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60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

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

Poster Category 1

Growth and Syndromes

hrp0095p1-107 | Growth and Syndromes | ESPE2022

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

Mericq Veronica , Kariyawasam Dulanjalee , Iñiguez German , Polak Michel

GHD is the most common endocrine disorder in children with short stature (~1 in 4000). Appropriate diagnosis should synthesize auxological, biochemical and neuroradiological data. However, until now there are significant controversies, especially from the laboratory interpretation. A false positive diagnosis can lead to a significant wasted expenditure and unnecessary exposure to rare potential adverse effects. Given these open issues about biochemical diagnosis of GHD in chil...

hrp0095p1-108 | Growth and Syndromes | ESPE2022

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

Sävendahl Lars , Battelino Tadej , Højby Rasmussen Michael , Brod Meryl , Wai Lee Kai , Saenger Paul , Horikawa Reiko

Children with GHD are currently treated with daily subcutaneous growth hormone (GH) injections, which can be burdensome. Somapacitan is a long-acting GH derivative in development for once-weekly use in children with GHD. REAL 3 (NCT02616562) is a phase 2, multinational, randomised, open label, controlled trial assessing efficacy and safety of somapacitan vs daily GH (Norditropin®). Prepubertal, GH-naïve children with GHD received 0.04 (n=16), 0.08 (n</e...

hrp0095p1-109 | Growth and Syndromes | ESPE2022

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

Murillo-Vallés Marta , Ros-Peña Andrea , Valls-Llussà Aina , Herrero-Espinet Javier

Introduction: Short stature is a common disorder in children that can become a challenge for clinical and molecular diagnosis. Recent studies in genetics and the implementation of Next-Generation Sequencing (NGS) in growth disorders have demonstrated the great genetic heterogeneity of short stature and the existence of highly varied phenotypes. The absence of homogeneous clinical criteria for conducting studies makes it difficult to evaluate the efficacy of th...

hrp0095p1-110 | Growth and Syndromes | ESPE2022

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

Cottrell Emily , V. Maharaj Avinaash , Triggs-Raine Barbara , Thanasupawat Thatchawan , Williams Jack , Fujimoto Masanobu , A. Metherell Louise , Hwa Vivian , Klonisch Thomas , Hombach-Klonisch Sabine , L. Storr Helen

Background: Silver Russell syndrome (SRS) is genetically heterogenous and around 30% of patients with clinical SRS have no genetic diagnosis. Mutations in HMGA2 have recently been identified causing growth failure and an SRS-like phenotype. Despite strong evidence of the crucial role of HMGA2 in growth across species, the mechanism of action of HMGA2 in human linear growth is unclear.Objective:...

hrp0095p1-111 | Growth and Syndromes | ESPE2022

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

Andrade Nathalia , Funari Mariana , Malaquias Alexsandra , Collett- Solberg Paulo , Gomes Nathalia , Scalco Renata , Dantas Naiara , Rezende Raissa , Tiburcio Angelica , Souza Micheline , Freire Bruna , Krepischi Ana , Longui Carlos , Lerario Antonio , Arnhold Ivo , Jorge Alexander , Vasques Gabriela

Objective: Most children with short stature remain without an etiologic diagnosis after extensive clinical and laboratory evaluation and are classified as idiopathic short stature (ISS). This study aimed to determine the diagnostic yield of a multigene gene analysis in children classified as ISS.Design and Methods: We selected 102 children with ISS and performed the genetic analysis as part of the initial investigation. ...

hrp0095p1-112 | Growth and Syndromes | ESPE2022

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

Giannopoulou Eleni , Brandt Stephanie , Schmidt Martin , Fukami Maki , Wabitsch Martin

Introduction: Aromatase excess syndrome (AEXS) is a rare, autosomal dominant disorder, characterized by enhanced extraglandular aromatization of androgens and estrogen excess. Genomic rearrangements in chromosome 15q21 are found to result in overexpression of the aromatase gene CYP19A1. In males it is characterized by pre- or peripubertal gynecomastia, hypogonadotropic hypogonadism, advanced bone age and short adult height. Only a few female patients have been...

hrp0095p1-113 | Growth and Syndromes | ESPE2022

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

Thaventhiran Thilipan , Orr Joanna , K. Morris Joan , Harding Vincent , Hsu Ann , Dunkel Leo , Chapple Paul , L. Storr Helen

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at h...

hrp0095p1-114 | Growth and Syndromes | ESPE2022

Metabolic Status in Prepubertal and Pubertal Children with Turner Syndrome

Peskavaya Nadzeya , Solntsava Anzhalika , Akulevich Natallia

Aim: To evaluate the metabolic status in children with Turner syndrome (TS) depending on the Tanner stage (Pre-puberty and puberty).Methods: The total studied group consisted of 85 children with TS from 8 to 17 years, who were regularly followed-up in the University hospital (Minsk) and age matched 72 healthy controls. TS was diagnosed in patients with characteristic phenotypic signs according to the results of karyotypi...

hrp0095p1-115 | Growth and Syndromes | ESPE2022

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

Klink Daniel , Logghe Karl , Thomas Muriel , Roelants Mathieu , Van Hoeck Katelijne , Lysy Philippe , Becker Marianne , Staels Willem , de Schepper Jean

Background/Aims: Length and weight of all children in Flanders are monitored every three years at school from the age of 3 years. The current criteria used for referral to specialized care are: height SDS < -2.5, height SDS between -2 and -2.5 SDS with a height SDS adjusted for parental height < -1.64, or a decrease in height SDS of more than 1 SDS in the past 3 years. The aim of this study is to investigate the sensitivity of the Flemish referral criter...

hrp0095p1-116 | Growth and Syndromes | ESPE2022

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

Patti Giuseppa , Malerba Federica , Scaglione Marco , Schiavone Maurizio , Grazia Calevo Maria , Varotto Carolina , Casalini Emilio , Fava Daniela , Allegri Anna , Napoli Flavia , Di Iorgi Natascia , Maghnie Mohamad

Silver-Russell syndrome (SRS) is a rare heterogeneous syndrome associated with severe prenatal and postnatal growth retardation.Context: There is little information on puberty onset and bone age trend in children with SRS.Study Design and partecipants: Retrospective observational study, including patients with a confirmed diagnosis of SRS divided in 2 molecular groups [ 11p15 loss of methylation, (...

hrp0095p1-117 | Growth and Syndromes | ESPE2022

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

Yao Qian , Chen Ruimin , Yuan Xin , Zhang Ying , Shangguan Huakun , Lin Xiangquan , Yang Xiaohong

Objective: To find the roles of Fetuin-A and FGF21 in metabolic disorders through investigating the correlations between Fetuin-A, FGF21 with metabolic indicators in girls with Turner syndrome (TS).Methods: A cross-sectional study of TS girls ranging from 5 to18 years and age-, body mass index (BMI)- matched healthy girls were recruited from the outpatients in Fuzhou Children’s Hospital of Fujian Medical University...

hrp0095p1-118 | Growth and Syndromes | ESPE2022

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.

