Search Results
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Search for other papers by S R Ali in
Google Scholar
PubMed
Search for other papers by J Bryce in
Google Scholar
PubMed
Search for other papers by A L Priego-Zurita in
Google Scholar
PubMed
Search for other papers by M Cherenko in
Google Scholar
PubMed
Search for other papers by C Smythe in
Google Scholar
PubMed
Search for other papers by T M de Rooij in
Google Scholar
PubMed
Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
Search for other papers by M Cools in
Google Scholar
PubMed
Search for other papers by T Danne in
Google Scholar
PubMed
Search for other papers by H Katugampola in
Google Scholar
PubMed
Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands
Search for other papers by O M Dekkers in
Google Scholar
PubMed
Search for other papers by O Hiort in
Google Scholar
PubMed
Search for other papers by A Linglart in
Google Scholar
PubMed
Search for other papers by I Netchine in
Google Scholar
PubMed
Search for other papers by A Nordenstrom in
Google Scholar
PubMed
Search for other papers by P Attila in
Google Scholar
PubMed
Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
Search for other papers by L Persani in
Google Scholar
PubMed
Search for other papers by N Reisch in
Google Scholar
PubMed
Search for other papers by A Smyth in
Google Scholar
PubMed
Search for other papers by Z Sumnik in
Google Scholar
PubMed
Search for other papers by D Taruscio in
Google Scholar
PubMed
Search for other papers by W E Visser in
Google Scholar
PubMed
Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
Search for other papers by A M Pereira in
Google Scholar
PubMed
Search for other papers by N M Appelman-Dijkstra in
Google Scholar
PubMed
Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
Department of Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, the Netherlands
Search for other papers by S F Ahmed in
Google Scholar
PubMed
Objective
The European Registries for Rare Endocrine Conditions (EuRRECa, eurreb.eu) includes an e-reporting registry (e-REC) used to perform surveillance of conditions within the European Reference Network (ERN) for rare endocrine conditions (Endo-ERN). The aim of this study was to report the experience of e-REC over the 3.5 years since its launch in 2018.
Methods
Electronic reporting capturing new encounters of Endo-ERN conditions was performed monthly through a bespoke platform by clinicians registered to participate in e-REC from July 2018 to December 2021.
Results
The number of centres reporting on e-REC increased to a total of 61 centres from 22 countries. A median of 29 (range 11, 45) paediatric and 32 (14, 51) adult centres had reported cases monthly. A total of 9715 and 4243 new cases were reported in adults (age ≥18 years) and children, respectively. In children, sex development conditions comprised 40% of all reported conditions and transgender cases were most frequently reported, comprising 58% of sex development conditions. The median number of sex development cases reported per centre per month was 0.6 (0, 38). Amongst adults, pituitary conditions comprised 44% of reported conditions and pituitary adenomas (69% of cases) were most commonly reported. The median number of pituitary cases reported per centre per month was 4 (0.4, 33).
Conclusions
e-REC has gained increasing acceptability over the last 3.5 years for capturing brief information on new encounters of rare conditions and shows wide variations in the rate of presentation of these conditions to centres within a reference network.
Significance statement
Endocrinology includes a very wide range of rare conditions and their occurrence is often difficult to measure. By using an electronic platform that allowed monthly reporting of new clinical encounters of several rare endocrine conditions within a defined network that consisted of several reference centres in Europe, the EuRRECa project shows that a programme of e-surveillance is feasible and acceptable. The data that have been collected by the e-reporting of rare endocrine conditions (e-REC) can allow the continuous monitoring of rare conditions and may be used for clinical benchmarking, designing new studies or recruiting to clinical trials.
Search for other papers by Jiaxi Li in
Google Scholar
PubMed
Search for other papers by Pu Huang in
Google Scholar
PubMed
Search for other papers by Jing Xiong in
Google Scholar
PubMed
Search for other papers by Xinyue Liang in
Google Scholar
PubMed
Search for other papers by Mei Li in
Google Scholar
PubMed
Search for other papers by Hao Ke in
Google Scholar
PubMed
Search for other papers by Chunli Chen in
Google Scholar
PubMed
Search for other papers by Yang Han in
Google Scholar
PubMed
Search for other papers by Yanhong Huang in
Google Scholar
PubMed
Search for other papers by Yan Zhou in
Google Scholar
PubMed
Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China
Search for other papers by Ziqiang Luo in
Google Scholar
PubMed
Hunan Key Laboratory of Organ Fibrosis, Central South University, Changsha, Hunan, China
Search for other papers by Dandan Feng in
Google Scholar
PubMed
Search for other papers by Chen Chen in
Google Scholar
PubMed
Hospital, Hunan Province, through routine health checks without any metabolic diseases in the last three consecutive years. There were no personal and family history of diabetes mellitus, hepatobiliary obstruction, hypertension, thyroid disease, autoimmune
