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Volume 96
|
IMPE2023
IMPE 2023
Buenos Aires,
Argentina
04 Mar 2023 - 07 Mar 2023
All volumes
0096 IMPE2023
11th International Meeting of Pediatric Endocrinology (IMPE 2023). 4 -7 March 2023 - Buenos Aires, Argentina.
Summary
Abstracts
Programme
Contents
ICPE Plenary Lectures
Paediatric endocrinology training in Sub-Saharan Africa – A 10 year journey from bench to the clinics
Abstract unavailable
impe0096pl1
Access to medicines
It’s not "all too hard"! Together we CAN improve access to essential paediatric endocrine medicines for all. A roadmap to 2030.
impe0096pl2
Prevention of T1D: How close are we?
Abstract unavailable
impe0096pl3
Genetics of extreme short stature
Abstract unavailable
impe0096pl4
The gut microbiome and novel approaches to childhood obesity
Is microbiome treatment for obesity and metabolic syndrome a possibility?
impe0096pl5
Gene therapy for pediatric diseases
Abstract unavailable
impe0096pl6
Advances in management of congenital bone disorders
Abstract unavailable
impe0096pl7
Neuroendocrine effects of environment disrupting chemicals
Abstract unavailable
impe0096pl8
Advances in diagnosis and management of monogenic diabetes
Abstract unavailable
impe0096pl9
Glial regulation of energy metabolism: diet-induced metabolic inflammation shapes feeding circuitry during development
Abstract unavailable
impe0096pl10
Genomic imprinting and its clinical relevance
Genomic imprinting and its clinical relevance: lesson from Kagami-Ogata syndrome and Temple syndrome
impe0096pl11
Genomics and beyond: Protein sequence structure and functional relationships underlying human disease
Abstract unavailable
impe0096pl12
Symposia
Management of T1D in Youth: Present and Future
Abstract unavailable
impe0096s1.1
Macronutrient management in Type 1 Diabetes in Youth
impe0096s1.2
Abstract unavailable
impe0096s1.3
Current Status of Complications in T1D in Youth
Update on retinopathy - should we screen or not?
impe0096s2.1
Abstract unavailable
impe0096s2.2
Abstract unavailable
impe0096s2.3
Obesity and Type 2 Diabetes in Youth: Update and controversies
Abstract unavailable
impe0096s3.1
Abstract unavailable
impe0096s3.2
Abstract unavailable
impe0096s3.3
Novel concepts in Disorders/Differences of Sexual Development
Abstract unavailable
impe0096s4.1
Abstract unavailable
impe0096s4.2
Clinical approach to DSD: individualised multidisciplinary care
impe0096s4.3
Role of IGFs in physiology and disease
Growth Hormone Action in Growth and Aging
impe0096s5.1
PAPP-A2 in physiology and disease
impe0096s5.2
Clinical and genetic evaluation of children with syndromic short stature
impe0096s5.3
Novel concepts in pediatric male and female gonadal dysfunction
Abstract unavailable
impe0096s6.1
Abstract unavailable
impe0096s6.2
Abstract unavailable
impe0096s6.3
Aromatase activity
Abstract unavailable
impe0096s7.1
Abstract unavailable
impe0096s7.2
Abstract unavailable
impe0096s7.3
New aspects in thyroid cancer
Abstract unavailable
impe0096s8.1
Lessons from Fukushima: Current situation of thyroid cancer among children and adolescents after the Fukushima Daiichi Nuclear Power Plant accident
impe0096s8.2
Abstract Unavailable
impe0096s8.3
Advances in Congenital Adrenal Dysfunction
Optimizing hormonal treatment in children and adolescents with congenital adrenal hyperplasia due to 21 hydroxylase deficiency
impe0096s9.1
New perspectives for neonatal screening for congenital adrenal hyperplasia
impe0096s9.2
Novel genes leading to congenital hypoadrenalism
impe0096s9.3
Hypothalamo-pituitary disease and development
Molecular Mechanisms of Congenital Hypopituitarism
impe0096s10.1
Abstract unavailable
impe0096s10.2
Abstract Unavailable
impe0096s10.3
Novel Bone Therapeutics
Abstract unavailable
impe0096s11.1
Abstract unavailable
impe0096s11.2
Abstract Unavailable
impe0096s11.3
Hypoglycaemia
Abstract unavailable
impe0096s12.1
Abstract unavailable
impe0096s12.2
Abstract Unavailable
impe0096s12.3
DOHaD: basics and beyond
Epigenetics and DOHaD: from basics to birth and beyond
impe0096s13.1
Abstract unavailable
impe0096s13.2
Abstract Unavailable
impe0096s13.3
Optimal, minimal and alternative actions for the diagnosis and treatment of endocrine problems in children in countries with limited resources
100 Years after the Discovery of Insulin: Why the Urgent Need to Address Access to Insulin in Low- and Middle-Income Countries?
impe0096s14.1
Allgrove Syndrome: Phenotype-Genotype correlation in patients from a resource-limited country
impe0096s14.2
Abstract Unavailable
impe0096s14.3
Newborn Screening
Abstract unavailable
impe0096s15.1
Abstract unavailable
impe0096s15.2
Abstract Unavailable
impe0096s15.3
Meet the Expert
Clinical Approach to Sodium Homeostasis Disorders in Children with Pituitary-Suprasellar Tumors
Abstract unavailable
impe0096mte1
Management of the child/adolescent with an adrenal mass
Abstract unavailable
impe0096mte2
Diagnosis and Management of Rare Hypophosphataemic Rickets
Diagnosis and Management of Rare Hypophosphataemic Rickets
impe0096mte3
Diagnosis and management of congenital hypothyroidism under different socioeconomic contexts
Abstract unavailable
impe0096mte4
Management of Delayed Puberty
Abstract unavailable
impe0096mte5
Management of endocrine complications of adolescents with functional hypothalamic amenorrhea
Abstract unavailable
impe0096mte6
Management of Graves disease in children
Abstract unavailable
impe0096mte7
Fertility after childhood cancer (assessment, management and associated risks)
Fertility after childhood cancer
impe0096mte8
Management of growth disorders in non-GHD
Management of Growth Disorders in Non-GHD: Skeletal Dysplasia and Metabolic Bone Disease
impe0096mte9
Management of DKA in low income countries
Abstract unavailable
impe0096mte10
How Do I…
How Do I? 1 – Transition
Abstract unavailable
impe0096hdi1.1
Macronutrient management in Type 1 Diabetes in Youth
impe0096hdi1.2
How Do I ? Transition of Hypopituitarism/ GHD
impe0096hdi1.3
How Do I? 2 – Transgender
Abstract unavailable
impe0096hdi2.1
Abstract unavailable
impe0096hdi2.2
Abstract unavailable
impe0096hdi2.3
Controversies
T2D treatment – should we wait for approved medication?
