{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T15:58:51Z","timestamp":1758124731171,"version":"3.40.4"},"reference-count":5,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2003,1,1]],"date-time":"2003-01-01T00:00:00Z","timestamp":1041379200000},"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":[[2003]]},"abstract":"<jats:p>&lt;i&gt;Objective:&lt;\/i&gt; To describe the clinical, biological and molecular data in a large Egyptian kindred with 5\u03b1-reductase deficiency. &lt;i&gt;Patients and Methods:&lt;\/i&gt; Three patients with ambiguous genitalia were referred at the ages of 20, 9 and 2 years, respectively. In all cases, parents were first cousins. Basal and post-HCG stimulation plasma levels of testosterone and dihydrotestosterone were determined. Direct sequencing and restriction site analysis were applied for patient and family study. &lt;i&gt;Results:&lt;\/i&gt; A homozygous alanine to glutamic acid substitution at position 62 (A62E) was found in the three patients. The parents and two XX sisters were heterozygous while a third XX sibling was normal. &lt;i&gt;Conclusion:&lt;\/i&gt; We report a new mutation of the 5\u03b1-reductase type 2 gene. The presence of this mutation in all studied patients and their parents suggests its causative role in 5\u03b1-reductase deficiency. Identification of the mutation enabled genetic counselling for three XX individuals.<\/jats:p>","DOI":"10.1159\/000070626","type":"journal-article","created":{"date-parts":[[2003,6,13]],"date-time":"2003-06-13T07:08:23Z","timestamp":1055488103000},"page":"281-284","source":"Crossref","is-referenced-by-count":11,"title":["A New Mutation of 5-Alpha-Reductase Type 2 (A62E) in a Large Egyptian Kindred"],"prefix":"10.1159","volume":"59","author":[{"given":"Mona","family":"Hafez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inas","family":"Mazen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isis","family":"Ghali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Sultan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serge","family":"Lumbroso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2003,6,5]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/er.14.5.577"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/354159a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-35386"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.80.7.2149"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<223::AID-AJMG39>3.0.CO;2-O"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/70626","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/70626","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T03:22:43Z","timestamp":1745464963000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000070626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003]]},"references-count":5,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2003,7,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000070626","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2003]]}}}