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Cho Terry , Lee Anne , H. Colwell Hilary , Rogoff Daniela , Muslimova Elena

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

hrp0095p1-119 | Growth and Syndromes | ESPE2022

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

Gomez Roy , Khadilkar Vaman , Shembalkar Jayashri , Chu Der-Ming , Woo Ko Cheol , Wajnrajch Michael , Wang Ronnie

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with pediatric GH deficiency (GHD). A global phase 3 study compared the efficacy and safety of once-weekly somatrogon with once-daily Genotropin in pediatric subjects with GHD. The objective of this subgroup analysis was to evaluate the efficacy and safety of once-weekly somatrogon vs once-daily Genotropin in the subset of A...

hrp0095p1-120 | Growth and Syndromes | ESPE2022

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

Westra D. , Rinne T.K. , Oud M.S. , Ruiterkamp-Versteeg M.H.A. , de Leeuw N. , van der Velden A.A.E.M. , Kempers M.J.E.

The phenotype in male individuals with a mosaic sex chromosomal abnormality is heterogenous, but ambiguous genitalia, delayed puberty, disturbed spermatogenesis, and short stature are frequently seen. Genetic investigation in boys with idiopathic/isolated short stature usually includes SHOX gene analysis (sequencing and copy number detection by MLPA), genome wide array analysis, and/or whole exome sequencing (WES). In the Netherlands, conventional karyotyping is not part of th...

hrp0095p1-121 | Growth and Syndromes | ESPE2022

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

length , Abdominal and Head Circumference by gestational age and sex: A part of the Newborn Cross-Sectional Study of the INTERGROWTH-21st Project and , Alyafei Fawzia , Soliman Ashraf , Alqubasi Mai , Olukade Tawa , Ali Hamdy , Alturk Mohamed , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: This was a population-based retrospective data analysis. The study was part of the Vulnerable Newborn Study, approved by the Hamad Medical Corporation Institutional Review Board (IRB No MRC-01-21-277).Setting and Participants: The population for this analysis comprised of a 4-year cohort data (January 2016 to December 2019) for births conducted in all HMC hospitals (representing 90% of all births in the cou...

hrp0095p1-122 | Growth and Syndromes | ESPE2022

A Case of Derivative Chromosome 1 Accompanied by Y Chromosome Deletion

Çetinkaya Semra , Görkem Erdoğan Nilay , Esen Senem , Özkaya Dönmez Beyhan , Arasli Yilmaz Aslihan , Elmaoğullari Selin , Okur İclal , Kurnaz Erdal , Savaş Erdeve şenay , Bakir Abdullatif

Introduction: Derivative chromosome is a rearrangement involving two or more chromosomes or the presence of multiple abnormalities in a single chromosome and always contains intact centromere. Segmental anomalies such as inversion or translocation in derivative chromosome may result in partial duplication or deletion during meiosis. Chromosomal translocations usually result in miscarriage and multiple anomalies (common neurodevelopmental defects, growth retard...

hrp0095p1-123 | Growth and Syndromes | ESPE2022

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

Zheng Rujiang , Chen Hongshan , Huang Huiling , Ma Huamei , Li Yanhong , Chen Qiuli , Zhang Jun , Guo Song , Wang Bing , Du Minlian

Background and Objectives: In the patients with Turner syndrome (TS), the risk of hypertension is higher in childhood and adulthood. The aim of the study was to retrospectively analyze 24-hour ambulatory blood pressure monitoring (ABPM) in children and adolescents with TS and its related factors.Materials and Methods: A retrospective study was conducted involving TS patients admitted to our pediatric endocrine specialist...

hrp0095p1-124 | Growth and Syndromes | ESPE2022

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

Hou Lele , Lin Shaofen , Liu Zulin , Ou Hui , Zhang Lina , Huang Siqi , Meng Zhe , Liang Liyang

Objective: To analyze the clinical features and causative genes in children with undiagnosed short stature and study the causative genes in our hospital. Methods Clinical manifestations, laboratory test and whole exome sequencing (WES) results of children with undiagnosed short stature who visited pediatric endocrinology department of our hospital from January 2018 to August 2019 were analyzed retrospectively. Causative genes were classified and analyzed accor...

hrp0095p1-125 | Growth and Syndromes | ESPE2022

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

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , D'aniello Francesco , Bocchini Sarah , Fintini Danilo , Grossi Armando , Cappa Marco , Ubertini Graziamaria

Background: Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (ARSE), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143).Case reports: We report ...

hrp0095p1-126 | Growth and Syndromes | ESPE2022

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

Sub Lim Jung , Hyun Kim Ji

Background: Early age at menarche was associated with obesity, insulin resistance, metabolic syndrome, cardiovascular disease (CVD), and mortality in adulthood. Besides, a mother's age at menarche has been suggested to be a likely contributor to a daughter's early menarche. Therefore, this study aimed to determine whether a mother's earlier age at menarche is a risk factor for a daughter's early menarche, obesity, and short stature in young...

hrp0095p1-127 | Growth and Syndromes | ESPE2022

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

Berna Celik Nur , Sezer Abdullah , Elmaogullari Selin , Savas-Erdeve Senay , Cetinkaya Semra