Clinicians should muster the courage to use off-label medications when treating young patients with type 2 diabetes.
impe0096con1.1
Controversies 1T2D treatment - should we wait for approved medication? For
impe0096con1.2
Cerebral salt wasting: Does it exist?
Abstract unavailable
impe0096con2.1
Abstract unavailable
impe0096con2.2
New Perspectives
New perspectives in endocrine syndromes
Abstract unavailable
impe0096np1.1
Genotype-based management for Noonan syndrome
impe0096np1.2
Mitochondrial diseases: do pediatric endocrinologists fail to recognize this condition?
Genetics of mitochondrial diseases: when the nucleus talks to the mitochondrion
impe0096np2.1
Genetics of mitochondrial diseases: when the nucleus talks to the mitochondrion
impe0096np2.2
Gut hormones in childhood and adolescent obesity
Abstract unavailable
impe0096np3.1
Abstract unavailable
impe0096np3.2
Expert Panel
Expert Panel 1
Abstract unavailable
impe0096ex1.1
Abstract unavailable
impe0096ex1.2
Abstract unavailable
impe0096ex1.3
Free Communications
GH and IGFs 1
Treatment with recombinant murine Pappa2, GH or IGF-1 modifies hepatic energy metabolism in a mouse model of Pappa2 deficiency
impe0096fc1.1
Dose-dependent Increase in GH AUC
0-12h
with LUM-201 in Idiopathic Pediatric GH Deficiency (iPGHD) from the Interim Analysis Data of the OraGrowtH212 Trial
impe0096fc1.2
Age-Dependent and Sex-Specific Changes of DNA Methylation within Growth Hormone Receptor (GHR), Insulin-Like Growth Factor Type 1 Receptor (IGF1R) and Insulin Receptor (INSR) Gene Promoters in Peripheral Blood Leukocytes from Healthy Prepubertal and Pubertal Children
impe0096fc1.3
Novel Insulin-Like Growth Factor 1 Gene Mutation: Broadening of The Phenotype and Implications for Insulin Resistance
impe0096fc1.4
Fetal and Neonatal Endocrinology
Increased catecholamines link fetal stress or growth restriction and neonatal hyperinsulinemic hypoglycemia: a prospective cohort study
impe0096fc2.1
Gene expression profile analysis of the Umbilical cord derived mesenchymal stem cells revealed the difference in fetal programming between preterm SGA and term SGA
impe0096fc2.2
EEG changes in children with congenital hyperinsulinism
impe0096fc2.3
The Arginine-nitric-oxide Pathway Links Suboptimal Fetal Growth to Higher Childhood Systolic Blood Pressure in the Manchester BabyGRO Study
impe0096fc2.4
Endocrinology of Sex Differences 1
Characterization and follow-up of a cohort of thirty patients with 46,XX testicular/ovotesticular disorders of sexual development
impe0096fc3.1
Microdeletion within ESR1 constitutes a worldwide spread susceptibility factor for the development of undermasculinized genitalia
impe0096fc3.2
DSD Interpreter, a mobile application-based tool for Point of Care evaluation of Atypical Genitalia
impe0096fc3.3
The combination of FSH and markers of Sertoli cell function provides a high accuracy strategy to differentiate central hypogonadism from constitutional delay of puberty in boys: a longitudinal prospective study
impe0096fc3.4
Growth and Syndromes
Persistent and stable growth promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: results from an ongoing Phase 3 extension study
impe0096fc4.1
Low-dose infigratinib, an oral selective fibroblast growth factor receptor (FGFR) tyrosine kinase inhibitor, demonstrates activity in preclinical models of FGFR3-related disorders
impe0096fc4.2
Diagnostic yield of a multigene approach in children with short stature of unknown cause: It is time to remove the term idiopathic!
impe0096fc4.3
Predicted Ratio of IGF-1 Observations and Differences in IGF-1 SDS Observations to 96-hour Values Over the Dosing Interval in Pediatric pGHD Patients Receiving Somatrogon
impe0096fc4.4
Fat, Metabolism and Obesity
Evaluation of Clinical Benefit Following Setmelanotide Treatment in Patients With Bardet-Biedl Syndrome
impe0096fc5.1
The N221D Variant in PCSK1 is Highly Prevalent in Childhood Obesity and Can Influence Patients´ Metabolic Profile
impe0096fc5.2
Development of Novel Anorexigenic and Glucoregulatory Chimeric Peptides
impe0096fc5.3
Hepcidin is associated directly with inflammatory markers and inversely with glucose in Indigenous Argentinean children
impe0096fc5.4
Adrenals and HPA Axis 1
Anastrozole improves height outcomes in growing children with congenital adrenal hyperplasia
impe0096fc6.1
Inhibiting the binding of ACTH to the Melanocorticotropin receptor by peptide to block androgen production
impe0096fc6.2
Disruption of Pediatric Cushing Syndrome Evaluations by Heterophile Antibodies interfering with an Adrenocorticotropic Hormone (ACTH) Assay
impe0096fc6.3
Development of a drug screening method for molecular targeted therapy of MIRAGE syndrome
impe0096fc6.4
Bone and Growth
Encaleret (CLTX-305) Normalized Mineral Homeostasis Parameters in Patients with Autosomal Dominant Hypocalcemia Type 1 over 12 months in a Phase 2 Study (NCT04581629)
impe0096fc7.1
A new genetic cause of overgrowth syndrome
