ESPE Yearbook of Paediatric Endocrinology

Contents

• Preface
• • Preface
  • • Preface

      ey0021-P1
• 1. Pituitary and Neuroendocrinology
• • Zehra Yavas Abalı, Carles Gaston-Massuet
  • • Pituitary and Neuroendocrinology

      ey0021.1-0
  • New Mechanisms
  • • SEMA6A drives GnRH neuron-dependent puberty onset by tuning median eminence vascular permeability

      ey0021.1-1
    • Kisspeptin signalling in astrocytes modulates the reproductive axis

      ey0021.1-2
    • Novel candidate regulators and developmental trajectory of pituitary thyrotropes

      ey0021.1-3
    • SOX9-positive pituitary stem cells differ according to their position in the gland and maintenance of their progeny depends on context

      ey0021.1-4
  • Novel Genes
  • • Imprinted Dlk1 dosage as a size determinant of the mammalian pituitary gland

      ey0021.1-5
    • Knockout mice with pituitary malformations help identify human cases of hypopituitarism

      ey0021.1-6
    • Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders

      ey0021.1-7
    • The evolutionary conserved miR-137/325 tandem mediates obesity-induced hypogonadism and metabolic comorbidities by repressing hypothalamic kisspeptin

      ey0021.1-8
    • Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

      ey0021.1-9
  • New Treatments and Hopes
  • • BRAF-MEK Inhibition in newly diagnosed papillary craniopharyngiomas

      ey0021.1-10
    • Central diabetes insipidus (vasopressin deficiency) after surgery for pituitary tumours: A systematic review and meta-analysis

      ey0021.1-11
    • Insights into central congenital hypothyroidism: A multicenter retrospective analysis

      ey0021.1-12
    • Long-term weight gain in children with craniopharyngioma

      ey0021.1-13
• 2. Antenatal and Neonatal Endocrinology
• • Cheri Deal, Muzna Arif
  • • Antenatal and Neonatal Endocrinology

      ey0021.2-0
  • New Therapies
  • • Dasiglucagon for the Treatment of Congenital Hyperinsulinism: A Randomized Phase 3 Trial in Infants and Children

      ey0021.2-1
  • Congenital Hypothyroidism Outcomes
  • • The longitudinal growth trajectory of children with congenital hypothyroidism during the first 3 years of life

      ey0021.2-2
  • Epigenetics
  • • Trophectoderm biopsy of blastocysts following IVF and embryo culture increases epigenetic dysregulation in a mouse model

      ey0021.2-3
    • Imprinting disorders in children conceived with assisted reproductive technology in Sweden

      ey0021.2-4
  • Laboratory Reference Values
  • • Reference values for serum calcium in neonates should be established in a population of vitamin D-replete subjects

      ey0021.2-5
  • Systematic Reviews
  • • Safety of Antenatal Predniso(lo)ne and Dexamethasone on Fetal, Neonatal and Childhood Outcomes: A Systematic Review

      ey0021.2-6
  • Artificial Intelligence
  • • Transforming neonatal care with artificial intelligence: challenges, ethical consideration, and opportunities

      ey0021.2-7
  • Genotype-Phenotype and SRS
  • • Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver– Russell syndrome: case reports and literature review

      ey0021.2-8
  • Important Associations with Growth
  • • The associations between maternal and fetal exposure to endocrine- disrupting chemicals (EDC) and asymmetric fetal growth restriction: a prospective cohort study

      ey0021.2-9
    • Leptin and adiposity measures from birth to later childhood: Findings from the Hyperglycemia and Adverse Pregnancy Outcomes (HAPO) Follow-Up Study

      ey0021.2-10
    • Cord Blood Proteomic Profiles, Birth Weight, and Early Life Growth Trajectories

      ey0021.2-11
  • Newborn Screening for ALD
  • • Early Detection of Adrenal Insufficiency: The Impact of Newborn Screening for Adrenoleukodystrophy

      ey0021.2-12
• 3. Thyroid
• • Paul van Trotsenburg, Elham Atiq
  • • Thyroid

      ey0021.3-0
  • Mechanism of the Year
  • • Notch signaling in thyrocytes is essential for adult thyroid function and mammalian homeostasis

      ey0021.3-1
  • Hypothalamus-Pituitary-Axis Regulation
  • • Regulation of thyroid hormone levels by hypothalamic thyrotropin-releasing hormone neurons

