ESPE2019

Thursday 19 September 2019

07:00-20:00REGISTRATION
08:00-10:00ESPE Obesity Working Group (OWG)
Chair(s): Tetyana Chaychenko (Kharkiv, Ukraine)
test
E2
08:00WG2.1Pathogenesis of Insulin Resistance
08:24WG2.2EU vs. non-EU practices on Insulin Resistance assessment (ESPE ObWG project)
08:48WG2.3Insulin function in obese children within the low and high ranges of impaired fasting glycemia
09:12WG2.4Adolescent type 2 diabetes: Comparing prospective registries
09:36WG2.5Youth onset T2D (2018 ISPAD Consensus Guidelines)
08:00-10:00ESPE Working Group on Disorders of Sex Development (DSD)
E1
Session head(s): Christa Flück (Bern, Switzerland)
08:00Introduction
08:05WG1.1Epigenetics and the androgen insensitivity syndrome
08:25WG1.2Oligogenic origin of DSD
08:45WG1.3Postpubertal outcome of boys born with hypospadias
09:05WG1.4Shared or Shaped Decision-Making in DSD
09:25WG1.5i-dsd/i-cah
09:35WG1.6Endo-ERN
09:45Discussion with attendees
09:55Conclusion
08:00-10:00ESPE Working Group on Bone and Growth Plate (BGP)
F1
Session head(s): Ciara McDonnell (Dublin, Ireland)
08:00WG3.1Lethal pyridoxin-independent encephalopathy in a case of perinatal hypophosphatasia
08:15WG3.2Congenital talipes equinovarus and bowing of femur due to homozygous TRPV6 mutation
08:30WG3.3Mechanisms of vascular calcification and potential treatment implications
09:05WG3.4Update on BOND
09:25WG3.5New insights in growth plate fusion
08:00-10:00ESPE Working Group on Diabetes Technology (DT)
F2
Session head(s): Moshe Philip (Petah Tikva, Israel)
Introduction
08:05WG4.1Impact of hypoglycemia on cognitive function
08:25WG4.2Impact of hyperglycemia on cognitive function
08:45WG4.3Type 2 diabetes and the brain
09:05WG4.4Fear of hyperglycemia
09:20WG4.5Time in Range (TIR) - Highlights from the consensus meeting February 2019
09:40WG4.6How technology helps to improve TIR (open and closed loop)
08:00-10:00ESPE Working Group on Paediatric and Adolescent Gynaecology (PAG)
HALL B
Session head(s): Anne-Simone Parent (Liège, Belgium) & Ken Ong (Cambridge, United Kingdom)
08:00WG5.1Early Origins of PCOS 
08:23WG5.2Diagnosis & pharmacological intervention in PCOS
08:46WG5.3Lifestyle intervention in PCOS
09:09WG5.4Androgen Excess in female athletes 
09:32WG5.5Contraception in adolescence
08:00-10:00ESPE Working Group on Gender Dysphoria (GD)
HALL C
Session head(s): Gary Butler (London, United Kingdom)
08:00WG6.1Assessing competence to consent to physical treatment in transgender adolescents
08:30WG6.2Surgical options for the transfemale
09:00WG6.3Surgical options for the transmale
09:30WG6.4Annual General Meeting
08:00-10:00ESPE Working Group on Turner Syndrome (TS)
HALL A
Session head(s): Michael Ranke (Tuebingen, Germany), Aneta Gawlik (Katowice, Poland), Malcolm Donaldson (Glasgow, United Kingdom) & Christina Kanaka-Gantenbein (Athens, Greece)
08:00Introduction
08:05WG7.1Oral versus transdermal induction of puberty - The Turner Working Group of ESPE proposal
08:15WG7.2Theoretical and practical implications of transdermal approach to pubertal induction
08:30Discussion
08:40WG7.3Endocrine management of Turner Syndrome in adolescents and early adulthood
09:05WG7.4Fertility preservation- technical and ethical aspects
09:30WG7.5Cardiac morbidity and mortality during pregnancy in TS
09:55Closing remarks
10:00-10:30REFRESHMENT BREAK, POSTERS & EXHIBTION
Exhibition Area
10:30-10:45OPENING CEREMONY
HALL A
10:45-11:15PLENARY 1 - RANKL and RANK: Bone and Beyond
Chair(s): Gabriele Häusler (Vienna, Austria) & Agnès Linglart (Paris, France)
HALL A
PL1RANKL and RANK: Bone and beyond
11:15-11:45ESPE AWARDS - Henning Andersen Prizes
HALL A
Session head(s): Mehul Dattani (London, United Kingdom)
12:00-13:30SYMPOSIUM 1
Chair(s): Martin Wabitsch (Ulm, Germany) & Jan Lebl (Prague, Czech Republic)
Novel advances in Diabetes and Obesity
HALL B
S1.1Off the weight curve – dynamics of childhood obesity
S1.2The gut microbiome and Obesity
S1.3New developments for treatments in monogenic disorders focusing on setmelanotide trials
12:00-13:30SYMPOSIUM 2
Chair(s): Wolfgang Högler (Linz, Austria) & Dov Tiosano (Haifa, Israel)
What’s new in bone and growth plate research.
E1
S2.1Longitudinal bone growth: fundamental mechanisms to clinical applications
S2.2Anabolic therapies for osteoporosis in childhood
S2.3Steroid-Associated Osteoporosis in the Pediatric Population
12:00-13:30SYMPOSIUM 3
Chair(s): Olaf Hiort (Lubeck, Germany) & Laura Audi (Barcelona, Spain)
Novel insights in our understanding of Disorders of Sex Development: From Genes to Clinical Outcomes
HALL A
S3.1Genetics of DSD – do we understand it?
