{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:50:11Z","timestamp":1745470211316,"version":"3.40.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"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":[[2009]]},"abstract":"<i>Background\/Aims:<\/i> X-linked adrenal hypoplasia congenita (AHC) is typically associated with <i>DAX-1<\/i> mutations and hypogonadotropic hypogonadism. However, atypical cases of X-linked AHC in association with central precocious puberty and even normal puberty have rarely been reported, although the mechanism of action remains unknown. <i>Case Report:<\/i> This is a case report of a boy with X-linked AHC associated with Duchenne muscular dystrophy, whose clinical presentation led to analysis of the <i>DAX-1<\/i>, glycerol kinase (<i>GK1)<\/i> and dystrophin genes, which were amplified by polymerase chain reaction, with Southern blot analysis of the AHC locus. <i>Results:<\/i> There was a non-contiguous deletion of the <i>DAX-1<\/i> and <i>GK1<\/i> genes, with deletion of the dystrophingene from exons 3 to 79. <i>Conclusion:<\/i> This is the first report of X-linked AHC, central precocious puberty in the absence of the <i>DAX-1<\/i> gene. The fact that a \u2018loss of function\u2019 <i>DAX-1<\/i> mutation can be associated with hypogonadotropic hypogonadism, precocious and normal puberty, suggests that DAX-1 is but one of several transcription factors which regulate puberty, and provides further evidence that other transcription factors may interact with DAX-1 and influence gonadal regulation in a complex, but hierarchical fashion.<\/jats:p>","DOI":"10.1159\/000208804","type":"journal-article","created":{"date-parts":[[2009,4,2]],"date-time":"2009-04-02T14:14:27Z","timestamp":1238681667000},"page":"298-304","source":"Crossref","is-referenced-by-count":10,"title":["A Case of X-Linked Adrenal Hypoplasia Congenita, Central Precocious Puberty and Absence of the <i>DAX-1<\/i> Gene: Implications for Pubertal Regulation"],"prefix":"10.1159","volume":"71","author":[{"given":"Kah-Yin","family":"Loke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larry Kok-Seng","family":"Poh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Warren Wei-Rhen","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Poh-San","family":"Lai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2009,4,1]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F1.8.579"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1006%2Fgeno.1993.1204"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0894-497"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2F372635a0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2F372672a0"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI118866"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00205170"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.56.8.633"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.9.4068"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.12.4497"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2898%2970242-2"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.84.12.4335"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.87.1.41"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/208804","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/208804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T23:53:04Z","timestamp":1745452384000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000208804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009]]},"references-count":13,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2009,5,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000208804","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2009]]}}}