      ey0021.3-2
    • TSH pulses finely tune thyroid hormone release and TSH receptor transduction

      ey0021.3-3
  • Thyroid Function - Genetic Determinants and Associations with Health and (Thyroid) Disease
  • • Genome-wide association study of thyroid-stimulating hormone highlights new genes, pathways and associations with thyroid disease

      ey0021.3-4
    • Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications

      ey0021.3-5
    • Genetic determinants of thyroid function in children

      ey0021.3-6
    • The optimal healthy ranges of thyroid function defined by the risk of cardiovascular disease and mortality: systematic review and individual participant data meta-analysis

      ey0021.3-7
  • Congenital Hypothyroidism
  • • Functional variants in a TTTG microsatellite on 15q26.1 cause familial nonautoimmune thyroid abnormalities

      ey0021.3-8
    • STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

      ey0021.3-9
  • Defects in Thyroid Hormone Transport, Metabolism and Action
  • • Resistance to thyroid hormone induced tachycardia in RTHα syndrome

      ey0021.3-10
    • Identification of human TRIAC transmembrane transporters

      ey0021.3-11
  • Thyroid Autoimmunity
  • • The genetics of Graves’ disease

      ey0021.3-12
    • Epigenome-wide association study shows differential DNA methylation of MDC1, KLF9, and CUTA in autoimmune thyroid disease

      ey0021.3-13
  • Thyroid Cancer
  • • Polygenic risk scores, radiation treatment exposures and subsequent cancer risk in childhood cancer survivors

      ey0021.3-14
  • Thyroid Tissue Regeneration
  • • Progress toward and challenges remaining for thyroid tissue regeneration

      ey0021.3-15
  • Thyroid Imaging
  • • A fully autonomous robotic ultrasound system for thyroid scanning

      ey0021.3-16
• 4. Growth and Growth Factors
• • Valentina Pampanini, Annalisa Deodati, Maria Elisa Amodeo, Elena Inzaghi, Patricia-Maria Anton, Stefano Cianfarani
  • • Growth and Growth Factors

      ey0021.4-0
  • Important for Clinical Practice
  • • Accuracy of glucagon testing across transition in young adults with childhood-onset growth hormone deficiency

      ey0021.4-1
    • The impact of prenatal alcohol exposure on longitudinal growth, nutritional status, and insulin-like growth factor 1 in early childhood in Leyte, the Philippines

      ey0021.4-2
    • A clinical trial of high dose growth hormone in a patient with a dominant negative growth hormone receptor mutation

      ey0021.4-3
    • Recombinant human insulin-like growth factor-1 treatment of severe growth failure in three siblings with STAT5B deficiency

      ey0021.4-4
    • Cerebrovascular abnormalities in adults born SGA at 12 years after growth hormone cessation compared to controls

      ey0021.4-5
    • Clinical characteristics of pathogenic ACAN variants and 3-year response to growth hormone treatment: real-world data

      ey0021.4-6
  • New Paradigms
  • • IGF-1 acts through Kiss1-expressing cells to influence metabolism and reproduction

      ey0021.4-7
    • Verapamil prevents decline of IGF-I in subjects with type 1 diabetes and promotes β-cell IGF-I signaling

      ey0021.4-8
  • New Mechanisms
  • • Reduction in pappalysin-2 levels and lower IGF-I bioavailability in female adolescents with anorexia nervosa

      ey0021.4-9
    • WIP1 is a novel specific target for growth hormone action

      ey0021.4-10
    • Lower muscle protein synthesis in humans with obesity concurrent with lower expression of muscle IGF1 splice variants

      ey0021.4-11
    • Metabolic surgery-induced changes of the growth hormone system relate to improved adipose tissue function

      ey0021.4-12
  • New Perspectives
  • • Saturation genome editing of BAP1 functionally classifies somatic and germline variants

      ey0021.4-13
    • Evaluation of the MC3R gene pertaining to body weight and height regulation and puberty development

      ey0021.4-14
• 5. Bone, Growth Plate and Mineral Metabolism
• • Thomas Edouard, Anju Jacob
  • • Bone, Growth Plate and Mineral Metabolism

      ey0021.5-0
  • Advances in Clinical Practice
  • • Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

