ESPE Abstracts

ESPE Abstracts

Scientific Programme, ePosters & Abstracts

Published by BioScientifica
Previous issue | Volume 98 | ESPE2024

62nd Annual ESPE (ESPE 2024)

Poster Category 2

Late Breaking

Previous section
Thyroid
Table of contents

hrp0098p2-296 | Late Breaking

Treatment with Continuous Subcutaneous Hydrocortisone Infusion (CHSI) in Children with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency: An Option for Poorly Controlled Patients

hrp0098p2-297 | Late Breaking

CYP21A2 genotype and phenotypic manifestation in children with congenital adrenal hyperplasia from a tertiary care center in Eastern India.

hrp0098p2-298 | Late Breaking

A real-world data analysis of 37 pediatric patients with pheochromocytoma and paraganglioma: Evaluation of the concordance between current diagnostic and treatment algorithms and clinical management practices in resource-limited settings

hrp0098p2-299 | Late Breaking

A novel mutation in type 1 familial glucocorticoid deficiency associated with a deletion of chromosome 9

hrp0098p2-300 | Late Breaking

Comparison of Steroid Hormone Levels Measured by Immunoassay and Liquid Chromatography-Mass Spectrometry (LC-MS) Methods in the Follow-Up of Patients with Congenital Adrenal Hyperplasia

hrp0098p2-301 | Late Breaking

Use of a F-Dex Binding Assay to Determine Steroid Response in Patients with Congenital Adrenal Hyperplasia

hrp0098p2-302 | Late Breaking

Clinical and molecular characteristics of 26 patients with P450 oxidoreductase deficiency: A multicenter study

hrp0098p2-303 | Late Breaking

Copy number variations from whole exome sequencing in children with skeletal dysplasia

hrp0098p2-304 | Late Breaking

Basal Ganglia Calcification in Children with Hypoparathyroidism and Pseudohypoparathyroidism: Characterization of Relationships and Clinical and Laboratory Findings

hrp0098p2-305 | Late Breaking

Clinical Evaluation and Molecular Analysis of Genetic and Epigenetic Inactivation Defects in GNAS in children: A multicenter experience in China

hrp0098p2-306 | Late Breaking

Genotype and clinical characteristics analysis of nineteen chinese short-stature patients with acan gene variants

hrp0098p2-307 | Late Breaking

An Observational Study to evaluate levels of Alkaline Phosphatase in Boys with Duchenne Muscular Dystrophy in South Wales.

hrp0098p2-308 | Late Breaking

A Novel homozygous founder mutation in UFSP2 is associated with a distinct form of skeletal dysplasia in Emiratis

hrp0098p2-309 | Late Breaking

Inadequate immune response post- vaccination and recurrent bacterial infections in a patient with X-linked hypophosphatemia, resolved under Burosumab therapy

hrp0098p2-310 | Late Breaking

Hypervitaminosis D-induced hypercalcemia in infants: just a simple intoxication?

hrp0098p2-311 | Late Breaking

Genotype and phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type II (VDDRII): A nationwide multicenter retrospective cross-sectional study

hrp0098p2-312 | Late Breaking

Infantile Hypercalcemia Type 2 due to a novel compound heterozygous association in the SLC34A1 gene in a neonate with hypercalcemia and nephrocalcinosis

hrp0098p2-313 | Late Breaking

Correlation of Bone Health Index (BHI) and Metacarpal Index (MCI) with calcium metabolism parameters in children and adolescents

hrp0098p2-314 | Late Breaking

Bone Health Index (BHI) and Metacarpal Index (MCI) in boys and girls on treatment with aromatase inhibitors

hrp0098p2-315 | Late Breaking

Semaglutide modulated the gut microbiome composition and improved bile acid profiles in a mouse model of diabetic nephropathy

hrp0098p2-316 | Late Breaking

A critical role for iron import through the transferrin receptor in developing ß-cells.

hrp0098p2-317 | Late Breaking

A case of A20 haploinsufficiency and type 1 diabetes mellitus in an infant

hrp0098p2-318 | Late Breaking

Levels of NK cells in a cohort of Bulgarian children with type 1 diabetes

hrp0098p2-319 | Late Breaking

Sex, age and irisin levels in pediatric type 1 diabetes: a pilot study

hrp0098p2-320 | Late Breaking

Screening for celiac disease in children and adolescents with type 1 diabetes, what to do?

