Office for Rare Conditions, Royal Hospital for Children & Queen Elizabeth University Hospital, Glasgow, UK
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Department of Paediatric Endocrinology, Ghent University Hospital, Ghent, Belgium
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Department of Medicine & Clinical Epidemiology, Leiden University Medical Centre, Leiden, the Netherlands
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Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy
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Amsterdam Gastroenterology Endocrinology and Metabolism, Amsterdam, the Netherlands
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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
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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.
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Immune checkpoint inhibitors are now widely used in the treatment of multiple cancers. The major toxicities of these treatments are termed immune-related adverse events and endocrine dysfunction is common. Thyroid disease, hypopituitarism and a form of diabetes resembling type 1 diabetes are now all well described, with different patterns emerging with different checkpoint inhibitors. We review the presentation and management of the common endocrine immune-related adverse events, and discuss a number of recent advances in the understanding of these important, potentially life threatening toxicities. We also discuss some remaining dilemmas in management.
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prevalence of SCH of up to 18% has been reported ( 2 , 7 , 8 ). Thyroid diseases including SCH are known to be more prevalent in women than in men ( 9 , 10 ). Approximately 5–15% of women are positive for thyroid autoantibodies, either anti
Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
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Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
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Department of Clinical Medicine, Aalborg University, Aalborg, Denmark
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Department of Endocrinology, Aalborg University Hospital, Aalborg, Denmark
Steno Diabetes Center North Jutland, Aalborg University Hospital, Aalborg, Denmark
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Department of Geriatrics, Aalborg University Hospital, Aalborg, Denmark
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function in pregnancy ( 3 , 4 ). However, uncertainties prevail on the definition of thyroid disease in pregnant women and on the role of smaller deviations in maternal thyroid function ( 3 , 4 ). It has long been recognized that the pregnant state
AESKU.KIPP Institute, Wendelsheim, Germany
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both share environmental, pathological, immunogenic, hormonal, serological and genetic aspects ( 2 , 3 , 4 ). Table 1 Shared clinical features between celiac and autoimmune thyroid diseases. Symptom/sign Celiac disease Hashimoto
Department of Endocrinology, Zunyi Medical University, Zunyi, China
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Introduction Graves’ disease (GD) is an organ-specific autoimmune thyroid disease (AITD) ( 1 , 2 ) and the most common cause of hyperthyroidism in iodine-sufficient geographical areas ( 3 ). According to the literature, the prevalence of
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Introduction Pregnancy has a profound impact on the thyroid gland and its function, so it is not surprising that thyroid diseases are relatively frequently observed among pregnant women. Maternal thyroid hormones are known to be crucial for
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Institute of Oncology, The Affiliated Hospital of Jiangsu University, Zhenjiang, China
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maintenance of the inflammatory process, which ultimately leads to autoimmune thyroid diseases such as HT and Graves’ disease ( 18 , 19 , 20 , 21 , 22 , 23 ). In the present study, for the first time, we demonstrated the potential role of MRP14 in HT
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Department of Endocrinology and Metabolism, The Second Hospital of Dalian Medical University, Dalian, Liaoning, China
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of gestation. Gestational age was determined by last menstruation period and ultrasound of fetus. Exclusion criteria applied to multiple pregnancies, patients with thyroid disease history, diabetes, abnormal liver enzymes and any other chronic
Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel
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Azrieli Faculty of Medicine, Bar-Ilan University, Safed, Israel
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Department of Otolaryngology Head and Neck Surgery, Galilee Medical Center, Nahariya, Israel
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hospitalization is usually the result of stress due to the acute illness that led to hospitalization or the effect of drug therapy. In rare cases, thyroid dysfunction may result from thyroid disease and without treatment may adversely affect hospitalization
