Introduction

Case Presentation

Case presentation

Androgen insensitivity syndrome Type 1

Androgen insensitivity syndrome Type 2

Discussion with attendees

Concluding Remarks

The ESPE Obesity Working Group

Environmental contributions to obesity development

New treatment in children and adolescents with obesity

Overweight and obesity in European Young Children: ToyBox-study lessons

Q&A

Radiology of rare and less rare skeletal dysplasia

Genetics of rare skeletal dysplasia

2x clinical case from working group members

Introduction

Stage 1/Stage 2 T1DM – how do we monitor outside of clinical studies?

CGM use in Stage 2 T1DM

Immune intervention of newly diagnosed of T1DM – where are we today?

Discussion - Round Table

Early puberty: connecting nutritional status and pubertal activation

Environmental programming of early pubertal onset

Management of early puberty : adaptation or overmedicalization?

Gender dysphoria and autism, implications for diagnosis and decision making

Animal models of transgender care, advantages and drawbacks

Moral dilemmas surrounding puberty suppression in transgender adolescents’

Challenges and opportunities in prenatal and postnatal diagnosis of Turner Syndrome & Parents’ Testimony

Medical aspects

Psychological aspects

Ethical considerations

Panel discussion (interactive)

I-TS & pubertal induction study

Update form TSWG and Disclosure

Global Health for the Paediatric Endocrinologist

Type 2 Diabetes, Metabolic Syndrome and Lipids

Obesity and Weight Regulation

Adrenal

The Year in Science & Medicine

Identification of novel genes including NAV2 associated with isolated tall stature

Familial pseudohypoparathyroidism type IB associated with an SVA retrotransposon insertion in the GNAS locus.

High incidence of Chiari type I anomalies on MRI in young patients with X-linked hypophosphatemic rickets (XLHR)

Documentation of inactivating PTH/PTHrP Signaling Disorders (Pseudohypoparathyroidism) cases in EuRRECa / EuRR-Bone: a challenging, but worthwhile journey

Growth in young children with X-linked hypophosphatemia treated with burosumab

Short term side effects of first bisphosphonate infusion in children with different underlying bone pathologies.

Fasting and meal-related zonulin serum levels in a large cohort of obese children and adolescents: a cross sectional study

Reduced central sensitivity to thyroid hormones in children and adolescents with overweight or obesity and impaired glucose tolerance.

Early Corneal Nerve Loss in Children with Melanocortin 4 Receptor (MC4R) Gene Mutation Related Obesity

Effect of maternal diet and breastfeeding on growth and distribution of adiposity from birth up to 12 months: data from the European LIFE-MILCH project

Multi-omics Reveals molecule target Underlying Adolescent obesity with metabolic syndrome

Glucocorticoid-mediated leptin secretion from human adipocytes is dependent on glucose availability

Functional networks reveal pathways linking early growth to childhood blood pressure in the Manchester BabyGRO Study

Molecular genetic diagnosis in children with Idiopathic Short Stature: Single Center Experience

Aromatase inhibitors: an effective and safe option for height increment in boys with growth hormone deficiency?

Genetic findings in short Turkish children born to consanguineous parents

Real-world safety and effectiveness of vosoritide: Results from an early access program in France

Results from the PROPEL 2 dose-finding study: oral infigratinib leads to significant increases in height velocity with good tolerability in children with achondroplasia

Tear proteomics profile in children and adolescents with type 1 diabetes mellitus

Comparison of Optical Coherence Tomography Angiography Findings in Children with Type 1 Diabetes Mellitus and Autoimmune Thyroiditis with Healthy Children

3 Screen ICA ELISA–A new tool to identify pre-clinical diabetes in first-degree relatives of patients with type 1 diabetes (pre-d1abetes study)

Effect of probiotic on glycemic control in children with type 1 diabetes : A randomized controlled trial

Syndrome of hypoglycemia unawareness in children with type 1 diabetes: clinical contribution of Clark and Gold questionnaire

Do females with Type 1 Diabetes have puberty earlier?