hrp0098p2-321 | Late Breaking

Lipid lowering therapy, LDL- and non-HDL-cholesterol in children and adolescents with type 1 diabetes: An analysis based on the DPV registry

hrp0098p2-322 | Late Breaking

Mauriac syndrome: A rare complication of Type 1 Diabetes Mellitus

hrp0098p2-323 | Late Breaking

Hypoglycemia and type 2 diabetes mellitus in a patient with endogenous high methanol and his follow up

hrp0098p2-324 | Late Breaking

HOMA and Matsuda Index as Screening Tests for Cystic Fibrosis Associated Diabetes in Children

hrp0098p2-325 | Late Breaking

A novel mutation of CGK gene in patient with Diazoxide responsive congenital hyperinsulinism

hrp0098p2-326 | Late Breaking

Abstract unavailable

hrp0098p2-327 | Late Breaking

A myostatin inhibitory antibody potentiates the positive effects of insulin on the skeletal muscle and bone phenotype of insulin-deficient diabetic female mice

hrp0098p2-328 | Late Breaking

Clinical study of glucose metabolism after allogeneic hematopoietic stem cell transplantation for children with β-thalassemia major

hrp0098p2-329 | Late Breaking

Metformin Maybe Sufficient to Control Glycemia and Delay Insulin Dependency in Obese Children Presenting with Type 1 DM: A Report of 2 Cases

hrp0098p2-330 | Late Breaking

Bone turnover markers in adolescents with type 1 diabetes before and after low carbohydrate diet versus a Mediterranean diet

hrp0098p2-331 | Late Breaking

Impact of Diabetes Mellitus on Growth of the Affected Children and Young People - Single Centre Experience from Oman

hrp0098p2-332 | Late Breaking

Familial Hypercholesterolemia in Saudi Arabia: Clinical Characteristics and Mortality Rate

hrp0098p2-333 | Late Breaking

Accelerated growth of preadipocyte cultures with TSC1 downregulation might be linked to lipoma development and can be reversed by mTOR or PI3K inhibition

hrp0098p2-334 | Late Breaking

Predicting metabolically unhealthy obesity in children

hrp0098p2-335 | Late Breaking

Exploring the clinical outcomes and experiences for young people (12-17) taking Liraglutide for weight loss

hrp0098p2-336 | Late Breaking

The Role of Spexin in Metabolic Syndrome Among Childhood Obesity

hrp0098p2-337 | Late Breaking

Abetalipoproteinemia: a case report

hrp0098p2-338 | Late Breaking

Reducing BMI below the obesity threshold in children aged 6 to <12 years treated with once-daily liraglutide 3.0 mg: A secondary analysis of the SCALE Kids study

hrp0098p2-339 | Late Breaking

Adipose tissue Ago2-deficiency improves obesity-related body fat distribution and metabolic disorders by reducing miRNA production and promoting BCAA catabolism

hrp0098p2-340 | Late Breaking

Evaluating the efficacy of the Evira treatment for childhood obesity treatment-a 26- week single arm interventional study in Abu Dhabi, United Arab Emirates

hrp0098p2-341 | Late Breaking

Risk factors for common obesity among primary school pupils in Batna (Algeria)

hrp0098p2-342 | Late Breaking

3-Month real-world setmelanotide hunger and weight outcomes in two French paediatric patients with hypothalamic obesity

hrp0098p2-343 | Late Breaking

Reshaping of the chromatin landscape and angiogenic process in umbilical vein endothelial cells of small for gestational newborns

hrp0098p2-344 | Late Breaking

Fluorescence-Guided Laparoscopic Near-Total Pancreatectomy: An Innovative Approach for Infants with Diffuse Congenital Hyperinsulinism—A Case Series

hrp0098p2-345 | Late Breaking

Association between maternal and fetal Small Chain Fatty Acids and offspring anthropometry during the first year of life in pregnancies with GDM: MySweetheart study

hrp0098p2-346 | Late Breaking

Dynamic changes in exocrine pancreatic function after near total pancreatectomy in CHI Patients with KATP channel genes variants

hrp0098p2-347 | Late Breaking

Effects of Music at 432 Hz on Biological Stress Responses in Infants born Preterm and at Term

hrp0098p2-348 | Late Breaking

Do aromatase inhibitors used during adolescence affect male reproductive function in adulthood? An exploratory study.