impe0096fc7.2
Serum phosphorus levels as a driver of skeletal morbidity in patients with fibrous dysplasia
impe0096fc7.3
Growth Hormone and Testosterone Improve Growth, Initiate Puberty, and Protect Against Vertebral Fractures in Children with Muscular Dystrophy on Chronic Glucocorticoids
impe0096fc7.4
Thyroid 1
Abstract unavailable
impe0096fc8.1
Overexpression of Brachyury and IGF1R in Thyroid Papillary Carcinoma cells: different phenotypes and asocciation with pediatric Thyroid Nodular Pathology
impe0096fc8.2
Sensitivity to thyroid hormones and cardiometabolic risk in euthyroid obese children: a cross-sectional study
impe0096fc8.3
Custom next generation sequencing panel identifies somatic mutations and gene fusions in pediatric papillary thyroid carcinoma
impe0096fc8.4
Endocrinology of Sex Differences 2
Uncovering the role of the SF-1/NR5A1 p.Gly146Ala variant for the phenotype of DSD patients
impe0096fc9.1
Self-reported Feelings of Adult Patients with Differences of Sex Development (DSD) Regarding Genital Surgical Procedures
impe0096fc9.2
Mutation V631I in the Cytochrome P450 oxidoreductase (POR) alters steroid biosynthesis and drug metabolism
impe0096fc9.3
The dose-dependent effect of estrogen on bone mineral density in trans girls
impe0096fc9.4
Miscellaneous
Clinical usefulness of a deep learning-based facial recognition application (Face2Gene) as a diagnostic tool for syndromic endocrine-related disorders
impe0096fc10.1
Targeting androgen production by post-translational regulation of CYP17A1 lyase activity
impe0096fc10.2
Pediatric hypercalcemia in a tertiary center
impe0096fc10.3
Overlapping between dysnaetremias: Ibuprofen, a novel therapeutic key tool to control refractory polyuria – Case series
impe0096fc10.4
Diabetes and Insulin 1
Adolescents with type 2 diabetes experience significant diabetes-specific distress, poor emotional wellbeing and have unmet needs hindering optimal diabetes care
impe0096fc11.1
RIAO as an early biomarker of β-cell failure and predictor biomarker of metabolic syndrome
impe0096fc11.2
Metformin added to intensive insulin therapy improves Neuregulin-4 level and subclinical atherosclerosis in youth with type 1 diabetes
impe0096fc11.3
Meal-induced activation of inflammatory pathways in youth with monogenic diabetes revealed by transcriptome analysis
impe0096fc11.4
GH and IGFs 2
Does early treatment with recombinant human growth hormone impact in visual assessment?
impe0096fc12.1
PDE5 inhibitors may reverse the effects of isolated growth hormone deficiency caused by alternate splicing of the GH1 gene
impe0096fc12.2
An in vivo functional assay to characterize human STAT5B genetic variants during zebrafish development
impe0096fc12.3
In vitro funcional characterizationof two novel missense IGF1 variants
impe0096fc12.4
Adrenals and HPA Axis 2
Retrospective Analysis of Prognostic Factors in Pediatric Patients with Adrenocortical Tumor from Unique Tertiary Center with Long-Term Follow-up
impe0096fc13.1
Pubertal Outcome of 54 Children and Adolescents Treated For Adrenocortical Tumor: A Half of a Century Experience
impe0096fc13.2
Differential methylation of CYP11B1 in girls with high DHEAS levels
impe0096fc13.3
Comparing the single cell transcriptome of wild-type and 21-hydroxylase deficient murine adrenal glands
impe0096fc13.4
Miscellaneous Growth
Inborn Errors of Protein Metabolism: Longitudinal Data on Growth, Puberty, Bone Mineralisation, and Body Compositio
impe0096fc14.1
Abstract Withdrawn
impe0096fc14.2
Possible triggers related to the increased frequency of Idiopathic Central Precocious Puberty during and after COVID-19 confinement at the National Institute of Pediatrics in Mexico
impe0096fc14.3
Pituitary Gigantism: Argentine experience
impe0096fc14.4
Puberty and Pituitary
Update on the etiological diagnosis of central precocious puberty in both sexes
impe0096fc15.1
Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing
impe0096fc15.2
The critical BMI hypothesis for puberty initiation and the gender prevalence difference: evidence from an epidemiological survey in Beijing, China
impe0096fc15.3
Growth after discontinuation of GnRHa treatment for idiopathic central precocious puberty (ICPP): an analytical study of 100 Argentinian girls
impe0096fc15.4
Thyroid 2
A Retrospective Analysis of Patients with Pediatric Papillary Thyroid Cancer not Treated with RAI: Is Less More?
impe0096fc16.1
Thyroid Monitoring Trends Following Iodine Exposure during Cardiac Intervention: Practices at a Large Urban Children’s Hospital
impe0096fc16.2
Validation of Thyroid Interpreter, a mobile application-based tool in the diagnosis and management of thyroid disorders in childhood
impe0096fc16.3
Thyroid Hormone Resistance: clinical case series
impe0096fc16.4
Diabetes and Insulin 2
T regulatory cells with engineered chimeric antigen receptor recognizing live human beta cells as a novel tool for development of type 1 diabetes therapies.
