{"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":1789595081450,"version":"build-2803163510"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,7,18]],"date-time":"2006-07-18T00:00:00Z","timestamp":1153180800000},"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":[[2006,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Objective\u2002<\/jats:bold>  <jats:italic>PROP1<\/jats:italic> mutations are the most common cause of genetic combined pituitary hormone deficiency (CPHD). The aim of this study was to investigate the <jats:italic>PROP1<\/jats:italic> gene in two siblings with CPHD.<\/jats:p><jats:p><jats:bold>Design\u2002<\/jats:bold> Pituitary function and imaging assessment and molecular analysis of <jats:italic>PROP1<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Patients\u2002<\/jats:bold> Two siblings, born to consanguineous parents, presented with GH deficiency associated with other pituitary hormone deficiencies (TSH, PRL and gonadotrophins). The male sibling also had an evolving cortisol deficiency.<\/jats:p><jats:p><jats:bold>Methods\u2002<\/jats:bold> Pituitary size was evaluated by magnetic resonance imaging (MRI). <jats:italic>PROP1<\/jats:italic> gene analysis was performed by polymerase chain reaction (PCR), automatic sequencing and Southern blotting. Amplification of sequence tag sites (STS) and the <jats:italic>Q8N6H0<\/jats:italic> gene flanking <jats:italic>PROP1<\/jats:italic> were performed to define the extension of <jats:italic>PROP1<\/jats:italic> deletion.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> MRI revealed a hypoplastic anterior pituitary in the girl at 14\u00a0years and pituitary enlargement in the boy at 18\u00a0years. The <jats:italic>PROP1<\/jats:italic> gene failed to amplify in both siblings, whereas other genes were amplified. Southern blotting analysis revealed the <jats:italic>PROP1<\/jats:italic> band in the controls and confirmed complete <jats:italic>PROP1<\/jats:italic> deletion in both siblings. The extension of the deletion was 18\u00b74\u00a0kb. The region flanking <jats:italic>PROP1<\/jats:italic> contains several Alu core sequences that might have facilitated stem\u2013loop\u2010mediated excision of <jats:italic>PROP1<\/jats:italic>.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> We report here a complete deletion of <jats:italic>PROP1<\/jats:italic> in two siblings with CPHD phenotype.<\/jats:p>","DOI":"10.1111\/j.1365-2265.2006.02592.x","type":"journal-article","created":{"date-parts":[[2006,7,18]],"date-time":"2006-07-18T20:13:03Z","timestamp":1153253583000},"page":"294-300","source":"Crossref","is-referenced-by-count":31,"title":["Combined pituitary hormone deficiency (CPHD) due to a complete <i>PROP1<\/i> deletion"],"prefix":"10.1111","volume":"65","author":[{"given":"M. G.","family":"Abr\u00e3o","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. 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B.","family":"Mendonca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,18]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1062736"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/384327a0"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-147"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.3.942"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.12.4556"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.1.390"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1430347"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.9.3346"},{"key":"e_1_2_5_10_2","doi-asserted-by":"crossref","first-page":"2601","DOI":"10.1210\/jcem.83.7.5094","article-title":"Compound heterozygous deletion of the PROP1 gene in children with combined pituitary hormone deficiency","volume":"83","author":"Fofanova O.","year":"1998","journal-title":"Journal of Clinical Endocrinology and Metabolism"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)01234-4"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.10.3727"},{"key":"e_1_2_5_13_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.1.50"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.5.1645"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.8.2779"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.9.4353"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.9.7811"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2001-011872"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00106.x"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1530\/eje.0.1500257"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2004.02147.x"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-032124"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02291.x"},{"key":"e_1_2_5_24_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-0119"},{"key":"e_1_2_5_25_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.244.755"},{"key":"e_1_2_5_26_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02018614"},{"key":"e_1_2_5_27_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.159.2.1632360"},{"key":"e_1_2_5_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/76041"},{"key":"e_1_2_5_29_2","doi-asserted-by":"publisher","DOI":"10.1086\/323764"},{"key":"e_1_2_5_30_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0661"},{"key":"e_1_2_5_31_2","doi-asserted-by":"publisher","DOI":"10.1210\/me.2004-0341"},{"key":"e_1_2_5_32_2","first-page":"555","article-title":"MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with PROP1 mutations","volume":"174","author":"Fofanova O.","year":"2000","journal-title":"American Journal of Radiology"},{"key":"e_1_2_5_33_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197803302981302"},{"key":"e_1_2_5_34_2","unstructured":"Netchine I. 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