ESPE Abstracts

ESPE Abstracts

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Previous issue | Volume 95 | ESPE2022 | Next issue

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sept 2022 - 17 Sept 2022

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The 60th ESPE Annual Meeting will now be taking place in Rome, Italy.

Poster Category 1

Growth and Syndromes

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GH and IGFs
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Multisystem Endocrine Disorders

hrp0095p1-107 | Growth and Syndromes

Identifying several patient-related factors that predicted permanent growth hormone deficiency (GHD)

hrp0095p1-108 | Growth and Syndromes

Efficacy, Observer-Reported Outcomes, and Safety of Once-Weekly Somapacitan in Children with Growth Hormone Deficiency (GHD): 4-Year Results from the REAL 3 Trial

hrp0095p1-109 | Growth and Syndromes

Efficiency of The Genetic Study in the Assessment of Short Stature in Pediatrics

hrp0095p1-110 | Growth and Syndromes

Characterisation of the first heterozygous missense HMGA2 variant helps delineate the crucial functional roles of a novel growth gene

hrp0095p1-111 | Growth and Syndromes

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

hrp0095p1-112 | Growth and Syndromes

Long-term follow-up of aromatase-inhibitor use in 3 family members with aromatase excess syndrome

hrp0095p1-113 | Growth and Syndromes

Development and testing of a novel ‘GrowthMonitor’ Smartphone App for growth monitoring and the detection of growth disorders

hrp0095p1-114 | Growth and Syndromes

Metabolic Status in Prepubertal and Pubertal Children with Turner Syndrome

hrp0095p1-115 | Growth and Syndromes

Validation of referral criteria for growth monitoring in Flanders based on height at the start of GH therapy in children with growth hormone deficiency and Turner syndrome

hrp0095p1-116 | Growth and Syndromes

Clinical and biochemical parameters of puberty onset in children with Silver Russell syndrome and children born small for gestational age

hrp0095p1-117 | Growth and Syndromes

The elevated levels of Fetuin-A and FGF21 are correlated with metabolic indicators in Turner syndrome

hrp0095p1-118 | Growth and Syndromes

A background review of several generic patient-reported outcome and clinician-reported outcome measures: Selecting measures for further evaluation in a qualitative study in achondroplasia.

hrp0095p1-119 | Growth and Syndromes

Post-hoc subgroup analysis of Asian subjects from the pivotal phase 3 study of once-weekly somatrogon vs once-daily Genotropin

hrp0095p1-120 | Growth and Syndromes

Mosaic sex chromosomal abnormalities in male individuals with short stature: a new role for non-conventional techniques (whole exome sequencing, genome wide array analysis, SHOX MLPA) in making the genetic diagnosis

hrp0095p1-121 | Growth and Syndromes

Qatar National standards for newborn weight, length, and Abdominal and Head Circumference by gestational age and sex: A part of the Newborn Cross-Sectional Study of the INTERGROWTH-21st Project

hrp0095p1-122 | Growth and Syndromes

A Case of Derivative Chromosome 1 Accompanied by Y Chromosome Deletion

hrp0095p1-123 | Growth and Syndromes

Single center analysis of the characteristics of 24-hour ambulatory blood pressure and related factors in patients with Turner syndrome

hrp0095p1-124 | Growth and Syndromes

Analysis of Clinical Features and Causative Genes in 48 Children with Short Stature of Unknown Etiology

hrp0095p1-125 | Growth and Syndromes

SHOX gene deletion as part of a contiguous gene syndrome at Xp22.31p22.33 deletions

hrp0095p1-126 | Growth and Syndromes

Earlier menarche of mothers as a risk factor for daughters’ early age at menarche and short stature in young Korean females: an epidemiologic study

hrp0095p1-127 | Growth and Syndromes

Treatment response to growth hormone in a patient with heterozygous ROR2 mutation

hrp0095p1-128 | Growth and Syndromes

Major opinion about motherhood among women with Turner Syndrome – International online survey

hrp0095p1-129 | Growth and Syndromes

Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

hrp0095p1-130 | Growth and Syndromes

Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome associated with a new COL1A1 variant (c.3235G>A, p.Gly1079Ser) in a girl with severe short stature and neuroblastoma

hrp0095p1-131 | Growth and Syndromes

SHORT syndrome in a twelve-year old boy-case report

hrp0095p1-132 | Growth and Syndromes

The Study of Growth in Thalassemic Patients

hrp0095p1-133 | Growth and Syndromes

Postnatal growth of infants born < 2.5 kg: small for gestational age (SGA) vs appropriate for gestational age (AGA)

hrp0095p1-134 | Growth and Syndromes

Applying personalized medicine- From a unique endo-genetic clinic to a national project of certifying endocrinologists to perform genetic consults and testing

hrp0095p1-305 | Growth and Syndromes

Once-Weekly Somapacitan vs Daily Growth Hormone in Children Born Small for Gestational Age: 1-year Results from a Randomised Phase 2 Trial

hrp0095p1-306 | Growth and Syndromes

Bone age in children with achondroplasia.

