{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,20]],"date-time":"2026-05-20T03:29:50Z","timestamp":1779247790244,"version":"3.51.4"},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,4,27]],"date-time":"2013-04-27T00:00:00Z","timestamp":1367020800000},"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":[[2013,7]]},"abstract":"Summary<\/jats:title>Objectives<\/jats:title>Pituitary stalk interruption syndrome (PSIS<\/jats:styled-content>) is rare and its clinical features and pathogenesis are poorly understood. This study characterized the clinical and genetic features of PSIS<\/jats:styled-content> in Chinese patients.<\/jats:p><\/jats:sec>Design and patients<\/jats:title>Clinical data of 58 patients with PSIS<\/jats:styled-content> and 46 patients with GH<\/jats:styled-content> deficiency but a normal pituitary stalk (NPS<\/jats:styled-content>) were retrospectively analysed. HESX<\/jats:styled-content>1<\/jats:italic>, LHX<\/jats:styled-content>4<\/jats:italic>, OTX<\/jats:styled-content>2<\/jats:italic> and SOX<\/jats:styled-content>3<\/jats:italic> polymorphisms were screened in 33 PSIS<\/jats:styled-content> patients, and GH<\/jats:styled-content>1<\/jats:italic> and GHRHR<\/jats:styled-content><\/jats:italic> in 4 NPS<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>Results<\/jats:title>Deficiency of GH<\/jats:styled-content> was 100% in both PSIS<\/jats:styled-content> and NPS<\/jats:styled-content> groups. Other deficiency rates for PSIS<\/jats:styled-content> and NPS<\/jats:styled-content> groups were as follows: ACTH<\/jats:styled-content>, 77\u00b76% and 23\u00b79%; TSH<\/jats:styled-content>, 43\u00b71% and 10\u00b79%; LH<\/jats:styled-content>\/FSH<\/jats:styled-content>, 94\u00b72% and 47\u00b74%; and combined pituitary hormone, 93\u00b71% and 41\u00b73% respectively. In PSIS<\/jats:styled-content> and NPS<\/jats:styled-content> patients, the percentages of anterior pituitary hypoplasia were 98\u00b73% and 54\u00b73%, pituitary stalk abnormality were 100% and 0%, and ectopic neurohypophysis were 91\u00b74% and 0%. A novel heterozygous sequence variant (c.142A>T, p.T48S) was found in HESX<\/jats:styled-content>1<\/jats:italic> in one PSIS<\/jats:styled-content> patient, 3 polymorphisms (c.63T>C, p.G21G; c.450C>T, p.N150N; and c.983A>G, p.N328S) in LHX<\/jats:styled-content>4<\/jats:italic> in 7, 1 and 31 PSIS<\/jats:styled-content> patients, respectively, and a hemizygous polymorphism (c.157G>C, p.V53L) in SOX<\/jats:styled-content>3<\/jats:italic> in one PSIS<\/jats:styled-content> patient. No OTX<\/jats:styled-content>2<\/jats:italic> abnormality was detected in PSIS<\/jats:styled-content> patients, and no GH<\/jats:styled-content>1<\/jats:italic> or GHRHR<\/jats:styled-content><\/jats:italic> polymorphisms in NPS<\/jats:styled-content> patients.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Compared with NPS<\/jats:styled-content>, PSIS<\/jats:styled-content> patients had more severe anterior pituitary hormone deficiency, lower anterior pituitary hormone secretion and higher probability of abnormal pituitary morphology. HESX<\/jats:styled-content>1<\/jats:italic>, LHX<\/jats:styled-content>4<\/jats:italic> and SOX<\/jats:styled-content>3<\/jats:italic> polymorphisms may be associated with PSIS<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/cen.12116","type":"journal-article","created":{"date-parts":[[2012,12,1]],"date-time":"2012-12-01T06:28:12Z","timestamp":1354343292000},"page":"86-92","source":"Crossref","is-referenced-by-count":26,"title":["Pituitary stalk interruption syndrome in 58 C<\/scp>hinese patients: clinical features and genetic analysis"],"prefix":"10.1111","volume":"79","author":[{"given":"Yan","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qing\u2010hua","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bao\u2010an","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing\u2010tao","family":"Dou","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhao\u2010hui","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian\u2010ming","family":"Ba","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ju\u2010ming","family":"Lu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang\u2010yu","family":"Pan","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi\u2010ming","family":"Mu","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Chinese PLA General Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0016367"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.03155.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0892"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000089425"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.03.001"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.10.3450"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2006.12.007"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2006.02484.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2173"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03345541"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02289.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2006.02692.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0820-9"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1086\/430134"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2008.21.7.673"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81955-9"},{"key":"e_1_2_6_18_1","first-page":"487","article-title":"Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18\u00a0years","volume":"47","author":"Li H.","year":"2009","journal-title":"Zhonghua Er Ke Za Zhi. 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