{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T14:27:56Z","timestamp":1759588076524,"version":"3.40.4"},"reference-count":20,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<b><i>Background:<\/i><\/b> Mutations of the <i>IGFALS<\/i> gene have been reported since 2004 in 24 patients, but only 5 of these are females. <b><i>Case Report:<\/i><\/b> We describe a 14.7-year-old female of a consanguineous Moroccan family with growth retardation and normal-onset but slow progression of puberty without manifest pubertal height gain. <b><i>Results:<\/i><\/b> At age 3.2 years, the patient's height was 85.5 cm (-2.9 SDS) and her weight 9.9 kg (-2.9 SDS) with a head circumference of 44.5 cm (-3.3 SDS). Serum IGF-I and IGFBP-3 concentrations were low with normal basal and stimulated growth hormone (GH) levels. An IGF-I generation test confirmed a lack of response to GH administration. While onset of puberty occurred at a normal age, no significant pubertal growth acceleration was observed despite progression of breast development. Sequencing of the <i>IGFALS<\/i> gene revealed a novel homozygous frameshift mutation (c.1291delT) with a stop codon (p.W431GfsX10) leading to undetectable serum levels of acid-labile subunit. <b><i>Conclusion:<\/i><\/b> We report the phenotype of an adolescent girl with primary IGF-I deficiency due to a novel homozygous mutation of the <i>IGFALS<\/i> gene, who presented with growth delay, normal pubertal onset with slow progression and no pubertal growth acceleration indirectly suggesting a contributing role of the circulating IGF-I pool in the pubertal growth spurt.<\/jats:p>","DOI":"10.1159\/000358329","type":"journal-article","created":{"date-parts":[[2014,5,6]],"date-time":"2014-05-06T06:44:29Z","timestamp":1399358669000},"page":"422-427","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Homozygous Mutation of the <b><i>IGFALS<\/i><\/b> Gene in a Female Adolescent: Indirect Evidence for a Contributing Role of the Circulating IGF-I Pool in the Pubertal Growth Spurt"],"prefix":"10.1159","volume":"81","author":[{"given":"Thekla","family":"Poukoulidou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Kowalczyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lou","family":"Metherell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"De Schepper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Maes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,5,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000184186"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/acta.0.1210753"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.120172697"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000232486"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa013100"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2005-2842"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000098479"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-1152"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2678"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-08-0081"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1159\/000183899"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159\/000308164"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12200"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3109\/03014460903049074"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.3.170"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0489"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016\/0303-7207(87)90093-1"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1172\/JCI20660"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.94"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1530\/JME-12-0086"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/358329","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/358329","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:36:29Z","timestamp":1745433389000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000358329"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2014,7,1]]},"published-print":{"date-parts":[[2014,7,4]]}},"URL":"https:\/\/doi.org\/10.1159\/000358329","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2014]]}}}