ESPE Abstracts

ESPE Abstracts

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57th Annual ESPE (ESPE 2018)

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Poster Presentations

Growth & Syndromes P1

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GH & IGFs P3
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Growth & Syndromes P2

hrp0089p1-p159 | Growth & Syndromes P1 | ESPE2018

Does X-Chromosome Gene Dosage Determine Growth and Phenotypic Features in Turner Syndrome with 45,X/46,XX Mosaicism on Standard Karyotyping? A Cross-Sectional Analysis of the French National Rare Disease Network Database

Fiot Elodie , Zenaty Delphine , Pick Paul , Boizeau Patricia , Haignere Jeremy , Dos Santos Sophie , Christin-Maitre Sophie , Carel Jean-Claude , Leger Juliane , Turner Syndrome Study Group French

Background: Turner Syndrome (TS) with a 45,X phenotype is generally more severe than TS with mosaicism, but the potential role of the degree of mosaicism in modulating TS phenotype has never been investigated. We assessed the impact of various degrees of 45,X/ 46,XX mosaicism on phenotypic features in a cohort of TS patients.Method: We analysed a cohort of TS with 45,X/ 46,XX mosaicism (percentage mosaicism from peripheral blood lymphocytes, known in <em...
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hrp0089p1-p160 | Growth &amp; Syndromes P1 | ESPE2018

Abstract withdrawn....
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hrp0089p1-p161 | Growth &amp; Syndromes P1 | ESPE2018

Analysis of Osteoblats Precursors in Girls with Turner Syndrome

Brunetti Giacomina , Chiarito Mariangela , Piacente Laura , Aceto Gabriella , Colucci Silvia , Colaianni Graziana , Grano Maria , D'Amato Gabriele , Felicia Faienza Maria

Background and aim: Subjects with Turner Syndrome (TS) show low cortical bone mineral density (BMD), osteoporosis and risk of fractures. Previously, we demonstrated the enhanced spontaneous osteoclastogenesis in girls and young women with TS before and after pubertal induction with hormonal replacement therapy (HRT). The bone resorption observed in girls before puberty induction seems to be supported by the high FSH serum levels observed at prepubertal stage, while in young wo...
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hrp0089p1-p162 | Growth &amp; Syndromes P1 | ESPE2018

Comparing the Cumulative Dose of Growth Hormone Therapy Using Body Weight-Based Dosing Versus Body Surface Area-Based Dosing in Children with Turner Syndrome – Data from the ANSWER Study

Backeljauw Philippe , Geffner Mitchell , Ross Judith , Holot Natalia , Ostrow Vlady

Background and Objective: The American Norditropin Studies: Web-Enabled Research (ANSWER) Program is a long-term, US-based, non-interventional study designed to collect information on the effectiveness and safety of Norditropin® growth hormone (GH). From June 2002 to September 2016, 20,204 pediatric patients were enrolled by their treating physicians, including 1,003 patients with Turner syndrome (TS). This analysis compares cumulative GH doses when adjusting G...
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hrp0089p1-p163 | Growth &amp; Syndromes P1 | ESPE2018

The Association between Growth Hormone Dose and Short-Term Height Outcomes in a Large Cohort of Paediatric Patients with Turner Syndrome: Real-World Data from the NordiNet® International Outcome Study (IOS) and ANSWER Program

Blair Jo , Rohrer Tilman R. , Tonnes Pedersen Birgitte , Roehrich Sebastian , Backeljauw Philippe

Objectives: The recently updated clinical practice guidelines for Turner syndrome (TS) recommend a growth hormone (GH) dose of 45–50 μg/kg/day, increasing to 68 μg/kg/day in case adult height potential is substantially compromised (1). Real-world data on the modifiable factors impacting near-adult height in GH-treated TS patients are limited, but short-term responsiveness to GH has been suggested as one factor (2). We, therefore, analysed the impact of GH dose o...
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hrp0089p1-p164 | Growth &amp; Syndromes P1 | ESPE2018

Changing Patterns of Growth in Prader-Willi Syndrome

Irene Neophytou Georgia , Frixou Mikaela , Guftar Shaikh M. , Kyriakou Andreas

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...
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hrp0089p1-p165 | Growth &amp; Syndromes P1 | ESPE2018

Sleep-Disordered Breathing in Children with Prader-Willi Syndrome in relation to Growth Hormone Therapy Onset