      ey0021.5-1
    • Clinical profiles of children with hypophosphatasia prior to treatment with enzyme replacement therapy: an observational analysis from the global HPP registry

      ey0021.5-2
    • The Global ALPL gene variant classification project: dedicated to deciphering variants

      ey0021.5-3
    • Serum phosphorus as a driver of skeletal morbidity in fibrous dysplasia

      ey0021.5-4
    • The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers

      ey0021.5-5
    • A practical guide to the diagnosis and management of osteoporosis in childhood and adolescence

      ey0021.5-6
  • Novel Treatments
  • • Burosumab vs conventional therapy in children with x-linked hypophosphatemia: results of the open-label, phase 3 extension period

      ey0021.5-7
    • Management of RANKL-mediated disorders with denosumab in children and adolescents: a global expert guidance document

      ey0021.5-8
    • Safety and efficacy of denosumab in children with osteogenesis imperfecta-the first prospective comparative study

      ey0021.5-9
    • Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial

      ey0021.5-10
    • Vosoritide treatment for children with hypochondroplasia: a phase 2 trial

      ey0021.5-11
    • Once-weekly transCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-Blind, placebo-controlled, dose-escalation trial

      ey0021.5-12
    • Low-dose infigratinib increases bone growth and corrects growth plate abnormalities in an achondroplasia mouse model

      ey0021.5-13
  • Advances in Growth, Bone Biology and Mineral Metabolism
  • • Modeling human skeletal development using human pluripotent stem cells

      ey0021.5-14
    • Osteocyte mitochondria regulate angiogenesis of transcortical vessels

      ey0021.5-15
• 6. Differences of Sexual Development (DSD) and Gender Incongruence (GI)
• • Tulay Guran, Sabine E Hannema, Busra Gurpinar Tosun
  • • Differences of Sexual Development (DSD) and Gender Incongruence (GI)

      ey0021.6-0
  • DSD - Novel Genes and Mechanisms involved in Gonadal Development
  • • The -KTS splice variant of WT1 is essential for ovarian determination in mice

      ey0021.6-1
    • Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

      ey0021.6-2
    • Complete male-to-female sex reversal in XY mice lacking the miR-17^~92 cluster

      ey0021.6-3
    • Microdeletion at ESR1 intron 6 (DEL_6_75504) is a susceptibility factor for cryptorchidism and hypospadias

      ey0021.6-4
  • Clinical and Molecular Insights into SF1 Deficiency
  • • Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1 /SF-1 variants of sex development

      ey0021.6-5
    • A conserved NR5A1-responsive enhancer regulates SRY in testis-determination

      ey0021.6-6
    • Long-read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development

      ey0021.6-7
  • New Clinical Insights into Klinefelter Syndrome
  • • Testicular dysfunction in 47,XXY boys: when it all begins. a semilongitudinal study

      ey0021.6-8
    • Executive dysfunction in Klinefelter syndrome: associations with brain activation and testicular failure

      ey0021.6-9
    • Detection of chromosomal aneuploidy in ancient genomes

      ey0021.6-10
  • Gender Incongruence - Psychological Benefits of Puberty Suppression
  • • Association of pubertal blockade at Tanner 2/3 with psychosocial benefits in transgender and gender diverse youth at hormone readiness assessment

      ey0021.6-11
  • Gender Incongruence - Hormone Treatment Continuation
  • • Reidentification with birth-registered sex in a Western Australian pediatric gender clinic cohort

      ey0021.6-12
  • Impact of Masculinizing Hormone Treatment on Fertility
  • • One-third of amenorrheic transmasculine people on testosterone ovulate

      ey0021.6-13
  • Bone Health after Puberty Suppression and Gender Affirming Hormone Treatment
  • • Bone mineral density in transgender adolescents treated with puberty suppression and subsequent gender-affirming hormones

      ey0021.6-14
  • Cardiovascular Outcomes in Transgender People
  • • Cardiovascular disease in transgender people: a systematic review and meta-analysis

      ey0021.6-15
• 7. Puberty
• • Julie Fudvoye, Caroline Gernay, Anne-Simone Parent
  • • Puberty

      ey0021.7-0
  • Clinical Guidance and Studies
  • • Girls with idiopathic central precocious puberty did not display substantial changes in body mass index after treatment with gonadotropin-releasing hormone analogues

