{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T16:17:40Z","timestamp":1789834660593,"version":"4.0.1"},"reference-count":30,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2010]]},"abstract":"<i>Background\/Aims:<\/i> Mutation frequencies of genes involved in combined pituitary hormone deficiency (CPHD) vary substantially between populations. The HYPOPIT study aims to obtain an overall picture of known and new genetic defects and variations in a nationwide cohort of Dutch (mostly) sporadic CPHD patients. <i>Methods:<\/i> We screened 79 CPHD patients from 78 families (regardless of MRI and hormonal phenotype) for mutations and deletions in <i>PROP1, HESX1, POU1F1, LHX3 <\/i>and<i> LHX4<\/i>, as well as the P89L and IVS3+1\/+2 mutations in <i>GH1<\/i>, recently described to cause pituitary hormone impairment in addition to GH deficiency. <i>Results:<\/i> We did not find any mutation or deletion in <i>PROP1, HESX1, LHX3<\/i> or<i> LHX4, <\/i>nor <i>GH1<\/i> P89L and <i>GH1 <\/i>IVS3+1\/+2 mutations. Among 12 patients with a typical \u2018<i>POU1F1<\/i> phenotype\u2019, 1 patient was formerly known to have a <i>POU1F1<\/i> mutation. This results in a <i>POU1F1 <\/i>mutation frequency in these patients of 8.3%. <i>Conclusion:<\/i> Thorough screening for mutations and deletions in <i>PROP1, HESX1, POU1F1<\/i>, <i>LHX3, LHX4,<\/i> as well as screening for <i>GH1 <\/i>P89L or <i>GH1<\/i> IVS3+1\/+2 mutations, did not reveal any genetic defect in our cohort of CPHD patients except for one formerly known <i>POU1F1<\/i> mutation in 1 patient. Future research should focus on alternative explanations for CPHD, like other genes or environmental factors.<\/jats:p>","DOI":"10.1159\/000308169","type":"journal-article","created":{"date-parts":[[2010,4,14]],"date-time":"2010-04-14T06:58:14Z","timestamp":1271228294000},"page":"363-371","source":"Crossref","is-referenced-by-count":30,"title":["<i>PROP1, HESX1, POU1F1, LHX3 <\/i>and<i> LHX4<\/i> Mutation and Deletion Screening and <i>GH1 <\/i>P89L and IVS3+1\/+2 Mutation Screening in a Dutch Nationwide Cohort of Patients with Combined Pituitary Hormone Deficiency"],"prefix":"10.1159","volume":"73","author":[{"given":"Laura C.G.","family":"de Graaff","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"Argente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle C.M.","family":"Veenma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine L.","family":"Drent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9 G.","family":"Uitterlinden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita C.S.","family":"Hokken-Koelega","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,4,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1152%2Fphysrev.00006.2006"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F477"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2FS0014-5793%2898%2901234-4"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086%2F323764"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2F76041"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2F0006-291X%2892%2992281-2"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F10.1.39"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0298-147"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2004-1280"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210%2Fme.13.12.2212"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.257.5073.1118"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2005-0570"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159%2F000074245"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.2003.01781.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2004.02189.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2005.02291.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ejhg.5200409"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002%2F1098-1004%28200006%2915%3A6%3C556%3A%3AAID-HUMU7%3E3.0.CO%3B2-C"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007%2Fs004390051066"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1089%2Fgte.1997.1.237"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1998.5411"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2001-011936"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2005-2173"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1530%2Feje.1.01989"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.9.4529"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2006.02617.x"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.5.1645"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1023%2FA%3A1009918924945"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2006-1609"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819980605%2977%3A5%3C360%3A%3AAID-AJMG4%3E3.0.CO%3B2-R"}],"container-title":["Hormone 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