{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T16:03:31Z","timestamp":1790352211219,"version":"4.1.0"},"reference-count":21,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"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":[[2010]]},"abstract":"<i>Aims:<\/i> The aim of this study was to perform a 5\u03b1-reductase type 2 gene <i>(SRD5A2)<\/i> analysis in 6 Korean patients with external genitalia ranging from predominantly female to male in whom 5\u03b1-reductase type 2 deficiency was suspected. <i>Patients:<\/i> Six patients from five unrelated families participated, and all of their parents were non-consanguineous. Three patients presented with ambiguous genitalia at birth, and 2 were referred owing to delayed puberty. The other patient was presented incidentally during an operation for inguinal hernia. Basal and post-human chorionic gonadotropin-stimulated serum testosterone and dihydrotestosterone levels were determined, but neither the levels nor ratio yielded enough information for differential diagnosis. Confirmative diagnosis was achieved by <i>SRD5A2<\/i> gene analysis. <i>Results:<\/i> Four different pathologic mutations were identified. All have already been reported, and are located in exon 1 (p.Q6X), exon 4 (p.G203S and c.655delT), and exon 5 (p.R246Q). p.R246Q was the most frequently identified mutation in our study, and c.655delT has been detected only in Korean patients to date. <i>Conclusion:<\/i> The molecular analysis is the most reliable method for a correct diagnosis of 5\u03b1-reductase type 2 deficiency. Identification of mutations also enables genetic counseling for families at risk.<\/jats:p>","DOI":"10.1159\/000271915","type":"journal-article","created":{"date-parts":[[2010,1,15]],"date-time":"2010-01-15T08:25:59Z","timestamp":1263543959000},"page":"41-48","source":"Crossref","is-referenced-by-count":28,"title":["Clinical Characterization and Analysis of the <i>SRD5A2 <\/i>Gene in Six Korean Patients with 5\u03b1-Reductase Type 2 Deficiency"],"prefix":"10.1159","volume":"73","author":[{"given":"Jung Min","family":"Ko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong-Kun","family":"Cheon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gu-Hwan","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Hoon","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun Suk","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han-Wook","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2010,1,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI115574"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2FS0303-7207%2802%2900368-4"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819960503%2963%3A1%3C223%3A%3AAID-AJMG39%3E3.0.CO%3B2-O"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.83.9.3236"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.186.4170.1213"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2F0022-4731%2879%2990093-1"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00109-005-0651-7"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.14.5.577"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210%2Fjcem-48-5-821"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ju.0000047621.66463.29"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.1997.800904.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI115954"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210%2Fjc.86.3.1240"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1007%2FBF01955179"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.2003.01763.x"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1056%2FNEJM199210223271706"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1172%2FJCI109176"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210%2Fjcem-47-3-653"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2265.2005.02348.x"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1745-7262.2008.00350.x"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.fertnstert.2008.01.019"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/271915","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/271915","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T20:38:54Z","timestamp":1745440734000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000271915"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2010,1,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000271915","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}