impe0096fc17.1
Diabetes Stigma, Clinical Outcomes, and Substance Use in Adolescents and Young Adults: the SEARCH for Diabetes in Youth Study
impe0096fc17.2
Pharmacologic inhibition of myostatin with a myostatin antibody protects against muscle and bone loss in an STZ-induced mouse model of type 1 diabetes
impe0096fc17.3
Quantification of Liver Iron Measured by Magnetic Resonance in Adolescents with Type 2 Diabetes Mellitus
impe0096fc17.4
Poster Presentations
Adrenals and HPA Axis
Effect of a coenzyme in gene therapy for 21-hydroxylase deficiency with AAV vectors into a model mouse
impe0096p1
Testicular function of 46,XY subjects with differences of sex development (DSD) due to NR5A1 mutations
impe0096p2
Developing A Novel application using long read sequence for
CYP21A2
gene analysis
impe0096p3
Simultaneous determination of urinary catecholamines and free metanephrines by UHPLC-MSMS for diagnosis of pheochromocytomas and paragangliomas
impe0096p4
Simple method for Mitotane determination in plasma samples by LC-DAD
impe0096p5
Correlation of dried blood spot and plasma cortisol assays
impe0096p6
Cortisol Stimulation Tests are Safe and Necessary for Diagnosing Central Adrenal Insufficiency
impe0096p7
X-linked congenital adrenal hypoplasia: a clinical case report and description of a new complex rearrangement in the NR0B1 gene
impe0096p8
Adult Height of 63 Children and Adolescents Treated for Adrenocortical Tumor Over 55 Years
impe0096p9
Cortisol response in Non-Classic Congenital Adrenal Hyperplasia
impe0096p10
Next Generation Sequencing (NGS) in The Diagnosis of PPGLs Associated with A Novel Germinal Variant in EPAS1
impe0096p11
Clinical features of Congenital Adrenal Hyperplasia patients with Testicular Adrenal Rest Tumors
impe0096p12
Cut-off point of basal 17-hydroxyprogesterone levels for the performance of ACTH stimulation testing in patients with suspected non-classical congenital adrenal hyperplasia
impe0096p13
Adrenal finding in a patient with Klippel-Trenaunay syndrome
impe0096p14
Cardiac paraganglioma in a pediatric patient: case report
impe0096p15
Associations between puberty and physical development based on the outcomes of girls with earlier breast development
impe0096p16
Bone, Growth Plate and Mineral Metabolism
Association of Trabecular Bone Score and Bone Mineral Apparent Density with the Severity of Bone Fragility in Children and Adolescents with Osteogenesis Imperfecta: A Cross-sectional Study
impe0096p17
Characterization of X-linked Hypophosphatemia in Latin America: Update from the Disease Monitoring Program
impe0096p18
Serum alkaline phosphatase activity is correlated with the arm span to height ratio in the children with hypophosphatasia
impe0096p19
Evaluation of The Trabecular Bone Score in 35 Children and Adults with X-Linked Hypophosphatemic Rickets
impe0096p20
Orbit
: A Randomized Phase 2/3 Study Consisting of a Phase 2 Single-Blind, Dose-Evaluation Phase and a Phase 3, Double-Blind, Placebo-controlled Phase to Assess the Efficacy and Safety of Setrusumab in Subjects with Osteogenesis Imperfecta
impe0096p21
Hypophosphatemic rickets associated with the BCS1L gene
impe0096p22
Efficacy and safety of equivalent doses of daily vs fortnightly oral vitamin D in treatment ofsymptomatic vitamin D deficiency in children aged 1-10 years: A Randomised controlled trial
impe0096p23
Bone Mineral Density (BMD) at Final Height (FH) in Phenylketonuric (PKU) Patients
impe0096p24
Comparison of bone mineral density before and after treatment for central precocious puberty
impe0096p25
Genotype and Clinical Characteristics Analysis of Fourteen Chinese Short Stature Patients with ACAN Gene Variants
impe0096p26
Sleep and Grow, Fact or Myth? The Effect of Melatonin-Stimulated Exosomes on Growth Plate in vitro Conditions
impe0096p27
Bone Health and Associated Risk Factors in Transgender and Gender-Diverse Youth: an Argentine Cohort
impe0096p28
Effects of burosumab on two siblings with mild X-linked hypophosphatemia
impe0096p29
Neonatal Severe Hyperparathyroidism (NSHPT): A single centre experience from Western India
impe0096p30
PTH resistance in a patient with 2q37 deletion syndrome and Albright hereditary osteodystrophy phenotype
impe0096p31
Multicentric carpotarsal Osteolysis Syndrome (MCTO) diagnosed in two year old Argentinian girl with mutation de novo in gene MAFB
impe0096p32
Novel Pathogenic NPR2 Variants in Short Stature Patients and the Therapeutic Response to rhGH
impe0096p33
Bruck syndrome: Osteogenesis imperfecta with congenital conjoint contractures, case report.
impe0096p34
Patient with cutaneous skeletal hypophosphatemia syndrome treated with Burosumab (monoclonal FGF23 antibody)
impe0096p35
Diabetes and Insulin
Clinical presentation of Japanese patients with KCNK16-MODY
impe0096p36
Physical fitness and compliance of ADA/ISPAD Clinical Guideline Goals among children and adolescents with type 1 diabetes: the Diactive-1 Study
impe0096p37
Single Nucleotide Polymorphism +276G>T of ADIPOQ gene and the occurrence of Associated Autoimmune Diseases in children and adolescents with Type 1 Diabetes Mellitus
impe0096p38
Implementation of an advanced hybrid closed-loop system (MiniMed 780G) in children and adolescents with type 1 diabetes, in a national diabetes training center
impe0096p39
Type 1 diabetes mellitus incidence in Chilean children between 2006 and 2021: significant increase during the COVID-19 pandemic years.
