neha Agarwal (Delhi, India), Nabat Aghayeva (Baku, Azerbaijan), Beatriz Corredor Andrés (Madrid, Spain), Ruma Deshpande (Pune, India), Hüseyin Anıl Korkmaz (Balıkesir, Turkey), María Cecilia Mallo (Mar del Plata, Argentina), Hari Mangtani (Pune, India), Mya Sandar Thein (Yangon, Myanmar), Marzhan Rakhimzhanova (Kazakhstan), Ebrhim Reham (Khartoum, Sudan), Nadira Rouabah (Setif, Algeria), Sona Samvelyan (Armenia), Aashish Sethi (New Delhi, India), Ingrida Stankutė (Kaunas, Lithuania), Laman Sultanova (Baku, Azerbaijan) and Khurshid Urinov (Uzbekistan)
Hot topics
Intro
Bringing you recent highlights from the world of research
Hot topics
Metabolic health and
preconception paternal cold
exposure
Research by Sun et al. has indicated that people conceived in colder months (October–February) have more active brown adipose tissue (BAT). Using mice, they have proved their hypothesis that cold exposure (CE) before conception can cause changes in the BAT of offspring by epigenetic mechanisms. CE of male (but not female) mice before mating resulted in improved systemic metabolism and protection from diet-induced obesity in the offspring. The sperm from male mice revealed several differentially methylated regions and expressed genes associated with enhanced BAT neurogenesis and formation. CE induces epigenetic programming of the sperm such that the offspring harbour hyperactive BAT and have improved adaptation to over-nutrition. Intergenerational memory of past CE may have helped improve survival during prolonged cold periods, such as the ice age 2.6 million years ago, and may be advantageous nowadays by protecting the offspring from metabolic derangements
Hot topics
Mortality in type 1 diabetes in
relation to age at onset
This worrying report by Rawshani and co-workers highlights excess cardiovascular risk in those diagnosed with type 1 diabetes (T1DM) at a young age. Data from the Swedish National Diabetes Registry (which includes 27 195 individuals with T1DM) was compared with that from 135 178 age-matched controls. Glycated haemoglobin was higher in those diagnosed at a younger age. Those diagnosed before 10 years of age had a 30-fold increased risk of coronary heart disease and acute myocardial infarction compared with controls, and those risks were even higher in women. Development of T1DM before 10 years of age resulted in a loss of 17.7 life years for women and 14.2 life years for men, compared with a loss of 10 years if diagnosed later. Age at onset of T1DM appears to be an important determinant of survival and of cardiovascular disease, and earlier consideration may need to be given to cardioprotective medications as well as improving glycaemic control in those diagnosed young
Hot topics
Predicting neonatal
hyperthyroidism
Neonatal hyperthyroidism (NH) is related to transplacental passage of maternal anti-thyrotrophin receptor antibodies (TRAbs), mainly in the context of maternal Graves’ disease. Banigé et al. aimed to predict NH during the disease’s presymptomatic stage. In a retrospective multicentre 7-year study, they retrieved the medical records of 415 mothers with Graves’ disease who had positive TRAbs at least once during pregnancy. NH was defined as detection of goitre by ultrasound or of clinical signs of NH. Biochemical NH was defined as thyrotrophin (TSH) <2.5th percentile and free thyroxine (fT4) >97.5th percentile between days 3 and 7 of life. Offspring fT4 levels could not predict NH. However, offspring TSH <0.90mIU/l (days 3–7 of life) predicted NH with 78% sensitivity, 99% specificity, 90% positive predictive value, 98% negative predictive value and area under the curve 0.99. TRAb levels (days 0–5 of life) and TSH levels (days 3–7 of life) constitute the proposed method of screening for NH in all asymptomatic but suspected newborns. Early therapeutic care is essential to avoid cardiac and neurologic complications.
Hot topics
CRISPRa in human pluripotent
reprogramming
Induced pluripotent somatic cells (iPSCs) are increasingly used in research and are moving towards human clinical trials. It is therefore essential to be able to exactly replicate cellular phenotypes. Weltner and colleagues report a method for reprogramming adult human cells into iPSCs using the CRISPRa (CRISPR-Cas9- based gene activation) system. A catalytically inactivated form of the Cas9 protein is recruited to genomic sequences defined by short guide RNA molecules. This results in transcriptional activation or silencing of endogenous genes. In addition to inducing transcription of conventional reprogramming transcription factors, a conserved Alu-motif was targeted which is enriched in the promoter areas of the first genes expressed during human embryo genome activation. This strategy resulted in the activation of a subset of endogenous genes that work as reprogramming factors. The method can be applied to generate iPSCs and, by combining with transgenic factors, RNAi (RNA interference) and small molecular compounds, will potentially lead to more efficient and specific reprogramming strategies.