Introduction: ‘Receptor tyrosine kinase-like orphan receptor 2 (ROR2)’ is a transmembrane protein tyrosine kinase encoded by the ROR2 gene. Pathogenic mutations in ROR2 are involved in two diseases: biallelic loss-of-function mutations in Robinow syndrome and monoallelic gain-of-function mutations in brachydactyly type B1. Recently, monoallelic loss-of-function mutations in ROR2 have been reported as a cause of isolated short stature. Here we repor...

hrp0095p1-128 | Growth and Syndromes | ESPE2022

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

Więcek Małgorzata , Zięba-Domalik Maja , Gawlik Aneta

Context: Turner Syndrome (TS) is associated with ovarian dysgenesis leading to infertility in most of the cases. There are some options for fertility preservation in patients with sufficient follicle numbers. The most recently studied are oocyte preservation and ovarian tissue preservation. Due to premature ovarian failure among TS girls, the procedure should be performed as early as possible.The aim of this study is to ...

hrp0095p1-129 | Growth and Syndromes | ESPE2022

Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

Valls Aina , Ros Andrea , Murillo Marta , Garcia Belen , Martinez Daniel , Maqueda Elena , Berrocal Elena

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...

hrp0095p1-130 | Growth and Syndromes | ESPE2022

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

Letteria Anna Morabito , Elsa Maria Allegri Anna , Paola Capra Anna , Corica Domenico , Capasso Mario , Capra Valeria , Garaventa Alberto , Maghnie Mohamad , Briuglia Silvana , Gabriela Wasniewska Malgorzata

Background: Osteogenesis imperfecta / Ehlers–Danlos (OI/EDS) overlap syndrome is a rare and recently described disorder of connective tissue, characterized by mutation of COL1A1 (17q21.33) or COL1A2 (7q21.3) genes, involved in alpha-1 and alpha-2 chains of type 1 collagen synthesis. Patients with OI/EDS overlap syndrome could show a phenotype characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae, sho...

hrp0095p1-131 | Growth and Syndromes | ESPE2022

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

Priakou Syraina , Smyrnaki Pinelopi , Giatzakis Christoforos , Xekouki Paraskevi , Stratakis Constantine

Background: “SHORT syndrome” is a rare condition and mnemonic for Short stature, Hyperextensibility, Ocular depression, Rieger anomaly and Teething delay. The features most consistently observed in SHORT syndrome are mild intrauterine growth restriction; mild to moderate short stature; partial lipodystrophy; and a characteristic facial gestalt (small chin, triangular shaped face, prominent forehand, abnormal positioning large ears and thin wrinkled...

hrp0095p1-132 | Growth and Syndromes | ESPE2022

The Study of Growth in Thalassemic Patients

Noumi Mustapha , Keddari Malika , Ferhani Yacine , Terrak Rachid , Boukari Rachida

Introduction: β-thalassemia is a chronic hereditary hemolytic anemia characterized by a defect in the synthesis of beta-globin chains, particularly common in the Mediterranean region, southern Asia, and the Middle East. Transfusion programs and chelation therapy have considerably extended the life expectancy of patients. This has led to an increase in the prevalence of complications related to iron overload, growth retardation is extremely common in polyt...

hrp0095p1-133 | Growth and Syndromes | ESPE2022

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

Alyafei Fawzia , Soliman Ashraf , AlYousef Doaa , Shaat Mona , Itani Maya , Ali Hamdy , Alaaraj Nada , Hamed Noor , Ahmed Shayma

We studied anthropometric measures (z scores) from birth to 2 years in 115 infants who were born with birth weight <2.5 kg but > 1.5 kg. They were divided into two groups based on Fenton's preterm growth standards at birth. Group 1 (AGA) with weight z score (WAZ) > -2 (n = 100), and group 2 (SGA) with WAZ < -2 (n = 15). Postnatal growth data were evaluated based on the WHO growth standard without correction for prematurity.<p class="abste...

hrp0095p1-134 | Growth and Syndromes | ESPE2022

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

Shefer Averbuch Noa , Orenstein Naama , Greenberg Rotem , Ben-Shachar Shay , Phillip Moshe

Background: The rapid advancement in understanding molecular mechanisms, and the availability of genetic testing, has led to a paradigm change in many endocrine disorders. Making an accurate diagnosis enables tailored follow-up, treatment, and family genetic counselling. However, a cooperation is required, since the endocrinologist has a more profound understanding of the disorders, but the geneticist is usually better skilled in analyzing genetic results and ...

hrp0095p1-305 | Growth and Syndromes | ESPE2022

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

Juul Anders , Backeljauw Philippe , Bakhtadze Bagci Ekaterine , Højby Michael , Kawai Masanobu , Juul Kildemoes Rasmus , Linglart Agnès , Zuckerman-Levin Nehama , Horikawa Reiko

Treatment of short stature in children born small for gestational age (SGA) requires daily growth hormone (GH) injections that can be burdensome for patients and caregivers. Once-weekly somapacitan is a long-acting GH in phase 3 development for replacement therapy in children with GH deficiency. We report the 52-week results of the first phase 2, multinational, randomised, open-label, controlled, dose-finding trial (NCT03878446) investigating efficacy and safety of somapacitan...

hrp0095p1-306 | Growth and Syndromes | ESPE2022

Bone age in children with achondroplasia.

Savarirayan Ravi , Maria De Bergua Josep , Arundel Paul , Pierre Salles Jean , Leiva-Gea Antonio , Irving Melita , Saraff Vrinda , McDevitt Helen , Nicolino Marc , Cormier-Daire Valerie , Kannu Peter , Skae Mars , B. Bober Michael , Phillips III John , Burren Christine , Harmatz Paul , Saal Howard , Hoover-Fong Julie , Muslimova Elena , Cho Terry , Weng Richard , Rogoff Daniela

Background: Bone age (BA) is commonly used in pediatrics to define skeletal maturity for medical and non-medical purposes. Normal range is represented by 2 standard deviations (SDs) above and below the mean. A BA greater than &pm;2 SDs from the chronological age (CA) is considered abnormal. BA in achondroplasia (ACH) has not been fully characterized; calculation is challenging given difficulties in comparing x-rays with standard radiographs if using the Greuli...

hrp0095p1-307 | Growth and Syndromes | ESPE2022

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

Dauber Andrew , McCarthy Tara , Zhang Anqing , Merchant Nadia , Boucher Kimberly , Dham Niti , Kanakatti Shankar Roopa