impe0096p40
Sarcopenia in adolescents with diabetes mellitus
impe0096p41
A comparative study of dental caries in children and adolescents with or without diabetes; an observational study in AbuDhabi, UAE
impe0096p42
POC1A
gene defect in two unrelated cases with severe dyslipidemic insulin resistance and SOFT syndrome
impe0096p43
Long-term trends of pediatric type 1 diabetes incidence in Japan: before and during the COVID-19 pandemic years (1999–2021)
impe0096p44
Evaluation of The Prevalence of Attention Deficit Disorder and Hyperactivity in Pediatric Patients with Type 1 Diabetes Mellitus Using Carbohydrate Counting
impe0096p45
IMPACT of Type of Treatment on Health-Related Quality of Life in Children and Adolescents with T1D. A Multicenter Study in LIMA, Perú
impe0096p46
Monogenic diabetes characterization in pediatric population from the last 10 years at Hospital Universitario del Valle, Cali Colombia
impe0096p47
Safety and Glycemic Outcomes of MiniMed™ 780G Advanced Hybrid Closed-Loop System in Adolescents and Adults with Type 1 Diabetes during Ramadan fasting: A randomized controlled trial
impe0096p48
Effect on insulin sensitivity of combined oral hormonal contraceptives and progestin implant use in young women with T1D
impe0096p49
Congenital diarrhea and diabetes due to NEUROG3 mutation: report of 2 cases
impe0096p50
An Interactive E-Book Resource About Inpatient Pediatrics Diabetes Management for Medical Learners: Preliminary Results of a Pilot Study
impe0096p51
Fat, Metabolism and Obesity
Pubertal Development and Growth Spurt in Childhood Obesity: Real World Profiling in 1300 Patients
impe0096p52
Heterozygous Rare Sequence Variants In Genes of The Leptin-Melanocortin Pathway are Highly Prevalent in Childhood Obesity But Do Not Associate with Distinctive Phenotypic Features
impe0096p53
The stability of amino acids, free and acyl-carnitine in dried blood specimens stored after newborn screening
impe0096p54
Association of gut microbiota and glucose metabolism in children with disparate degrees of adiposity
impe0096p55
Associations of obesity with growth and puberty in children: a cross-sectional study in Fuzhou, China
impe0096p56
Differential metabolomic changes in response to saturated and unsaturated fatty acids
impe0096p57
Obesity Interpreter, A Mobile Application-Based Tool, Provides A Cost-Effective Point of Care Guidance for The Evaluation of Children and Adolescents with Obesity
impe0096p58
Association Between Markers of Adiposity During Childhood and Puberty Onset in A Cohort of Latino Girls
impe0096p59
Clinical Characteristics of Variants in POMC, PCSK1, LEPR, NCOA1, and SH2B1
impe0096p60
Sarcopenia in children with acute leukemia was worsened after induction therapy
impe0096p61
Physical and metabolic characteristics of adolescents with severe obesity referred for bariatric surgery; observational study from Abu Dhabi, United Arab Emirates
impe0096p62
Secular trends in obesity and dyslipidemia in 10-year-old children: a long-term epidemiological survey over 27 years in Oita City, Japan
impe0096p63
Comparing efficacy and safety of monthly vs daily administration of oral cholecalciferol to correct vitamin D deficiency in adolescents
impe0096p64
Persistence of Metabolic Healthy phenotype in Metabolically Healthy Obese Indian children and adolescents
impe0096p65
A novel variant in
MRAP2
associated with severe early-onset obesity: a case report
impe0096p66
Fetal, Neonatal Endocrinology and Metabolism
Hematocrit correction: impact on neonatal screening (NS) for endocrinopathies
impe0096p67
Paternally derived chromosome 6q24 triplication causes neonatal diabetes mellitus
impe0096p68
Does neonatal hypoglycemia cause brain injury? – A cohort study on long-term neurodevelopmental outcome in former neonates with mild or severe hypoglycemia
impe0096p69
Determination of gestational age-adjusted cut-off values for neonatal screening (NS) for congenital adrenal hyperplasia (CAH)
impe0096p70
Continuous intravenous glucagon in children with congenital hyperinsulinism: A retrospective single center evaluation of effects and adverse effects
impe0096p71
Does iodine excess affect fetal thyroid gland differently in early gestation? A prospective study on the impact of oil-soluble contrast hysterosalpingography on offspring’s thyroid function
impe0096p72
Long-Acting Octreotide analogue (LAR) Treatment in Diazoxide Unresponsive Congenital Hyperinsulinism (CHI) – Short term outcome
impe0096p73
Adrenal steroids profile by UHPLC-MS/MS in recalled infants of the newborn screening for Congenital Adrenal Hyperplasia
impe0096p74
“Successful intrauterine treatment of fetal goiter associated with thyroid dyshormonogenesis: case report”
impe0096p75
IGF2-OMAs are a potential cause of hypoglycemia in infants
impe0096p76
Data from the Brazilian Registry of Congenital Hyperinsulinism - Association of Congenital Hyperinsulinism
impe0096p77
GH and IGFs
Mice with pappa2 deficiency exhibit a negative energy balance associated with disturbances in the hypothalamic control of food intake and altered hepatic lipid metabolism in a sex-specific manner
impe0096p78
Estradiol and testosterone modulate GH sensitivity through SOCS1 and SOCS2 in HEPG2 cells
impe0096p79
p.Gln207Arg GH1 allelic variant associated to GH deficiency and specific intronic region may be a modulator of GH secretion
impe0096p80
Functional characterization of a novel intronic IGF1R gene variant.
impe0096p81
Children with Growth Hormone Deficiency Who Completed Treatment with Lonapegsomatropin Approached or Exceeded Average Parental Height at Week 130 in the enliGHten Trial
impe0096p82
Baseline Demographics of the OraGrowtH210 Trial Studying LUM-201 in Idiopathic Pediatric Growth Hormone Deficiency (iPGHD) Interim Analysis Data
impe0096p83
Development of A Minimum Data Set for the Monitoring of Recombinant Human Growth Hormone (rhGH) Therapy in Children with Growth Hormone Deficiency (GHD)– A GloBE-Reg Initiative
impe0096p84
Evaluation of Body Compositon and Trabecular Bone Score After rhgh Discontinuation During the Transition Period in Patients with Pituitary Insufficiency: Preliminary Results
impe0096p85
Impact on IGF1R and RANKL expression and IGF-1 and IGFBP-3 serum levels of zoledronic acid treatment compared with pamidronate in children with Osteogenesis Imperfecta
impe0096p86
Association of IGF with Growth and Cognitive Development Among Young Children in Rural Tanzania: A Secondary Analysis of the Early Life Interventions in Childhood Growth and Development In Tanzania (ELICIT) Study
impe0096p87
Experts’ Priorities for Treatment of Pediatric Growth Hormone Deficiency – Results of an Expert Panel of Physicians from Latin America
impe0096p88
Adherence to growth hormone treatment using a connected injection device in six countries from Latin America: real-world exploratory descriptive analysis of data from 2019 to 2021
impe0096p89
Proposed criteria to guide the molecular study of the IGF-1 receptor gene (
IGF1R
)
impe0096p90
Growth hormone therapy was effective and well-tolerated over the long-term in Japanese children with short stature due to Noonan syndrome: a multicentre, non-interventional post-marketing study
impe0096p91
Growth and Syndromes
A Randomized Controlled Trial of Vosoritide in in Infants and Toddlers with Achondroplasia
impe0096p92
Medical complications in children with achondroplasia: learnings from PROPEL – a prospective clinical assessment study
impe0096p93
Potentially pathogenic variants identified by next-generation sequencing in patients with short stature of unknown origin
impe0096p94
Bone mineral density in a cohort of children with ACH participating in the PROPEL studies
impe0096p95
Bone age in children with achondroplasia: findings from a cohort of children participating in the PROPEL studies
impe0096p96
6-Month Subcutaneous Leuprolide Acetate Achieved and Maintained Hormonal Suppression in Overweight Children
impe0096p97
Girls with short statute and Xp22;Yq11 translocation: should a prophylactic gonadectomy be recommended?