      ey0021.7-1
    • Differentiation of idiopathic central precocious puberty from premature thelarche using principal component analysis

      ey0021.7-2
    • Sex-independent timing of the onset of central puberty revealed by nocturnal luteinizing hormone concentrations

      ey0021.7-3
    • Unstimulated luteinizing hormone for assessment of suppression during treatment of central precocious puberty with 6-month subcutaneous leuprolide acetate: correlations with clinical response

      ey0021.7-4
    • Rare variants in the MECP2 gene in girls with central precocious puberty: a translational cohort study

      ey0021.7-5
    • Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels

      ey0021.7-6
    • Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism

      ey0021.7-7
    • Prevalence of deleterious variants in MC3R in patients with constitutional delay of growth and puberty

      ey0021.7-8
  • Basic Research
  • • Understanding the genetic complexity of puberty timing across the allele frequency spectrum

      ey0021.7-9
    • Changes in the bile acid pool and timing of female puberty: potential novel role of hypothalamic TGR5

      ey0021.7-10
    • Glutamate neurotransmission from leptin receptor cells is required for typical puberty and reproductive function in female mice

      ey0021.7-11
    • Stress during pubertal development affects female sociosexual behavior in mice

      ey0021.7-12
    • Metabolic control of puberty: 60 years in the footsteps of Kennedy and Mitra’s seminal work

      ey0021.7-13
• 8. Adrenals
• • Svetlana Lajic, George Paltoglou, Leif Karlsson, Chamila Balagamage, Evangelia Charmandari
  • • Adrenals

      ey0021.8-0
  • Mechanism of the Year
  • • Fatty acid desaturase 2 determines the lipidomic landscape and steroidogenic function of the adrenal gland

      ey0021.8-1
  • Other New Mechanisms
  • • Mitochondrial cytochrome P450 1B1 is involved in pregnenolone synthesis in human brain cells

      ey0021.8-2
  • Important for Clinical Practice
  • • European Society of Endocrinology and Endocrine Society Joint Clinical Guideline: Diagnosis and Therapy of Glucocorticoid-induced Adrenal Insufficiency

      ey0021.8-3
    • Incidence and risk factors for adrenal crisis in pediatric-onset adrenal insufficiency: a prospective study

      ey0021.8-4
    • High-resolution daily profiles of tissue adrenal steroids by portable automated collection

      ey0021.8-5
    • Glucose. pattern in children with classical congenital adrenal hyperplasia: evidence from continuous glucose monitoring

      ey0021.8-6
    • Parental concerns about genital differences in children with congenital adrenal hyperplasia persist regardless of the selected intervention

      ey0021.8-7
    • Paediatric Cushing syndrome: a prospective, multisite, observational cohort study

      ey0021.8-8
    • Consensus statement by the French Society of Endocrinology (SFE) and French Society of Pediatric Endocrinology & Diabetology (SFEDP) for the diagnosis of Cushing’s syndrome: Genetics of Cushing’s syndrome

      ey0021.8-9
    • Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert consensus statement

      ey0021.8-10
  • Clinical Trials – New Treatments
  • • Phase 3 Trial of Crinecerfont in Pediatric Congenital Adrenal Hyperplasia

      ey0021.8-11
    • Ultradian hydrocortisone replacement alters neuronal processing, emotional ambiguity, affect and fatigue in adrenal insufficiency: the PULSES trial

      ey0021.8-12
  • New Hope
  • • The role of interferon-γ in autoimmune polyendocrine syndrome Type 1

      ey0021.8-13
    • Circulating non-coding RNA biomarkers of endocrine tumours

      ey0021.8-14
    • Metastatic pheochromocytoma and paraganglioma: somatostatin receptor 2 expression, genetics, and therapeutic responses

      ey0021.8-15
  • New Genes
  • • Single-exon deletions of ZNRF3 exon 2 cause congenital adrenal hypoplasia

      ey0021.8-16
  • New Paradigms
  • • Increased resting-state functional connectivity in patients with autoimmune addison disease

      ey0021.8-17
  • Reviews
  • • The association of accelerated early growth, timing of puberty, and metabolic consequences in children

      ey0021.8-18
  • Food for Thought
  • • Prenatal androgen exposure and sex-typical play behaviour: a meta-analysis of classic congenital adrenal hyperplasia studies

