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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.

Free Communications

Growth and Syndromes

hrp0095fc7.1 | Growth and Syndromes | ESPE2022

How to detect children with monogenic etiology of familial short stature?

Plachy Lukas , Petruzelkova Lenka , Dusatkova Petra , Maratova Klara , Zemkova Dana , Kolouskova Stanislava , Snajderova Marta , Obermannova Barbora , Sumnik Zdenek , Lebl Jan , Pruhova Stepanka

Introduction: Familial short stature (FSS) describes vertically transmitted growth disorders. Traditionally, polygenic inheritance is presumed, but monogenic inheritance seems to occur more frequently than expected. Clinical predictors of monogenic FSS have not been elucidated thus far. The aim of the study was to identify the monogenic etiology and its clinical predictors in FSS children.Patients and Methods: Of 747 pat...

hrp0095fc7.2 | Growth and Syndromes | ESPE2022

Post-hoc subgroup analysis of the pivotal phase 3 study of once-weekly somatrogon vs once-daily Genotropin: results from subjects with peak stimulated growth hormone value <6.7 ng/ml

Phillip Moshe , Deal Cheri , Silverman Lawrence , Henocque Robin , Nijher Monica , Wajnrajch Michael , Wang Ronnie , Cara Jose

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved by the EMA as a once weekly treatment for children with GH deficiency (GHD). The peak stimulated GH cut-off value for diagnostic criteria for GHD varies according to country-specific guidelines. The objective of this subgroup analysis of the pivotal phase 3 somatrogon study was to evaluate the primary and secondary efficacy endpoints for subjects with a peak GH value <6.7...

hrp0095fc7.3 | Growth and Syndromes | ESPE2022

Italian long-term data on efficacy and safety of rhGH therapy in children with SHOX deficiency: the final report of a national survey performed into ISPED Growth Study Group.

Bruzzi Patrizia , Vannelli Silvia , Scarano Emanuela , Elisabeth Maria , Parpagnoli Maria , Salerno Mariacarolina , Secco Andrea , Andrea Trettene Adolfo , Wasniewska Malgorzata , Pitea Marco , Faienza Mariafelicia , Delvecchio Maurizio , Corciulo Nicola , Tornese Gianluca , Filomena Madeo Simona , Iughetti Lorenzo

Background: Among children with idiopathic short stature, Italian data reported a prevalence of short stature homeobox-containing gene (SHOX) deficiency disorders (SHOX-D) near to 1/1.000-2.000 (1.1-15%) with a wide phenotypic spectrum. Current guidelines support recombinant human growth hormone (rhGH) therapy in SHOX-D children, but long-term data are still lacking. This national survey aims to evaluate long-term efficacy and safety of rhGH therapy in Italian...

hrp0095fc7.4 | Growth and Syndromes | ESPE2022

Novel puberty aligned references for height, weight and BMI -making personalized medicine in paediatric endocrinology possible

Holmgren Anton , Niklasson Aimon , Gelander Lars , FM Nierop Andreas , Albertsson-Wikland Kerstin

Background and Aim: Despite the broad individual variation of pubertal maturation, references traditionally describe growth in relation to just chronological age and not biological age. Hence, growth references for the adolescent period have been of limited usefulness for monitoring individual growth in clinic and for research. Especially for children and adolescents with chronic diseases is there a need to better evaluate if changes in SD-scores just before a...

hrp0095fc7.5 | Growth and Syndromes | ESPE2022

Population-based assessment of cardiometabolic-related diagnoses in youth with Turner Syndrome: A PEDSnet Study

Davis Shanlee , Furniss Anna , Pyle Laura , Nokoff Natalie

Background: Cardiovascular diseases are the leading cause of premature death among women with Turner syndrome (TS). Studies in youth with TS suggest that cardiometabolic-related dysfunction is present in childhood, however these small convenience samples may not be generalizable to the whole TS population. PEDSnet, the largest pediatric Health Learning System in the United States (US) representing >6 million children, offers a unique opportunity to examine ...

hrp0095fc7.6 | Growth and Syndromes | ESPE2022

The Multifaceted Burden Experienced by Caregivers of Individuals With Bardet-Biedl Syndrome: Findings from the CARE-BBS Study

Forsythe Elizabeth , Mallya Usha M. , Yang Min , Caroline , Lynn Mary , Grea Ali , Po Jeremy , Haqq Andrea M.

Background: Caregivers of patients with Bardet Biedl syndrome (BBS) face substantial burden from highly prevalent features of the disease, namely hyperphagia, or uncontrollable hunger, and obesity. However, the burden experienced by caregivers of individuals with BBS is not well characterized.Methods: A multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to quantify the burden experien...