Investigating intergenerational effects of glucocorticoids

The pathophysiologic response of central nervous system due to differently impaired steroidogenesis

Response to Crinecerfont Treatment in Adolescents with Classic Congenital Adrenal Hyperplasia Is Correlated with Elevated Baseline Hormone Concentrations but Not Glucocorticoid Dose

Generation and Characterization of a novel Humanized CYP21A2 Knock-in Mouse Model for Congenital Adrenal Hyperplasia

Management of congenital adrenal hyperplasia in the first 90 days of life: a multi-centre I-CAH analysis of contemporary practice

Cardiovascular risk profile in adult patients with congenital adrenal hyperplasia: a cross-sectional study

Hearing loss in pseudohypoparathyroidism (inactivating PTH/PTHRP Signaling Disorder): a prospective study to assess prevalence and predictive factors of hearing loss in 44 patients affected with iPPSD/PHP

First Results of the Global ALPL Gene Variant Classification Project

Hyperparathyroidism after three years of burosumab in children affected with x-linked hypophosphatemia

A real-world study in Germany and Switzerland regarding renal health in children with X-linked hypophosphatemia

Generation of novel genetic zebrafish models and using RNA-seq analysis to explore the role of ankrd11 gene on bone growth

Human breast milk-derived exosomes promote growth plate cell lines in vitro

Early childhood height and weight development in children with monogenic obesity: A European multicenter cohort study

Analysis of ligand- and mutation-dependent signaling of the melanocortin 4 receptor (MC4R): an example of the relevance of differential signaling (bias signaling)

Frequency of Obesity-Related Gene Variants in a European Population With Early-Onset, Severe Obesity

A Novel Mutation in DYRK1B Associated With Abdominal Obesity Metabolic Syndrome 3 (AOMS3)

Early corneal nerve loss in children with obesity and type 2 diabetes

Impact of Setmelanotide on Future Metabolic Syndrome Risk in Pediatric Patients With Bardet-Biedl Syndrome

Heterozygous Null Mutations in FLNB as a Cause of apparent isolated Short Stature in Chinese Children

Genetic and phenotypic features of children with familial tall stature

Pathogenic variants in GHSR cause short stature and growth hormone neurosecretory dysfunction; results from a large case series

Growth failure in aggrecan haploinsufficiency is due to a decrease in growth plate matrix volume and hypertrophic cell size

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

Persistence of Growth Promoting Effects in Infants and Toddlers with Achondroplasia: Results in Children Aged Over 2 Years Old from a Phase II Extension Study with Vosoritide

Diabetes mellitus and gender incongruence: Worse metabolic control in type 1 and higher mental health issue rates in type 1 and 2 diabetes – a DPV registry study

Nailfold capillaroscopy: An alternative non-invasive tool for evaluating microvascular involvement in children with type 1 diabetes

How feasible is it to meet the Time in Tight Range (TITR) target with Automatic Insulin Delivery (AID)?: 2128-day real-world data from a single center

Changes of intestinal flora in children with type 1 diabetes mellitus and its related immune mechanism

Sleep Characteristics, Glycemic Control, and Endothelial Function in Adolescents and Young Adults with Type 1 Diabetes

Post-Hypoglycemic Hyperglycemia Are Highly Relevant Markers For Stratification Of Glycemic Variability and Remission Status Of Pediatric Patients With New-Onset Type 1 Diabetes.

Pharmacological manipulation of bone maturation should be used to preserve final height in short children (FOR)

Pharmacological manipulation of bone maturation should NOT be used to preserve final height in short children (AGAINST)."

