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57th Annual ESPE

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

GH & IGFs P2

hrp0089p2-p206 | GH & IGFs P2 | ESPE2018

Identification of Three Novel GLI2 Gene Variants Associated with Hypopituitarism

Castro-Feijoo Lidia , Cabanas Paloma , Barreiro Jesus , Silva Paula , Couce M Luz , Pombo Manuel , Loidi Lourdes

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

hrp0089p2-p207 | GH & IGFs P2 | ESPE2018

Clinical and Preliminary Molecular Description of a Cohort of Patients with Growth Retardation due to Severe Primary IGF1 Deficiency (GROWPATI Study)

Stoupa Athanasia , Viaud Magali , Flechtner Isabelle , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Briceno Laura Gabriela Gonzalez , Beltrand Jacques , Netchine Irene , Brioude Frederic , Legendre Marie , Amselem Serge , Polak Michel

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth retardation. Diagnostic criteria include age- and sex-dependent low basal IGF1 levels (<2.5th percentile), height ≤ −3SDS, absence of growth hormone (GH) deficiency and of any secondary causes of growth failure.Objectives: Phenotypic description, follow-up and molecular studies in a cohort of patients diagnosed with growth f...

hrp0089p2-p208 | GH &amp; IGFs P2 | ESPE2018

A Novel, Synonymous, Heterozygous, Splicing Variant Affecting the Intracellular Domain of the Growth Hormone Receptor: Causality for Mild Growth Impairment and IGF-I Deficiency in an Affected Patient?

Efthymiadou Alexandra , Papanastasiou Anastasios , Zarkadis Ioannis , Hwa Vivian , Chrysis Dionysios

Introduction: Although the majority of Growth Hormone insensitivity syndrome (GHIS) cases are classical, the spectrum of clinical phenotypes has expanded to include ‘atypical’ GHIS subjects with milder phenotypes due to very rare heterozygous GHR mutations with dominant negative effects.Case description: A 13 year old pubertal boy was presented with short stature (−1.7SD) and delayed bone age (11 6/12). Final adult height was &#8...

hrp0089p2-p209 | GH &amp; IGFs P2 | ESPE2018

A Novel Mutation of Type I Insulin-like Growth Factor Receptor (IGF1R) Gene in a Severe Short Stature Pedigree Identified by Targeted Next-generation Sequencing (NGS)

Yang Yu , Huang Hui , Li Yang , Xie Liling , Chen Ka , Xiong Ting , Wu Xian

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

hrp0089p2-p210 | GH &amp; IGFs P2 | ESPE2018

Severe Short Stature, Growth Hormone (GH) Deficiency, Hypospadias, and Microcephaly: New Insights into the Role of Chromosome 4 Long Arm Duplication

Haris Basma , Hasnah Reem , Saraswathi Saras , Saeed Amira , Sharari Sanaa , Mohammed Idris , Hussain Khalid

Background: Duplication of the long arm of chromosome 4 has been described in more than 60 patients. The severity and specificity of associated symptoms depend on the size and location of the duplication, and which genes are involved.Reported features include developmental delay, intellectual disability, birth defects, hypotelorism, growth retardation, short neck, dysmorphism, and abnormalities to the extremities.Objective: To report a two-year old child...

hrp0089p2-p211 | GH &amp; IGFs P2 | ESPE2018

Growth Hormone Treatment for Short Stature Associated with TRNT1 Deficiency: A Case Series

Lin Yuezhen

Background: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a newly reported inborn error of metabolism caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs). TRNT1 mutations cause a complex multisystem disease leading to manifestations in most organs. We here described the effect of growth hormone (GH) treatment on short stature in two siblings with TRNT1 deficiency.Case p...

hrp0089p2-p212 | GH &amp; IGFs P2 | ESPE2018

Case Report: Novel Case of Short Stature and Co-occurrence of SHOX Gene Mutation and Fanconi Anemia

Panayiotopoulos Aristotle , Prystowsky Alisha

Case Report: Novel case of short stature and co-occurrence of SHOX gene mutation and Fanconi Anemia. Fanconi anemia (FA) is a rare congenital disorder caused by mutations in any of over 16 documented genes leading to chromosomal fragility. Patients may present with physical manifestations including short stature or upper limb deformities, hematologic manifestations including progressive pancytopenia, or oncologic manifestations including solid tumors. Short stature (>2 SD ...

