Previous issue | Volume 94 | ESPE2021

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

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The 59th ESPE Annual Meeting will now be held online in September 2021.

hrp0094p1-121 | Growth A | ESPE2021

Higher rates of non-skeletal complications in achondroplasia compared to the general population: a UK matched cohort study using the CPRD database

Pimenta Jeanne M. , Cheung Moira , Irving Melita , Mazzeo Louise , Landis Sarah , Mukherjee Swati ,

Objectives: Achondroplasia (ACH) is a rare, genetic skeletal dysplasia, resulting in impaired endochondral bone growth and leading to multisystem complications. We aimed to estimate rates of non-skeletal complications in ACH patients compared with general population controls.Methods: Retrospective cohort study using UK Clinical-Practice-Research-Datalink (CPRD-GOLD), identifying an ACH cohort. Study index date was define...

hrp0094p1-122 | Growth A | ESPE2021

Short stature in Protein Arginine Methyltransferase 7 (PRMT7) mutations: first evidences of growth response to rGH treatment

Rodari Giulia , Giacchetti Federico , Villa Roberta , Scuvera Giulietta , Gangi Silvana , Porro Matteo , Bedeschi Maria Francesca , Profka Eriselda , Dall’Antonia Alberta , Arosio Maura , Giavoli Claudia ,

Protein arginine methyltransferase 7 (PRMT7), a member of a family of enzymes that catalyse the transfer of methyl groups from S-adenosyl-L-methionine to nitrogen atoms on arginine residues, is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 12 patients with homozygous/compound heterozygous mutations in PRMT7 gene have been described defining the ...

hrp0094p1-123 | Growth A | ESPE2021

Growth and nutrition improvement with recombinant growth hormone in prepubertal patients with Silver-Russell syndrome

Villemeur Raphaelle Billette de , Giabicani Eloise , Dubern Beatrice , Netchine Irene ,

Objective: Silver-Russell syndrome (SRS) is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation and feeding difficulties. Patients can benefit from recombinant growth hormone (rGH) therapy which has shown its positive effect on adult height. Our objective was to assess the short-term effects of rGH therapy on growth and nutritional status in prepubertal patients with SRS.Design: Retrospective anal...

hrp0094p1-124 | Growth A | ESPE2021

Management of endocrine aspects of Noonan syndrome across Europe: A subanalysis of a European clinical practice survey

Edouard Thomas , Zenker Martin , Ostman-Smith Ingegerd , Ortega Castello Eduardo , Wolf Cordula , Burkitt-Wright Emma , Verloes Alain , Garcia-Minaur Sixto , Tartaglia Marco , Shaikh Guftar , Lebl Jan ,

Aim: There is a current lack of international guidelines for managing the endocrine aspects of Noonan syndrome (NS). A clinical practice survey was developed to identify knowledge gaps and differences in the management of patients with NS across Europe.Materials and Methods: A 60-question clinical practice survey was developed for clinical geneticists, paediatric endocrinologists and paediatric cardiologists directly involved in treating...

hrp0094p1-125 | Growth A | ESPE2021

PROPEL2: a phase 2, open-label, dose-escalation and dose-expansion study of infigratinib in children with achondroplasia (ACH)

Savarirayan Ravi , Arundel Paul , Bergua Josep Maria De , McDevitt Helen , Cormier-Daire Valerie , Saraff Vrinda , Skae Mars , Santos-Simarro Fernando , Salles Jean Pierre , Rossi Massimiliano , Kannu Peter , Bober Michael B. , III John Phillips , Saal Howard , Harmatz Paul , Meireles Ana Beleza , Cho Terry , Muslimova Elena , Weng Richard , Rogoff Daniela , Irving Melita ,

Background: ACH, the most common short-limbed skeletal dysplasia, is characterized by defective endochondral ossification resulting from gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of endochondral bone formation. Current treatment options are non-targeted, ineffective, or painful interventions aimed at preventing or treating complications. Infigratinib is an orally bioavailable and selective...

hrp0094p1-126 | Growth A | ESPE2021

Identification and tissue-specific characterization of novel SHOX-regulated genes in zebrafish highlights SOX family members among other genes

Hoffmann Sandra , Roeth Ralph , Diebold Sabrina , Gogel Jasmin , Hassel David , Just Steffen , Rappold Gudrun A ,

SHOX deficiency causes a spectrum of clinical phenotypes related to skeletal dysplasia and short stature, including Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome, and idiopathic short stature. SHOX controls chondrocyte proliferation and differentiation, bone maturation, cellular growth arrest and apoptosis via transcriptional regulation of its direct target genes NPPB, FGFR3, and CTGF. However, our u...

hrp0094p1-127 | Growth A | ESPE2021

Evaluation of early puberty in boys and girls with Silver-Russell Syndrome: Discordance between testicular growth and pituitary-gonadal hormones in male cases

Yildiz Melek , Bas Firdevs , Karaman Birsen , Poyrazoglu Sukran , Basaran Seher , Darendeliler Feyza ,

Background: In Silver-Russell Syndrome (SRS), it is known that puberty starts early, frequency of premature adrenarche increases and adrenarche progresses aggressively. However, data regarding gonadal functions and testicular development in males during pubertal period is still insufficient.Methods: Twenty-four cases (9F, 15M) who were followed-up with diagnosis of SRS between 1990-2020 were included in the study. The di...

hrp0094p1-128 | Growth A | ESPE2021

Evaluation of Persistent Short Stature in Children Born Small for Gestational Age without Catch-up Growth

Pınar Ozturk Ayşe , Ozturan Esin Karakılıc , Poyrazoğlu Şukran , Baş Firdevs , Darendeliler Feyza ,

Aim: The majority of children born small for gestational age (SGA) demonstrate spontaneous catch-up growth in height by the age of two years; however, approximately 10-15% of SGA newborns are at risk of having subnormal growth and persistent short stature (PSS).Method: We evaluated clinical, anthropometric, and laboratory characteristics of the 86 children with PSS who were born SGA.Results...

hrp0094p1-129 | Growth A | ESPE2021

Computer-aided facial analysis as a tool to identify patients with Silver-Russell syndrome and Prader-Willi syndrome

Ciancia Silvia , Goedegebuure Wesley J. , Grootjen Lionne N. , Hokken-Koelega Anita C.S. , Kerkhof Gerthe F. , van der Kaay Danielle C. ,

Introduction: Genetic syndromes often show suggestive facial features that provide clues for the diagnosis. Considering the high number of genetic syndromes and the possible overlap of some features, memorizing facial gestalt is a challenging task for clinicians. DeepGestalt technology, and its app Face2Gene, has a growing impact on the diagnosis and management of genetic diseases by analyzing the features detected in one or more facial images of affected indi...

hrp0094p1-130 | Growth A | ESPE2021

Study design and baseline characteristics of children enrolled in PROPEL: A prospective clinical assessment study in children with achondroplasia (ACH)

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

Background: ACH is the most common short-limbed skeletal dysplasia, affecting between 1 in 15,000 to 1 in 30,000 live births. Children and adults with ACH have disproportionate short stature, with a final height of approx. 131 cm for males and 124 cm for females. People with ACH are prone to significant co-morbidities, including obstructive sleep apnea, chronic otitis media with conductive hearing loss, spinal stenosis, and a propensity towards obesity. In som...