Clinical application of LH cut-off value in the diagnosis of CPP according to the international consensus

Psychosocial Evaluation of Girls with Rapidly Progressive Puberty Presenting with Early Menarche

Exposure to Per- and Polyfluoroalkyl Substances and Pubertal Assessment by Ultrasound in Norwegian Boys and Girls: Data from the Bergen Growth Study 2

Earlier Occurrence of Puberty and Pubertal Hair Development in Boys and Girls - Insights from the DPV Initiative Data

EFFICACY AND SECURITY OF GONADOTROPIN TREATMENT IN ADOLESCENTS WITH CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

Evaluation of Serum MKRN3 and DLK1 Concentrations for Predicting Variant Detection in MKRN3 and DLK1Genes in Patients with Central Precocious Puberty

Penile width increases more clearly than penile length during minipuberty: a longitudinal study of 136 healthy infant boys

International Evidence-Based Guidelines for PCOS 2023: Recommendations in Adolescent Girls

Histone code, cryptorchidism,infertility

Serum steroid metabolome dynamics during infancy: a prospective, longitudinal cohort of healthy boys

Sex differences in endocrine mechanisms during early human fetal brain development

Prenatal AnoGenital Distance (AGD) by ultrasonography in 571 fetuses and correlation to postnatal AGD: A longitudinal cohort study of healthy males and females

A novel heterozygous likely pathogenic variant in GNB1 causing hyperphagia, severe early onset obesity and neurodevelopmental disorder

Acute rise of leptin after five days of dexamethasone and its association with hunger, fat mass, sleep and fatigue, in children with acute lymphoblastic leukemia

Higher levels of serum α-Klotho are longitudinally associated with less visceral fat accumulation in apparently healthy girls experiencing weight gain

Understanding the genetics of early onset obesity in a cohort of children from Qatar

Effects of leptin knockdown on a human preadipocyte model

Leukocytes and Neutrophil–Lymphocyte Ratio as Indicators of decreased insulin sensitivity in NGT Overweight and Obese Children with high 1-hour post-load plasma glucose levels

The association of dietary glycemic index and load with insulin sensitivity and secretion from early childhood to late adolescence: the QUALITY cohort

Two new candidate genes,OGDH and FGFR1 discovered in an insulinoma from a fifteen-year-old male

Impaired Insulin Secretion as a Pathophysiology Underlying Abnormal Glucose Metabolism in Pediatric Acute Lymphoblastic Leukemia (ALL) Survivors: A Study Comparing Glucose Metabolism between ALL Survivors and Simple Obese Children

Clinical and genetic characteristics of patients suspected to have Maturity-Onset Diabetes of the Young in the Czech Republic

Insulin secretion defect in children and adolescents with obesity: Clinical and molecular genetic characterization

Wharton jelly derived mesenchymal stem cells exosomes protect pancreatic beta cells from inflamation

A novel maternally inherited GNAS variant in a family with hyperphagia and obesity.

Utility of Continuous Glucose Monitoring (CGM) during pancreatic surgery in patients with Congenital Hyperinsulinism

Non-coding Variants in HK1 Account for 5% of Cases of Congenital Hyperinsulinism Without an Identified Genetic Cause

Clinical phenotypes of a multicentric cohort of ROHHAD patients

Insulinoma in childhood: A multicenter retrospective study of 28 patients

Two novel mutations in the DCAF17 gene in two Palestinian families with primary amenorrhea revealing molecular genetics in Woodhouse-Sakati syndrome & unique presentation

Methylome analysis in idiopathic central precocious puberty girls

The role of body composition and appetite-regulating hormones in idiopathic central precocious puberty and their changes during GnRH analogue therapy.

Is the 24-hour urinary gonadotropin assay an effective diagnostic tool in central precocious puberty? A retrospective study of threshold setting and validation in two cohorts.