S3.2Outcomes in DSD – insight from the DSD life study
S3.3Novel insights into sex determination
12:00-13:30SYMPOSIUM 4
Chair(s): Zdeněk Šumník (Prague, Czech Republic) & Thomas Danne (Hanover, Germany)
ISPAD/ESPE Symposium - Complications of Type 1 Diabetes
HALL C
S4.1Hypoglycemia in children with T1D: Past, Present, and Future
S4.2Novel advances in diabetic retinopathy screening and management
S4.3Prediction of renal and cardiovascular complications
12:00-13:30ESPE ACTIVITIES
E2
ACT1eLearning RLC portal
ACT2Science Committee activities
ACT3Education and training activities
13:30-14:45LUNCH, POSTERS & EXHIBITION
Exhibition Area
13:45-14:45Industry Sponsored Satellite Symposia
14:45-15:45MEET THE EXPERT 1.1
Holistic approach to the individual with DSD
HALL B
MTE1.1Holistic approach to the individual with DSD
14:45-15:45MEET THE EXPERT 2.1
The interpretation of abnormal thyroid function tests in children and adolescents
HALL C
MTE2.1The interpretation of abnormal thyroid function tests in children and adolescents
14:45-16:15HOW DO I...
Chair(s): John Gregory (Cardiff, United Kingdom)
HOW DO I... SESSION 1
HALL A
14:45HDI1.1How Do I... Manage subclinical hypothyroidism
15:15HDI1.2How Do I... Manage a patient with Prader Willi and GH at transition - do they benefit as adults?
15:45HDI1.3How do I... Manage a child with insulin resistance
14:45-16:15FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 2 - Bone, growth plate and mineral metabolism Session 1
Chair(s): Elisabeth Steichen-Gersdorf (Innsbruck, Austria) & Dirk Schnabel (Berlin, Germany)
E2
14:45RFC2.1Burosumab resulted in better clinical outcomes than continuation with conventional therapy in both younger (1-4 years-old) and older (5-12 years-old) children with X-linked hypophosphatemia
14:50RFC2.2Does the treatment with recombinant human growth hormone improve final height in patients affected by X-linked hypophosphatemia?
14:55RFC2.3Growth hormone effects on metacarpal bone geometry and bone age in growth hormone-deficient children
15:00RFC2.4Bone mass and fracture prevalence in childhood brain cancer survivors 2, 5 or 7 years after off therapy
15:05RFC2.5Long term effects of treatment with oxandrolone (Ox) in addition to growth hormone (GH) in girls with Turner syndrome (TS) on bone mineral density in adulthood
15:10RFC2.6Impact of pubertal suppression on body composition and bone mineral density in adolescents with gender dysphoria
15:15FC2.1Continued improvement in clinical outcomes with burosumab, a fully human anti-FGF23 monoclonal antibody: results from a 3-year, phase 2, clinical trial in children with X-linked hypophosphatemia (XLH)
15:25FC2.2Benefits of long-term burosumab persist in 11 girls with X-linked hypophosphatemia (XLH) who transitioned into adolescence during the phase 2 CL201 trial
15:35FC2.3Higher dose of burosumab is needed for treatment of children with severe forms of X linked hypophosphatemia
15:45FC2.4New imaging approaches to the quantification of musculoskeletal alterations in X-linked hypophosphatemic rickets (XLH)
15:55FC2.5Age and gender-specific reference data for high-resolution magnetic resonance based musculoskeletal parameters in healthy children and young people
16:05FC2.6Validation of a new version of BoneXpert bone age in children with congenital adrenal hyperplasia (CAH), precocious puberty (PP), growth hormone deficiency (GHD), Turner syndrome (TS), and other short stature diagnoses
14:45-16:15FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 3 - Multi-system endocrine disorders
Chair(s): Leena Patel (Manchester, United Kingdom) & Senthil Senniappan (LIverpool, UK)
F1
14:45RFC3.1European Registries For Rare Endocrine Conditions (EuRRECa): results from the pilot phase of The Platform For e-Reporting Of Rare Endocrine Conditions (e-REC)
14:50RFC3.2Factors affecting loss to follow-up for patients with chronic endocrine conditions during the pediatric period: a cohort study at a reference center for rare diseases
14:55RFC3.3The founder homozygous NR5A1 gene mutation p.R103Q causes asplenia and severe XY-DSD and XX-DSD in a Palestinian cohort
15:00RFC3.4Peripheral glucocorticoid metabolism may reflect resolution of inflammation in Kawasaki disease
15:05RFC3.5Evaluation of endothelial function in childhood standard risk acute lymphoblastic leukemia survivors: role of subclinical markers and identification of preventable factors
15:10RFC3.6Prevalence of endocrine complications in Duchenne muscular dystrophy
15:15FC3.1Germline-derived gain-of-function variants of Gsα-coding GNAS gene identified in nephrogenic syndrome of inappropriate antidiuresis: the first report
15:25FC3.2CFTR loss-of-function has effects on microRNAs (miRNAs) that regulate genes involved in growth, glucose metabolism and in fertility in in vitro models of cystic fibrosis
15:35FC3.3Variability in drug metabolizing cytochrome P450 activities caused by human genetic variations in NADPH cytochrome P450 oxidoreductase (POR)
15:45FC3.4Droplet digital PCR is a useful method for detection of mosaic mutations in patients with McCune–Albright syndrome
15:55FC3.5Evaluation of endocrine late effects in survivors of childhood allogeneic hematopoietic stem cell transplantation in Australia database from 1985 to 2011