impe0096p98
Next generation sequencing implementation for the diagnosis of endocrine disorders: 4 years-experience in a public paediatric hospital
impe0096p99
The Impact of Delaying Pubertal Development on Height Gain and Near Adult Height in Short Children born Small for Gestational Age (SGA) treated with Growth Hormone
impe0096p100
A prospective genetic analysis of children with idiopathic short stature (ISS) using whole-exome sequencing (WES): first results
impe0096p101
Trio whole-exome sequencing in patients with syndromic short stature of unknown cause
impe0096p102
Beckwith-Wiedemann Syndrome with growth failure. An oxymoron or two different diagnoses?
impe0096p103
Diagnostic implementation of the MS-MLPA technique in patients with clinical suspicion of Beckwith-Wiedemann and Silver Russell syndromes.
impe0096p104
Familial Silver-Russell like Syndrome with postnatal microcephaly caused by a partial
HMGA2
gene deletion
impe0096p105
Current use of final height prediction methods among Chilean pediatric endocrinologists
impe0096p106
Multisystem Endocrine Disorders
Cushing Syndrome in patients with McCune-Albright Syndrome
impe0096p107
Sphingosine-1-Phosphate Lyase Deficiency associated with Adrenal Insufficiency and Nephrotic Syndrome: two siblings with the same mutation and different clinical course
impe0096p108
Nephrogenic syndrome of inappropriate diuresis: a case report of chronic euvolemic hyponatremia associated with activating mutation in the arginine vasopressin receptor AVPR2
impe0096p109
Experience in Transition from pediatric to adult care in chronic endocrinological pathology in a general hospital. Endocrinology transition clinic
impe0096p110
Congenital hypopituitarism and hyperinsulinism associated with FOXA2 deletion
impe0096p111
Pituitary, Neuroendocrinology and Puberty
Rapid Weight Gain in Early Life is Associated with Central Precocious Puberty; a Nationwide Population-based Study
impe0096p112
Predicted structural destabilisation of GnRHR Arg139His pathogenic variant in a boy with hypogonadotrophic hypogonadism.
impe0096p113
Rare plurihormonal Pit-1 adenoma presents as severe isolated clinical hyperthyroidism in 15 year old adolescent
impe0096p114
Trends in Idiopathic Central Precocious Puberty (ICPP) incidence during the last decade and Covid19-pandemic lockdown impact. A case-control study.
impe0096p115
Evaluation of Brain Nuclear Magnetic Resonance Findings in Patients with Apparently Idiopathic Central Precocious Puberty (Cpp) Aged Between 6 and 8 Years at Diagnosis
impe0096p116
CBL-Related Disorder in A Boy with Microcephaly and Growth Hormone Deficiency
impe0096p117
Clinical, anthropometric data and laboratory results of girls with precocious puberty before and during COVID-19 pandemic lockdown.
impe0096p118
IMPACT of The COVID-19 Pandemic on The Incidence of Central Precocious Puberty: A Systematic Review
impe0096p119
Abstract unavailable
impe0096p120
Long term use of tolvaptan in a child with chronic SIADH secondary to intracranial teratoma
impe0096p121
Did the prevalence of Central Precocious Puberty increase in girls during the Covid19 Pandemic? Comparison of cases diagnosed in a pediatric endocrinology service in Ciudad Autónoma de Buenos Aires in two periods: pre-pandemic and pandemic
impe0096p122
Effect of weight change on the diagnosis of central precocious puberty
impe0096p123
Clinical features, response to treatment and long-term follow-up of prolactinomas in children and adolescents: A retrospective single centre analysis
impe0096p124
A multicentric study of germinoma with isolated pituitary stalk involvement during the pandemic of COVID-19 in Chile
impe0096p125
Development and Validation of a Mobile Application-based assessment of Pubertal Disorders
impe0096p126
Continuous arginine-vasopressin infusion during liver transplantation in a child with central diabetes insipidus and Langerhans cell histiocytosis.
impe0096p127
Neuroendocrine Tumor as a cause of Ectopic Cushing Syndrome in pediatrics
impe0096p128
Accuracy Subcutaneous Gonadotropin-Releasing Hormone Agonist (Triptorelin) Test compare with Intravenous Gonadorelin test for diagnosing central precocious puberty
impe0096p129
Hypothalamic Hamartoma Series
impe0096p130
Is Basal Luteinizing Hormone Level Accurate for Diagnosis of Central Precocious Puberty?
impe0096p131
Craniopharyngioma Associated to Ocular and Brain Congenital Abnormalities
impe0096p132
Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology
Treatment outcomes of gonadotropin-releasing hormone agonist in girls with central precocious puberty: Prediction of adult height using deep learning algorithm
impe0096p133
Hashtag Hormones: Characterizing PCOS-Related Content on TikTok
impe0096p134
Intervention effect of probiotics on the early onset of puberty induced by soy isoflavones
impe0096p135
Differences of Sex Development Associated to Asymmetrical Overgrowth in a Patient with Chromosomal Mosaicism
impe0096p136
Birth weight and height in individuals with SF-1/NR5A1 variants: Results from the international SF1next study
impe0096p137
Pitfalls in the molecular diagnosis of 46, XY DSD complete gonadal dysgenesis
impe0096p138
Clinical, Psychological, and Molecular Aspects of a Large Androgen Insensitivity Syndrome Cohort
impe0096p139
The first familial case of the WT1 Zinc Finger domain 4 pathogenic variant
impe0096p140
Low gonadotropins: a red flag in Klinefelter Syndrome
impe0096p141
WT1 deletion in 46,XY DSD – the importance of copy number variant analysis
impe0096p142
Ovarian cell dysfunction at diagnosis in girls with haematological malignancies
impe0096p143
The Pre- and Postnatal Influence of Androgens in the Psychosexual Development of Classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency
impe0096p144
Identification of The Minimum Dose of Human Chorionic Gonadotropin Hormone to Generate Positive Response in Patients with Differences in Sexual Development At The National Institute of Pediatrics in The Period 1990-2020
impe0096p145
Survey of Australasian clinicians to assess current care provision models and the use of genetic testing in Differences of Sex Development (DSD)
impe0096p146
5 Alpha Reductase Deficiency: A Not So Uncommon Cause of 46XY DSD
impe0096p147
3B-hydroxysteroid dehydrogenase 2 (3BHSD2) deficiency 6 cases review
impe0096p148
Identification of a novel variant in MYRF by NGS led to the detection of a clinically inapparent congenital heart disease in a patient with 46,XY DSD
impe0096p149
Pathogenicity testing of fifteen novel missense SF-1/NR5A1 variants in DSD patients
impe0096p150
Argentinian Transgender Children and Adolescents Cohort: an Eight Year Observational Multicenter Study
impe0096p151
Thyroid
A Tyrosine-kinase inhibitors (TKIs) treatment in sporadic Medullary Thyroid Cancer in a boy
impe0096p152
Establishment and verification of pediatric thyrotrophin and thyroid hormones reference intervals using indirect methods
impe0096p153
Hypothyroidism secondary to steroid-resistant nephrotic syndrome in children
impe0096p154
Prognostic factors in papillary thyroid cancer, experience in a third level care hospital
impe0096p155
Thyroid nodule cytology and malignancy risk in children and adolescents in a terciary centre.