hrp0098p2-349 | Late Breaking

Correlation of Pituitary Volume/Size/Height with Clinical Factors in Growth Hormone Deficiency Patients: A Comprehensive Review

hrp0098p2-350 | Late Breaking

The genetic and clinical aspects of 10 patients with GH-IGF-1 axis gene variants

hrp0098p2-351 | Late Breaking

Up to 5 years of once-weekly somatrogon treatment in pediatric patients with growth hormone deficiency: results from an open-label extension of a global Phase 3 study

hrp0098p2-352 | Late Breaking

Predictive factors for growth hormone response in the first year of treatment among children with growth hormone deficiency in Algeria

hrp0098p2-353 | Late Breaking

Association between isolated growth hormone deficiency and Jansen de Vries Syndrome: a case report from a Romanian Paediatric Endocrinology Department

hrp0098p2-354 | Late Breaking

The IGF1 generation test as a tool to predict growth response to growth hormone treatment in children with growth hormone deficiency

hrp0098p2-355 | Late Breaking

A new score for the diagnosis of Growth hormone deficiency in prepubertal children

hrp0098p2-356 | Late Breaking

Severe oedema during treatment with long acting GH

hrp0098p2-357 | Late Breaking

Real-world IGF-1 Variations & Its Management in Children on Recombinant Human Growth Hormone (rhGH) Therapy (RIGHT Study)

hrp0098p2-358 | Late Breaking

Cross-sectional Insights into the Effects of Heavy Metal Mixtures on Height among Korean Preschoolers: Findings from the Korean National Environmental Health Survey Cycles 3 and 4

hrp0098p2-359 | Late Breaking

High Frequency of Copy Number Variations as Genetic Causes of Failure to Achieve Catch-Up Growth in Small for Gestational Age Children: A Multicenter Study in Korea

hrp0098p2-360 | Late Breaking

Bone Healt in young patients with Turner Syndrome: crossectional and longitudinal retrospective data.

hrp0098p2-361 | Late Breaking

Assessment of Growth Hormone Treatment in Korean Pediatric Growth Disorders: 11-Year Interim Analysis from the LG Growth Study

hrp0098p2-362 | Late Breaking

Unusual response to estrogen replacement therapy complicated by ovarian cyst in a girl with Turner syndrome

hrp0098p2-363 | Late Breaking

Clinical and Genetic Features of Chinese Patients with Geleophysic and Acromicric Dysplasias due to FBN1 Mutations: A Case Series

hrp0098p2-364 | Late Breaking

The Influence of puberty timing on the development of metabolic Syndrome in Turner Syndrome patients.

hrp0098p2-365 | Late Breaking

The Diagnostic Yield of Exome Sequencing in Idiopathic Short Stature

hrp0098p2-366 | Late Breaking

The genomic landscape of children with short stature presenting to a tertiary hospital in UAE.

hrp0098p2-367 | Late Breaking

A Novel Case of Lipoatrophy Due to a Non-Pegylated Long-Acting Growth Hormone Somatrogon

hrp0098p2-368 | Late Breaking

Unusual presentation of Wolfram syndrome in children with urinary tract dysfunctions.

hrp0098p2-369 | Late Breaking

Management challenges of an infant with multiple endocrinopathies with McCune Albright Syndrome: A Case Report

hrp0098p2-370 | Late Breaking

Multiple acyl coa dehydrogenase deficiency complicated with steroidogenic diabetes: A case report

hrp0098p2-371 | Late Breaking

An exploration of a data visualisation web application for rare disease registries.

hrp0098p2-372 | Late Breaking

Caregiver-reported quality of life of patients with MCT8 deficiency: results from a cross-sectional survey

hrp0098p2-373 | Late Breaking

Screen time of children under five years old: repercussions on the habits and parents positioning.

hrp0098p2-374 | Late Breaking

Analysis of serum microplastics in girls with precocious puberty and its correlation with steroid hormones

hrp0098p2-375 | Late Breaking

Characteristics of pubertal development in turner syndrme along a 20 - year follow-up

hrp0098p2-376 | Late Breaking

Central Precocious Puberty and MKRN3 variants: new insights into the protein RING finger structure, and on protein ubiquitination and localization

hrp0098p2-377 | Late Breaking

The etiology of Central Precocious Puberty and the Impact of Gonadotropin-Releasing Hormone Agonist Therapy: Albanian experience.

