{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T06:13:26Z","timestamp":1772259206931,"version":"3.50.1"},"reference-count":6,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,3,19]],"date-time":"2021-03-19T00:00:00Z","timestamp":1616112000000},"content-version":"vor","delay-in-days":18,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Purpose<\/jats:title>\n                <jats:p>Rare diseases affect &lt;1 in 2000 people. Despite their rarity, they collectively affect ~30 million people across Europe. The aim of this article is to present the view of our European endocrine societies on the care of patients with rare endocrine conditions.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We evaluated the current situation of patients with rare endocrine disease and present the joint views of the European Society for Endocrinology (ESE) and the European Society for Pediatric Endocrinology (ESPE) on how the endocrine disciplines can support and contribute to a better health of patients with rare endocrine conditions in Europe.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Rare diseases pose many challenges, including early diagnosis and innovative treatment options. Rare endocrine diseases can be found among inherited disorders, cancers, and conditions associated with metabolic disorders such as diabetes, calcium and bone metabolism, lipid metabolism, hypogonadism, and adrenal, pituitary, and thyroid dysfunction. According to the European Registries for Rare Endocrine conditions, there are over 440 distinct rare diseases that affect the endocrine system. Rare endocrine diseases are often chronic and life-threatening.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>ESE and ESPE support a strategic plan to address unmet needs in the area of rare endocrine conditions. The EU should continue to evolve and expand its plans for funding European Reference Networks so that they can expand their activities.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12020-021-02652-x","type":"journal-article","created":{"date-parts":[[2021,3,19]],"date-time":"2021-03-19T13:03:45Z","timestamp":1616159025000},"page":"539-541","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Perspectives of the European Society of Endocrinology (ESE) and the European Society of Paediatric Endocrinology (ESPE) on rare endocrine disease"],"prefix":"10.1007","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9817-9875","authenticated-orcid":false,"given":"Martin","family":"Reincke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1384-7628","authenticated-orcid":false,"given":"Anita","family":"Hokken-Koelega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,3,19]]},"reference":[{"key":"2652_CR1","unstructured":"European Commission, Fact sheet \u201cEU research on rare diseases\u201d https:\/\/ec.europa.eu\/info\/research-and-innovation\/research-area\/health-research-and-innovation\/rare-diseases_en"},{"key":"2652_CR2","doi-asserted-by":"publisher","first-page":"no. 2","DOI":"10.1016\/S2213-8587(19)30006-3","volume":"7","author":"Editorial \u201cSpotlight on rare diseases\u201d.","year":"2019","unstructured":"Editorial \u201cSpotlight on rare diseases\u201d. Lancet Diabetes Endocrinol. 7, no. 2 (2019). https:\/\/doi.org\/10.1016\/S2213-8587(19)30006-3. p 75","journal-title":"Lancet Diabetes Endocrinol."},{"key":"2652_CR3","unstructured":"The European Registries for Rare Endocrine Conditions (EuRRECa) https:\/\/eurreca.net\/"},{"key":"2652_CR4","unstructured":"Ibid, Data Elements https:\/\/eurreca.net\/data-elements. In addition, List of conditions, October 2020 https:\/\/eurreca.files.wordpress.com\/2020\/09\/eurreca-core-registry-conditions-dictionary-v3.2.xlsx"},{"key":"2652_CR5","unstructured":"Rare Disease UK, Report \u201cIlluminating the Rare Reality\u201d, 2019, Genetic Alliance UK https:\/\/www.raredisease.org.uk\/wp-content\/uploads\/sites\/7\/2019\/02\/Illuminating-the-rare-reality-2019.pdf"},{"key":"2652_CR6","unstructured":"European Society of Endocrinology White Paper Statement: Hormones in European Health Policies: How endocrinologists can contribute towards a healthier Europe. https:\/\/www.ese-hormones.org\/"}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-021-02652-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s12020-021-02652-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-021-02652-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T10:47:31Z","timestamp":1617274051000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s12020-021-02652-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["2652"],"URL":"https:\/\/doi.org\/10.1007\/s12020-021-02652-x","relation":{},"ISSN":["1355-008X","1559-0100"],"issn-type":[{"value":"1355-008X","type":"print"},{"value":"1559-0100","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3]]},"assertion":[{"value":"19 January 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 January 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 March 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}