{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T06:21:00Z","timestamp":1787725260567,"version":"build-2784847793"},"reference-count":20,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2019]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Heterozygous mutations or haploinsufficiency of &lt;i&gt;NKX2-1&lt;\/i&gt; are associated with the brain-lung-thyroid syndrome incorporating primary hypothyroidism, respiratory distress, and neurological disturbances. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; We report a patient presenting in the neonatal period with multiple pituitary hormone deficiency including central hypothyroidism and hypoadrenalism, growth hormone deficiency, undetectable gonadotrophins, and a small anterior pituitary on MRI. CGH microarray revealed haploinsufficiency for &lt;i&gt;NKX2.1&lt;\/i&gt; and during subsequent follow-up, she has exhibited the classic triad of brain-lung-thyroid syndrome with undetectable tissue on thyroid ultrasonography. Whilst the role of NKX2-1 is well described in murine pituitary development, this report constitutes the first description of multiple pituitary dysfunction in humans associated with the syndrome and haploinsufficiency &lt;i&gt;NKX2-1&lt;\/i&gt;. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; The report highlights a potential need for pituitary screening in patients with established brain-lung-thyroid syndrome and implicates &lt;i&gt;NKX2.1&lt;\/i&gt; in human pituitary disease. <\/jats:p>","DOI":"10.1159\/000503683","type":"journal-article","created":{"date-parts":[[2019,11,8]],"date-time":"2019-11-08T22:00:30Z","timestamp":1573250430000},"page":"340-344","source":"Crossref","is-referenced-by-count":13,"title":["Haploinsufficiency of &lt;b&gt;&lt;i&gt;NKX2-1&lt;\/i&gt;&lt;\/b&gt; in Brain-Lung-Thyroid Syndrome with Additional Multiple Pituitary Dysfunction"],"prefix":"10.1159","volume":"92","author":[{"given":"Rathi","family":"Prasad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adeline\u00a0K.","family":"Nicholas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Schoenmakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Barton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,11,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102248"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.1.60"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.44.26649"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/me.2005-0327"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1989.tb08391.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.22.10171-10182.2005"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.11.10.4927"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.01133-06"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.59.4.579"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196706012762202"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.57.1.106"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1172\/JCI0214341"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00335"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2008.0085"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/mds.23065"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-014-0570-7"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-11-9"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/en.2017-00581"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0454"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0176"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/503683","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/503683","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:02:51Z","timestamp":1745424171000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000503683"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":20,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2020,4,29]]},"published-print":{"date-parts":[[2020,5,4]]}},"URL":"https:\/\/doi.org\/10.1159\/000503683","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}