{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T16:44:48Z","timestamp":1758818688128,"version":"3.40.5"},"reference-count":8,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"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":[[2016]]},"abstract":"<jats:p>Classic 3\u03b2-hydroxysteroid dehydrogenase type 2 (3\u03b2-HSD II) deficiency causes congenital adrenal hyperplasia with glucocorticoid, mineralocorticoid, and sex steroid deficiency. We present a female patient with congenital adrenal hyperplasia detected in newborn screening due to elevated 17OH-progesterone. Female external genitalia and non-measurable androgen levels elicited the suspicion of a defect early in the steroid cascade. Two loss-of-function &lt;i&gt;HSD3B2&lt;\/i&gt; mutations (1 novel) were detected and confirmed in silico. We argue that in a girl with glucocorticoid and mineralocorticoid deficiency without virilization, 3\u03b2-HSD II deficiency is an important differential diagnosis. 17OH-progesterone may initially be elevated due to placental and peripheral activity of 3\u03b2-HSD I, whereas dehydroepiandrosterone may not be increased.<\/jats:p>","DOI":"10.1159\/000448724","type":"journal-article","created":{"date-parts":[[2016,9,14]],"date-time":"2016-09-14T21:01:25Z","timestamp":1473886885000},"page":"200-204","source":"Crossref","is-referenced-by-count":6,"title":["Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel &lt;b&gt;&lt;i&gt;HSD3B2&lt;\/i&gt;&lt;\/b&gt; Mutation"],"prefix":"10.1159","volume":"10","author":[{"given":"Ursina","family":"Probst-Scheidegger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameer S.","family":"Udhane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagmar","family":"l'Allemand","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4568-5504","authenticated-orcid":false,"given":"Christa E.","family":"Fl\u00fcck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N\u00faria","family":"Camats","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,9,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2009.2"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.84.12.6288"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1998.2715"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ng0792-239"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1021\/bi00009a020"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1677\/jme.0.0120225"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/0960-0760(95)00198-0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1210\/er.2002-0050"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448724","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448724","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448724","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:05:48Z","timestamp":1745427948000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000448724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,10,13]]},"published-print":{"date-parts":[[2016,10,18]]}},"URL":"https:\/\/doi.org\/10.1159\/000448724","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"type":"print","value":"1661-5425"},{"type":"electronic","value":"1661-5433"}],"subject":[],"published":{"date-parts":[[2016]]}}}