      ey0021.8-19
• 9. Oncology and Chronic Disease
• • Carla Bizzarri, Sara Ciccone, Stefania Pedicelli
  • • Oncology and Chronic Disease

      ey0021.9-0
  • Fertility Issues
  • • Premature ovarian insufficiency and chance of pregnancy after childhood cancer: a population-based study (the Fex-Can study)

      ey0021.9-1
    • Effects of radiation therapy on the female reproductive tract in childhood cancer survivors: a PENTEC comprehensive review

      ey0021.9-2
    • Therapeutic exposures and pubertal testicular dysfunction are associated with adulthood milestones and paternity after childhood cancer

      ey0021.9-3
    • Evaluating testicular tissue for future autotransplantation: focus on cancer cell contamination and presence of spermatogonia in tissue cryobanked for boys diagnosed with a hematological malignancy

      ey0021.9-4
    • Fertility potential and gonadal function in survivors of reduced-intensity hematopoietic stem cell transplantation

      ey0021.9-5
    • Reproductive outcomes and reproductive health care utilization among male survivors of childhood cancer: a DCCSS-LATER study

      ey0021.9-6
    • Reproductive ability in survivors of childhood, adolescent, and young adult Hodgkin lymphoma: a review

      ey0021.9-7
    • Perceived and objective fertility risk among female survivors of adolescent and young adult cancer

      ey0021.9-8
    • Risk of adverse birth outcomes after adolescent and young adult cancer

      ey0021.9-9
  • Thyroid Issues in Cancer Survivors
  • • Primary hypothyroidism in childhood cancer survivors treated with radiation therapy: a PENTEC comprehensive review

      ey0021.9-10
    • Thyroid ultrasound screening in childhood cancer survivors following radiotherapy

      ey0021.9-11
    • Risk of second primary thyroid cancer in cancer survivors

      ey0021.9-12
  • Growth Problems in Cancer Survivors
  • • GH and childhood-onset craniopharyngioma: when to initiate GH replacement therapy?

      ey0021.9-13
    • Exploring height outcomes with adjuvant aromatase inhibition in growth hormone-deficient male survivors of childhood cancer

      ey0021.9-14
    • Association between conditioning intensity and height growth after allogeneic hematopoietic stem cell transplantation in children

      ey0021.9-15
  • Bone Health and Chronic Diseases
  • • Vertebral body reshaping after fractures: an important index of recovery in glucocorticoid-treated children

      ey0021.9-16
    • Fracture risk among children and adolescents with celiac disease: a nationwide cohort study

      ey0021.9-17
• 10. Type 1 Diabetes
• • M. Loredana Marcovecchio, Marie-Anne Burckhardt
  • • Type 1 Diabetes

      ey0021.10-0
  • Clinical Trials – New Treatments
  • • Baricitinib and beta-cell function in patients with new-onset type 1 diabetes

      ey0021.10-1
    • Teplizumab and beta-cell function in newly diagnosed type 1 diabetes

      ey0021.10-2
    • Pleconaril and ribavirin in new-onset type 1 diabetes: a phase 2 randomized trial

      ey0021.10-3
  • Important for Clinical Practice
  • • Demographic, clinical, management, and outcome characteristics of 8,004 young children with type 1 diabetes

      ey0021.10-4
    • Equitable implementation of a precision digital health program for glucose management in individuals with newly diagnosed type 1 diabetes

      ey0021.10-5
  • Clinical Guidance
  • • Consensus guidance for monitoring individuals with islet autoantibody-positive pre-stage 3 type 1 diabetes

      ey0021.10-6
  • New Paradigms
  • • Heterogeneity and endotypes in type 1 diabetes mellitus

      ey0021.10-7
  • New Genetic Insights
  • • Familial aggregation and heritability of childhood-onset and adult-onset type 1 diabetes: a Swedish register-based cohort study

      ey0021.10-8
  • New Mechanisms
  • • Distinct cellular immune responses in children en route to type 1 diabetes with different first-appearing autoantibodies

      ey0021.10-9
  • New Insights
  • • SARS-CoV-2 infection and development of islet autoimmunity in early childhood

      ey0021.10-10
    • Childhood-onset type 1 diabetes and subsequent adult psychiatric disorders: a nationwide cohort and genome-wide Mendelian randomization study

      ey0021.10-11
  • New Biomarkers
  • • A set of circulating microRNAs belonging to the 14q32 chromosome locus identifies two subgroups of individuals with recent-onset type 1 diabetes