Objectives: Vosoritide is a C-type natriuretic peptide analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. It was recently approved for increasing linear growth in children with achondroplasia. This is the first study to examine the safety and efficacy of vosoritide in children with hypochondroplasia.Methods: Th...

hrp0095p1-308 | Growth and Syndromes | ESPE2022

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

Bendre Ameya , Ottosson Lars , Baroncelli Marta , Dou Zelong , Nilsson Ola

Background: Heterozygous Aggrecan (Acan) mutations cause autosomal short stature (ISS) with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (OMIM#165800) in humans. Cartilage matrix deficiency mouse (Acancmd) has a naturally occurring 7 bp micro-deletion in aggrecan gene. Heterozygous Acancmd mice develop postnatal dwarfism with progressing age. However, the underlying cellular and molecular mechanisms causin...

hrp0095p1-309 | Growth and Syndromes | ESPE2022

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

Natalia Hasibuan Susi , M Djer Mulyadi , A Andarie Attika , B Pulungan Aman

Background: Growth problems, such as stunting, are commonly found in daily pediatric practice. Stunting is a significant problem in developing countries, and is part of the Sustainable Development Goals (SDG) Goal 2 of ending hunger. In Indonesia, the rate of stunting in children under 5 years old is still considered high, despite improvement in quality of life due to rapid economic development. The rate of this improvement is unequal throughout the nation, wh...

hrp0095p1-310 | Growth and Syndromes | ESPE2022

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

Grootjen Lionne , Juriaans Alicia , Kerkhof Gerthe , Hokken-Koelega Anita

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of the PWS region (locus q11-q13) on the paternally derived chromosome 15. Either a paternal deletion of the PWS region (50%), a maternal uniparental disomy (mUPD; 43%), an imprinting defect (4.1%) or translocation (<1%) can lead to PWS. Deletions are almost always de novo and manifest either as a large type I or a smaller type II deletion. In more rar...

hrp0095p1-311 | Growth and Syndromes | ESPE2022

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

Meneghin Alice , Mozzato Chiara , Trevisson Eva , Guazzarotti Laura

Noonan syndrome is a genetic condition caused by dysregulation of RAS-MAPK pathway (RASopathy) characterized by great clinical variability and genetic heterogeneity. Many genes has been associated with the disease, including recently LZTR1, which is causative of both dominant and recessive forms. Currently less than one hundred cases of Noonan syndrome has been associated with LZTR1 variants then phenotype related to this gene is poorly known. Here we describ...

hrp0095p1-312 | Growth and Syndromes | ESPE2022

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

Bang Peter , Mazain Sarah , Perrot Valérie , Sert Caroline

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by severe short stature. Replacement therapy with recombinant human IGF-1 (rhIGF-1; mecasermin [Increlex®]) is currently the only available treatment for children/adolescents with SPIGFD. We describe the methodology of the Global Increlex Patient Registry (NCT00903110), designed to monitor long-term safety and effectiveness of meca...

hrp0095p1-313 | Growth and Syndromes | ESPE2022

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

Bang Peter , Polak Michel , Bossowski Artur , De Schepper Jean , Sert Caroline , Perrot Valérie , Woelfle Joachim

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare condition for which replacement therapy with recombinant human insulin-like growth factor-1 (rhIGF 1; mecasermin [Increlex®]) is approved for treatment in Europe and the USA. SPIGFD is defined as a height standard deviation score (HtSDS) ≤-3, and baseline IGF-1 <2.5th percentile (European indication) or ≤-3 SDS (USA indication) for age and gender, desp...

hrp0095p1-314 | Growth and Syndromes | ESPE2022

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

Filipa Pinto Oliveira Joana , Cardoso Sandra , João Oliveira Maria , Freitas Joana , Ribeiro Luís , Mendes Catarina , Borges Teresa

Background and Aims: Klinefelter syndrome (KS) is the most common chromosomal abnormality in men, but because of its highly variable phenotype and clinical unawareness, it remains largely under-diagnosed. Cardinal features include tall stature, gynecomastia, hypergonadotropic hypogonadism, azoospermia and infertility. Learning and behavioral problems are also common. Testosterone replacement therapy (TRT) helps to prevent or ameliorate many of the comorbiditie...

hrp0095p1-315 | Growth and Syndromes | ESPE2022

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

Stern Eve , Goldman Shira , De Franco Elisa , E Flanagan Sarah , Pinhas-Hamiel Orit , Regev Miriam

Background: Genomic imprinting is the process by which preferential methylation of one parental allele results in parent of origin specific expression of particular genes. Methylation is established during gametogenesis and is maintained throughout development. Alterations in any of the processes in the establishment and maintenance of methylation can lead to aberrant imprinting, which can result in either reactivation of the original silent allele or the sile...

hrp0095p1-316 | Growth and Syndromes | ESPE2022

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

van Dommelen Paula , Arnaud Lilian , Koledova Ekaterina

Background: Prediction models demonstrate potential in predicting growth in patients receiving recombinant human growth hormone (r-hGH) for growth disorders. However, considerable information from patients is needed to calculate a predicted growth curve. The curve matching technique only requires height data. This technique identifies growth curves that are similar (matched) among real-world patients within a database. The growth curves of these ‘matched...

hrp0095p1-317 | Growth and Syndromes | ESPE2022

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

Genthner N. , Rakicioglu H. , Karatsiolis P. , Wudy SA , Kamrath C.