impe0096p156
Neurocognitive long-term follow-up of newborns with neonatal hyperthyroidism
impe0096p157
Thyroid Storm Following Radioiodine Therapy in An Adolescent Girl: An Unusual Evolution
impe0096p158
Thyroglossal duct cyst carcinoma in pediatric patient with Simpson Golabi Behmel syndrome: A possible causal relationship?
impe0096p159
Severe Craneosynostosis in Non-Autoimmune Neonatal Hyperthyroidism, Suspected TSHR Activating Mutation, A Case Report
impe0096p160
Diffuse Sclerosing Papillary Thyroid Carcinoma in An 8-Year-Old Girl. Five-Year Follow Up. ¿is it so Aggressive?
impe0096p161
Screening of Autoimmunity and Thyroid Dysfunction in Asymptomatic Children and Adolescents With Non-Segmental Vitiligo
impe0096p162
Association of infantile subclinical hypothyroidism and Pelizaeus-Merzbacher Disease.
impe0096p163
Primary Hyperparathyroidism with Multiple Brown Tumors Mimicking Skeletal Metastasis. A Rare Case Report
impe0096p164
Thyroid Function in Children Medicated with Carbamazepine
impe0096p165
Poorly Differentiated Thyroid Carcinoma in Pediatrics, About A Case
impe0096p166
Papillary thyroid carcinoma in a toxic nodular goiter appearing in a girl with Graves’ Disease: case report
impe0096p167
ePoster Presentations
Adrenals and HPA Axis
POR (P450 oxidoreductase) deficiency: report of a case
impe0096ep1
Paraganglioma in pediatric patient: Case report of a 13-year-old Girl
impe0096ep2
Avaliation of overwheigh frenquency in children and teenager with congenital adrenal hyperplasia
impe0096ep3
Infant with primary hypoaldosteronism due to aldosterone synthase deficiency
impe0096ep4
A Case with Late-Onset Familial Congenital Lipoid Adrenal Hyperplasia
impe0096ep5
Adrenoleukodystrophy: A Case Report
impe0096ep6
Bone, Growth Plate and Mineral Metabolism
Primary hyperparathyroidism due to an atypical parathyroid adenoma in an adolescent. Case report
impe0096ep7
Hypophosphatemic Rickets in a child with Ewings sarcoma following chemotherapy induced Fanconi syndrome
impe0096ep8
Hereditary Hypomagnesemia with Secondary Hypocalcemia: A Case series from India
impe0096ep9
Bone Health Index comparison before and after puberty induction in children with delayed puberty
impe0096ep10
Challenges in Diagnosis and Management of Vitamin D Dependent Rickets Type 2; A Case Series from LMIC
impe0096ep11
Recombinant Human Growth Hormone Treatment for Osteogenesis Imperfecta: A Case Report
impe0096ep12
Prevalence of fractures and hypogonadotrophic hypogonadism in patients with Duchenne pathology
impe0096ep13
A patient with McCune-Albright syndrome without endocrinological charge - the natural course of the disease.
impe0096ep14
Case Report: Small Stature Associated with Uncertain Significance Variant of The IHH Gene
impe0096ep15
Genu valgum deformity in a 12-year-old girl: the importance of an appropriate assessment in the diagnosis of rare diseases with genetic-bone-metabolic involvement
impe0096ep16
Hypercalcemia Under Treatment with Recombinant Human Growth Hormone (rGH) in A Male Patient with Familial Hypocalciuric Hypercalcemia (FHH)
impe0096ep17
Diabetes and Insulin
Comparison of physical condition in adolescents with type 1 diabetes and general population in Chile
impe0096ep18
Clinical and Laboratory Characteristics of Children with Type 1 Diabetes Mellitus Using Insulin Degludec
impe0096ep19
FOXP3 Neonatal diabetes, case report
impe0096ep20
6q24-related Transient Neonatal Diabetes: future outcome and importance of genetic counseling
impe0096ep21
Mauriac syndrome: a rare complicacation with an easy solution
impe0096ep22
Monogenic Diabetes: A case series
impe0096ep23
Neonatal Diabetes Mellitus in infant due to insulin gene mutation
impe0096ep24
Glucokinase Gene Variant as A Cause of Mody Diabetes
impe0096ep25
Fat, Metabolism and Obesity
Assessment of The Nutritional Status and Food Consumption of Brazilian Girls with Central Early Puberty in Treatment with Leuprorelin Acetate During The COVID-19 Pandemic
impe0096ep26
Frequency of depression in adolescents with obesity
impe0096ep27
Familial hyperchylomicronemia due to lipoprotein lipase deficiency: dietary management
impe0096ep28
Basilicata-Akhtar syndrome caused by a novel hemizygous variant in MSL3 gene: a case report
impe0096ep29
Metabolic Disorders in Medicated Adolescents with Isotretinoin
impe0096ep30
Burden of Paediatric Obesity and Associated Metabolic Complications in A Tertiary Care Hospital In India
impe0096ep31
Hyperuricemia as a risk factor associated with metabolic syndrome in obese and overweight children
impe0096ep32
Fetal, Neonatal Endocrinology and Metabolism
Neonatal Screening Program In Argentina. 37 Years of experience at the Fundación de Endocrinología Infantil (FEI)
impe0096ep33
Congenital Hyperinsulinism: review of cases after surgical treatment at the Hospital das Clínicas de Ribeirão Preto (HCRP), University of São Paulo
impe0096ep34
Abstract unavailable
impe0096ep35
Abstract unavailable
impe0096ep36
Cyclic menses in a preterm infant
impe0096ep37
Early diagnosis of Kabuki syndrome in an infant with congenital hyperinsulinism
impe0096ep38
Knowledge of Pregnant Women About The Benefits of Breastfeeding for The Baby's Health in The Short and Long Term.