hrp0098p2-378 | Late Breaking

Serum vascular endothelial growth factor-A (VEGF-A) levels regarding pubertal stage and obesity in girls

hrp0098p2-379 | Late Breaking

Hypothalamic obesity following craniopharyngioma surgery; what is the role of hypothalamic inflammation and gliosis?

hrp0098p2-380 | Late Breaking

Effect of recombinant human growth hormone therapy on postoperative lipid metabolism in children with craniopharyngioma

hrp0098p2-381 | Late Breaking

A Novel and Validated Noninvasive Method for Determining the Onset of Biochemical Puberty and Predicting Imminent Clinical Puberty

hrp0098p2-382 | Late Breaking

Testosterone Replacement Therapy in adolescents and young adults with Prader-Willi Syndrome: Efficacy and effects on behaviour

hrp0098p2-383 | Late Breaking

Transcriptome Analysis of Adult Females Previously Affected by Central Precocious Puberty due to DLK1 Mutations

hrp0098p2-384 | Late Breaking

Incidence study of central precocious puberty in the population of goiás-brazil: the covid-19 pandemic has changed epidemiology.

hrp0098p2-385 | Late Breaking

Integrating Genetic Testing in the Evaluation of Boys with Central Precocious Puberty: A Portuguese Nationwide Study

hrp0098p2-386 | Late Breaking

Insulin resistance is frequent in non-obese adolescent girls with irregular menstruation and/or clinical hyperandrogenism

hrp0098p2-387 | Late Breaking

Development and validation of central precocious puberty diagnostic prediction models in girls based on machine learning

hrp0098p2-388 | Late Breaking

IRS-1 as a key point in the regulation of insulin-sensitivity in granulosa cells from PCOS women.

hrp0098p2-389 | Late Breaking

A comprehensive overview of the changes in IGF system peptides in the follicular fluid (FF) of women with Polycystic Ovarian Syndrome (PCOS) and their relationships with BMI and HMGB1

hrp0098p2-390 | Late Breaking

Histological Progression and Malignancy Risk in 17β-Hydroxysteroid Dehydrogenase Type 3 Deficiency: Insights from Infancy to Adulthood

hrp0098p2-391 | Late Breaking

QT Interval Dynamics in Transgender/Gender diverse Adolescents on GnRHa and Gender-Affirming Hormonal Therapy: A Comparative Analysis

hrp0098p2-392 | Late Breaking

Identification of Three Novel PPP1R12A Variants From Whole Genome Sequencing in Individuals with Differences of Sex Development (DSD)

hrp0098p2-393 | Late Breaking

Transcriptomic analysis of peripheral blood mononuclear cells reveals immune and metabolic pathways associated with both puberty-blockade and gender-affirming sex hormone therapy in young transgender individuals

hrp0098p2-394 | Late Breaking

Identification of GNAS somatic variants in whole blood dna from patients with ovarian-origin peripheral precocious puberty using droplet digital pcr

hrp0098p2-395 | Late Breaking

Development of Age-Adapted Modules for Standardized Clinical Data Collection in individuals with Klinefelter Syndrome

hrp0098p2-396 | Late Breaking

Study of Novel Genetic Etiologies for Ovarian Dysgenesis reveals high prevalence of pathogenic variants in DNA damage response genes.

hrp0098p2-397 | Late Breaking

The molecular genetic etiology of POI in non-Turner syndrome girls diagnosed in childhood or adolescence: A single-center experience

hrp0098p2-398 | Late Breaking

Orbital myositis revealing TRAb negative Graves’ disease: an exceptional situation

hrp0098p2-399 | Late Breaking

Mutations in THRB gene are associated with combined congenital hypothyroidism and TSH resistance.

hrp0098p2-400 | Late Breaking

Children's Thyroid Health: Impact and Recovery Patterns

hrp0098p2-401 | Late Breaking

Euthyroid graves’ ophtalmopathy in an adolescent sero-negative for TSH receptor autoantibody: a case report

hrp0098p2-402 | Late Breaking

Evaluation of clinical characteristics and genotype-phenotype correlation of resistance to thyroid hormone receptor Beta (RTHβ) due to THRβ gene mutations

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