16:05FC3.6Severe infections contribute to increased risk of early death in patients with apeced
14:45-16:15FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 1 - Diabetes and Insulin Session 1
Chair(s): Sabine Hofer (Innsbruck, Austria) & Reinhard Holl (Ulm, Germany)
E1
14:45RFC1.1Low prevalence of maternal microchimerism in Japanese children with type 1 diabetes
14:50RFC1.2Gabra5 contributes to sexual dimorphism in POMC neural activity and glucose metabolism
14:55RFC1.3The association between IGF-1 levels and nonalcoholic fatty liver disease (NAFLD) in adolescents with type 2 diabetes
15:00RFC1.4Estimation of MODY frequency and prevalent subtypes in pediatric patients by targeted NGS
15:05RFC1.5Decreased circulating levels of MOTS-c in individuals with newly diagnosed type 1 diabetes children
15:10RFC1.6An oral trace element supplementation has a potential beneficial effect on glucose homeostasis in transfused patients with β-thalassemia major complicated with diabetes mellitus
15:15FC1.1Insulin resistance leads to mitochondrial dysfunction in hepatocyte
15:25FC1.2Three new genes (PTPRD, SYT9, and WSF1) related to Korean maturity-onset diabetes in the young (MODY) children decrease insulin synthesis and secretion in human pancreatic beta cells
15:35FC1.3Next generation sequencing in Greek MODY patients increases diagnostic accuracy and reveals a high percentage of MODY12 cases
15:45FC1.4ABSTRACT WITHDRAWN
15:55FC1.5FADES: A birth cohort to understand the mechanisms underlying accelerated onset of autoimmunity in children with Down’s syndrome
16:05FC1.6A novel biochemical marker, fatty acid-binding protein 4, in diabetic ketoacidosis in children
16:15-16:30REFRESHMENT BREAK, POSTERS AND EXHIBITION
Exhibition Area
16:30-17:00PLENARY 2
Light, Body Clocks and Sleep: Biology to New Therapeutics
HALL A
Session head(s): Peter Clayton (Manchester, United Kingdom) & Annette Grüters (Heidelberg, Germany)
PL2Light, Body Clocks and Sleep: Biology to New Therapeutics
17:00-18:00MEET THE EXPERT 3.1
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
HALL B
MTE3.1Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
17:00-18:00MEET THE EXPERT 4.1
Klinefelter syndrome - when should testosterone be started
HALL C
MTE4.1Klinefelter syndrome - when should testosterone be started
17:00-18:00YEARBOOK OF PAEDIATRIC ENDOCRINOLOGY 1
HALL A
Session head(s): Wieland Kiess (Liepzig, Germany)
17:00YB1.1Adrenals
17:12YB1.2Antenatal and Neonatal Endocrinology
17:24YB1.3Bone, Growth Plate and Mineral Metabolism
17:36YB1.4Type 2 Diabetes, Metabolic Syndrome and Lipids
17:48YB1.5Editor's Choice
17:00-18:30FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 5 - Thyroid
Chair(s): Malgorzata Wasniewska (Messina, Italy) & A. S. Paul Van-Trotsenburg (Amsterdam, The Netherlands)
E2
17:00RFC5.1Hurthle cell carcinoma in childhood retrospective analysis of a large series
17:05RFC5.2Ultrasound features of multinodular goiter in DICER1 syndrome
17:10RFC5.3Experience of thyroid surgery in children with intraoperative neuromonitoring
17:15RFC5.4Thyroid dysfunction in patients following thymus transplantation in a tertiary centre: a 10-year experience
17:20RFC5.5A novel mutation in the thyroglobulin gene leading to neonatal goiter and congenital hypothyroidism in an Eritrean infant
17:25RFC5.6Complex single nucleotide polymorphisms in SEPINA 7 lead to TBG deficiency
17:30FC5.1Randomised trial of block and replace versus dose titration antithyroid drug treatment in children and adolescents with thyrotoxicosis
17:40FC5.2Lower proportion of CD19+IL-10+ and CD19+CD24hiCD27+ IL-10+, but not CD1d+CD5+CD19+CD24+CD27+ IL-10+ B cells in children with autoimmune thyroid diseases
17:50FC5.3Predominant DICER1 mutations in pediatric follicular thyroid carcinomas
18:00FC5.4Thyroid dysgenesis: exome-wide analysis identifies rare variants in genes involved in thyroid development and cancer
18:10FC5.5Identification of TRPC4AP as a novel candidate gene causing thyroid dysgenesis
18:20FC5.6Homozygous loss-of-function mutation in the SLC26A7 gene coding a novel iodide transporter causes goitrous congenital hypothyroidism
17:00-18:30FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 4 - Fat, metabolism and obesity
Chair(s): Julie Chowen (Madrid, Spain) & Moshe Philip (Petah Tikva, Israel)
E1
17:00RFC4.1Expression of miRNAs in circulating exosomes derived from patients with NAFLD
17:05RFC4.2Circulating exosomal miRNAs in children’s nonalcoholic steatohepatitis and the correlation with serum transaminase and uric acid
17:10RFC4.3Dysregulated gene expression profile in visceral adipose tissue of juvenile Wistar rats with catch-up growth: association with fat expansion and metabolic parameters
17:15RFC4.4The novel phosphatidylinositol-3-kinase (PI3K) inhibitor alpelisib effectively inhibits growth of PTEN haploinsufficient lipoma cells
17:20RFC4.5GDF5 increased white adipose tissue thermogenesis through p38 MAPK signaling pathway in fatty acid-binding protein 4-GDF5 transgenic mice
17:25RFC4.6Appetite suppressing effects of glucoregulatory peptides devoid of nausea
