{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:23Z","timestamp":1791353543744,"version":"4.3.1"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T00:00:00Z","timestamp":1384905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T00:00:00Z","timestamp":1384905600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Background\/Aims: Missense, nonsense, and splice mutations in the Fibroblast Growth Factor 8(FGF8) have recently been identified in patients with hypothalamo-pituitary dysfunction and craniofacial anomalies. Here, we report a male patient with a frameshift mutation in FGF8. Case Report: The patient exhibited micropenis, craniofacial anomalies, and ventricular septal defect at birth. Clinical evaluation at 16 years and 8 months of age revealed delayed puberty, hyposmia, borderline mental retardation, and mild hearing difficulty. Endocrine findings included gonadotropin deficiency and primary hypothyroidism. Results: Molecular analysis identified a de novo heterozygous p.S192fsX204 mutation in the last exon of FGF8. RT-PCR analysis of normal human tissues detected FGF8 expression in the genital skin, and whole-mount in situ hybridization analysis of mouse embryos revealed Fgf8 expression in the anlage of the penis. Conclusion: The results indicate that frameshift mutations in FGF8 account for a part of the etiology of hypothalamo-pituitary dysfunction. Micropenis in patients with FGF8 abnormalities appears to be caused by gonadotropin deficiency and defective outgrowth of the anlage of the penis.<\/jats:p>","DOI":"10.1159\/000355380","type":"journal-article","created":{"date-parts":[[2013,11,20]],"date-time":"2013-11-20T13:12:37Z","timestamp":1384953157000},"page":"139-144","source":"Crossref","is-referenced-by-count":8,"title":["De novo Frameshift Mutation in Fibroblast Growth Factor 8 in a Male Patient with Gonadotropin Deficiency"],"prefix":"10.1159","volume":"81","author":[{"given":"Erina","family":"Suzuki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuichi","family":"Yatsuga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Igarashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mami","family":"Miyado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiko","family":"Nakabayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichirou","family":"Hata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akihiro","family":"Umezawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2013,11,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.008"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.06603-11"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2011.05.042"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1172\/JCI34538"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-0454"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2938"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1009622107"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0176"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000302285"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/147893"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2006.05.005"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1242\/dev.025437"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02872"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.109.201665"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.01.014"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-136"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/81\/2\/139\/3893820\/000355380.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/hrp\/article-pdf\/81\/2\/139\/3893820\/000355380.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:08:05Z","timestamp":1745431685000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000355380"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,20]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,3,1]]},"published-print":{"date-parts":[[2014,3,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000355380","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,20]]}}}