      ey0021.10-12
    • Paracrine signalling by pancreatic delta cells determines the glycaemic set point in mice

      ey0021.10-13
    • RANKL/RANK is required for cytokine-induced beta cell death; osteoprotegerin, a RANKL inhibitor, reverses rodent type 1 diabetes

      ey0021.10-14
    • Stress-induced beta cell early senescence confers protection against type 1 diabetes

      ey0021.10-15
  • New Hopes
  • • Non-invasive measurements of blood glucose levels by time-gating mid-infrared optoacoustic signals

      ey0021.10-16
    • Non-invasive quantification of stem cell-derived islet graft size and composition

      ey0021.10-17
• 11. Obesity and Weight Regulation
• • Martin Wabitsch, Stephanie Brandt-Heunemann, Stefanie Zorn, Christian Denzer, Melanie Schirmer, Nicole Prinz, Joanna Lerner, Eleni Giannopoulou, Daniel Tews
  • • Obesity and Weight Regulation

      ey0021.11-0
  • Interventions for Weight Loss: New Findings
  • • Height and growth velocity in children and adolescents undergoing obesity treatment: a prospective cohort study

      ey0021.11-1
    • Mutations in the leptin-melanocortin pathway and weight loss after bariatric surgery: a systematic review and meta-analysis

      ey0021.11-2
    • Who benefits most from outpatient lifestyle intervention? an IMI-SOPHIA study on pediatric individuals living with overweight and obesity

      ey0021.11-3
    • Setmelanotide for the treatment of acquired hypothalamic obesity: a phase 2, open-label, multicentre trial

      ey0021.11-4
    • Tirzepatide modulates the regulation of adipocyte nutrient metabolism through long-acting activation of the GIP receptor

      ey0021.11-5
  • History, Language and Numbers
  • • Obesity: a 100 year perspective

      ey0021.11-6
    • Providing a common language for obesity: the European Association for the Study of Obesity obesity taxonomy

      ey0021.11-7
    • Worldwide trends in underweight and obesity from 1990 to 2022: a pooled analysis of 3663 population-representative studies with 222 million children, adolescents, and adults

      ey0021.11-8
  • Genetic Risk Score and New Genes
  • • Elucidating pathways to pediatric obesity: a study evaluating obesity polygenic risk scores related to appetitive traits in children

      ey0021.11-9
    • Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

      ey0021.11-10
  • Brain Development and Brain Function
  • • Neurodevelopmental programming of adiposity: contributions to obesity risk

      ey0021.11-11
    • Age-related ciliopathy: obesogenic shortening of melanocortin-4 receptor-bearing neuronal primary cilia

      ey0021.11-12
    • The insulin resistant brain: impact on whole-body metabolism and body fat distribution

      ey0021.11-13
  • Adipocyte Dysfunction and Obesity Related Comorbidities
  • • Obesity causes mitochondrial fragmentation and dysfunction in white adipocytes due to RalA activation

      ey0021.11-14
    • A spatiotemporal proteomic map of human adipogenesis

      ey0021.11-15
    • The role of adipogenic capacity and dysfunctional subcutaneous adipose tissue in the inheritance of type 2 diabetes mellitus: cross-sectional study

      ey0021.11-16
    • At any level of adiposity, relatively elevated leptin concentrations are associated with decreased insulin sensitivity

      ey0021.11-17
• 12. Type 2 Diabetes, Metabolic Syndrome and Lipids
• • Orit Pinhas-Hamiel
  • • Type 2 Diabetes, Metabolic Syndrome and Lipids

      ey0021.12-0
  • Concerns in T2D
  • • Major adverse events in youth-onset type 1 and type 2 diabetes: the SEARCH and TODAY studies

      ey0021.12-1
    • Trajectories of eGFR and risk of albuminuria in youth with type 2 diabetes: results from the TODAY cohort study

      ey0021.12-2
    • Age at type 2 diabetes diagnosis and cause-specific mortality: observational study of primary care patients in England

      ey0021.12-3
  • Improving T2D Outcomes
  • • Continuous glucose monitoring versus standard of care in adolescents with type 2 diabetes: a pilot randomized cross-over trial

      ey0021.12-4
    • The efficacy and safety of GLP-1 receptor agonists in youth with type 2 diabetes: a meta-analysis