hrp0095p1-307 | Growth and Syndromes

A Prospective Clinical Trial of Vosoritide in Hypochondroplasia: Baseline Demographics and Preliminary Results

hrp0095p1-308 | Growth and Syndromes

Postnatal growth failure of aggrecan deficient mice is due to impaired growth plate chondrogenesis

hrp0095p1-309 | Growth and Syndromes

International Standard Growth Charts Overestimates Stunting Prevalence in Indonesia Compared to the Indonesian National Growth Chart

hrp0095p1-310 | Growth and Syndromes

The Prader-Willi phenotype and atypical 15q11.2-q13 deletions

hrp0095p1-311 | Growth and Syndromes

Variability of the Noonan syndrome phenotypic spectrum in four patients carrying novel LZTR1 gene variants

hrp0095p1-312 | Growth and Syndromes

Global Increlex® Registry, post-authorisation surveillance registry monitoring the long-term safety and effectiveness of mecasermin in children and adolescents with Severe Primary IGFD (SPIGFD): objectives and study design

hrp0095p1-313 | Growth and Syndromes

Pathway to assess severe primary IGF-1 deficiency diagnosis in a real-life setting: data from the Global Increlex® Registry

hrp0095p1-314 | Growth and Syndromes

Klinefelter Syndrome: Clinical Spectrum Based on 21 years experience of a Pediatric Endocrinology Unit

hrp0095p1-315 | Growth and Syndromes

A Novel PADI6 Variant as a Cause of Recurrent Miscarriage and Multi Locus Imprinting Disturbance within the same family

hrp0095p1-316 | Growth and Syndromes

Curve matching to predict future growth in patients receiving recombinant human growth hormone: an interpretable and explainable method using big data

hrp0095p1-317 | Growth and Syndromes

Effects of combined treatment with rhIGF-I and metreleptin in a girl with the severe insulin resistance Rabson-Mendenhall syndrom

hrp0095p1-318 | Growth and Syndromes

The molecular study of Ras/MAPK pathway and treatment of short stature in Noonan syndrome

hrp0095p1-319 | Growth and Syndromes

Analysis of trabecular bone score in girls with Turner syndrome

hrp0095p1-320 | Growth and Syndromes

International vs Qatar national growth data for identifying small and large-for-gestational-age newborns: A population-based study in Qatar

hrp0095p1-321 | Growth and Syndromes

A Novel IGF2 Gene Variant of Paternal Origin Causing the Silver-Russell Syndrome Phenotype

hrp0095p1-322 | Growth and Syndromes

Analysis of genetic variability in 134 women with Turner Syndrome using high-throughput next-generation sequencing

hrp0095p1-323 | Growth and Syndromes

Assessment of linear growth and weight gain after early infantile surgical repair of tetralogy of Fallot (TOF)

hrp0095p1-324 | Growth and Syndromes

The diagnosis of aortic dilatation in Chinese children and adolescents with Turner syndrome

hrp0095p1-325 | Growth and Syndromes

ERF mutation in a patient with Noonan-like phenotype, type 1 diabetes mellitus and epilepsy

hrp0095p1-326 | Growth and Syndromes

The relationship of the physical development of erosive gastroesophageal reflux disease in children

hrp0095p1-327 | Growth and Syndromes

A comprehensive assessment of patient-reported outcome measures in children and parents of children with achondroplasia: Results from a qualitative research and mapping exercise.