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

hrp0095p1-318 | Growth and Syndromes | ESPE2022

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

Castro-Feijóo Lidia , Cabanas Rodríguez Paloma , E Heredia Ramírez Claudia , Martínez Isabel , López Abel Bernardo , Eiris Puñal Jesús , Barros Angueira Francisco , Loidi Lourdes , Barreiro Conde Jesús

Mutations in genes of the RAS/MAPK signalling pathway have been shown to cause several syndromes characterized by dysmorphic features, growth retardation, cognitive impairment, heart disease and cutaneous abnormalities. The GHrh treatment has been used to improve growth in children with Noonan syndrome.Material and methods: 201 cases of patients referred with clinical suspicion of S. Noonan and other RASopathies was studied. Analysis of ...

hrp0095p1-319 | Growth and Syndromes | ESPE2022

Analysis of trabecular bone score in girls with Turner syndrome

Wikiera Beata , Syrycka Joanna , Nocon-Bohusz Julita , Halupczok-Żyła Jowita , Jawiarczyk Aleksandra , Bolanowski Marek , Noczynska Anna

Introduction: Short stature is the most common symptom of Turner Syndrome (TS). The height below the 3rd percentile is an indication for recombinant human growth hormone (rhGH) treatment. TS is also associated with gonadal failure and increased risk of fracture. Spinal trabecular bone score (TBS) is a novel bone imaging tool that can offer better bone evaluation in TS.Aim: To evaluate TBS in TS, its association with rhGH...

hrp0095p1-320 | Growth and Syndromes | ESPE2022

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

Alyafei Fawzia , Soliman Ashraf , Alqubasi Mai , Ali Hamdy , Alturk Mohamed , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Background: To update the ongoing debate about the use of universal strict vs (local) national intrauterine growth charts, we compared the prevalence of small and large-for-gestational-age (SGA/LGA) infants according to international charts and national growth data.Methods: We classified singleton births from 33 to 42 weeks of gestation in 2016 and 2019 from Qatar (n = 92431), SGA (birthweight <10th percentil...

hrp0095p1-321 | Growth and Syndromes | ESPE2022

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

Sarıkaya Özdemir Behiye , Sezer Abdullah , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Silver-Russell syndrome (SRS) is a rare, well-defined genetic disease characterized by intrauterine and postnatal growth retardation, short stature, triangular face, relative macrocephaly and body asymmetry. The most common molecular pathologies are loss of methylation (50%) of the imprinting center in the p15.5 region of the paternal 11th chromosome and maternal uniparental disomy of the 7th chromosome (5-10%). The IGF2 (insulin-like growth fact...

hrp0095p1-322 | Growth and Syndromes | ESPE2022

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

P. Suntharalingham Jenifer , Ishida Miho , Cameron-Pimblett Antoinette , M. McGlacken-Byrne Sinead , Del Valle Ignacio , Buonocore Federica , Brooks Anthony , Kaur Madhan Gaganjit , Genomics Sequencing Facility UCL , S. Conway Gerard , C. Achermann John

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

hrp0095p1-323 | Growth and Syndromes | ESPE2022

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

Soliman Ashraf , Ali Hamdy , Yassen Haytham , Mahmoud Nazla , Itani Maya

The benefits of surgical repair on long term growth in children with tetralogy of Fallot (TOF) have been variable. Surgery undertaken beyond infancy has often been associated with a residual degree of growth impairment. Primary repair of during early infancy was adopted in many centres, if clinically indicated. We examined the effects of full early surgical correction of TOF on linear growth for 2 years postoperatively. Anthropometric data of infants with TOF before and after ...

hrp0095p1-324 | Growth and Syndromes | ESPE2022

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

Wei Su , Longwei Sun , Zhuoguang Li , Xia Liu , Longjiang Zhang , Xiu Zhao , Shumin Fan , Boning Li , Ying Xie , Weiwei Xiao , Zhe Su

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

hrp0095p1-325 | Growth and Syndromes | ESPE2022

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

Schiavariello Concetta , Tamburrino Federica , Piazza Francesca , Perri Annamaria , Maltoni Giulio , Rossi Cesare , Pession Andrea , Mazzanti Laura , Scarano Emanuela

ERF protein is a major binding target of ERK1/2 kinases, key effectors of the RAS–MEK–ERK signaling cascade. ERF has a role as a negative transcriptional regulator of RAS/MAPK mitogenic pathway (1) and, in theory, a loss-of-function mutation (LOF) in ERF could cause a Rasopathy phenotype. To date, LOF variants of ERF have been reported in 45 individuals with craniosynostosis but without a Noonan-like phenotype. There is only one case report describing a patient wit...

hrp0095p1-326 | Growth and Syndromes | ESPE2022

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

Latyshev Dmitry , Lobanov Yuri

The relationship between growth scores and gastroesophageal reflux disease has been extensively studied in the adult population. Single studies conducted in childrenObjective: To study the relationship between anthropometric parameters and erosive gastroesophageal reflux disease in school-age childrenMaterials and methods: 103 children with erosive GERD were included (65 boys, mean age 12.3&pm;2.5 ...

hrp0095p1-327 | Growth and Syndromes | ESPE2022

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

D. Mathias Susan , Hoover-Fong Julie , Savarirayan Ravi , Crews Chandler , Alves Inês , Noval Susan , Haider Amer , Cho Terry , Lee Anne , H. Colwell Hilary , Muslimova Elena

Objectives: Individuals with achondroplasia (ACH) experience medical, emotional and functional detriments during their lifetime. A comprehensive research initiative was conducted to include combined concept elicitation (CE) and cognitive debriefing (CD) interviews and mapping of concepts to identify the most relevant available patient-reported outcome (PRO) measures for inclusion in studies of ACH.Methods: Combined CE/CD...

hrp0095p1-328 | Growth and Syndromes | ESPE2022

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

Loftus Jane , Wogen Jenifer , Benjumea Darrin , Jhingran Priti , Chen Yong , Alvir Jose , Wajnrajch Michael

Background: Paediatric growth hormone deficiency (PGHD) is treated with daily somatropin (recombinant human growth hormone) injections. High rates of discontinuation and poor adherence to treatment, which are associated with worse growth outcomes, have been documented previously, for example in the US and EU. Discontinuation of somatropin has not yet been evaluated using real-world data in Japan.Objectives: To describe d...

hrp0095p1-329 | Growth and Syndromes | ESPE2022

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

Zur Maya , Fisch-Shvalb Naama , Phillip Moshe , Yackobovitch-Gavan Michal

Rationale: Adequate nutrition is essential for normal growth in childhood and adolescence. The high growth rate during adolescence demands high amounts of energy and various nutrients. During puberty, unlike infancy and early childhood, boys and girls of the same age have gender-specific nutritional needs. Our aim was to examine the associations between the dietary intake of male and female adolescents and their anthropometric measures.<...