Zimmermann Maja , Laemmer Constance , Woelfle Joachim , Goihlke Bettina

Context: Prader-Willi syndrome (PWS) is a multisystemic complex genetic disorder. Individuals with PWS are at risk to develop sleep-disordered breathing, including obstructive and central sleep apnea syndromes. PWS patients commonly receive Growth hormone (GH) treatment. Concerns have been raised following reports of sudden death shortly after GH initiation. During recent years GH treatment was increasingly initiated earlier – commencing treatment already during the first...
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hrp0089p1-p166 | Growth &amp; Syndromes P1 | ESPE2018

Safety and Effectiveness of Growth Hormone Treatment in Patients with Prader-Willi Syndrome under 2 Years of Age in a Reference Hospital

Corripio Raquel , Tubau Carla , Cahis Nuria , Perez Jacobo , Rivera Josefa , Gabau Elisabeth

Introduction: Growth hormone (GH) treatment was approved in 2000 for patients with Prader-Willi syndrome (PWS). The main reason for its use was the improvement in body composition. As a result of 2 fatal episodes, it was decided to initiate it from 2 years of age arbitrarily. Average age of real start: 4-6years. GH per se is not a risk factor for mortality in PWS. The 2013 guideline recommends to star it as soon as possible, preferably under 2 years of age, when obesity is est...
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hrp0089p1-p167 | Growth &amp; Syndromes P1 | ESPE2018

Improved Mental and Motor Development During 3 Years of GH Treatment in Very Young Children with Prader-Willi Syndrome

Donze Stephany , Damen Layla , Mahabier Eva , Hokken-Koelega Anita

Context: Infants and toddlers with Prader-Willi Syndrome (PWS) have a mental and motor developmental delay. Short-term data suggest a positive effect of growth hormone (GH) on mental and motor development in infants and children with PWS. There are, however, no longer-term results about the effects of GH treatment on mental and motor development.Objective: To investigate the longer-term effects of GH on psychomotor development in infants and toddlers wit...
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hrp0089p1-p168 | Growth &amp; Syndromes P1 | ESPE2018

GH Response to GHRH and Arginine in Previously GH-Treated Young Adults with Prader-Willi Syndrome

Donze Stephany , Damen Layla , Hokken-Koelega Anita

Context: Some of the features of subjects with Prader-Willi syndrome (PWS) resemble those seen in subjects with growth hormone deficiency (GHD). Children with PWS are treated with long-term growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS have to stop GH treatment after attainment of adult height when they do not have adult GHD. Limited information is available about the prevalence of adult GHD in patients with PWS.<p c...
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hrp0089p1-p169 | Growth &amp; Syndromes P1 | ESPE2018

A Novel Type of Pubertal Height, Weight, and BMI Reference, Aligned for Onset of Puberty

Albertsson-Wikland Kerstin , Niklasson Aimon , Gelander Lars , Holmgren Anton , Aronson Stefan , Sjoberg Agneta , Lissner Lauren

Context: Specific references for height, weight and BMI that consider the maturation tempo for onset of puberty are lacking worldwide.Aim: To fill the gap, by developing specific pubertal references for heightSDS, weightSDS and BMISDS, all aligned for the individual onset of puberty.Method: Reference population: a subgroup of GrowUp1990Gothenburg cohort of 1572 (763 girls) health...
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hrp0089p1-p170 | Growth &amp; Syndromes P1 | ESPE2018

Evaluating Cut-offs for Automatic Growth Screening in Swedish Children – Using the Finnish Growth Monitoring Algorithm

Gelander Lars , Niklasson Aimon , Holmgren Anton , Saari Antti , Dunkel Leo , Albertsson-Wikland Kerstin

Background: Growth charts provide excellent help to the pediatric team in identifying abnormal growth patterns. However, the evaluation is highly dependent on the skills of the clinician. A computerized automatic screening system will add quality and patient safety in finding children with disorders affecting growth. Such screening system has been developed and tested in Finland and resulted in earlier detection of growth disorders1-3.Aim: To ...
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hrp0089p1-p171 | Growth &amp; Syndromes P1 | ESPE2018

Prospective Study of Growth in Swedish Children Treated with Modified Ketogenic Diet

Svedlund Anna , Hallbook Tove , Magnusson Per , Dahlgren Jovanna , Swolin-Eide Diana

Purpose: Modified ketogenic diet (MKD) is one treatment option for intractable epilepsy and metabolic conditions such as glucose transporter type 1 deficiency syndrome (GLUT1-DS) and pyruvate dehydrogenase complex (PDC) deficiency. MKD is a less restrictive diet than the classical ketogenic diet (KD) and thus more tolerable. Some studies indicate that prolonged KD treatment can negatively affect linear growth in children. Long-term data is missing regarding the effects of MKD ...
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hrp0089p1-p172 | Growth &amp; Syndromes P1 | ESPE2018