17:30FC4.1Involvement of visfatin in adipose tissue fibrosis through modulation of extracellular matrix proteins
17:40FC4.2Characterization of the adipose progenitor cell marker MSCA1 in normal weight and obese children
17:50FC4.3Circulating growth-and-differentiation factor-15 in early life: relation to prenatal and postnatal size
18:00FC4.4The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 gene reduces liver damage in obese children
18:10FC4.5Leptin gene methylation status in Egyptian infants
18:30FC4.6Brain satiety responses to a meal in children before and after weight management intervention
18:30-20:00Industry-Sponsored Satellite Symposia
20:00-21:30Informal ESPE Networking Event

Friday 20 September 2019

07:30-19:30REGISTRATION
08:30-09:30MEET THE EXPERT 5.1
Managing endocrinopathies in McCune-Albright Syndrome
E1
MTE5.1Managing endocrinopathies in McCune-Albright Syndrome
08:30-09:30MEET THE EXPERT 6.1
Management of Diabetic Ketoacidosis
HALL B
MTE6.1Management of Diabetic Ketoacidosis
08:30-09:30MEET THE EXPERT 7.1
Management of Graves disease
E2
MTE7.1Management of Graves disease
08:30-09:30MEET THE EXPERT 8.1
Management of neonatal hypoglycaemia
HALL C
MTE8.1Management of neonatal hypoglycaemia
08:30-09:30MEET THE EXPERT 1.2
Holistic approach to the individual with DSD
F1
MTE1.2Holistic approach to the individual with DSD
08:30-09:30YEARBOOK OF PAEDIATRIC ENDOCRINOLOGY 2
Chair(s): Feyza Darendeliler (Istanbul, Turkey)
HALL A
08:30YB2.1DSD and gender dysphoria
08:42YB2.2Growth and Growth Factors
08:54YB2.3Obesity and Weight Regulation
09:06YB2.4Oncology and Chronic Disease
09:18YB2.5Global Health for the Paediatric Endocrinologist
09:30-11:00FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 6 - Bone, growth plate and mineral metabolism Session 2
Chair(s): Poonam Dhamaraj (Liverpool, United Kingdom) & Ola Nilsson (Stockholm, Sweden)
HALL B
09:30RFC6.1EFTUD2 gene deficiency disturbs maturation of osteoblast and inhibits chondrocyte differentiation via activated p53 signaling
09:35RFC6.2High levels of LIGHT/TNFSF14 in Prader–Willi syndrome
09:40RFC6.3Increased burden of common risk alleles in children with a significant fracture history
09:45RFC6.4Targeted molecular genetic diagnosis by next generation sequence analysis method and investigation of responsible candidate genes in patients with osteogenesis imperfecta
09:50RFC6.5Evaluating genotype–phenotype correlation using an in vitro mutagenesis model in bi-allelic mutations resulting in extreme hypophosphatasia clinical phenotypes
09:55RFC6.6Genetic aetiology predicts growth hormone (GH) treatment outcomes in children born small-for-gestational-age with persistent short stature (SGA-SS). Lessons from a single-centre cohort
10:00FC6.1Bone tissue characterization of a mouse model of atypical type VI osteogenesis imperfecta reveals hypermineralization of the bone matrix, elevated osteocyte lacunar density and altered vascularity
10:10FC6.2Zone wise cell separation methods comparison, based on relative expression of specific growth plate markers in a pig model
10:20FC6.3Decreased trabecular bone mineral density and muscle area at the forearm despite improvement in glycaemic control over 3 years after simultaneous pancreas kidney transplantation
10:30FC6.4Metabolically unhealthy obese children and adolescents have higher bone mineral density than normal weighted controls but lower than metabolically healthy obeses: no effect of FGF21 levels
10:40FC6.5No change in bone density during 6 months off GH in adolescents with severe GHD at near-adult height
10:50FC6.6Craniosynostosis in inactivating PTH/PTHrP signaling disorder 2: a non-classical feature to consider
09:30-11:00FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 7 - Diabetes and Insulin Session 2
Chair(s): Birgit Rami-Merhar (Vienna, Austria) & Ram Weiss (Jerusalem, Israel)
HALL C
09:30RFC7.1Accuracy of glucose sensor estimate of HbA1c in children with type 1 diabetes
09:35RFC7.2β-cell function and glucose effectiveness in the development of impaired fasting glucose in obese European children and adolescents
09:40RFC7.3Osteopontin as an early urinary marker of diabetic nephropathy in adolescents with type 1 diabetes mellitus
09:45RFC7.4Handgrip strength correlates with insulin resistance and the metabolic syndrome in children and adolescents: analysis of the Korean National Health and Nutrition Examination Survey 2014-2016
09:50RFC7.5Dual diagnosis of type 1 diabetes and ADHD
09:55RFC7.6Health-related quality of life and diabetes control in immigrant and Italian children and adolescents with type 1 diabetes and in their parents
10:00FC7.1Deployment of a predictive model based on CpG methylation haplotypes analysis on the insulin gene promoter, in a cohort of children and adolescents with type 1 diabetes
10:10FC7.2Copeptin kinetics and its relationship to osmolality during rehydration for diabetic ketoacidosis in children: an observational study
10:20FC7.3ABSTRACT WITHDRAWN
10:30FC7.4Metabolic syndrome features in pre-pubertal children born after maternal pre-eclampsia
10:40FC7.5Is the 1-hour post-load glucose level by 75g oral glucose tolerance test a new risk factor in predicting atherosclerosis?