hrp0095p1-330 | Growth and Syndromes | ESPE2022

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

Antoniazzi Franco , Francesca Bedeschi Maria , Boero Silvio , LidonniciDario , Maghnie Mohamad , MoraStefano , Ravasio Roberto , Scarano Gioacchino , Selicorni Angelo , Sessa Marco , Verdoni Fabio , Zampino Giuseppe

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

hrp0095p1-331 | Growth and Syndromes | ESPE2022

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

Fawzia Alyafei , Ashraf Soliman , Saleha Abbsi , Fatima Alkhori , Nada Alaaraj , Shayma Ahmed , Noor Hamed , Hamdy Ali

Introduction: Infants whose weight is > the 90th percentile for gestational age are classified as large for gestational age (LGA). Catch-up and catch-down growth can be defined as an increase or decrease in WAZ by > 0.67 SD respectively during the infantile period. It was suggested that in LGA rapid catch-up and/or no catch-down during infancy may be associated with the development of overweight (OW) and obesity (OB) during childhood.<p class="abstex...

hrp0095p1-332 | Growth and Syndromes | ESPE2022

Growth Hormone Therapy Experience in a Patient with Hypotonia Cystinuria Syndrome

Sarıkaya Emre , Berber Uğur , Gök Ebru , Kara Leyla , Gül Şiraz Ülkü , Hatipoğlu Nihal

Background: Hypotonia-Cystinuria Syndrome (HCS) is a rare autosomal recessive disease characterized by generalized hypotonia, nephrolithiasis, short stature, minor facial dysmorphism, hyperphagia, and rapid weight gain in late childhood. Microdeletion can be detected in part of the SLC3A1 and PREPL genes in these cases. Growth hormone deficiency is rarely seen in these patients and adequate growth can be achieved with growth hormone therapy.<p class="abste...

hrp0095p1-505 | Growth and Syndromes | ESPE2022

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

Juriaans Alicia , Trueba-Timmermans Demi , Kerkhof Gerthe , Hokken-Koelega Anita

Background/aims: Temple syndrome (TS14) is a rare imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or by an isolated methylation defect. TS14 is considered a Prader-Willi-like (PWL) disorder. Some patients with TS14 are treated with growth hormone (GH). However, evidence for the effectiveness of GH-treatment in patients with TS14 is very limited.Methods: ...

hrp0095p1-506 | Growth and Syndromes | ESPE2022

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

Donat Guillaume , Shaikh Guftar , Kinning Esther , McGowan Ruth

Background: Noonan syndrome (NS) is a condition caused by pathogenic variants of the genes of the RAS-MAPK pathway. Its clinical manifestations are diverse and include congenital heart disease, short stature, ocular abnormalities, coagulation defects and structural renal anomalies. Our aim was to find out whether the patients with a genetic diagnosis of NS in the West of Scotland were managed according to the Management of Noonan Syndrome guidelines (DYSCERNE)...

hrp0095p1-507 | Growth and Syndromes | ESPE2022

Vosoritide Improves Growth in Noonan Syndrome and Patients with NPR2 Mutations

Objectives: Vosoritide is a C-type natriuretic peptide (CNP) analog which binds its receptor on chondrocytes, leading to increased chondrocyte proliferation and differentiation via its inhibition of the ERK1/2-MAPK pathway. Rasopathies, including Noonan Syndrome, lead to increased signaling through this pathway. NPR2 encodes the receptor for CNP and heterozygous mutations in NPR2 account for ~2% of cases of idiopathic short stature.<p class="abste...

hrp0095p1-508 | Growth and Syndromes | ESPE2022

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

Cormier-Daire Valérie , Cohen Shelda , Edouard Thomas , Isidor Bertrand , Mukherjee Swati , Pimenta Jeanne , Rossi Massimiliano , Schaefer Elise , Sigaudy Sabine , Baujat Geneviève

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide (once daily, subcutaneous injection) has recently been approved by the European Medicines Agency (EMA) for treating achondroplasia in patients aged ≥2 years until closure of epiphyses. It has been made available in France via an early access program, a cohort Temporary Authorization fo...

hrp0095p1-509 | Growth and Syndromes | ESPE2022

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

Idkowiak Jan , Smith Arlene , Mundy Lily , Wanaguru Amy , Gleeson Helena , Högler Wolfgang

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s persp...

hrp0095p1-510 | Growth and Syndromes | ESPE2022

Temple syndrome: clinical findings and body composition

Juriaans Alicia , Kerkhof Gerthe , Hokken-Koelega Anita

Background/aims: Temple syndrome (TS14) is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or by an isolated methylation defect. TS14 is considered a Prader-Willi-like (PWL) disorder and phenotypic features include pre- and postnatal growth retardation, hypotonia, feeding difficulties, precocious puberty, short stature and truncal obesity.Methods: Thi...

hrp0095p1-511 | Growth and Syndromes | ESPE2022

Clinical characterization of patients with SHOX variants regarding their functional classification

Rodríguez Barrios Carmen , Domínguez Riscart Jesús , García Zarzuela Ana , Arellano Ruis Paola , Heath Karen , M. Lechuga-Sancho Alfonso

Introduction: Short stature is frequently caused by SHOX variants causing functional deficiency. SHOX resides in the pseudoautosomal region (PAR1) of the sex chromosomes and SHOX/enhancer alterations result in a broad phenotypic range: from Langer mesomelic dysplasia, Léri-Weill dyschondrosteosis to idiopathic short stature (ISS). Growth hormone (GH) therapy is indicated for those individuals with short stature due to SHOXdeficiency. A frequent limitati...

hrp0095p1-512 | Growth and Syndromes | ESPE2022

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

Sebastian Oberhoffer Felix , Bačová Martina , Li Pengzhu , Arnold Leonie , Alexander Haas Nikolaus , Dalla-Pozza Robert

Introduction: Turner syndrome (TS) is a rare X-chromosomal disease, which affects one in 2500-3000 female newborns. TS is associated with a distinct cardiovascular morbidity and mortality. Arterial hypertension is present in up to 50% of young TS women and closely related to the onset of aortic dilatation and dissection. The effective management of arterial hypertension can be considered as crucial to improve overall cardiovascular outcome of TS women. In the ...