Early Gut Microbiota and childhood Growth

Schei Kasper , Salamati Saideh , Juliusson Petur Benedikt , Oien Torbjorn , Rudi Knut , Odegard Ronnaug Astri

Introduction: Physical growth according to genetic potential is a hallmark of childhood health [1]. Childhood growth is complex and the physiological processes involved in promoting healthy growth are not fully understood, including the gut microbiota. The gut microbiota matures from birth towards adulthood, and this process might be affected by several factors, including mode of delivery, food intake and antibiotic treatment. The bacterial gut microbiota is observed to be mor...
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hrp0089p1-p173 | Growth &amp; Syndromes P1 | ESPE2018

Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

Gkourogianni Alexandra , Segerlund Emma , Hallgrimsdottir Sigrun , Nilsson Ola , Stattin Eva-Lena

Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...
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hrp0089p1-p174 | Growth &amp; Syndromes P1 | ESPE2018

Identification of ADAMTS6 as a Novel Candidate Gene for Idiopathic Short Stature with Advanced Bone Maturation

Warman Diana M , Ramirez Pablo , Marino Roxana , Garrido Natalia Perez , Touzon Maria Sol , Pentreath Matias Pujana , Mattone Maria Celeste , Rivarola Marco , Belgorosky Alicia

Aggrecan (ACAN) is the major proteoglycan in the articular cartilage, critical for the structure and function of growth plate cartilage.Case Report: 11-year-old (y) boy admitted at 1.8 y of chronological age (CA), due to poor growth rate Height (H): 76 cm (−2.75 SDS). Initial physical examination: mild dysmorphic features and prepubertal external genitalia (two scrotal testes, 1 cc volume each). Neurologic maturation was normal. Initial bo...
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hrp0089p1-p175 | Growth &amp; Syndromes P1 | ESPE2018

Dual Function of the Retinoic Acid Catabolizing Enzyme CYP26C1 – Underlying Idiopathic Short Stature and Modifying Disease Severity in SHOX Deficiency

Montalbano Antonino , Juergensen Lonny , Fukami Maki , Thiel Christian T , Hauer Nadine H , Fricke-Otto Susanne , Binder Gerhard , Naiki Y , Ogata Tsutomu , Hassel David , Rappold Gudrun A

Short stature is diagnosed when height is significantly below the average of the general population for that person’s age and sex. To elucidate the factors that modify disease severity/penetrance in short stature, we have studied a three-generation family with SHOX deficiency. We have found that the retinoic acid degrading enzyme CYP26C1 is a modifier for SHOX deficiency phenotypes towards the more severe clinical manifestations (Leri-Weill dyschondrosteosis) and confirme...
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hrp0089p1-p176 | Growth &amp; Syndromes P1 | ESPE2018

Growth Plate Disorders are the Main Cause of Severe Familiar Short Stature in Children Classified and Treated with Growth Hormone as SGA or GHD

Plachy Lukaš , Strakova Veronika , Elblova Lenka , Dušatkova Petra , Obermannova Barbora , Šnajderova Marta , Kolouškova Stanislava , Zemkova Dana , Šumnik Zdeněk , Lebl Jan , Průhova Štěpanka

Introduction: Familiar short stature (FSS) is a common variant of growth with heterogeneous etiology. Children with FSS are often excluded from further check-up and treatment. However, significant number of children with FSS comply even with the European criteria for growth hormone (GH) therapy – patients with SHOX-deficiency, growth hormone deficiency (GHD) or these born short for gestational age (SGA). The aim of the study was to identify genetic etiology of short statu...
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hrp0089p1-p177 | Growth &amp; Syndromes P1 | ESPE2018

Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature

Homma Thais , Freire Bruna , Ronjo Rachel , Dauber Andrew , Funari Mariana , Lerario Antonio , Arnhold Ivo , Canton Ana , Sugayama Sofia , Bertola Debora , Kim Chong , Malaquias Alexsandra , Jorge Alexander

Background: Patients born small for gestational age (SGA) with additional syndromic features to short stature are likely to present with genetic causes.Aim: To perform a clinical and genetic-molecular investigation of a group of syndromic SGA patients without catch-up growth.Methods: We selected 118 patients born SGA [birth weight and/or length standard deviation score (SDS) ≤−2 for gestational age] without catch-up gro...
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hrp0089p1-p178 | Growth &amp; Syndromes P1 | ESPE2018

Identification of Three Novel Mutations in 10 Pediatric Patients with Unexplained Syndromic Short Stature Identified by Targeted Exome Sequencing in Korea

