{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:09:13Z","timestamp":1761718153832,"version":"3.40.4"},"reference-count":15,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2010,10,22]],"date-time":"2010-10-22T00:00:00Z","timestamp":1287705600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,10,22]],"date-time":"2010-10-22T00:00:00Z","timestamp":1287705600000},"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":[[2011]]},"abstract":"<jats:p>&lt;i&gt;Background\/Aims:&lt;\/i&gt; X-linked adrenal hypoplasia congenita (AHC) is typically characterized by a DAX-1 gene mutation and hypogonadotropic hypogonadism. However, rare cases with precocious puberty or normal puberty have been reported. Currently, the mechanism of action of the DAX-1 gene on puberty is not clearly known. &lt;i&gt;Case Report:&lt;\/i&gt; We report a male who was diagnosed as having AHC in the newborn period and detected as having stop codon Q155 X mutation in the DAX-1 gene. This subject developed central precocious puberty when he was 9 months old. &lt;i&gt;Results:&lt;\/i&gt; This paper is the first case report of AHC, central precocious puberty and a mutation in the DAX-1 gene. DAX-1 gene mutations can result in various phenotypes. &lt;i&gt;Conclusion:&lt;\/i&gt; In cases with AHC, central precocious puberty can develop rather than hypogonadotropic hypogonadism, which is the most frequently observed puberty disorder related to DAX-1 gene mutations.<\/jats:p>","DOI":"10.1159\/000320701","type":"journal-article","created":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T09:09:14Z","timestamp":1288602554000},"page":"153-156","source":"Crossref","is-referenced-by-count":22,"title":["Gonadotropin-Dependent Precocious Puberty in a Patient with X-Linked Adrenal Hypoplasia Congenita Caused by a Novel DAX-1 Mutation"],"prefix":"10.1159","volume":"75","author":[{"given":"Sukran","family":"Darcan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damla","family":"Goksen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samim","family":"Ozen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ferda","family":"Ozkinay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burak","family":"Durmaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enzo","family":"Lalli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,10,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038%2F372635a0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210%2Fjcem-58-1-12"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038%2F372672a0"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.2000.01116.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.83.8.2666"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.9.4068"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159%2F000208804"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1067%2Fmpd.2000.108567"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016%2FS1096-7192%2802%2900198-1"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.87.1.44"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016%2FS0022-3476%2897%2970218-X"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136%2Fadc.56.8.633"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159%2F000099835"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.1225"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2FS0303-7207%2801%2900619-0"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/320701","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/320701","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:53:33Z","timestamp":1745438013000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000320701"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,10,22]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2011,2,1]]},"published-print":{"date-parts":[[2011,2,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000320701","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2010,10,22]]}}}