Sleeptime-excreted total urinary luteinizing hormone concentrations reveal that the onset of central puberty occurs at around the same time in boys and girls: a longitudinal study

Clinical characteristics of 213 children with early pubertal development complicated with pineal cyst

Serum Kisspeptin and DLK1 levels as a tool for diagnosis and monitoring of central precocious puberty treatment in Thai girls

Polygenic scores for testosterone and SHBG are associated with hormone levels in male infants

Mapping the transcriptomic landscape of early human fetal ovary development through a clinically-focused lens

ROS scavengers may improve genital skin healing in boys with hypospadias

The effect of common genetic variants in CYP19A1 on serum Estradiol to Testosterone Ratio in healthy Danish children and adolescents

SGPL1 deficiency, a cause of 46XY DSD and adrenal insufficiency, impairs lipid metabolism and steroidogenesis in Leydig cells

GnRHa response patterns of testis expressed genes in cryptorchid boys

Aberrant expression of agouti signaling protein (ASIP) as a new cause of monogenic severe childhood obesity

Frequency of MC4R Pathway Variants in a European Cohort of Individuals With Early-Onset Severe Obesity

Impact of growth hormone therapy on body mass index in childhood-onset craniopharyngioma: a multicenter Italian study in 117 patients.

Irs1 expression in peripheral blood associates with obesity and cardiovascular risk parameters in school-age girls

Impact of Setmelanotide on Metabolic Syndrome Risk in Pediatric Patients With POMC and LEPR Deficiency

Liraglutide treatment in adolescents with extreme obesity - Effects on weight loss in the first 9 months under real-life conditions

Reference values for the insulin response to glucose challenge enable the early detection of emerging (pre)diabetes in children and young adults with obesity

Characterization of pediatric patients with type 2 diabetes and trends in their pharmaceutical management 2000-2022 in German-speaking countries: Analysis based on the DPV registry

A novel case of hypoglycaemia secondary to a pro-insulin processing disorder

The high proportion of INS-MODY in Chinese children with MODY

A case of NARS1 deficiency resulting in diabetes mellitus with liver cirrhosis and pancreatic atrophy

Puberty and Gonadal function in Wolfram Syndrome: A retrospective single centre study

Dasiglucagon safety in paediatric participants with CHI

Immune profile response to rituximab in ROHHAD syndrome

ROHHAD syndrome, thrombotic risk and endothelial damage: a single center experience.

A Novel Mutation in RAI1 Gene in a Patient with Clinical Diagnosis of Rapid-Onset Obesity with Hypothalamic Dysregulation, Hypoventilation, and Autonomic Dysregulation (ROHHAD) Syndrome with Overlapping Symptoms of Smith Magenis Syndrome (SMS).

MCM4 deficiency causing Natural Killer and Glucocorticoid Deficiency with DNA repair defect (AR-NKGCD) - a large cases series from the Irish Traveller Community

PLACENTAL MEST GENE EXPRESSION IS ASSOCIATED WITH POSTNATAL GROWTH AND OBESITY

Puberty

DSD and gender incongruence

Oncology and Chronic Disease

Diabetes Type 1

Editors' Choice

Childhood craniopharyngioma - challenges for the pediatric endocrinologist

The role of a nurse in managing and supporting children and their families with a craniopharyngioma - Roisin Boyle

Q&A in Endocrine Nursing

Thyroid

Growth and Growth Factors

Bone, Growth Plate and Mineral Metabolism

A tribute to Ze’ev Hochberg’s work

The genetic aetiology of primary multiple pituitary hormone deficiency: a next-generation sequencing analysis of a single-centre cohort.

Are pappalysins and stanniocalcins involved in modifying the bioavailability of IGF-I in children with onset of type 1 diabetes mellitus?

Longitudinal assessment of health-related quality of life (HRQoL) & behavior in adults born small for gestational age (SGA) who were treated with growth hormone during childhood

Functional analysis of a novel mutation of IGF1R gene in two twins with growth failure. An example of genotype-phenotype heterogeneity.

Influence of sirtuin 1 and fibroblast growth factor 21 levels on IGF-1 concentration in children with short stature of different etiology

Evaluation Of The Growth Hormone-Insulin like Growth Factor1 Axis And Serum Fibroblast Growth Factor 21 Levels As Related To Stature In Children And Adolescents With Coeliac Disease Adherent To Gluten Free Diet

Macro-TSH IgG complex in a case of Congenital Hypothyroidism (CH).