10:50FC7.62017 American Academy of Pediatrics Clinical Practice Guideline: impact on prevalence of arterial hypertension in children and adolescents with type 1 diabetes mellitus
09:30-11:00FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 8 - Pituitary, neuroendocrinology and puberty Session 1
Chair(s): Evelien Gevers (London, United Kingdom) & Juliane Léger (Paris, France)
E1
09:30RFC8.1Trade-off between olfactory bulb and eyeball volume in precocious puberty
09:35RFC8.2Investigation of imprinting alterations in MKRN3 and DLK1 in a cohort of girls with central precocious puberty through specific DNA methylation analysis
09:40RFC8.3Central precocious puberty caused by novel mutations in the promoter and 5′-UTR region of the imprinted MKRN3 gene
09:45RFC8.4Evaluation of puberty in patients with Noonan syndrome and mutations in the RAS/MAPK genes
09:50RFC8.5CHD7 mutations in patients with anosmic or normosmic idiopathic hypogonadotropic hypogonadism
09:55RFC8.6Growth, pubertal course and long-term outcome of 46,XY boys born with atypical genitalia and low birthweight
10:00FC8.1Hypothalamic AgRP neurons drive endurance in food-restricted mice
10:10FC8.2Analysis of hypothalamic metabolic circuits after normalization of body weight in mice that had been obese due to high fat diet intake
10:20FC8.3Absence of central adrenal insufficiency in adults with Prader-Willi syndrome
10:30FC8.4Peripheral and hypothalamic alterations in the insulin like growth factor IGF system in response to high fat diet induced weight gain
10:40FC8.5LGR4-Wnt β-catenin signalling directs GnRH network development, with defects leading to self-limited delayed puberty
10:50FC8.6Source and changes in serum level of kisspeptin in female rats at different developmental stages
09:30-11:00FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 9 - Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia)
Chair(s): Pratik Shah (London, United Kingdom) & Jacques Beltrand (Paris, France)
E2
09:30RFC9.1Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening results
09:35RFC9.2Age-specific reference values for plasma FT4 and TSH concentrations in healthy, term neonates at day three to seven, and 13 to 15 of life
09:40RFC9.3Neonatal screening for congenital hypothyroidism analysis of a large cohort of affected patients 1987 2017 and relationship with perfluoroalkylated substances PFAs in north eastern Italy
09:45RFC9.4Correlation between genotype and phenotype characteristics in children with congenital hyperinsulinism (CHI) in a specialist centre
09:50RFC9.5Spectrum of neuro-developmental disorders in children with congenital hyperinsulinism due to activating mutations in GLUD1
09:55RFC9.6Extra uterine growth restriction (EUGR) in very low birth weight infants: growth recovery and neurodevelopment by the corrected age of 2 years old
10:00FC9.1Using CRISPR/Cas9 gene editing to study the molecular mechanisms of congenital hyperinsulinism (CHI)
10:10FC9.2Heterozygous insulin receptor (INSR) mutation associated with neonatal hyperinsulinaemic hypoglycaemia and familial diabetes mellitus
10:20FC9.3DNA methylation signatures in placenta and umbilical cord: association with maternal obesity
10:30FC9.4Prenatal environment and genetic background influence urinary steroid excretion in monozygotic twins with intra-twin birth-weight differences
10:40FC9.5Iodine status of pregnant women and their newborns in the UK – the MABY study
10:50FC9.6[18F]F-DOPA-PET/MRI or /CT in children with congenital hyperinsulinism
09:30-11:00FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 10 - Sex differentiation, gonads and gynaecology or sex endocrinology
Chair(s): Ken McElreavey (Paris, France) & Anna Nordenström (Stockholm, Sweden)
F1
09:30RFC10.1Contemporary surgical approach in CAH 46XX – results from the I-DSD/I-CAH registries
09:35RFC10.2Cryptorchid boys with abrogated mini-puberty display differentially expressed genes involved in sudden infant death syndrome
09:40RFC10.3Level of uncertainty in diagnostic evaluation of boys with XY disorders of sex development (DSD)
09:45RFC10.4qPCR screening for Xp21.2 copy number variations in patients with elusive aetiology of 46,XY DSD
09:50RFC10.5Variants in NWD1 gene leading to different degrees of gonadal dysgenesis
09:55RFC10.6A mutation in the nucleoporin-107 gene causes aberrant Dpp/BMP signaling and XX gonadal dysgenesis
10:00FC10.1Investigating the roles of androgens in male reproductive development, maintenance and function by characterisation of androgen and cortisol deficient 11ß-hydroxylase mutant zebrafish lines
10:10FC10.2The fruit fly, Drosophila melanogaster, as a model to elucidate human differences of sex development (DSD)
10:20FC10.3Mutations in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
10:30FC10.4Loss-of-function and missense mutations in MYRF are a novel cause of autosomal dominant 46,XY Leydig cell hypoplasia and 46,XY gonadal dysgenesis
10:40FC10.5Transcriptome analysis of novel Sertoli cell models to highlight potential genes involved in DSD mechanism of disease
10:50FC10.6Evaluation of basal and GnRH stimulated AMH levels in central precocious puberty peripheral precocious puberty and premature thelarche
09:30-11:00ERN SESSION
Chair(s): Anita Hokken-Koelega (Rotterdam, The Netherlands) & Peter Clayton (Manchester, United Kingdom)
F2
09:30ERN1.1Progress in ENDO-ERN
09:45ERN1.1The Lifelong management of Childhood Craniopharyngioma
10:15ERN1.2ePAG Representitive
10:30ERN1.3Thyroid Signalling Defects
11:00-11:30REFRESHMENT BREAK, POSTERS & EXHIBITION
Exhibition Area
11:30-12:00ESPE AWARDS - Andrea Prader Prize
HALL A
Session head(s): Peter Clayton (Manchester, United Kingdom)
12:00-12:30PLENARY 3
Chair(s): Nils Krone (Sheffield, United Kingdom) & Keiichi Ozono (Osaka, Japan)
Glucocorticoid rhythms, stress response and the brain from neonates to adults
HALL A
PL3Glucocorticoid rhythms, stress response and the brain from neonates to adults
12:30-13:00ESPE AWARDS
HALL A
ESPE Hormone Research in Paediatrics Prizes - Supported by S. Karger AG
IFCAH - ESPE Award - Supported by the International Fund Research on Congenital Adrenal Hyperplasia
ESPE International Outstanding Clinician Award
Outstanding Clinician Award
13:00-14:30LUNCH, POSTERS & EXHIBITION
Exhibition Area
13:15-14:15Industry-Sponsored Satellite Symposia
14:00-16:00Global Pediatric Endocrinology and Diabetes (GPED) - The Long Winding Road towards Sustainable Access to Affordable Insulin
Chair(s): Reiko Horikawa (Japan) & Ganesh Jevalikar (India)
F1
14:00Introduction
14:05Why are we failing to address the issue of access to insulin in low- and middle- income countries? A global perspective
14:35Insulin access: from the model list of essential medicines to the patient: new WHO initiatives
15:05Access to insulin in China: barriers and opportunities
15:35Round table: how to be a leader on insulin access in your country?