hrp0089p2-p213 | GH &amp; IGFs P2 | ESPE2018

Different Genetic Causes of Short Stature in a Family

Tulun Alev , Pfaffle Roland , Rockstroh Denise , Jamra Rami Abou , Schmidt Julia , Gillessen-Kaesbach Gabriele , Hoppmann Julia , Hiort Olaf

Background: The most common endocrine cause of growth disorders in childhood is growth hormone deficiency (GHD). The rare monogenic forms of GHD are inherited as autosomal dominant or recessive traits and manifest as isolated deficiency or in combination with other hormone deficiencies. Here, we report on a three-year-old girl with a severe growth retardation (height 77 cm, – 5.6 S.D.S.). She is the only child of non-consanguineous parents from northern Ira...

hrp0089p2-p214 | GH &amp; IGFs P2 | ESPE2018

Incidence of Cranial MRI Abnormalities in Patients with Isolated Growth Hormone Deficiency: 20 Years of Results

Amin Nadia , Biliaieva Kateryna , Mushtaq Talat

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalitiesAim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</p...

hrp0089p2-p215 | GH &amp; IGFs P2 | ESPE2018

Systematic Prospective Study of Eye Funduscopy Before and After Starting Treatment with Growth Hormone in 290 Patients

Eduard Mogas , Nieves Martin , Diego Yeste , Luis Castano , Maria Clemente , Ariadna Campos , Antonio Carrascosa

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

hrp0089p2-p216 | GH &amp; IGFs P2 | ESPE2018

Incidence and Prevalence of GH Deficiency in the Russian Federation – An Analysis of Two Registries

Vorontsova Maria

Background: GH therapy for GH deficient (GHD) children in Russia is fully state funded as part of the ‘Seven high expenditure diseases’ (7HED) federal program. Thus, it is important to thoroughly understand the disorder, including its epidemiology. In Russia, there are two parallel functioning registries: the official federal medical statistics (OFMS) which provides purely statistical information and the 7HED registry which must contain a patient’s data to make ...

hrp0089p2-p217 | GH &amp; IGFs P2 | ESPE2018

The BSPED National GH Audit: Trends in Prescribing from 2013–2016

Patel Leena , Shepherd Sheila , Shaw Nick , Saraff Vrinda

Introduction: Prescribing of recombinant human GH for growth failure in UK children is based on guidance from the National Institute of Clinical Excellence. In 2013, the BSPED initiated this national audit of children/adolescents newly-prescribed GH to monitor trends in NHS prescribing practice. Here we have examined these trends from 2013 to 2016.Patient population: All patients aged ≤16.0 years newly starting GH therapy in the UK.<p class="ab...

hrp0089p2-p218 | GH &amp; IGFs P2 | ESPE2018

The Rationale and Design of TransCon GH

Sprogoe Kennett , Beckert Michael , Mortensen Eva , Karpf David B , Leff Jonathan A

Background: The fundamental challenge of developing a long-acting growth hormone (LAGH) is to create a more convenient growth hormone (GH) dosing profile while retaining the excellent safety, efficacy, and tolerability of daily GH. With GH receptors on virtually all cells, replacement therapy should achieve the same tissue distribution and effects of daily (and endogenous) GH while maintaining levels of GH and resulting IGF1 within the physiologic range....

hrp0089p2-p219 | GH &amp; IGFs P2 | ESPE2018

Baseline Demographics of the TransCon GH Phase 3 heiGHt Trial

Beckert Michael , Karpf David B , Shu Aimee , Lin Zhengning , Leff Jonathan A

Background: TransCon GH is a novel sustained-release recombinant human GH (somatropin) prodrug in development for children with GH deficiency (GHD). It is designed to release unmodified GH and intended to provide comparable efficacy, safety, tolerability, and immunogenicity to daily GH with once-weekly dosing. Based on results from a phase 2 trial, which demonstrated comparable efficacy (annualized height velocity for TransCon 0.21 mg GH/kg per week of 12.9 cm/year vs 11.6 cm/...

hrp0089p2-p220 | GH &amp; IGFs P2 | ESPE2018

The ZOMATRIP Study: Four Year Combination Therapy of GH and GnRHa in Girls with a Short Predicted Adult Height During Early Puberty: Adult Height Outcome

Dotremont Hilde , France Annick , Heinrichs Claudine , Tenoutasse Sylvie , Brachet Cecile , Cools Martine , De Waele Kathleen , Massa Guy , Lebrethon Marie-Christine , Gies Inge , Van Besien Jesse , Derycke Christine , De Schepper Jean , Rooman Raoul

