{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T21:27:41Z","timestamp":1758403661903,"version":"3.37.3"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2023,8,1]],"date-time":"2023-08-01T00:00:00Z","timestamp":1690848000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100012331","name":"Leo Foundation","doi-asserted-by":"publisher","award":["LF-OC-19-000088"],"award-info":[{"award-number":["LF-OC-19-000088"]}],"id":[{"id":"10.13039\/501100012331","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>Previous studies have found that neurofibromatosis 1 (NF1) is associated with an increased risk for endocrine disorders, but no comprehensive overview of the risk for specific endocrine disorders has been published. We assessed endocrine morbidity in individuals with NF1 from information on hospital admissions, surgery for endocrine disorders, and relevant medication.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design<\/jats:title>\n                  <jats:p>A nationwide population registry-based cohort study.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We identified 2467 individuals with NF1 diagnosed between 1977 and 2013 from the Danish National Patient Register and the RAREDIS database and 20 132 randomly sampled age- and sex-matched population comparisons. Information on endocrine diseases was identified using registrations of discharge diagnoses, surgery, and medication prescriptions. The rates of endocrine disorders in individuals with NF1 were compared with those in the comparison cohort in Cox proportional hazard models.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Individuals with NF1 had a higher rate than the comparison group of any endocrine discharge diagnosis (hazard ratio [HR] 1.72, 95% confidence interval [CI]: 1.58-1.87), endocrine-related surgery (2.03, 1.39-2.96), and prescribed medications (1.32, 1.23-1.42). Increased HRs were observed for diseases and surgical operations of several glands, including pheochromocytoma, and for osteoporosis, and osteoporotic fractures. Decreased rates were observed with drugs for type 2 diabetes. Women with NF1 had higher HRs for surgery of the ovaries, uterus, and sterilization, but lower rates of surgeries of cervix and prescriptions for birth control pills.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Neurofibromatosis 1 is associated with a variety of endocrine disorders, surgery, and medication related to endocrine disease. Awareness of endocrine morbidity is important in the clinical follow-up of individuals with NF1.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ejendo\/lvad101","type":"journal-article","created":{"date-parts":[[2023,8,4]],"date-time":"2023-08-04T12:57:18Z","timestamp":1691153838000},"page":"190-198","source":"Crossref","is-referenced-by-count":2,"title":["Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study"],"prefix":"10.1093","volume":"189","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3584-6570","authenticated-orcid":false,"given":"Line","family":"Kenborg","sequence":"first","affiliation":[{"name":"Childhood Cancer Research Group, Danish Cancer Society Research Center , 2100 Copenhagen E , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7104-7824","authenticated-orcid":false,"given":"Andreas","family":"Ebbehoj","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus N , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilie","family":"Ejerskov","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Department of Paediatric and Adolescent Medicine, Aarhus University Hospital , 8200 Aarhus N , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mette M\u00f8ller","family":"Handrup","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Department of Paediatric and Adolescent Medicine, Aarhus University Hospital , 8200 Aarhus N , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R","family":"\u00d8stergaard","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Department of Paediatric and Adolescent Medicine, Aarhus University Hospital , 8200 Aarhus N , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanne","family":"Hove","sequence":"additional","affiliation":[{"name":"The RAREDIS Database, Centre for Rare Diseases, Department of Paediatrics, Copenhagen University Hospital , 2100 Copenhagen E , Denmark"},{"name":"Centre for Rare Diseases, Department of Paediatrics, Rigshospitalet , 2100 Copenhagen E , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karoline","family":"Doser","sequence":"additional","affiliation":[{"name":"Childhood Cancer Research Group, Danish Cancer Society Research Center , 2100 Copenhagen E , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1928-845X","authenticated-orcid":false,"given":"Anja","family":"Kr\u00f8yer","sequence":"additional","affiliation":[{"name":"Childhood Cancer Research Group, Danish Cancer Society Research Center , 2100 Copenhagen E , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John J","family":"Mulvihill","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Oklahoma , Norman, OK 73019-3073 , United States"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeanette F","family":"Winther","sequence":"additional","affiliation":[{"name":"Childhood Cancer Research Group, Danish Cancer Society Research Center , 2100 Copenhagen E , Denmark"},{"name":"Faculty of Health, Department of Clinical Medicine, Aarhus University and University Hospital , 8200 Aarhus N , Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kirstine","family":"Stochholm","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Internal Medicine, Aarhus University Hospital , 8200 Aarhus N , 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