Features
Features
The impact of in utero analgesic exposure
The concept of environmental exposures acting as endocrine disruptors during fetal life and having an impact on subsequent male reproductive health is not new. The increasing incidence of male reproductive disorders over recent decades suggests environmental factors may have a role, as Rod Mitchell discusses
Whilst in utero exposure to environmental chemicals has been associated with impaired gonadal development and function in laboratory animals, the effects can be inconsistent and are often not reproduced in experimental studies using human-relevant exposures in human fetal tissues.1 Many of the environmental ‘endocrine disrupting chemicals’ that have been suggested to predispose individuals to reproductive disorders are agents to which we are exposed at relatively low levels. Pharmaceutical use can result in frequent exposure to relatively high concentrations of specific chemicals. Recent attention in this area has turned to the potential effects of in utero analgesic exposure on gonadal development and reproductive health. Endocrine disruptors Analgesics are used by most (55–80%) women at some point in pregnancy. This usually involves short term use of paracetamol (acetaminophen), with a smaller proportion using ibuprofen. Whilst paracetamol use in pregnancy has been considered safe, a number of epidemiological studies have reported associations between maternal analgesic use and the development of cryptorchidism in male offspring.2,3 Cryptorchidism, in addition to other male reproductive disorders (hypospadias, testicular germ cell cancer and impaired spermatogenesis), is associated with suboptimal androgen production or action during fetal life. In order to investigate the effect of analgesic exposure on testosterone production, we used a xenograft approach to show that prolonged (≥7 days) exposure to paracetamol (20mg/kg per day) can significantly reduce testosterone production from second trimester human fetal testis.3 Importantly, human fetal tissues were exposed to paracetamol by administering the same dosage and regimen to host mice as that used therapeutically in humans. Effects on germ cells and fertility During fetal life, germ cell development is essential in males to establish the spermatogonial population for spermatogenesis in adulthood. In females, maintenance of the finite pool of oocytes is required for future fertility. We have found that therapeutic concentrations of paracetamol or ibuprofen lead to significantly reduced
germ cell numbers in human fetal testes and ovaries.4 The effects are consistent across several experimental models.5 The germ cell effects appear to be mediated by inhibition of PGE2 (a prostaglandin) signalling, as germ cell loss can be rescued using PGE2 receptor agonists. The consequences of analgesic-induced germ cell loss for subsequent fertility cannot be studied directly in humans. In vivo studies in rats have shown that in utero exposure to paracetamol leads to reduced fertility in female offspring, as indicated by fewer pregnancies and pups per litter.6,7 For males exposed in utero, there may be some recovery in germ cell numbers, although effects on spermatogenesis have not been investigated.6 The potential for effects of fetal analgesic exposure on the fertility of subsequent generations is intriguing. In rats, ovarian weight and total follicle number are reduced in F2 adult females born to an exposed (male or female) parent.6 Further study of the F2 generation is warranted, along with investigation of the F3 generation. To conclude Exposure of human fetal gonads to human-relevant concentrations of paracetamol and ibuprofen consistently decreases fetal germ cell number. These effects are robust and are conserved in the rat and human across different model systems, probably resulting from disruption of prostaglandin signalling. Whilst translation of these results to human pregnancy must be considered with caution, the findings support recommendations that paracetamol should only be used in pregnancy if needed, and then only for the shortest period necessary to manage symptoms, whilst use of ibuprofen should be discussed with a doctor. Prospective studies to investigate potential associations between analgesic use and reproductive outcomes in offspring should be a research priority
Features
Managing
hypophosphatasia