A novel frameshift mutation in Immunoglobulin Superfamily, Member 1 (IGSF1) causing central hypothyroidism, delayed puberty and GH deficiency

Thyroid disorders in childhood cancer survivors treated with 131 I-MIBG, TKIs or immune checkpoint inhibitors: incidence, mechanisms and clinical management – systematic review

Polyethylene glycol thyroid stimulating hormone (PEG-TSH) in real-life: a practical tool for solving a biochemical dilemma

Application of Shear Wave Elastography (SWE) in the ultrasound evaluation of thyroid nodules in children and adolescents

Phenylbutyrate treatment of three patients with Monocarboxylate Transporter 8 deficiency

Are Glucagon-like peptide-1 (GLP-1) receptor agonists a new treatment option for hypothalamic obesity in the paediatric population: Preliminary experience from a tertiary paediatric endocrine centre

Arginine-stimulated copeptin is independent of GH secretion status

Treatment and outcome of the Dutch Childhood Craniopharyngioma Cohort study; first results after centralization of care

Trio analyses of patients with congenital hypopituitarism reveals novel candidate genes

Growth hormone and TSH deficiency after [177Lu]Lu-DOTATATE therapy for pediatric neuroblastoma; description of a first case.

Pituitary size on volumetric MRI predicts the severity of the neuroendocrine phenotype in populations at risk

Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene

No Relationship Between Thyroid Function and ADHD – Results From a Nationwide Prospective Epidemiological Study and Mendelian Randomization

Body composition in a pediatric population with type 1 diabetes mellitus - The importance of planned physical activity

Evaluating the Effect of Recombinant Human Growth Hormone Treatment on Sleep-related Breathing Disorders in Toddlers with Prader–Willi Syndrome: a one-year retrospective cohort study.

Functional demonstration that variants in the C-terminal of IHH cause short stature and/brachdactyly

Enhanced histones acetylation in children with obesity: relationship with insulin resistance and inflammation

GH replacement therapy with once-weekly somapacitan in children with GH deficiency is effective and well-tolerated: 2-year results from REAL4

Clinical characteristics of heterozygous ACAN gene variants and longer-term response to growth hormone treatment: real-world data

Analysis of a large panel of genes in a cohort of patients with severe short stature: detection rate and genotype-phenotype correlations

Long-term GH-treatment of children born small for gestational age (SGA) does not result in cerebrovascular abnormalities in adulthood compared to untreated controls

Effective GH Replacement with Once-weekly Somapacitan in Japanese Children with GH Deficiency: 2-year Results from REAL4

Longitudinal analysis of the risk of brain tumour recurrence or progression in relation to the timing of commencement of growth hormone replacement therapy.

Graves’ disease – are we just delaying the inevitable?

Thyroid function analysis in 48 patients affected by severe combined immunodeficiency caused by adenosine deaminase deficiency

Hypothyroidism due to IYD bi-allelic pathogenic variants: clinical description of eight patients

Thyroid hormone resistance due to THRB gene mutations : neonatal manifestations in two cases

Teprotumumab in an adolescent with severe corticosteroid-resistant Graves ophthalmopathy: success but unexpected neurological manifestations.

TSH screening in premature newborns: a critical appraisal of the value of a second sample.

Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

Targeted gene panel screening in 144 congenital hypopituitarism patients, incorporating 135 known and novel genes implicated in hypopituitarism and/or hypothalamo-pituitary development.

Variants in Methyl-CpG-binding protein 2 (MECP2) are associated with X-Linked Central Precocious Puberty

Clinical and molecular genetic characteristics of 98 patients with congenital hypopituitarism: A single-center experience

Systematic review and meta-analysis of spermatogenesis rates after pubertal induction with gonadotropins in males with hypogonadotropic hypogonadism

Effects of Blue Light Exposure and Exposure Duration on Male Rats Puberty Process