14:30-16:00CONTROVERSY
Does obesity need tertiary care provision?
HALL A
Session head(s): Evangelia Charmandari (Athens, Greece)
CON1.1PRO: Does obesity need tertiary care provision?
CON1.2CON: Does obesity need tertiary care provision?
14:30-16:00SYMPOSIUM 5
Chair(s): Andrew Dauber (Washington, USA) & Irène Netchine (Paris, France)
Impact of genomics on growth
E1
S5.1Novel insights into genetic disorders of growth
S5.2SHOX: From Basic Research to Complex Models and Therapy
S5.3The role of KCNQ1in pituitary development
14:30-16:00SYMPOSIUM 6
Chair(s): Sabine Hannema (Leiden, The Netherlands) & Gary Butler (London, United Kingdom)
Endocrinology meets diversity: Transgender Youth
HALL B
S6.1Impact of cross-gender hormone treatment on structural brain networks
S6.2Psychiatric comorbidities in Transgender Youth
S6.3Gynecological aspects and fertility issues in transgender adolescents
14:30-16:00SYMPOSIUM 7 - New Horizens in the Management in Adrenal Insufficiency
Chair(s): Christa Flück (Bern, Switzerland) & Walter Bonfig (Grieskirchen, Austria)
HALL C
S7.1Novel interventions to treat adrenal insufficiency
S7.2Novel insights into the pathophysiology of adrenal insufficiency syndromes
S7.3Widening the horizon - Clinical relevance of steroid hormone pathways
14:30-16:30ESPE Nursing and Allied Health Working Group (PENS)
F2
Session head(s): Christine Derycke (Brussels, Belgium)
14:30WG8.1New topics in Turner Syndrome
14:50Discussion
14:55WG8.2Care and Follow up of girls with Turner Syndrome in Northern Sweden
15:15Discussion
15:20WG8.3What’s New in CAH?
15:40Discussion
15:45WG8.4Gynaecologic nursing care for CAH
16:05Discussion
16:10WG8.5Patient perspectives on CAH
16:00-16:30PLENARY 4
Chair(s): Anders Juul (Copenhagen, Denmark) & Luca Persani (Milan, Italy)
HPG -Nutrition and the hypothalamo-pituitary-gonadal axis
HALL A
PL4HPG -Nutrition and the hypothalamo-pituitary-gonadal axis
16:30-16:45REFRESHMENT BREAK, POSTERS & EXHIBITION
Exhibition Area
16:45-18:15Industry-Sponsored Satellite Symposia
17:00-18:00NOVEL ADVANCES 1
Chair(s): Nicolas de Roux (Paris, France)
Stem cell reprogramming, IPS cells
HALL B
NA1Single Cell technologies
18:15-19:30ESPE ANNUAL BUSINESS MEETING
F2

Saturday 21 September 2019

07:30-18:30REGISTRATION
08:00-09:00MEET THE EXPERT 2.2
The Interpretation of Abnormal Thyroid Function Tests in Children and Adolescents
E1
MTE2.2The interpretation of abnormal thyroid function tests in children and adolescents
08:00-09:00MEET THE EXPERT 3.2
Clinical Practice Guidelines for the Care of Girls and Women with Turner Syndrome: Proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
HALL B
MTE3.2Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International
08:00-09:00MEET THE EXPERT 4.2
Klinefelter syndrome - when should testosterone be started
E2
MTE4.2Klinefelter syndrome - when should testosterone be started
08:00-09:00MEET THE EXPERT 5.2
Managing endocrinopathies in McCune-Albright Syndrome
HALL C
MTE5.2Managing endocrinopathies in McCune-Albright Syndrome
08:00-09:00YEARBOOK OF PAEDIATRIC ENDOCRINOLOGY 3
HALL A
08:00YB3.1Pituitary and Neuroendocrinology
08:12YB3.2Puberty
08:24YB3.3Thyroid
08:36YB3.4Type 1 Diabetes
08:48YB3.5The Year in Science & Medicine
09:00-10:30HOW DO I...
Chair(s): Marco Cappa (Rome, Italy)
HOW DO I...SESSION 2
HALL A
09:00HDI2.1How do I…. Manage micropenis in a child?
09:30HDI2.2How Do I... Diagnosing growth hormone resistance?
10:00HDI2.3How Do I... Manage of an asymptomatic child with T1D and transglutaminase positivity?
09:00-10:30FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 11 - Pituitary, neuroendocrinology and metabolism Session 2
Chair(s): Gerhard Binder (Tübingen, Germany) & Katharina Main (Copenhagen, Denmark)
HALL B
09:00RFC11.1National United Kingdom evidence- and consensus-based guidelines for the investigation, treatment and long-term follow-up of paediatric craniopharyngioma
09:05RFC11.2Prevalence and predicting factors of endocrine dysfunction in children with NF1 and optic gliomas
09:10RFC11.3Polycystic ovarian syndrome in adolescents: utilising discovery proteomics and the search to identify novel non-invasive biomarkers
09:15RFC11.4Increased adrenal and testicular androgen concentrations before puberty and in early puberty correlate to adult height outcomes in males with Silver–Russell syndrome
09:20RFC11.5IGF-1 serum concentrations and growth in children with congenital leptin deficiency (CLD) before and after replacement therapy with metreleptin
09:25RFC11.6Final height reduction in transgender adolescent girls: a case series
09:30FC11.1Phenotypic characterization of a large pediatric cohort of patients with genetic forms of congenital hypopituitarism
09:40FC11.2A novel minor spliceosome defect associated with growth hormone deficiency GHD and primary ovarian insufficiency POI
09:50FC11.3A novel genetic aetiology for familial neonatal central diabetes insipidus
10:00FC11.4Whole exome sequencing in a familial case of adamantinomatous craniopharyngioma revealed two hits affecting Wnt-signaling pathway
10:10FC11.5Survival, endocrine disorders and quality of life in 135 children with craniopharyngioma after surgical or combined treatment
10:20FC11.6Pubertal timing in parents is associated with timing of pubertal milestones in offspring of concordant sex – but only inconsistently with milestones in offspring of discordant sex
09:00-10:30FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 12 - Growth and syndromes (to include Turner syndrome)
Chair(s): Sandro Loche (Cagliari, Italy) & Helen Storr (London, United Kingdom)
HALL C
09:00RFC12.1Karyotyping of oocytes, granulosa cells and stromal cells in the ovarian tissue from patients with Turner syndrome: a pilot study
09:05RFC12.2Treatment with growth hormone increases Klotho concentration in patients with Turner syndrome
09:10RFC12.3Imprinting defects and copy number variations in short children born small for gestational age
09:15RFC12.4NIPBL is required for postnatal growth and neural development
09:20RFC12.5Cognitive and neuroradiological assessments in Silver Russell patients
09:25RFC12.6Exploring the usefulness of a new type of pubertal height reference based on growth aligned or onset of pubertal growth
09:30FC12.1Increasing knowledge in IGF1R defects: lessons from 20 new patients.
