{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T04:58:11Z","timestamp":1789534691520,"version":"build-2803163510"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,8,12]],"date-time":"2008-08-12T00:00:00Z","timestamp":1218499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold> Effect of genetic screening on outcome in multiple endocrine neoplasia type 1 (MEN1) remains unclear. Expression of MEN1 is described using currently available diagnostic techniques. Manifestations and outcome are compared in patients diagnosed because of clinical expression with those diagnosed by genetic screening.<\/jats:p><jats:p><jats:bold>Design\u2002<\/jats:bold> Retrospective cohort study. Patients are divided into two groups: patients with a (i) clinical MEN1 diagnosis and (ii) MEN1 diagnosis by genetic screening.<\/jats:p><jats:p><jats:bold>Patients and measurements\u2002<\/jats:bold> Demographic and clinical data were collected on MEN1 patients treated in the UMCU up to 1 January 2008. Results of mutation analysis were obtained from the Department of Medical Genetics.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> A total of 74 patients was included (median follow\u2010up 5\u00b75\u00a0year); 78% had hyperparathyroidism, 46% a pancreatic neuro\u2010endocrine tumour (NET), 38% a pituitary abnormality, 8% a NET of other origin and 16% an adrenal adenoma at the end of follow\u2010up. Of the patients 18% had no manifestation. All five MEN1\u2010related tumours were seen as first manifestation. Compared with patients identified by genetic screening, patients with a clinical MEN1 diagnosis had significantly more manifestations at diagnosis (<jats:italic>P\u00a0&lt;<\/jats:italic>\u00a00\u00b7001) and at end of follow\u2010up (<jats:italic>P\u00a0=<\/jats:italic>\u00a00\u00b7002). Eleven of 30 patients with a genetic MEN1 diagnosis (mean age at diagnosis 30\u00b70\u00a0years) already had manifestations at diagnosis. No malignancy or death was seen in genetically diagnosed patients.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> MEN1 is a syndrome with high morbidity. Genetic diagnosis is associated with less morbidity at diagnosis and at follow\u2010up. Early genetic diagnosis might therefore lead to improvement of long\u2010term outcome.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2008.03324.x","type":"journal-article","created":{"date-parts":[[2008,8,12]],"date-time":"2008-08-12T08:27:12Z","timestamp":1218529632000},"page":"575-581","source":"Crossref","is-referenced-by-count":92,"title":["Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcome"],"prefix":"10.1111","volume":"70","author":[{"given":"C. R. C.","family":"Pieterman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. M. J.","family":"Schreinemakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. P. F.","family":"Koppeschaar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R.","family":"Vriens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I. H. M. Borel","family":"Rinkes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. A.","family":"Zonnenberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. B.","family":"Van Der Luijt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G. D.","family":"Valk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,3,3]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/301729"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1067\/msy.1998.93107"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.1991.01410320017001"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-73-2-281"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/89.9.653"},{"key":"e_1_2_6_7_2","first-page":"171","article-title":"Multiple endocrine neoplasia type 1","volume":"1","author":"Dreijerink K.M.A.","year":"2004","journal-title":"Nederlands Tijdschrift Oncology"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5311.404"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2362.2000.00664.x"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002680010237"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s002689900438"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1490577"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1590\/S1807-59322007000400014"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.12.8070"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.02022"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.2.8145"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-07-0195"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-970160"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.12.4776"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(87)90008-8"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1989.00390120069014"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1001\/archsurg.137.6.641"}],"container-title":["Clinical Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1365-2265.2008.03324.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1365-2265.2008.03324.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T14:40:42Z","timestamp":1697208042000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1365-2265.2008.03324.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,3]]},"references-count":21,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1111\/j.1365-2265.2008.03324.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1365-2265.2008.03324.x","archive":["Portico"],"relation":{},"ISSN":["0300-0664","1365-2265"],"issn-type":[{"value":"0300-0664","type":"print"},{"value":"1365-2265","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,3]]}}}