Background: A combination of GH and a gonadotropin releasing hormone analogue (GnRH a) is hypothesized to improve adult height in children with a poor adult height prediction.Study design: In this multicenter study, 24 girls in early puberty (bone age ≤12.0 y),with a predicted adult height ≤151.0 cm and normal body proportions were treated with GH (Zomacton) 50 μg/kg per day and triptorelin (Gonapeptyl) 3.75 mg/month SC or IM (for 4 year...

hrp0089p2-p221 | GH &amp; IGFs P2 | ESPE2018

Growth Hormone Treatment in Children Born Small for Gestational Age (SGA)

Janchevska Aleksandra , Krstevska-Konstantinova Marina , Jordanova Olivera , Tasevska-Rmush Liljana , Tasic Velibor , Gucev Zoran

Introduction: Growth failure is a common consequence in small for gestational age (SGA) children.Patients and methods: The growth patterns and serum insulin like growth factor 1 (IGF1) concentrations before and after the 1st year under GH treatment of 32 short stature SGA born children have been evaluated. In addition, we investigated the insulin like growth factor 1 receptor (IGF1R) exon 2 as a hotspot for IGF1R genetic alterations. It is of note that n...

hrp0089p2-p222 | GH &amp; IGFs P2 | ESPE2018

Height Perception of Children with GH Deficiency: Influencing Factors and Links to Psychosocial Functioning

Drosatou Chrysoula , Vlachopapadopoulou Elpis-Athina , Bullinger Monika , Quitmann Julia , Silva Neuza , Michalacos Stefanos , Tsoumakas Konstantinos

Objectives: The aims of this study were: (1) to evaluate the perception of children with GH Deficiency (GHD) and their parents, regarding their current and future predicted height, as well as the modulating factors; (2) to investigate the relation between perceptions of height and psychosocial functioning in children with GHD.Methods: The study group consists of 322 children/adolescents (219 boys) diagnosed with (isolated) GHD, treated with GH. The mean ...

hrp0089p2-p223 | GH &amp; IGFs P2 | ESPE2018

Health Lifestyle and Obesity of Adult Patients with Congenital Isolated Growth Hormone Deficiency Treated in Childhood

Nun-Yaari Efrat Ben , Kauli Rivka , Lilos Pearl , Laron Zvi

Background: Data on congenital isolated growth hormone deficiency (cIGHD), mostly due to consanguinity, treated in childhood and followed into adult age is very rare and on few patients.Aim: To assess the clinical and social characteristics of adults with cIGHD who were treated in childhood and followed thereafter.Subjects: Thirty nine patients with cIGHD from our clinic were followed into adult age (mean age 30.7±13.3). All w...

hrp0089p2-p224 | GH &amp; IGFs P2 | ESPE2018

Factors Influencing Health Related Quality of Life in Children/Adolescents with GH Deficiency

Drosatou Chrysoula , Vlachopapadopoulou Elpis-Athina , Quitmann Julia , Bullinger Monika , Silva Neuza , Michalacos Stefanos , Tsoumakas Konstantinos

Objectives: To describe the Health Related Quality of life (HrQoL) of children/adolescents with GH Deficiency (GHD) and to examine the effects of sociodemographic (i.e., patients’ age, sex and family socioeconomic status) and clinical characteristics (i.e. degree of short stature and duration of treatment) on HrQoL from patients’ and their parents’ perspectives. Associations between QoLISSY questionnaire and demographics were evaluated using Mann-Whitney or Krus...

hrp0089p2-p225 | GH &amp; IGFs P2 | ESPE2018

Health-Related Quality of Life and Psychosocial Functioning in Young Adults Born SGA after GH/GnRHa Treatment

Goedegebuure Wesley , van der Steen Manouk , de With Justine , Hokken-Koelega Anita

Background: Being born small for gestational age (SGA) has a negative effect on health-related quality of life (HRQoL) and self-perception. This might be more negatively influenced by postponement of puberty using additional gonadotropin-releasing hormone analogue (GnRHa) treatment.Methods: 154 adolescents born SGA participating in a large Dutch growth hormone (GH) trial (75 with 2 years of GnRHa-treatment) completed the TNO-AZL Adults Quality of Life qu...

hrp0089p2-p226 | GH &amp; IGFs P2 | ESPE2018

Adherence to Treatment in Growth Hormone Deficient and Small for Gestational Age Patients Naïve to EasypodTM in Mexico: Final Results of the EasypodTM Connect Observational Study (ECOS)