hrp0095p1-513 | Growth and Syndromes | ESPE2022

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

Backeljauw Philippe , Pietropoli Alberto , Rohrer Tilman

Patients with Turner syndrome (TS) have short stature, despite having normal growth hormone (GH) secretion. Treatment with recombinant human GH is recommended. The effectiveness and safety of Norditropin® (somatropin, Novo Nordisk) over ≤10 years of follow-up were investigated in two non-interventional studies: NordiNet® IOS (NCT00960128) and the ANSWER Program (NCT01009905). Of 2,409 children with TS, 2,377 were included in the full analysis s...

hrp0095p1-514 | Growth and Syndromes | ESPE2022

Abstract Withdrawn...

hrp0095p1-515 | Growth and Syndromes | ESPE2022

Distinct Growth Characteristics in Angelman Syndrome

Daka‬‏ Ayman , Heimer Gali , Lapidot Noy , Ben Zeev Bruria , Modan-Moses Dalit , Pinhas-Hamiel Orit , Gruber Noah

Objectives: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by developmental delay with severe impairments in speech, motor and coordination dysfunction and unique behaviors, accompanied with distinct facial features and high prevalence of epilepsy and sleep problems. Despite few reports regarding short stature among AS patients, this feature has not been extensively studied and is not included in the clinical criteria defi...

hrp0095p1-516 | Growth and Syndromes | ESPE2022

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

van der ZwanY.G. , Spath M.A. , van Setten P.A. , van der Velden J.

Introduction: Turner syndrome is a relatively common chromosomal abnormality affecting 1:2000 girls. Virilization can occur in girls with Turner syndrome which is in most cases associated with the presence of an Y chromosome. Mosaicism is found in 25% of the karyotypes, in 6% of those the Y chromosome is present. This could lead to development of androgen producing gonadoblastoma/dysgerminoma. Active screening to search for Y chromosomal material is included i...

hrp0095p1-517 | Growth and Syndromes | ESPE2022

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

Pınar Öztürk Ayşe , Aslanger Ayça , Karakılıç Özturan Esin , Nur Konur Esma , Güleç Çağrı , Karaman Volkan , Yıldız Melek , Yeşil Gözde , Toksoy Güven , Poyrazoğlu Şükran , Baş Firdevs , Karaman Birsen , Oya Uyguner Zehra , Başaran Seher , Darendeliler Feyza

Background: Approximately 10-15% of small for gestational age (SGA) newborns are at risk of having subnormal growth and persistent short stature. It is postulated that a large amount of persistent short stature results from genetic abnormalities, which are commonly characterized by dysmorphic features and developmental disorders.Aim: To uncover the genetic etiology of syndromic short stature children born SGA.<p clas...

hrp0095p1-518 | Growth and Syndromes | ESPE2022

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

Soliman Ashraf , Ali Hamdy , Mahmoud Nazla , Itani Maya , Yassen Haytham

The arterial switch operation (ASO) represents a remarkable success in the treatment of cyanotic congenital heart disease, with survival rates approaching 100%. The effect of infantile deep hypothermic circulatory arrest and hypoxia on post-operative linear growth is not studied. Growth data were recorded and analyzed in 12 infants with d-TGA who underwent switch operation (anatomical correction) in the early neonatal period for 18 months.Results...

hrp0095p1-519 | Growth and Syndromes | ESPE2022

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

Dimitri Paul , Fernandez-Luque Luis , Koledova Ekaterina , Malwade Shwetambara , Abdul Shabbir Syed

Background: There is a need to increase digital health literacy in paediatric endocrinology due to the rapid emergence of digital technologies. Massive open online courses (MOOC) provide an opportunity to rapidly increase digital health capabilities at scale, as previously demonstrated in diabetes.1 To our knowledge, there are no comparable examples in the field of growth hormone deficiency.Aim: This study evaluates the ...

hrp0095p1-520 | Growth and Syndromes | ESPE2022

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

Kaya Özdemir Esma , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Aggrecan, a chondroitin sulfate proteoglycan encoded by the ACAN gene, is an important structural component of the cartilage matrix. Variants in the ACAN gene are associated with a group of skeletal dysplasias called aggrecanopathy, which shows a broad phenotypic spectrum. It has been reported that some heterozygous variants in this gene are responsible for the etiology of familial or idiopathic short stature located at the lightest end of the sp...

hrp0095p1-521 | Growth and Syndromes | ESPE2022

Case with Hoxa Gene Cluster Delete

Kaya Özdemir Esma , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Entrance: HOXA gene deletions cause an appearance characterized by short stature, mild developmental delay, characteristic face, small hands and feet, short and large thumbs, and urogenital malformations. Clinical signs may vary according to the content of the deletion region.Case: The case applied to our clinic with the complaint of short stature. It was learned that the patient was born at term 2500 gr and had bilatera...

hrp0095p1-522 | Growth and Syndromes | ESPE2022

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

Sordelli Micaela , Debicki Matías , Gonzalez Judit , María Sosa Ana , Hernán Cejas Leopoldo , Ginaca Romina , Jheeta Amrit , Malik Sumaira , Koledova Ekaterina , Assefi Aria

Background: Good adherence to recombinant human growth hormone (r-hGH) is crucial to achieve optimal growth outcomes in children with GH deficiency (GHD). Controlling factors that negatively impact adherence is difficult in clinical practice. In order to obtain a better understanding of caregiver behaviour, an Argentinian patient support programme (PSP) implemented TuiTek®, a personalised programme comprising behavioural change training, call guides...

hrp0095p1-523 | Growth and Syndromes | ESPE2022

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

Wei Su , Longwei Sun , Zhuoguang Li , Xia Liu , Longjiang Zhang , Xiu Zhao , Shumin Fan , Boning Li , Ying Xie , Weiwei Xiao , Zhe Su

Objective: Patients with Turner syndrome (TS) have an increased risk of aortic dilatation (AD), which is associated with higher mortality. The diagnosis of AD in children is more difficult than that in adults. This study aimed to investigate the application of cardiovascular assessment criteria in diagnosing AD in Chinese children and adolescents with TS.Methods: In this retrospective study, a comprehensive cardiovascula...

