{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:02:21Z","timestamp":1760781741846,"version":"3.40.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2013]]},"abstract":"<jats:p>17-\u03b2-Hydroxysteroid dehydrogenase type 3 deficiency is a rare autosomal recessive cause of 46,XY disorder of sex development. Worldwide, about 30 mutations in the hydroxysteroid (17-beta) dehydrogenase 3 &lt;i&gt;(HSD17B3)&lt;\/i&gt; gene have been reported, involving all exons except exon 1. Herein, we investigated an Egyptian female with 46,XY karyotype and low testosterone\/&amp;#x0394;4-androstenedione ratio. Genomic DNA was extracted from blood samples, and then, direct DNA sequencing of &lt;i&gt;HSD17B3&lt;\/i&gt; gene was performed. The patient had a homozygous mutation c.198G&gt;A in exon 1 resulting in a stop codon (p.W50X). The study presents the first mutation to be reported in exon 1 of the &lt;i&gt;HSD17B3&lt;\/i&gt; gene.<\/jats:p>","DOI":"10.1159\/000351822","type":"journal-article","created":{"date-parts":[[2013,6,18]],"date-time":"2013-06-18T08:30:35Z","timestamp":1371544235000},"page":"277-281","source":"Crossref","is-referenced-by-count":8,"title":["A Novel Nonsense Mutation in Exon 1 of &lt;b&gt;&lt;i&gt;HSD17B3&lt;\/i&gt;&lt;\/b&gt; Gene in an Egyptian 46,XY Adult Female Presenting with Primary Amenorrhea"],"prefix":"10.1159","volume":"7","author":[{"given":"H.A.","family":"Hassan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Mazen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y.Z.","family":"Gad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.S.M.","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mekkawy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.L.","family":"Essawi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2013,6,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2012-0009"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1743-6109.2012.02763.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1590\/S0004-27302012000800012"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1989.tb02236.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.2000.01166.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-34"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000318004"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3109\/09513590.2010.544134"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02829.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1159\/000313588"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.03.031"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1159\/000335006"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2011.07.005"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/351822","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/351822","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:30:39Z","timestamp":1745433039000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000351822"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":13,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2013,12,1]]},"published-print":{"date-parts":[[2013,12,16]]}},"URL":"https:\/\/doi.org\/10.1159\/000351822","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"type":"print","value":"1661-5425"},{"type":"electronic","value":"1661-5433"}],"subject":[],"published":{"date-parts":[[2013]]}}}