09:40FC12.2NPR2 gene mutations were found in 5.4% children with familial short stature
09:50FC12.3Growth hormone treatment in adults with Prader–Willi syndrome has sustained positive effects on body composition
10:00FC12.4Integration of transcriptomic and epigenomic data in childhood identifies a subset of individuals born small for gestational age (SGA) with “catch-up” growth who become pre-hypertensive in early adulthood
10:10FC12.5Integrated analysis of baseline blood transcriptome and genome identifies clusters of Turner syndrome patients with different responses to recombinant human growth hormone
10:20FC12.6An integrated systems biology analysis of the genome, epigenome and transcriptome identifies a distinct pattern of hypermethylation associated with low childhood growth
09:00-10:30FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 13 - Adrenals and HP axis
Chair(s): Stefan Wudy (Gießen, Germany) & Angela Huebner (Dresden, Germany)
E1
09:00RFC13.1Children and adolescents in the United States with congenital adrenal hyperplasia are not at increased risk for attention-deficit/hyperactivity disorder
09:05RFC13.2Development of novel non-invasive strategies for monitoring of treatment control in patients with congenital adrenal hyperplasia
09:10RFC13.3Establishment of reference intervals for hair cortisol in healthy children aged 0-18 years using mass spectrometric analysis
09:15RFC13.4Loss-of-function NNT mutations impair antioxidants mechanisms and decreases cortisol secretion in patients with familial glucocorticoid deficiency
09:20RFC13.5Genetics of familial glucocorticoid deficiency over the decades: phenotypic variability and associated features
09:25RFC13.6Inhibitory effects of curcuminoids on the enzymes from the steroidogenic pathway
09:30FC13.1Peptide MC2R antagonists as a new potential therapeutic approach for congenital adrenal hyperplasia
09:40FC13.2Sexual dimorphism in cortisol production and metabolism throughout pubertal development: a longitudinal study
09:50FC13.3YAP1-HIPPO pathway as a novel prognostic marker and therapeutic target for pediatric patients with adrenocortical tumors (ACT)
10:00FC13.4Biphasic glucocorticoid rhythm in one-month old infants: reflection of a developing HPA-axis?
10:10FC13.5SGPL1 deficiency leads to downregulation of key enzymes within the steroidogenic pathway
10:20FC13.6Insights into the role of cortisol in the formation of the Clock/Bmal1 complex and its interaction with dsDNA, via molecular dynamics simulations
09:00-10:30FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 14 - GH and IGF1
Chair(s): Ivo Arnhold (Sao Paulo, Brazil) & Joachim Woelfle (Erlangen, Germany)
E2
09:00RFC14.1Papp-a2 deficiency results in sex-dependent modifications in hypothalamic regulation of energy homeostasis
09:05RFC14.2Deciphering genetic aetiology among children born small-for-gestational-age with persistent short stature (SGA-SS): phenotypic characteristics at diagnosis in a large single-centre cohort
09:10RFC14.3MicroRNAs change and target key regulatory genes involved in longitudinal growth in patients with idiopathic isolated growth hormone deficiency (IGHD) on growth hormone (GH) treatment
09:15RFC14.4GHR transcript heterogeneity may explain the phenotypic variability in patients with homozygous GHR pseudoexon (6Ψ) mutation
09:20RFC14.5Bioactive IGF-I concentration compared to total IGF-I concentration before and after 1 year of high-dose growth hormone in short children born small for gestational age – North European SGA Study (NESGAS)
09:25RFC14.6Growth hormone deficiency (GHD): assessing burden of disease in children and adolescents: the growth hormone deficiency – child impact measure (GHD-CIM)
09:30FC14.1Inhibition of IGF1R by IGF1R/IR inhibitor OSI906 as a targeted therapy for glioblastoma: in vitro & in vivo studies
09:40FC14.2Pubertal onset in 1572 girls with short, normal and tall stature: associations to height, serum IGF-I and PAPP-A2 genotypes
09:50FC14.3Papp-a2 deficiency induces sex-specific changes in hydroxyapatite-(CaOH) crystallinity and the effects of IGF-1 on bone composition in adult mice
10:00FC14.4Once-weekly TransCon hGH vs. Daily hGH in pediatric growth hormone deficiency: the phase 3 heiGHt trial
10:10FC14.5Once-weekly somapacitan vs daily growth hormone (Norditropin®) in childhood growth hormone deficiency: One-year results from a randomised phase 2 trial
10:20FC14.6Effects of 8 years of growth hormone treatment on cognition in children with Prader–Willi syndrome
09:00-10:30FREE COMMUNICATIONS & RAPID FREE COMMUNICATIONS 15 - Late Breaking Session
Chair(s): Lou Metherell (London, UK) & Yves Le-Bouc (Paris, France)
F1
09:00RFC15.1Preclinical studies of acrodysostosis gene aav therapy in a knock in r368 x prkar1 a mouse model