hrp0095p1-524 | Growth and Syndromes | ESPE2022

A Case with Growth and Developmental Retardation: 12q14 Deletion

ÇEtinkaya Semra , Görkem Erdoğan Nilay , Savaş Erdeve Şenay , Bakir Abdullatif

Introduction: Interstitial deletions on the long arm of the 12th chromosome are rare and often occur de novo. These deletions have been found to be associated with mental retardation, developmental delay, growth retardation and various congenital anomalies in different studies. In studies up to date, it has been determined all interstitial 12q deletions are clustered between five regions on this chromosome (HMGA2, GRIP1, LEMD3, MSRB3, and TMBIM4). Low birth we...

hrp0095p1-525 | Growth and Syndromes | ESPE2022

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

Auerbach Adi , H Korman Stanley , Jaron Ranit , Peled Segel Reeval , D Wexler Isaiah , Avraham Zehavi , Claire King Mary , Rosenfeld Nuphar , Levy-Lahad Ephrat , Abu-Libdeh Abdulsalam , H Zangen David , Levy- Khademi Floris

Background: Phosphoglucomutase 1 (PGM-1) deficiency is a congenital disorder of glycosylation caused by an impairment of glucose-1-phosphate and glucose-6-phosphate interconversion.The clinical phenotype of PGM1 deficiency is variable and includes several endocrine manifestations such as recurrent hypoglycemia and short stature, which may be associated with the decreased levels of growth hormone (GH), insulin like growth factor-1 (IGF1) ...

hrp0095p1-526 | Growth and Syndromes | ESPE2022

A Case of Short Stature Presenting with Multiple Exocytosis

Betul Kaygusuz Sare , Gokoglu Mustafa , Turan Serap

Objectives: Trichorinophalangeal syndrome (TRPS) is a cause of syndromic short stature; and is characterized by typical dysmorphology, ectodermal dysplasia, and skeletal findings. There are two types of TRPS; TRPS-I caused by monoallelic pathogenic variants in the TRPS1 gene, and TRPS-II caused by whole gene deletion. TRPS-II; also called Langer-Giedion Syndrome (LGS), in which multiple exocytoses can be seen in addition to typical TRPS features due t...

hrp0095p1-527 | Growth and Syndromes | ESPE2022

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

Alyafei Fawzia , Soliman Ashraf , Alqubasi Mai , Olukade Tawa , Ali Hamdy , Alturk Mohamed , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Prematurity, post-maturity, and significant deviations in birth weight are associated with significant morbidities and mortalities.Aim: The aim of this study was to identify the cumulative incidence (CI) of premature, postmature, and term birth rates additionally to find out the prevalence of SGA, AGA, and LGA using INTERGROWTH-21 st fetal growth standards.Methods: Th...

hrp0095p1-528 | Growth and Syndromes | ESPE2022

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

Maggio Maria Cristina , Simona Alaimo , Flavia Volpe , Vincenzo Antona , Giovanni Corsello

SHOX gene haploinsufficiency is a well-documented cause of short stature and skeletal abnormalities; SHOX duplications appear very rare and of uncertain clinical significance. If relatively extended, they can result in SHOX overexpression with normal or tall stature. Partial SHOX duplications seems to have a more deleterious effect on skeletal dysplasia and short stature than complete SHOX duplications. MLPA (Multiplex Ligation-dependent Probe Amplification) analysis of SHOX/P...

hrp0095p1-529 | Growth and Syndromes | ESPE2022

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

Festa Adalgisa , Luongo Caterina , Aiello Francesca , Santoro Claudia , Piluso Giulio , Torella Annalaura , Del Vecchio Blanco Francesca , Nigro Vincenzo , Miraglia del Giudice Emanuele , Grandone Anna

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

hrp0095p1-530 | Growth and Syndromes | ESPE2022

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)

Alyafei Fawzia , Soliman Ashraf , Alkhori Fatima , Ali Hamdy , Alaaraj Nada , Hamed Noor , Ahmed shayma , Alhemaidi Noora , Abbasi Saleha

Introduction: This study evaluated the postnatal growth of infants born with extremely low birth weight (ELBW) < 1 kg for 3 years.Method: Anthropometric measures (z scores) from birth, 2,4.6,12,18,24, and 36 months were measured in 87 randomly selected infants who were born with a birth weight below 1 kg (9-2016: 9-2018). Their growth data were compared to standard growth for normal age and sex using WHO growth standa...

hrp0095p1-531 | Growth and Syndromes | ESPE2022

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.

Alyafei Fawzia , Soliman Ashraf , Abbsi Saleha , Alkhori Fatima , Ali Hamdy , Alaaraj Nada , Hamed Noor , Ahmed Shayma

Introduction: Large for date (LGA) infants may have a higher tendency to become obese and tall. Catch-up and/or catch-down in linear growth, defined as an increase or decrease in length for age Z score (LAZ) by > 0.67 SD during the infantile period, may affect this tendency. Additionally, head circumference is well correlated with brain growth.Aim: We evaluated the prevalence of tall stature (LAZ > 1 and> 2) and...

hrp0095p1-532 | Growth and Syndromes | ESPE2022

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

Petraroli Maddalena , Percesepe Antonio , Piane Maria , Gnocchi Margherita , Messina Giulia , Lattanzi Claudia , D'alvano Tiziana , Dora Patianna Viviana , Ormitti Francesca , Maria Roberta Esposito Susanna , Elisabeth Street Maria

MOPD is known to be caused by homozygous loss-of-function mutations in a specific gene, PCNT. Both intra- and interfamilial clinical variability (even for the same variant) have been frequently observed, which makes it difficult to infer a genotype–phenotype correlation. Pericentrin (PCTN) is a structural protein expressed in the centrosome that plays a fundamental role in anchoring protein complexes, regulating mitotic cycle and thus cell proliferation. High levels of m...

hrp0095p1-533 | Growth and Syndromes | ESPE2022

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

Righi Beatrice , Peluso Francesca , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: McCune Albright Syndrome (MAS) is a rare disorder caused by somatic activating mutations of the GNAS gene, characterized by monostotic/polyostotic fibrous dysplasia, café au lait skin pigmentation and hyperfunctioning endocrinopathies. We report a case of MAS presenting with mild phenotypic characteristics and central precocious puberty (CPP).Case: Indian female was referred to our clinic fo...