{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:33:29Z","timestamp":1783568009427,"version":"3.55.0"},"reference-count":22,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T00:00:00Z","timestamp":1196726400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2007,12,4]],"date-time":"2007-12-04T00:00:00Z","timestamp":1196726400000},"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":[[2008]]},"abstract":"<i>Background:<\/i> POU1F1 is a pituitary transcription factor that plays a pivotal role in pituitary development and expression of the <i>GH<\/i>, <i>PRL<\/i> and <i>TSH<\/i>\u03b2 genes. Therefore, abnormalities of the <i>POU1F1<\/i> gene are known to be responsible for a phenotype causing combined pituitary hormone deficiency (CPHD) involving growth hormone, prolactin and thyrotropin. <i>Methods:<\/i> We described an 18-year-old Thai man, from a consanguineous family, who presented with short stature and cognitive deficit. He underwent endocrinological and molecular investigations. <i>Results:<\/i> Hormonal studies showed that the patient had GH deficiency and secondary hypothyroidism, consistent with CPHD. Direct DNA sequencing revealed a novel homozygous mutation at the splice site of exon 4, IVS4+1G>A. It is the first splice site mutation in the <i>POU1F1<\/i> gene described to date. Of the 7 other family members studied for this mutation by restriction enzyme digestions, 5 were heterozygous. They were all unaffected, suggesting a recessive pattern of inheritance. <i>Conclusions:<\/i> We described a novel <i>POU1F1 <\/i>splice site mutation, IVS4+1G>A, the first of its kind, in a Thai patient with CPHD. Recessive inheritance is suggested. We also noted preventable morbidities which resulted from delay in diagnosis of concomitant pituitary hormone defects in newborns suspected of CPHD.<\/jats:p>","DOI":"10.1159\/000111797","type":"journal-article","created":{"date-parts":[[2007,12,6]],"date-time":"2007-12-06T16:30:31Z","timestamp":1196958631000},"page":"60-64","source":"Crossref","is-referenced-by-count":9,"title":["A Novel Germline Mutation, IVS4+1G>A, of the <i>POU1F1<\/i> Gene Underlying Combined Pituitary Hormone Deficiency"],"prefix":"10.1159","volume":"69","author":[{"given":"Thiti","family":"Snabboon","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanee","family":"Plengpanich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patinat","family":"Buranasupkajorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ratchada","family":"Khwanjaipanich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Padiporn","family":"Vasinanukorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sompongse","family":"Suwanwalaikorn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weerapan","family":"Khovidhunkit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vorasuk","family":"Shotelersuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2007,12,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1062736"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.2001-0030"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159%2F000080493"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2F0378-1119%2892%2990234-G"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2890%2990067-O"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.neuro.24.1.327"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.22.1.2"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2F347528a0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1101%2Fgad.11.2.198"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2005-0570"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2005-2289"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2004.02189.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.2003.01781.x"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.2005-2173"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.9412"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.81.8.2790"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0492-56"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1159%2F000023134"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.4.1545"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016%2FS1096-6374%2803%2900015-7"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.257.5073.1115"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1159%2F000053065"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/111797","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/111797","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T02:20:10Z","timestamp":1745461210000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000111797"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,4]]},"references-count":22,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2007,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000111797","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,4]]}}}