      ey0021.12-5
    • Tirzepatide once weekly for the treatment of obesity in people with type 2 diabetes (SURMOUNT-2): a double-blind, randomised, multicentre, placebo-controlled, phase 3 trial

      ey0021.12-6
  • Genetics of T2D in Children and Adolescents
  • • Genetic architecture and biology of youth-onset type 2 diabetes

      ey0021.12-7
  • Pregnancy and Youth Onset T2D
  • • Impact of youth onset type 2 diabetes during pregnancy on microvascular and cardiac outcomes

      ey0021.12-8
    • DNA methylation signatures of youth-onset type 2 diabetes and exposure to maternal diabetes

      ey0021.12-9
  • Metabolic Syndrome
  • • A proposed simplified definition of metabolic syndrome in children and adolescents: a global perspective

      ey0021.12-10
    • Artemisinins ameliorate polycystic ovarian syndrome by mediating LONP1-CYP11A1 interaction

      ey0021.12-11
    • Association of metabolic syndrome with neuroimaging and cognitive outcomes in the UK Biobank

      ey0021.12-12
  • Lipid Metabolism
  • • Influence of oral contraceptives on lipid profile and trajectories in healthy adolescents-data from the EVA-tyrol study

      ey0021.12-13
    • Alirocumab in pediatric patients with heterozygous familial hypercholesterolemia: a randomized clinical trial

      ey0021.12-14
    • Cardiovascular outcomes in patients with homozygous familial hypercholesterolaemia on lipoprotein apheresis initiated during childhood: long-term follow-up of an international cohort from two registries

      ey0021.12-15
    • Evinacumab for pediatric patients with homozygous familial hypercholesterolemia

      ey0021.12-16
    • Association of health benefits and harms of Christmas dessert ingredients in recipes from The Great British Bake Off: umbrella review of umbrella reviews of meta-analyses of observational studies

      ey0021.12-17
• 13. Global Health for the Paediatric Endocrinologist
• • Diane Stafford, Emrullah Arslan
  • • Global Health for the Paediatric Endocrinologist

      ey0021.13-0
  • Diabetes and Diabetes Technology
  • • Feasibility of continuous glucose monitoring in patients with type 1 diabetes at two district hospitals in Neno, Malawi: a randomised controlled trial

      ey0021.13-1
    • Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the global burden of disease study 2021

      ey0021.13-2
    • Celebrating the data from 100,000 real-world users of the MiniMed™ 780G system in Europe, Middle East, and Africa collected over 3 years: from data to clinical evidence

      ey0021.13-3
    • Diabetes care and outcomes of pediatric refugees and migrants from Ukraine and Syria/Afghanistan with type 1 diabetes in German-speaking countries

      ey0021.13-4
    • Patient-led innovation and global health justice: Open-source digital health technology for type 1 diabetes care

      ey0021.13-5
  • Endocrinology
  • • Identification of southern Taiwan genetic variants in thyroid dyshormonogenesis through whole-exome sequencing

      ey0021.13-6
    • Vitamin D supplements for fracture prevention in schoolchildren in Mongolia: analysis of secondary outcomes from a multicentre, double-blind, randomised, placebo-controlled trial

      ey0021.13-7
    • Experiences and challenges with congenital hypothyroidism newborn screening in Indonesia: a national cross-sectional survey

      ey0021.13-8
    • 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort

      ey0021.13-9
    • Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets

      ey0021.13-10
    • GRADE-ADOLOPMENT of hyperthyroidism treatment guidelines for a Pakistani context

      ey0021.13-11
    • High frequency of transient congenital hypothyroidism among infants referred for suspected congenital hypothyroidism from the Turkish National screening program: thyroxine dose may guide the prediction of transients

      ey0021.13-12
  • Identifying Health Disparities and Improving Access to Healthcare
  • • Refocusing the World Health Organization’s model list of essential medicines on the needs of low and middle income countries

      ey0021.13-13
    • Physical late effects of treatment among survivors of childhood cancer in low- and middle-income countries: a systematic review

      ey0021.13-14
    • The I-CAH registry: a platform for international collaboration for improving knowledge and clinical care in congenital adrenal hyperplasia

      ey0021.13-15
    • International newborn screening practices for the early detection of congenital adrenal hyperplasia