09:05RFC15.2BMP4 mutations as a novel cause of normosmic hypogonadotropic hypogonadism
09:10RFC15.3Metformin treatment affects ACTH receptor activation and downstream signaling: a potential treatment for ACTH excess disorders and management of hyperandrogenic states
09:15RFC15.4Clinical and genetic characterization of 148 patients with persistent or transient congenital hyperinsulinism: a population-based study in Finns
09:20RFC15.5De novo missense mutation in SP7 in a patient with cranial hyperostosis, long bone fragility, and increased osteoblast number
09:25RFC15.6Absence of puberty and estrogen resistance by estrogen alpha receptor inactivation in two sisters: a mutation for variable phenotypic severity
09:30FC15.1DLG2 mutations in patients with delayed or absent puberty
09:40FC15.2HDAC4 mutations cause diabetes and induce β-cell FoxO1 nuclear exclusion
09:50FC15.3The P450 side-chain cleavage isozyme cyp11a2 facilitates interrenal and gonadal steroid hormone biosynthesis in developing and adult zebrafish
10:00FC15.4Defects in the GnRH neuroendocrine network affect the timing of puberty
10:10FC15.5Effects of Bifidobacterium animalis subsp. lactis on children with Prader–Willi syndrome: a randomized, double-blind, placebo-controlled, crossover trial
10:20FC15.6Leptin influences the down-regulation of UCP-1 expression in brown adipose tissue during negative energy balance
10:30-11:00REFRESHMENT BREAK, POSTERS & EXHIBITION
Exhibition Area
11:00-11:30PLENARY 5
Chair(s): Stefan Riedl (Vienna, Austria) & Faisal Ahmed (Glasgow, United Kingdom)
How to reduce waste and increase value in translational biomedical research
HALL A
PL5How to reduce waste and increase value in translational biomedical research
11:30-12:00ESPE AWARDS
ESPE Research Award
HALL A
Session head(s): Agnès Linglart (Paris, France)
12:00-12:30PLENARY 6
Chair(s): Mehul T. Dattani (London, United Kingdom) & Rasa Verkauskiene (Kaunas, Lithuania)
Pituitary Gigantism - an update
HALL A
PL6Pituitary Gigantism - an update
12:30-14:00LUNCH, POSTERS & EXHIBITION
Exhibition Area
12:45-13:45Industry Sponsored Satellite Symposia
14:00-15:00YOUNG INVESTIGATORS SESSION
F1
Session head(s): Faisal Ahmed (Glasgow, United Kingdom)
YI1.1In search for novel monitoring tools to detect chronic over- or under-treatment in children with CAH
YI1.2The role of the gut microbiome in metabolism
ESPE Young Investigator Awards
14:00-15:00MEET THE EXPERT 6.2
Management of Diabetic Ketoacidosis
HALL B
MTE6.2Management of Diabetic Ketoacidosis
14:00-15:00MEET THE EXPERT 7.2
Management of Graves disease
E2
MTE7.2Management of Graves disease
14:00-15:00MEET THE EXPERT 8.2
Management of neonatal hypoglycaemia
HALL C
MTE8.2Management of neonatal hypoglycaemia
14:00-15:00NOVEL ADVANCES 2
Genetic imprinting analysis in clinical practice
E1
NA2Genetic imprinting analysis in clinical practice
15:00-15:30REFRESHMENT BREAK, POSTERS & EXHIBITION
Exhibition Area
15:30-17:00SYMPOSIUM 8
Chair(s): Elke Froehlich-Reiterer (Graz, Austria) & Loredana Marcovecchio (Cambridge, United Kingdom)
Autoimmunity: From diagnosis to treatment
E1
15:30S8.1New autoantibodies in endocrine autoimmunity development: Lessons from APECED
16:00S8.2Novel monogenic forms of autoimmune diabetes
16:30S8.3Bone marrow transplant for genetically determined autoimmunity
15:30-17:00SYMPOSIUM 9
Chair(s): Stepanka Pruhova (Prague, Czech Republic) & Francesco Chiarelli (Chieti, Italy)
Heterogeneity of paediatric diabetes
HALL B
S9.1Diversity in monogenic diabetes management and prognosis
S9.2Diagnostic and therapeutic implications of double diabetes
S9.3Obesity and T2 diabetes: How to find a population at risk
15:30-17:00SYMPOSIUM 10
Chair(s): Cheri Deal (Montreal, Canada)
Brain development and sex: Is it chromosomes or hormones?
E2
S10.1Multifaceted origins of sex differences in the brain
S10.2The pubertal brain
S10.3How hormones impact on emotion and cognition --- new insights from Magnetic resonance imaging
15:30-17:00SYMPOSIUM 11
Chair(s): Leo Dunkel (London, United Kingdom) & Mohamad Maghnie (Genoa, Italy)
Recent advances in our understanding of Hypogonadotrophic hypogonadism
HALL C
S11.1Novel insights into the molecular basis of hypogonadotrophic hypogonadism
S11.2Novel insights into the regulation of reproduction from 3D imaging of the GnRH and kisspeptin neuronal populations
S11.3Novel insights into the role of semaphorin signalling in GnRH neuron development and failure
17:00-17:30ESPE AWARDS
HALL A
ESPE International Award
ESPE President Poster Awards
17:30-18:00PLENARY 7
Chair(s): Asma Deeb (Abu Dhabi, UAE) & Tadej Battelino (Ljubljana, Slovenia)
Novel advances in artificial pancreas development
HALL A
PL7Novel advances in artificial pancreas development
18:00-18:15ESPE 2019 CLOSING CEREMONY
HALL A
19:00-00:00THE ESPE EVENING
THE CITY HALL