Kun Cheon Chong , Kim Yoo-Mi

Objectives: Owing to the tremendous advances in next-generation sequencing technology, numerous monogenic causes of growth disorders have been identified. Identifying novel rare genetic causes of short stature (SS) is quite challenging. In 2017, we reported a mutation analysis of 15 patients with undiagnosed syndromic SS or overgrowth. In this study, 6 mutations in another 10 Korean patients with unexplained syndromic SS are reported. The aim of this study is ...
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hrp0089p1-p179 | Growth &amp; Syndromes P1 | ESPE2018

Beckwith Wiedemann Syndrome: First International Consensus Regarding Diagnosis and Clinical Management

Brioude Frederic , Kalish Jennifer M. , Mussa Alessandro , C. Foster Alison , Bliek Jet , Ferrero Giovanni B. , Boonen Susanne E. , Baker Robert , Bertoletti Monica , Cocchi Guido , Coze Carole , Pellegrin Maurizio De , Hussain Khalid , Krajewska-Walasek Malgorzata , Kratz Christian P. , Bouc Yves Le , Maas Saskia M. , Ounap Katrin , Peruzzi Licia , Rossignol Sylvie , Russo Silvia , Shipster Caroleen , Skorka Agata , Tatton-Brown Katrina , Tenorio Jair , Tortora Chiara , Gronskov Karen , Netchine Irene , Hennekam Raoul C. , Prawitt Dirk , Tumer Zeynep , Eggermann Thomas , Mackay Deborah J. G. , Riccio Andrea , Maher Eamonn R.

Beckwith Wiedemann syndrome (BWS) is a rare overgrowth disorder characterised by macroglossia, exomphalos, lateralised overgrowth, organomegaly, hyperinsulinism, and an increased risk of embryonic tumor during early life. In about 80% of BWS cases, molecular defects are identified at the imprinted 11p15.5 region which contains the IGF2 and the CDKN1C genes (most patients show methylation defects at either imprinting control region IC1 or IC2, or paternal unip...
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hrp0089p1-p180 | Growth &amp; Syndromes P1 | ESPE2018

Silver Russell and Beckwith-Wiedemann Syndromes: Mosaic Distribution of Epigenetic Anomalies

Pham Aurelie , Giabicani Eloise , Steunou Virginie , Netchine Irene , Brioude Frederic

Background: Genomic imprinting is an epigenetic mechanism referring to the monoallelic silencing of genes according to their parental origin. Human chromosome 11p15.5 encompasses two imprinted domains (ICR1 and ICR2) playing an important role in controlling fetal and postnatal growth. Genetic (uniparental disomy or gain/loss of function mutations) or epigenetic alterations at the 11p15.5 imprinted region (loss or gain of DNA methylation) are associated with two clinical disord...
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hrp0089p1-p181 | Growth &amp; Syndromes P1 | ESPE2018

Long Term Effects of Childhood Growth Hormone Treatment on Height and Body Mass Index in Adolescents and Adults with Silver-Russell Syndrome

Lokulo-Sodipe Oluwakemi , Canton Ana P. M. , Giabicani Eloise , Ferrand Nawfel , Child Jenny , Wakeling Emma L. , Binder Gerhard , Netchine Irene , Mackay Deborah J.G. , Inskip Hazel M. , Byrne Christopher D. , Davies Justin H. , Temple I. Karen

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...
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hrp0089p1-p182 | Growth &amp; Syndromes P1 | ESPE2018

Year-one Effectiveness and Overall Safety of NutropinAq® for Growth Hormone Deficiency (GHD) and Other Paediatric Growth Disorders: Completion of the International Cooperative Growth Study (iNCGS) European Registry

Coutant Regis , Munoz Jordi Bosch , Dumitrescu Cristina , Schnabel Dirk , Sert Caroline , Perrot Valerie , Dattani Mehul

Background: The iNCGS Registry monitored long-term safety and effectiveness of NutropinAq® (Somatropin injection) for paediatric growth disorders.Objective: To report year-1 effectiveness and safety data from the iNCGS registry (NCT00455728).Methods: Open-label, non-interventional, post-marketing surveillance study, in seven European countries from October 2005–December 2016. Measurements included height Standa...
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hrp0089p1-p183 | Growth &amp; Syndromes P1 | ESPE2018

Carriers of IGF1-receptor Mutations As A Subgroup of SGA Patients: A Comprehensive Retrospective Comparison of Response to rhGH Treatment and Health Profile

Gopel Eric , Klammt Jurgen , Rockstroh Denise , Pfaffle Heike , Schlicke Marina , Bechtold-Dalla Pozza Susanne , Gannage-Yared Marie-Helene , Gucev Zoran , Mohn Angelika , Harmel Eva-Maria , Volkmann Julia , Bogatsch Holger , Beger Christoph , Gausche Ruth , Weihrauch-Bluher Susann , Pfaffle Roland