HPP is a heterogeneous disease, with severe perinatal and infantile forms manifesting in utero and by 6 months of age respectively. Low TNSALP activity results in extracellular accumulation of inorganic pyrophosphate (PPi), which inhibits bone mineralisation by blocking growth of hydroxyapatite crystals, appearing as rickets in children and osteomalacia in adults.2 In addition, TNSALP dephosphorylates pyridoxal 5’-phosphate (PLP), the principal circulating form of vitamin B6, to pyridoxal, which allows it to cross cell membranes and be rephosphorylated intracellularly to PLP. Thus, vitamin B6-dependent seizures can occur in some severely affected infants.3 Additional life-threatening complications in the severe perinatal and infantile forms of HPP may include respiratory failure from rachitic chest deformity and rib fractures, elevated intracranial pressure due to craniosynostosis, and nephrocalcinosis and renal compromise secondary to hypercalcaemia.4 Diagnosing HPP Diagnosis of HPP in infants is established by typical skeletal manifestation of severe rickets: characteristic ‘tongues’ of lucency extending from the growth plate to the metaphysis of long bones, with reduced mineralisation and the absence of ossification centres of bones.5 Biochemical manifestations are low serum alkaline phosphatase concentrations and elevated substrates of TNSALP, PLP and PPi. Confirmation of diagnosis is by genetic testing for mutations in the ALPL gene. Severe perinatal and nfantile forms are autosomal recessive, while milder childhood, adult and odonto forms are either autosomal dominant or recessive.6 Treating HPP If untreated, the perinatal form of HPP is fatal, and in infantile HPP there is ~50% mortality during the first year of life.7 Asfotase alfa (Strensiq®; Alexion Pharmaceuticals Inc., Boston, MA, USA) is a human recombinant TNSALP replacement therapy, which improves musculoskeletal manifestations, growth, respiratory function and motor function of infants and children with HPP. It has been authorised by a number of regulatory authorities for the management of paediatric-onset HPP. A phase 2 open label study recruited 11 patients, of whom 10 completed 6 months of therapy and 9 completed 1 year.8 All patients showed biochemical improvements, with reduction in the concentrations of PLP and PPi. In keeping with this, there was healing of rickets and improvement in developmental milestones and pulmonary function. There were no serious drug related adverse events. Asfotase alfa was associated with improved survival in treated patients versus historical controls: 95% vs 42% at age 1 year and 84% vs 27% at age 5 years respectively (P<0.0001, Kaplan–Meier log-rank test).9 Asfotase alfa is administered as subcutaneous injections, three times a week at 2mg/kg per dose. Higher doses may initially be required in infants with severe forms of perinatal HPP. However, asfotase alfa treatment does not prevent craniosynostosis and some of the infants require craniofacial surgery. Besides treatment with asfotase alfa, patients with perinatal and infantile HPP also require high quality supportive care from a team of medical, surgical and allied healthcare professionals. Care of such infants should therefore be ideally provided in specialist paediatric tertiary hospitals, where multidisciplinary care can be co-ordinated.10 Even though no drug-related serious adverse events have been reported, caution must be exercised, as suppression of PPi with prolonged asfotase alfa treatment can potentially cause ectopic calcifications. Long term monitoring of safety and efficacy of prolonged treatment with asfotase alfa into adulthood is therefore required, which can be addressed through ongoing registry of HPP.1
Features
Neonatal Cushing’s syndrome
Endogenous Cushing’s syndrome (CS) is rare in the neonatal and infantile period.
Christina Tatsi and Constantine Stratakis examine its aetiology, genetics and complications.
IGiven its rarity in neonates, the symptoms of CS are often misdiagnosed, leading to prolonged, detrimental exposure to high cortisol levels. Common manifestations include deceleration of growth in length with unabated weight gain, round facies with plethora, increased fat deposition with central obesity, easy bruising and signs of virilisation (when associated with an androgen co-secreting adrenocortical lesion). Certain findings traditionally associated with CS, such as violaceous striae, are infrequent in infants.1 Classification The most common aetiology of CS in infants is an adrenal disorder (adrenocorticotrophin (ACTH)- independent CS), usually caused by unilateral tumours (adrenocortical tumours, ACTs). More rarely, bilateral adrenocortical hyperplasia, involving micronodular (<1cm) or macronodular (>1cm) disease, may lead to autonomous hypercortisolaemia. ACTH-dependent CS is rarer in infants than in older children and adults, and is often associated with pituitary blastomas. Ectopic ACTH/corticotrophin releasing hormone (CRH) production is uncommon but, when present, is often from an embryonic tumour, neuroblastoma or similar neuroendocrine lesions, rather than from bronchial carcinoids. We reviewed all published CS cases in patients <3 years old not related to ACTs.2 Of the 95 identified non carcinoma cases, 19 (20%) had a pituitary source; 11 were confirmed to be pituitary blastomas. Nine of the identified cases (9%) were caused by ectopic ACTH/CRH production, most commonly from neuroblastomas (67% of ectopic cases). The remainder (71%) were associated with adrenocortical hyperplasia or of unclear aetiology. Genetic causes TP53 gene mutations are found in almost 70% of all cases of ACTs. If they occur in the germline they are associated with Li–Fraumeni syndrome, an autosomal dominant