ECE2022 Poster Presentations Reproductive and Developmental Endocrinology (61 abstracts)
European Registries for Rare Endocrine Conditions (EuRRECa): results from the e-Reporting platform for rare conditions (e-REC)
Salma Rashid Ali 1,2 , Jillian Bryce 2 , Ana Luisa Priego Zurita 3 , Martine Cools 4 , Thomas Danne 5 , Harshini Katugampola 6 , Olaf M. Dekkers 7 , Olaf Hiort 8 , Agnès Linglart 9 , Irene Netchine 10 , Anna Nordenström 11 , Attila Patócs 12 , Alberto M Pereira 3 , Luca Persani 13,14 , Nicole Reisch 15 , Arelene Smyth 2 , Zdenek Sumnik 16 , Domenica Taruscio 17 , Edward Visser 18 , Natasha Appelman-Dijkstra 19 & Faisal Ahmed 1,2,3
1Developmental Endocrinology Research Group, School of Medicine, Dentistry & Nursing, University of Glasgow, UK; 2Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK; 3Dept of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, Netherlands; 4Department of Internal Medicine and Paediatrics, Ghent University, Belgium, Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium; 5Diabetes Center AUF DER BULT, Hannover, Germany; 6Genetics and Genomic Medicine Programme, UCL GOS Institute of Child Health, 30 Guilford Street, London WC1 N 1EH; 7Departments of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, Netherlands; 8Division of Paediatric Endocrinology and Diabetes, Department of Paediatrics and Adolescent Medicine, University of Lübeck, Lübeck, Germany; 9APHP, Bicêtre Paris Sud, le Kremlin Bicêtre, France; 10Sorbonne Université, Inserm, Centre de recherche Sainte Antoine, APHP, Hôpital des Enfants Armand Trousseau, Paris, France; 11Pediatric Endocrinology and Inborn Errors of Metabolism, Karolinska University Hospital, S-17176 Stockholm Sweden; 12Clinical Genetics and Endocrinology Laboratory, Department of Laboratory Medicine, Semmelweis University, Budapest, Hungary; 13Dept of Biotechnology and Experimental Medicine, University of Milan, 20122 Milan, Italy; 14Division of Endocrine and Metabolic Diseases, Istituto Auxologico Italiano, 20145 Milan, Italy; 15Med. Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; 16Department of Pediatrics, Motol University Hospital, Prague, Czech Republic; 17National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy; 18Erasmus Medical Centre, Department of Internal Medicine, Academic Centre for Thyroid Diseases, Rotterdam, Netherlands; 19Leiden University Medical Center, Leien, Netherlands
Background: EuRRECa (eurreca.net) is a web-based project that supports professional networks such as European Reference Networks (ERNs) in capturing standardised clinical information. The project includes an e-reporting registry (e-REC), which can be used to perform regular surveillance of specific events. Since 2018, e-REC has been used by the ERN for rare endocrine conditions (Endo-ERN) to understand the number of new clinical encounters at centres within this network.
Methods: Electronic reporting cards were issued through a simple bespoke reporting platform on a monthly basis to clinicians who had registered to participate in e-REC from July 2018 to June 2021. Clinicians were asked to report any newly encountered cases of any of the conditions that have been included in Endo-ERN.
Results: The number of centres reporting on e-REC has increased over a 3 year period from July 2018 to June 2021 when, a total of 60 centres from 22 countries had reported cases. Over this period, a median of 24 (range 10, 37) paediatric centres and 24 (12, 38) adult centres had reported cases on a monthly basis. A total of 7.860 and 3.771 new cases were reported in adults and children, respectively. Amongst paediatric cases, conditions within the sex development condition group were most commonly reported, comprising 44% of all reported conditions, with a trend towards more cases being reported on an annual basis. Overall, the median number of cases reported per centre was 30 (10, 137) and transgender (male to female) cases comprised the most commonly reported condition (58% of cases). Amongst adults, pituitary and thyroid conditions were most commonly reported, comprising 45% and 20% of all conditions, respectively. An increasing number of pituitary cases were reported over the 3 year period; a median of 79 (6, 255) pituitary cases were reported per centre. The reporting of thyroid cases remained constant; a median of 43 (5, 75) thyroid cases were reported per centre. Amongst conditions within the pituitary and thyroid groups, pituitary adenomas and non-metastatic thyroid carcinomas were the most commonly reported conditions, comprising 69% and 97% of cases, respectively.
Conclusion: There is increasing acceptability of the e-REC platform which can be used to capture brief and simple information to improve our understanding regarding new encounters of rare endocrine conditions. The platform can be adapted to serve the needs of several networks that are interested in understanding the occurrence of rare conditions.
Volume 81
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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