Objective: IGF-1 receptor mutations (IGF1RM) are a rare abnormality; however, affected patients exhibit severe postnatal growth retardations without catch-up growth. Although several cases of IGF1RM have been described, a comprehensive retrospective analysis of the potential benefit of rhGH treatment is still missing. The aim of this study was therefore to investigate baseline auxology, response to rhGH therapy and potential metabolic effects in patients with IGF1RM in compari...
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hrp0089p1-p184 | Growth &amp; Syndromes P1 | ESPE2018

Characteristics, Effectiveness and Safety Data for Patients with Growth Failure Treated with Recombinant IGF-I (rhIGF-I) and Achieving Adult or Near-adult Height (AH): Results from the European Increlex® Growth Forum Database (EU-IGFD) Registry

Polak Michel , Woelfle Joachim , Perrot Valerie , Sert Caroline , Bang Peter

Background: The EU-IGFD registry comprises data for children with severe primary IGF-I deficiency (SPIGFD) receiving rhIGF-I (mecasermin [rDNA origin] injection; Increlex®) for growth failure.Objective: To report patient characteristics, effectiveness and safety data for children receiving rhIGF-I for SPIGFD and achieving AH.Methods: Patients from this ongoing observational study (NCT00903110) were included in analy...
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hrp0089p1-p185 | Growth &amp; Syndromes P1 | ESPE2018

Growth Outcome in Girls with Idiopathic Central Precocious Puberty Treated with Gonadotropin-releasing Hormone Agonist

Sang Lee Hae , Hwang Jin Soon

Objective: Gonadotropin-releasing hormone agonists (GnRHa) are the treatment of choice for central precocious puberty (CPP) and have been widely used for decades. We determined the effect of GnRHa treatment on auxological outcomes of girls with idiopathic CPP.Methods: This study included 84 girls treated monthly with depot leuprolide acetate who had reached adult height. We compared their final adult height (FAH) with their initial predicted adult height...
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hrp0089p1-p186 | Growth &amp; Syndromes P1 | ESPE2018

Maternal Uniparental Disomy for Chromosome 20: Physical and Endocrinological Characteristics of Six Patients

Kawashima Sayaka , Nakamura Akie , Inoue Takanobu , Matsubara Keiko , Horikawa Reiko , Wakui Keiko , Takano Kyoko , Fukushima Yoshimitsu , Tatematsu Toshi , Mizuno Seiji , Tsubaki Junko , Kure Shigeo , Matsubara Yoichi , Ogata Tsutomu , Nagasaki Keisuke , Fukami Maki , Kagami Masayo

Context: Maternal uniparental disomy for chromosome 20 (UPD(20)mat) resulting in aberrant expression of imprinted transcripts at the GNAS locus is a poorly characterized condition. Only 10 non-mosaic cases have been studied clinically. These patients presented with pre- and post-natal growth failure and feeding difficulties. The phenotype of these cases overlapped with that of Silver-Russell syndrome (SRS) and small for gestational age-short stature (SGA-SS); however, the etio...
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hrp0089p1-p187 | Growth &amp; Syndromes P1 | ESPE2018

A Novel Deadly Variant in the TP53 Gene Causing Li-Fraumeni Syndrome. The Importance of Clinical Awareness and the Contribution of Molecular Diagnosis in Active Prevention Within Families with Multiple Tumor Incidents at a Young Age

Bothou Christina , Spyridis Georgios P , Papantonatos Dionysios A , Stratakis Constantine A , Papadimitriou Dimitrios T

Background: Li-Fraumeni Syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline pathogenic variants in in the TP53 gene and high risk of a broad range of early-onset malignancies. The 70-77% of LFS associated tumors are: breast cancer, soft-tissue sarcoma, brain tumor, osteosarcoma and adrenocortical carcinoma. However, ovarian, pancreatic and gastrointestinal track tumors are also LFS-related. The patients with LFS are at risk for a second ...
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hrp0089p1-p188 | Growth &amp; Syndromes P1 | ESPE2018

Mutations in SHOX, GHR and IGFALS Genes Among Indian Children with ‘Idiopathic Short Stature’

Kumar Anil , Jain Vandana

Background: Linear growth is a multifactorial trait.Short children in whom no definite etiology is found after thorough evaluation are considered to have idiopathic short stature (ISS). A proportion of these children have a monogenic basis of short stature.Aim: To study the prevalence of mutations or pathogenic variants in SHOX, GHR and IGFALS genes among Indian children with ISS.Methods: Children aged 4&...
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