inherited disease predisposing to cancer. Screening is recommended for all children for germline TP53 mutations upon diagnosis of an ACT Neonatal ACTH-independent CS may also develop in the context of a genetic syndrome. McCune–Albright syndrome (MAS) may present with CS in the first year of life. Additionally, Beckwith–Wiedemann syndrome has been reported in rare cases of cortisol-producing ACTs. Finally, pituitary blastomas present almost exclusively in the context of DICER1 gene mutations. Other genetic syndromes known to lead to CS, such as multiple endocrine neoplasia type 1 or familial isolated pituitary adenomas, have not been reported in the infantile period. Carney complex may be diagnosed in infancy but, typically, the first tumour after birth in these patients is heart myxoma. Diagnosis The diagnosis of neonatal and infantile CS follows criteria established for the identification of CS at other ages. However, the hypothalamo-pituitary-adrenal axis is immature at birth, and it often takes 3–6 months for the circadian rhythm to be fully established, so investigation of the diurnal variation of cortisol is often not valid in infants. Additionally, measurement of free cortisol in a 24-h urine collection might require an indwelling catheter, which might be uncomfortable. Consequently, diagnosis often requires clinical judgement and the correlation of clinical, biochemical and imaging findings. Treatment Unfortunately, the prognosis of neonatal CS is poor. Surgical resection of the underlying cause is often recommended, involving either adrenalectomy or transcranial resection of pituitary lesions. Adjuvant chemotherapy with mitotane is often administered in cases with ACTs. The exception is in MAS, where CS is often noted to be transient. In such cases, if the infant survives the initial period of hypercortisolaemia with medical therapy, resolution of CS and further normal adrenal function may occur. However, even after successful treatment, it is not clear whether the exposure to glucocorticoids may lead to future persistent abnormalities, such as features of the metabolic syndrome, bone abnormalities and cognitive problems
Events
Events
Dancing to the ESPE beat!
ESPE welcomed more than 3600 attendees from well over 100 countries to its 57th Annual Meeting. We thank all of you who attended and made ESPE 2018 such a great success. Particular thanks are due to the Programme Organising Committee, led by Mehul Dattani. There were 1330 submitted abstracts, showcasing leading research across paediatric endocrinology, as well as eight plenary lectures, ten symposia, eight ‘meet the expert’ sessions and two brand new ‘How do I...’ sessions. It was possible to see ESPE’s work in action, as recipients of ESPE grants reported on their activities. The Local Organising Committee, chaired by Bessie Spiliotis, arranged many networking opportunities, providing a chance to meet up with colleagues old and new, and enjoy many aspects of Greek culture. The works of renowned Greek composer Mikis Theodorakis featured in a concert on the opening day, before welcome drinks, including Greek wine, and hors d’oeuvres. Even the rain could not dampen proceedings at the ESPE evening, held at the impressive Zappeion Megaron near the Acropolis. Attendees enthusiastically participated in traditional Greek dancing, using skills taught by Bessie earlier in the meeting! The ESPE Team enjoyed seeing so many of you, whether at the ESPE Connect stand, in busy committee meetings, at awards ceremonies or during the exciting meeting. All the abstracts and handouts from ‘meet the expert’ sessions can be found via the Meeting Resources link at www.espe2018.org. You will also find a link at www.espe2018.org to view videos of the extremely well received plenary lectures. Thank you once again for enthusiastically supporting ESPE 2018. We look forward to seeing you next year in Vienna, Austria.
Events
The Science of Gender
ESPE’s 1st Science Symposium attracted 100 participants from 22 countries. They gathered to discuss unmet scientific needs for evidence-based healthcare of transgender children and teenagers. Genes, hormones and social factors play a pivotal role for physical, emotional, social, sexual and cognitive development. The symposium focused on how to improve understanding of the impact of current treatment regimens in these areas. Evidence from disorders of sex development may or may not be helpful in this respect. Given the high prevalence of neurodevelopmental disorders (particularly autism spectrum diseases) in this group of adolescents, further exploration of the neurobiology of gender dysphoria may reveal novel aspects in its clinical care and understanding of its origin. The current trend of commencing hormonal treatment at a younger age (potentially Tanner stage 2) calls for intensified collaborative research into the life-long impact of pubertal suppression and cross-sex puberty induction on physical health, growth, neurocognitive aspects, mental health and sexuality.
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