impe0096ep39
Knowledge of Pregnant Women About "Developmental Programming" and The Importance of The 1000 Days for The Long-Term Health of The Baby
impe0096ep40
Two cases of diffuse forms of diazoxide-responsive congenital hyperinsulinism with positive PET-CT findings
impe0096ep41
Pseudohypoaldosteronism type 1, a diagnosis of difficult clinical suspicion. Case report
impe0096ep42
GH and IGFs
Daily growth hormone adherence and height velocity in children with pediatric growth hormone deficiency (pGHD) from a single-center institution in Minnesota, USA
impe0096ep43
GH Stimulatory Tests for Diagnosing Isolated GH Deficiency
impe0096ep44
The effect of growth hormone treatment on the body composition and metabolic profile in children born small for gestational age with short stature
impe0096ep45
Pituitary Abnormality in Pediatric Growth Hormone Deficiency
impe0096ep46
Growth and Syndromes
A novel CNOT1 gene frameshift mutation causes Vissers-Bodmer syndrome
impe0096ep47
Wiedemann-Steiner Syndrome: Case-report and review of literature
impe0096ep48
Contiguous gene syndrome involving multisystem diseases characterized by short stature
impe0096ep49
Assessment of growth and ventilatory sleep disorders in Prader Willi Syndrome patients with early onset of recombinant growth hormone treatment.
impe0096ep50
Glucose metabolism in patients with short stature born small for gestational age (SGA) or with intrauterine growth restriction (IUGR) treated with recombinant human growth hormone (rhGH)
impe0096ep51
Ring Chromosome 17 Syndrome and Its Growth Hormone Response: A Case Report
impe0096ep52
A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome type 2
impe0096ep53
A rare homozygous IGFALS gene pathogenic variant: a case report
impe0096ep54
Genotype and Clinical Characteristics Analysis of a Short Stature Patient with HUWE1 Gene Variants
impe0096ep55
Noonan syndrome: a cause of short stature with cardiac manifestations and characteristic facial phenotype
impe0096ep56
Long term follow-up of a child with McCune Albright syndrome
impe0096ep57
Isolated growth hormone deficiency related to GH1 gene deletion: Case report and response to treatment with rhIGF1
impe0096ep58
Multisystem Endocrine Disorders
Dicer 1 Mutation: The Case of a Family
impe0096ep59
New presentation of autoimmune polyglandular syndrome in a 4 years old child with Addison disease, autoimmune thyroiditis, and myasthenia gravis.
impe0096ep60
Pituitary, Neuroendocrinology and Puberty
Adipsic Diabetes Insipidus (ADI) in A Pediatric Patient with Panhypopituitarism Secondary to Craniopharyngioma: A Rare Manifestation Potentially Fatal
impe0096ep61
Use of pasireotide in 15 year old female with pituitary gigantism and delayed bone age
impe0096ep62
Searching mutations in pituitary adenomas – clinical presentation of 3 pediatric acromegalic patients
impe0096ep63
Increased incidence of precocious and early accelerated puberty in females, during and after the Argentinian Covid-19 lock-down.
impe0096ep64
Cushing’ disease in three patients with chronic kidney disease
impe0096ep65
Novel mutation in AVP gene in a family with Autosomal Dominant Central Diabetes Insipidus
impe0096ep66
Effectiveness of Triptorelin test compared to classic GnRH test when diagnosing central precocious puberty in girls
impe0096ep67
Stimulated copeptin measurements in the differential diagnosis of diabetes insipidus: a case in pediatrics
impe0096ep68
Efficacy and safety of triptorelin 3-month formulation in Chinese children with central precocious puberty: a 6-month open-label single-arm phase 3 study
impe0096ep69
Arhinia, choanal atresia, microphthalmia and hypogonadism: case report
impe0096ep70
Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology
Peripheral Precocious Puberty Due To Rare Form of Congenital adrenal hyperplasia,11 Beta Hydroxylase Deficiency (CYP11B1 MUTATION).
impe0096ep71
Different faces of menarche praecox
impe0096ep72
Retrospective analysis to describe characteristics of transgender children and adolescents referred to a pediatric endocrinology service
impe0096ep73
Leydig cell hyperplasia in children: Case report
impe0096ep74
Abnormal Uterine Bleeding Case Report
impe0096ep75
Case Series of Neurofibromatosis Type 1 Presenting with Different Pubertal Presentation
impe0096ep76
Etiological Characteristics of Patients with Sexual Development Disorders Seen at The Pediatric Endocrinology Service of A Tertiary Hospital
impe0096ep77
Juvenile-type granulosa cell tumor in girls under 8 years of age: case reports
impe0096ep78
Primary amenorrhea associated with Pringle-Bourneville Syndrome: a case report
impe0096ep79
A special chromosome karyotype causes atypical Turner syndrome
impe0096ep80
Knowledge and Attitudes of Medical Students Regarding Transsexuality
impe0096ep81
Thyroid
Falsely elevated concentration of TSH in a boy with central precocious puberty
impe0096ep82
Familial medullary thyroid carcinoma, case report
impe0096ep83
Slipped capital femoral epiphysis in a patient with hyperthyroidism: A novel endocrine association?
impe0096ep84
Do Overweight and Obese Children Have Thyroid Dysmorphology?
impe0096ep85
Follicular thyroid carcinoma in a child with hyperthyroidism
impe0096ep86
Fetal goiter: a case report
impe0096ep87