{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T12:42:36Z","timestamp":1777898556660,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,12,9]],"date-time":"2008-12-09T00:00:00Z","timestamp":1228780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,12,9]],"date-time":"2008-12-09T00:00:00Z","timestamp":1228780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res"],"abstract":"<jats:p>Nonclassic or the mild form of 3\u03b2-hydroxysteroid dehydrogenase (NC3\u03b2-HSD) deficiency is an entity which is identified with typical features of premature pubarche, hirsutism, or oligomenorrhea. In this study, type II 3\u03b2-HSD gene from 4 girls who were diagnosed as NC3\u03b2-HSD deficient, based on the adrenal steroidogenic responses to ACTH, was analyzed to determine whether NC3\u03b2-HSD deficiency was an allelic variant of classical 3\u03b2-HSD deficiency by polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP). We could not detect any alterations of type II 3\u03b2-HSD gene from these patients. Our result strongly suggests that unlike classical 3\u03b2-HSD deficiency, NC3\u03b2-HSD deficiency may be secondary adrenal biosynthetic defects, rather than dual inherited deficiencies.<\/jats:p>","DOI":"10.1159\/000185430","type":"journal-article","created":{"date-parts":[[2008,12,11]],"date-time":"2008-12-11T09:35:10Z","timestamp":1228988110000},"page":"49-53","source":"Crossref","is-referenced-by-count":9,"title":["No Genetic Mutation in Type II 3\u03b2-Hydroxysteroid Dehydrogenase Gene in Patients with Biochemical Evidence of Enzyme Deficiency"],"prefix":"10.1159","author":[{"given":"Toshihiro","family":"Tajima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshikazu","family":"Nishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aiko","family":"Takase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Nakae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Murashita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Fujieda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,12,9]]},"container-title":["Hormone Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000185430","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T09:34:13Z","timestamp":1777628053000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000185430"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,9]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000185430","archive":["Portico"],"relation":{},"ISSN":["0301-0163","1423-0046"],"issn-type":[{"value":"0301-0163","type":"print"},{"value":"1423-0046","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,9]]}}}