ESPE Abstracts (2021) 94 P1-124

ESPE2021 ePoster Category 1 Growth A (10 abstracts)

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

Thomas Edouard 1 , Martin Zenker 2 , Ingegerd Östman-Smith 3 , Eduardo Ortega Castelló 4 , Cordula Wolf 5 , Emma Burkitt-Wright 6 , Alain Verloes 7 , Sixto García-Miñaúr 8 , Marco Tartaglia 9 , Guftar Shaikh 10 & Jan Lebl 11

1Endocrine, Bone Diseases, and Genetics Unit, Children’s Hospital, Toulouse University Hospital, RESTORE INSERM UMR1301, Toulouse, France; 2Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany; 3Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden; 4Department of Statistics and Data Science, Faculty of Statistical Studies, Complutense University of Madrid, Madrid, Spain; 5Department of Pediatric Cardiology and Congenital Heart Diseases, German Heart Center Munich at the Technical University Munich, Munich, Germany; 6Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust and University of Manchester, Manchester, United Kingdom; 7Department of Genetics, Hospital Robert Debré, Assistance Publique des Hopitaux de Paris (AP-HP), Paris, France; 8Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz Research Institute (IdiPAZ), Hospital Universitario La Paz, Madrid, Spain; 9Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy; 10Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, United Kingdom; 11Department of Pediatrics, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic

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 and managing patients with NS. The survey was implemented via the SurveyMonkey online platform and circulated by several European and national specialist societies. Contingency tables and the Chi-Squared test for independence were used to examine differences between specialities and countries.

Results: Responses from 364 physicians from 20 European countries were included in this analysis: endocrinologists (40%), geneticists (30%), and cardiologists (30%). To monitor growth, endocrinologists tend to refer to national growth charts for the general population, and geneticists generally use NS-specific growth charts. Many endocrinologists (52%) perform growth hormone (GH) stimulation tests in patients with NS and short stature with low IGF1 levels (10% never perform these tests, and 36% always perform these tests regardless of IGF1 levels). Sixty six percent of endocrinologists begin GH treatment for short patients in early childhood (4–6.9 years). Half of them (55%) considered a threshold for GH treatment of -2 standard deviation score (SDS) according to national growth charts. Respondents from all specialities had the following concerns about GH treatment: hypertrophic cardiomyopathy (HCM) (59%), increased risk of malignancy (46%), and limited efficacy (31%). There were significant discrepancies between respondents regarding the meaning of HCM as a contraindication for GH. When asked if they consider HCM a contraindication to the use of GH therapy, many skipped this question, and of those who replied, many selected the option ‘cannot answer’, suggesting a high level of uncertainty. There were 21 reported adverse cardiac responses to GH treatment from <10% of respondents. While the majority had not encountered malignancies during GH treatment, 6 were reported (4 brain tumours, including 3 dysembryoplastic neuroepithelial tumours, and 2 leukaemias). Around half of the surveyed endocrinologists expected GH treatment to produce a typical final height gain of 1–1.5 SDS.

Conclusion: For the first time, results from this survey describe current clinical practice for managing the endocrine aspects of NS within Europe. These data will allow us to identify gaps in the knowledge of this rare genetic disorder, highlighting important topics for education and further research.

Volume 94

59th Annual ESPE (ESPE 2021 Online)

22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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