{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,17]],"date-time":"2026-03-17T07:44:17Z","timestamp":1773733457661,"version":"3.50.1"},"reference-count":24,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T00:00:00Z","timestamp":1686700800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T00:00:00Z","timestamp":1686700800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2024]]},"abstract":"<b><i>Introduction:<\/i><\/b> Genetic forms of growth hormone deficiency (GHD) may occur as isolated GHD (IGHD) or as a component of multiple pituitary hormone deficiency (MPHD). This study aimed to present the clinical and molecular characteristics of patients with IGHD\/MPHD due to the <i>GH1<\/i> gene variants. <b><i>Methods:<\/i><\/b> A gene panel accommodating 25 genes associated with MPHD and short stature was used to search for small sequence variants. Multiplex ligation-dependent probe amplification was performed in patients with normal panel results to investigate gross deletion\/duplications. Segregation in the family was performed by Sanger sequencing. <b><i>Results:<\/i><\/b> The <i>GH1<\/i> gene variants were detected in 5 patients from four unrelated families. One patient had IGHD IA due to homozygous whole <i>GH1<\/i> gene deletion and one had IGHD IB due to <i>novel<\/i> homozygous c.162C&gt;G\/p.(Tyr54*) variant. Two patients from a family had previously reported heterozygous c.291+1G&gt;A\/p.(?) variant in which clinical and genetic characteristics were compatible with IGHD II accompanying MPHD. One patient had clinical and laboratory characteristics of IGHD II with MPHD but the heterozygous c.468 C&gt;T\/p.(R160W) variant had conflicting results about the relationship with the phenotype. <b><i>Conclusion:<\/i><\/b> Expanding our knowledge of the spectrum of <i>GH1<\/i> gene variants by apprehending clinical and molecular data of more cases, helps to identify the genotype-phenotype correlation of IGHD\/MPHD and the <i>GH1<\/i> gene variants. These patients must be regularly followed up for the occurrence of additional pituitary hormone deficiencies. <\/jats:p>","DOI":"10.1159\/000531113","type":"journal-article","created":{"date-parts":[[2023,6,15]],"date-time":"2023-06-15T21:00:33Z","timestamp":1686862833000},"page":"126-133","source":"Crossref","is-referenced-by-count":4,"title":["Phenotype-Genotype Correlations of <i>GH1<\/i> Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency"],"prefix":"10.1159","volume":"97","author":[{"given":"Ay\u015fe P\u0131nar","family":"\u00d6zt\u00fcrk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra","family":"Yavas Abali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ay\u00e7a Dilruba","family":"Aslanger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Firdevs","family":"Bas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00fcven","family":"Toksoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volkan","family":"Karaman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulandam","family":"Bagirova","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sukran","family":"Poyrazoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feyza","family":"Darendeliler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,6,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ghir.2016.04.001"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.v2i2.52"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkac1072"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.10.6372"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2010.147"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1205"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2183"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2019.2019.0127"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10212"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-2308-7"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkz972"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21438"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2018-02288"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2009-0746"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1007\/s11102-020-01078-4"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1590\/s0004-27302012000800016"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-199205000-00026"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2016.09.005"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1159\/000334643"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.8.7757"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.02041"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-0949-x"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-1280"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/97\/2\/126\/4190718\/000531113.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/97\/2\/126\/4190718\/000531113.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:31:35Z","timestamp":1745422295000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000531113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,14]]},"references-count":24,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,4,8]]},"published-print":{"date-parts":[[2024,4,10]]}},"URL":"https:\/\/doi.org\/10.1159\/000531113","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,6,14]]}}}