Blanco-Lopez Armando , Antillon-Ferreira Carlos , Saavedra-Castillo Eloisa , Barrientos-Perez Margarita , Rivero-Escalante Hector , Flores-Caloca Oscar , Calzada-Leon Raul , Celeste Rosas-Guerra Carmen , Koledova Ekaterina , Ayala-Estrada Arturo

Background: The easypodTM auto-injector is designed to make daily administration of recombinant human growth hormone (r-hGH) comfortable and easier to patients. EasypodTM device delivers pre-set doses of r-hGH (Saizen®) and stores a digital record of adherence to therapy that can be shared with healthcare providers for evaluation.Objective: To assess adherence to r-hGH therapy delivered via the easypodTM device in ea...

hrp0089p2-p227 | GH &amp; IGFs P2 | ESPE2018

Growth Pattern and Final Height Outcome in Children with Septo-optic Dysplasia and Isolated Hypopituitarism Treated with rhGH in a Single Centre

Cerbone Manuela , Guemes Maria , Improda Nicola , Dattani Mehul T

Aim: To identify the distinctive features of GH Deficiency (GHD) and to assess the response to GH treatment (rhGH) in children with Septo-Optic-dysplasia (SOD) and Multiple Pituitary Hormone Deficiencies (MPHD).Methods: Retrospective longitudinal single centre study of children with SOD (n:171) and MPHD (n:53). GHD was diagnosed in patients with growth failure by an insufficient GH response (≤6.7 μg/l) to provocation (Insulin Induced Hypoglyca...

hrp0089p2-p228 | GH &amp; IGFs P2 | ESPE2018

Reliability of Clonidine Testing for the Diagnosis of Growth Hormone Deficiency in Children and Adolescents

Ibba Anastasia , Guzzetti Chiara , Casula Letizia , Salerno Mariacarolina , Di Iorgi Natascia , Maria Elsa Allegri Anna , Cappa Marco , Maghnie Mohamad , Loche Sandro

Introduction: The diagnosis of growth hormone deficiency (GHD) is currently based on clinical, auxological, biochemical, and neuro-radiological investigation. Provocative tests of GH secretion using physiological/pharmacological stimuli are required to confirm GHD. The clonidine test (CT) is widely used to assess GH secretory status. In this retrospective study we analyzed the reliability of CT and the effect of puberty in a large number of children with short stature who had ...

hrp0089p2-p229 | GH &amp; IGFs P2 | ESPE2018

Area under the Curve of Growth Hormone, An Additional Tool in Assessing Stimulation Test Results

Yeshayahu Yonatan , Frizinsky Shirly

Introduction: Growth hormone (GH) deficiency is diagnosed through the combination of clinical observation and low GH upon stimulation, in two separate stimulation tests. Normal response is considered as a single rise of GH above the local cutoff point which is used, and differs between countries and range between 7–10 mcg/L. The aim of our study was to assess whether a calculation of area under the curve (AUC) of GH can be used as an additional tool in the diagnosis of GH...

hrp0089p2-p230 | GH &amp; IGFs P2 | ESPE2018

Evaluation of Spontaneous Nocturnal GH Secretion: Noe Versus Two Consecutive Nights

Šimić-Schleicher Gunter

Introduction: GH deficiency may be evaluated by spontaneous nocturnal GH secretion. Usually one night is examined. Since sleep may be disturbed by a new environment, a night to accustom is required by some investigators, which is questioned by others. Thus, we examined spontaneous nocturnal GH secretion during 2 consecutive nights.Methods: 49 girls and 56 boys with suspicion of GH deficiency were examined between 10 pm and 8 am during 2 consecutive night...

hrp0089p2-p231 | GH &amp; IGFs P2 | ESPE2018

Relationship between Growth Velocity and Change of Serum Insulin-Like Growth Factor-1 (IGF-1), Serum IGF Binding Protein-3 (IGFBP-3) Concentrations, and IGFBP-3 Promoter Polymorphism during Gonadotropin-Releasing Hormone Agonist (GnRHa) Treatment

Yang Seung , Suk Shim Young , Tae Hwang Il

Purpose: This study aims to investigate the effect of GnRHa on GH-IGF-1 axis and to evaluate if −202 A/C IGFBP-3 promoter polymorphism affects the growth velocity during treatment on girls with central precocious puberty (CPP).Methods: Data was collected from 97 girls, diagnosed under 9 year of age and treated by GnRHa for at least 1 year in Kangdong Sacred Heart Hospital between 2014–2015. Their body height, weight, Δ Height standard dev...

hrp0089p2-p232 | GH &amp; IGFs P2 | ESPE2018

The Predictive Role of IGF-1 on Irradiation-Dependent Growth Hormone Deficiency (GHD) in Childhood Cancer Survivors (CCS)

