{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T21:44:41Z","timestamp":1789595081672,"version":"build-2803163510"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,11,7]],"date-time":"2006-11-07T00:00:00Z","timestamp":1162857600000},"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":[[2007,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold>  <jats:italic>LHX4<\/jats:italic> and <jats:italic>HESX1<\/jats:italic> are important in early stages of pituitary development and their mutations can be associated with an ectopic posterior lobe (EPL) in the pituitary of patients with hypopituitarism. The EPL can be located at the median eminence or at the path of the pituitary stalk. The aim of this study was to analyse <jats:italic>LHX4<\/jats:italic> and <jats:italic>HESX1<\/jats:italic> and characterize the hormonal deficiency profiles, establishing relationships with magnetic resonance imaging (MRI) findings in these patients.<\/jats:p><jats:p><jats:bold>Patients and design\u2002<\/jats:bold> Sixty\u2010two patients with hypopituitarism associated with EPL were submitted to evaluation of pituitary function, analysis of MRI with EPL location and molecular analysis of <jats:italic>LHX4<\/jats:italic> and <jats:italic>HESX1<\/jats:italic> using polymerase chain reaction (PCR), digestion with restriction enzyme and automatic sequencing.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> Forty\u2010two patients had a nonvisualized pituitary stalk (NPS), and 20 a visualized pituitary stalk (VPS). Most patients (95%) with NPS had combined pituitary hormone deficiency (CPHD), with ACTH deficiency in 85%. In patients with VPS, CPHD was found in 50% and ACTH deficiency occurred in only 20%. The frequency of the location of EPL was similar in patients with VPS and NPS: 35% at median eminence and 65% at the path of the stalk. No mutations in <jats:italic>LHX4<\/jats:italic> and <jats:italic>HESX1<\/jats:italic> were identified. Three new polymorphisms in <jats:italic>LHX4<\/jats:italic> were found.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> ACTH deficiency is frequent in patients with hypopituitarism and NPS (85%), the location of EPL at the median eminence was not predictive of the hormonal profile [isolated GH deficiency (IGHD) or CPHD], and <jats:italic>LHX4<\/jats:italic> and <jats:italic>HESX1<\/jats:italic> genes mutations remain rare causes of hypopituitarism associated with EPL.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02692.x","type":"journal-article","created":{"date-parts":[[2006,11,7]],"date-time":"2006-11-07T08:36:26Z","timestamp":1162888586000},"page":"95-102","source":"Crossref","is-referenced-by-count":35,"title":["Hormonal, pituitary magnetic resonance, <i>LHX4<\/i> and <i>HESX1<\/i> evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe"],"prefix":"10.1111","volume":"66","author":[{"given":"Maria Edna","family":"Melo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suemi","family":"Marui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciani Renata","family":"Carvalho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivo Jorge Prado","family":"Arnhold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Costa","family":"Leite","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berenice Bilharinho","family":"Mendon\u00e7a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirta","family":"Knoepfelmacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,11,7]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.23.4835"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1086\/323764"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/477"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2001-011936"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.165.2.3659371"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0953-8194.2004.01183.x"},{"key":"e_1_2_6_8_2","doi-asserted-by":"crossref","first-page":"2408","DOI":"10.1210\/jcem.84.7.5849","article-title":"Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function","volume":"84","author":"Chen S.","year":"1999","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1274"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI18589"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1086\/430134"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.24.5189"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.278.5344.1809"},{"key":"e_1_2_6_14_2","doi-asserted-by":"crossref","first-page":"4229","DOI":"10.1242\/dev.129.18.4229","article-title":"Lhx4 and Prop1 are required for cell survival and expansion of the pituitary primordia","volume":"129","author":"Raetzman L.T.","year":"2002","journal-title":"Development"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107021"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.10.3539"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1159\/000070222"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.01089.x"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02018614"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.159.2.1632360"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-198511000-00005"},{"key":"e_1_2_6_23_2","first-page":"155","article-title":"Idiopathic growth hormone deficiency: MR findings in 35 patients","volume":"12","author":"Abrahams J.J.","year":"1991","journal-title":"American Journal of Neuroradiology"},{"key":"e_1_2_6_24_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.10.3450"},{"key":"e_1_2_6_25_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-67-4-817"},{"key":"e_1_2_6_26_2","first-page":"453","article-title":"Posterior pituitary ectopia: an MR feature of pituitary dwarfism","volume":"9","author":"Kelly W.M.","year":"1988","journal-title":"AJNR. 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