hrp0095p1-328 | Growth and Syndromes

A real-world study of persistence with daily growth hormone therapy among children with growth hormone deficiency in Japan

hrp0095p1-329 | Growth and Syndromes

Associations between Eating Patterns of Adolescents and Their Height and Weight, A Comparison Between Genders

hrp0095p1-330 | Growth and Syndromes

The JAMP (Journey around Achondroplasia Medicines and Patients) Project: Results Collected From Two Surveys to clinicians and Patients in Italy

hrp0095p1-331 | Growth and Syndromes

Prevalence of Obesity from birth to 3 years of age in infants born large for date (LGA): Infants with weight for age (WAZ) catch down vs those without catch down during the first year of life

hrp0095p1-332 | Growth and Syndromes

Growth Hormone Therapy Experience in a Patient with Hypotonia Cystinuria Syndrome

hrp0095p1-505 | Growth and Syndromes

The effects of one year of growth hormone treatment on growth and body composition in patients with Temple syndrome

hrp0095p1-506 | Growth and Syndromes

A service evaluation on the management of Noonan syndrome in the West of Scotland

hrp0095p1-507 | Growth and Syndromes

Vosoritide Improves Growth in Noonan Syndrome and Patients with NPR2 Mutations

hrp0095p1-508 | Growth and Syndromes

Real-world experience with Vosoritide for achondroplasia: interim findings from an early access programme in France

hrp0095p1-509 | Growth and Syndromes

Breast Satisfaction in adult women with Turner Syndrome – an international survey employing the BREAST-Q questionnaire

hrp0095p1-510 | Growth and Syndromes

Temple syndrome: clinical findings and body composition

hrp0095p1-511 | Growth and Syndromes

Clinical characterization of patients with SHOX variants regarding their functional classification

hrp0095p1-512 | Growth and Syndromes

Physical Activity: An Underestimated Factor in the Management of Arterial Hypertension in Women with Turner-Syndrome?

hrp0095p1-513 | Growth and Syndromes

Long-term effectiveness and safety of childhood growth hormone treatment in Turner syndrome from two large observational studies

hrp0095p1-514 | Growth and Syndromes

Abstract unavailable

hrp0095p1-515 | Growth and Syndromes

Distinct Growth Characteristics in Angelman Syndrome

hrp0095p1-516 | Growth and Syndromes

Ovarian hilus cell hyperplasia: a rare cause of progressive virilization in a girl with Turner syndrome in the absence of Y chromosomal material

hrp0095p1-517 | Growth and Syndromes

Evaluation of Genetic Etiology in Children Born Small for Gestational Age with Persistent Short Stature: Preliminary Results

hrp0095p1-518 | Growth and Syndromes

Variable post-operative growth pattern in infants with transposition of great arteries (TGA) after neonatal arterial switch operation

hrp0095p1-519 | Growth and Syndromes

Learning outcomes of a MOOC supporting healthcare professionals in treating patients with growth disorders

hrp0095p1-520 | Growth and Syndromes

A Case of Familial Short Stature: A Novel Variant of ACAN

hrp0095p1-521 | Growth and Syndromes

Case with Hoxa Gene Cluster Delete

hrp0095p1-522 | Growth and Syndromes

Positive impact of the TuiTek® patient support programme on caregivers of patients receiving treatment for growth hormone deficiency in Argentina

hrp0095p1-523 | Growth and Syndromes

The diagnosis of aortic dilatation in Chinese children and adolescents with Turner syndrome

hrp0095p1-524 | Growth and Syndromes

A Case with Growth and Developmental Retardation: 12q14 Deletion

hrp0095p1-525 | Growth and Syndromes

Growth Hormone IGF-1 axis and treatment with Growth Hormone in PGM1 deficiency

hrp0095p1-526 | Growth and Syndromes

A Case of Short Stature Presenting with Multiple Exocytosis

hrp0095p1-527 | Growth and Syndromes

The Cumulative incidence of SGA, AGA and LGA, Premature, Postmature, and Term birth in infants born between the 33rd weak and the 44th weeks of Gestation in Qatar

hrp0095p1-528 | Growth and Syndromes

The SHOX gene between duplication and deletion: when the follow-up guides the treatment

hrp0095p1-529 | Growth and Syndromes

A case of Silver Russell Syndrome-like phenotype with abnormal methylation of the imprinted GNAS locus (20q13)

hrp0095p1-530 | Growth and Syndromes

Proportions of abnormal growth parameters in extremely low birth weight infants (ELBW) during the first 3 years of life: weight Z score(WAZ), length Z score (LAZ), weight for length Z score (WLZ), and head circumference Z score (HCZ)

hrp0095p1-531 | Growth and Syndromes

Two years of Postnatal linear and head growth of term Infants Born Large for Date (LGA): Those who had infantile Length Z score (LAZ) and/or head circumference Z score (HCZ) catch down vs those without catch down.

hrp0095p1-532 | Growth and Syndromes

Cerebral aneurysms and kidney disease in a child with microcephalic osteodysplastic primordial dwarfism type II: novel homozygous mutation in the PCNT gene.

hrp0095p1-533 | Growth and Syndromes

Central Precocious Puberty in McCune Albright Syndrome: a case report.

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