Cattoni Alessandro , Albanese Assunta

Background: Conflicting outcomes have been reported about the role of low IGF1 levels in predicting irradiation-dependent GHD in CCS. IGF1 <−2SD had a sensitivity between 28 and 47% in different studies, but these results were drawn from small samples of patients or from mixed cohorts including patients with GHD due to different aetiologies.Objective: Our aim was to analyse the screening role of low IGF1 levels in CCS at risk of developing GHD ...

hrp0089p2-p233 | GH &amp; IGFs P2 | ESPE2018

Effects of Zinc, Magnesium and Vitamin B6 (ZMA) Supplementation on Serum IGF-I, IGFBP-3 and Testosterone Concentrations in Young Athletes

Cerqueira Henrique , Tourinho Filho Hugo , Martinelli Jr Carlos

Background: The GH-IGF system plays an important role in strength gain. Some studies suggest that Zinc, Magnesium and Pyridoxine (ZMA) supplementation could increase GH/IGF and testosterone levels in young subjects. This hypothetical increase could lead to significant changes in body composition. ZMA is a very popular supplement, easily found in specialty stores, and it is presumed to increase GH, IGF-I and testosterone levels. However, studies are divergent regarding its effi...

hrp0089p2-p234 | GH &amp; IGFs P2 | ESPE2018

High Protein Nutritional Supplementation Increases Serum IGF-I Concentrations in Short Children with Low IGF-I

Mattsson Elin , Bang Peter

Background: Milk supplementation increases serum IGF-I concentrations in healthy children and the effect is attributed to elevation of insulin and/or direct effects of milk proteins. Low serum IGF-I concentrations are common among children with short stature and may be associated with GH deficiency but poor nutrition/malabsorption may also contribute. Effects of nutritional supplementation on serum IGF-I is poorly studied in short children.Aim: To invest...

hrp0089p2-p235 | GH &amp; IGFs P2 | ESPE2018

Hormonal Predictors of Growth Hormone Therapy Effectiveness in Children with Short Stature – Evidence from Neural Prediction Model for Final Height

Hilczer Maciej , Smyczynska Joanna , Urszula Smyczynska , Stawerska Renata , Lewinski Andrzej

Prediction of growth hormone (GH) therapy effectiveness in children with short stature is an important issue for optimizing its course. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset, pre-treatment change of height SDS (HSDS V0) and pre-treatment IGF-I and IGFBP-3 secretion but not the results of GH stimulation tests; the...

hrp0089p2-p236 | GH &amp; IGFs P2 | ESPE2018

Artificial Neural Networks for Prediction Final Height in Children with growth Hormone Deficiency

Gavrilova Anna , Nagaeva Elena , Rebrova Olga , Shiryaeva Tatiana , Peterkova Valentina

Background: Mathematical models predicting final height (FH) and its standard deviation score (SDS) in children with growth hormone deficiency is an important tool for clinicians to manage treatment process. Previously developed models do not have enough accuracy or are not good enough for practical use.Objective and hypotheses: We used four binary and seven continuous predictors available at the time of diagnosis and start of therapy and developed multi...

hrp0089p2-p237 | GH &amp; IGFs P2 | ESPE2018

Predictors of Poor Response to Growth Hormone Therapy in Children with Short Stature – Evidence from Neural Prediction Model for Final Height

Smyczynska Joanna , Smyczynska Urszula , Hilczer Maciej , Stawerska Renata , Lewinski Andrzej

Prediction of poor response to growth hormone (GH) therapy in children with short stature is an important issue for personalized approach to treatment. Recently, our research group has published prediction models derived with neural networks. The main predictors of final height (FH) in our model were: patient’s height SDS at therapy onset (H0SDS) and pre-treatment IGF-I and IGFBP-3 concentrations but not the results of GH stimulation tests; pre-treatment growth...

hrp0089p2-p238 | GH &amp; IGFs P2 | ESPE2018

Growth Hormone Therapy and Its Challenges in GH Deficient Cases in a Multinational Population-a Sneak-Peek

Chaturvedi Deepti

Objectives: To identify growth hormone deficiency (GHD) in cases referred for short stature in a multi-national population and evaluate the acceptance, adherence and side effects of GH therapy in these GH deficient cases.Materials and methods: Retrospective analysis was done on all the cases referred for short stature to Pediatric endocrine facility of our hospital from January 2016 to January 2017. GHD was diagnosed on the basis of a GH response <10...