      ey0021.13-16
    • Global health disparities in childhood rickets

      ey0021.13-17
    • Changing trends in the global, regional, and national burden of iodine deficiency among adolescents and young adults: population-based study

      ey0021.13-18
• 14. The Year in Science and Medicine
• • Christa E Flück, Simge Eren, Ken Ong
  • • The Year in Science and Medicine

      ey0021.14-0
  • Basic Biology and Molecular Mechanisms
  • • The maintenance of oocytes in the mammalian ovary involves extreme protein longevity

      ey0021.14-1
    • Human fertilization in vivo and in vitro requires the CatSper channel to initiate sperm hyperactivation

      ey0021.14-2
    • The RNA secondary structure of androgen receptor-FL and V7 transcripts reveals novel regulatory region

      ey0021.14-3
    • Fetal manipulation of maternal metabolism is a critical function of the imprinted Igf2 gene

      ey0021.14-4
    • Deep learning models reveal replicable, generalizable, and behaviorally relevant sex differences in human functional brain organization

      ey0021.14-5
  • Epi-/Genetics
  • • Long-read whole-genome analysis of human single cells

      ey0021.14-6
    • Epigenetic inheritance of diet-induced and sperm-borne mitochondrial RNAs

      ey0021.14-7
    • Histone H2A Lys130 acetylation epigenetically regulates androgen production in prostate cancer

      ey0021.14-8
  • Steroid Hormones from Basics to Clinic
  • • Sex differences orchestrated by androgens at single-cell resolution

      ey0021.14-9
  • Risk and Outcome
  • • Maternal obesity impacts fetal liver androgen signalling in a sex-specific manner

      ey0021.14-10
    • Gut bacteria convert glucocorticoids into progestins in the presence of hydrogen gas

      ey0021.14-11
    • Discriminatory value of steroid hormones on polycystic ovary syndrome and clustering of hyperandrogenism and metabolic factors

      ey0021.14-12
    • Influence of state-of-the-art laboratory techniques on the phenotyping of women with polycystic ovary syndrome in the clinical setting

      ey0021.14-13
    • Metabolic rewiring promotes anti-inflammatory effects of glucocorticoids

      ey0021.14-14
  • Bone
  • • Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

      ey0021.14-15
    • New horizons: translational aspects of osteomorphs

      ey0021.14-16
  • YES contributions by Dr. Simge Eren (14.17 and 14.18)
  • • A maternal brain hormone that builds bone

      ey0021.14-17
    • EPAC1 enhances brown fat growth and beige adipogenesis

      ey0021.14-18
• 15. Editors’ Choice
• • Ken K Ong and Christa E Flück
  • • Editors’ Choice

      ey0021.15-0
  • New Treatments
  • • Semaglutide in early type 1 diabetes

      ey0021.15-1
    • A phase 3, randomized, controlled trial of resmetirom in NASH with liver fibrosis

      ey0021.15-2
    • Triple-hormone-receptor agonist retatrutide for obesity – a phase 2 trial

      ey0021.15-3
    • Anti-insulin receptor antibody for malignant insulinoma and refractory hypoglycemia

      ey0021.15-4
  • New Concerns
  • • Iatrogenic Alzheimer’s disease in recipients of cadaveric pituitary-derived growth hormone

      ey0021.15-5
    • Consumption of 100% fruit juice and body weight in children and adults: a systematic review and meta-analysis

      ey0021.15-6
    • Excess mortality in england post COVID-19 pandemic: implications for secondary prevention

      ey0021.15-7
    • Causes and consequences of child growth faltering in low-resource settings

      ey0021.15-8
  • Artificial Intelligence
  • • Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

      ey0021.15-9
    • A foundation model for generalizable disease detection from retinal images

      ey0021.15-10
    • Google AI has better bedside manner than human doctors – and makes better diagnoses

      ey0021.15-11
    • Accurate proteome-wide missense variant effect prediction with AlphaMissense

      ey0021.15-12
  • New Paradigms
  • • Safety of low weight gain or weight loss in pregnancies with class 1, 2, and 3 obesity: a population-based cohort study

      ey0021.15-13
    • Continuous glucose monitoring and intrapersonal variability in fasting glucose

      ey0021.15-14
    • Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

      ey0021.15-15
    • Causality-enriched epigenetic age uncouples damage and adaptation

      ey0021.15-16