{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T10:00:15Z","timestamp":1789207215072,"version":"build-2803163510"},"reference-count":9,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2017,11,17]],"date-time":"2017-11-17T00:00:00Z","timestamp":1510876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,11,17]],"date-time":"2017-11-17T00:00:00Z","timestamp":1510876800000},"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":[[2018]]},"abstract":"<b><i>Background:<\/i><\/b> Although the importance of steroidogenic factor-1 (SF1, NR5A1) for adrenal development is supported by numerous in vitro and in vivo studies, cases of SF1 deficiency associated with adrenal failure are exceptionally rare. The first human <i>NR5A1<\/i> mutation was a heterozygous de novo p.G35E variant identified in a patient with disorder of sex development (DSD) 46,XY and primary adrenal insufficiency. Here we describe another association of the \u201cclassic\u201d SF1 phenotype with a novel <i>NR5A1<\/i> mutation affecting G35 residue. <b><i>Methods:<\/i><\/b> We describe the clinical characteristics of a phenotypically female patient presenting at 2 months with signs of adrenal insufficiency. DSD 46,XY was diagnosed at 4 years. The <i>NR5A1<\/i> gene was analyzed by Sanger sequencing. Minigene splicing and dual luciferase reporter assays were used to characterize effects of the novel mutation on splicing and transcription, respectively. <b><i>Results:<\/i><\/b> Sequencing of the <i>NR5A1<\/i> gene revealed a de novo heterozygous c.104G&#x3e;A:p.G35D substitution. The minigene experiments demonstrated that c.104G&#x3e;A substitution did not affect splicing. However, transactivation activity of the p.G35D mutant was clearly impaired, which was comparable with the effect of the p.G35E mutation. <b><i>Conclusions:<\/i><\/b> The findings stress the importance of G35 residue for adrenal development. The current observation also suggests that some patients with SF1 deficiency may present with transient adrenal failure.<\/jats:p>","DOI":"10.1159\/000481776","type":"journal-article","created":{"date-parts":[[2017,11,17]],"date-time":"2017-11-17T22:01:23Z","timestamp":1510956083000},"page":"450-454","source":"Crossref","is-referenced-by-count":11,"title":["A Novel Mutation in the Critical P-Box Residue of Steroidogenic Factor-1 Presenting with XY Sex Reversal and Transient Adrenal Failure"],"prefix":"10.1159","volume":"89","author":[{"given":"Anna\u00a0S.","family":"Orekhova","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Kalinchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan\u00a0A.","family":"Morozov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgeny\u00a0V.","family":"Vasilyev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr\u00a0M.","family":"Rubtsov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivan\u00a0I.","family":"Dedov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anatoly","family":"Tiulpakov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2017,11,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1210\/mend-5-10-1552"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90211-9"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/9629"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.4.8376"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1086\/316893"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3250"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/338271a0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(89)90051-2"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0392"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/481776","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/481776","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:04:30Z","timestamp":1745427870000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000481776"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,17]]},"references-count":9,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2018,7,31]]},"published-print":{"date-parts":[[2018,8,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000481776","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,11,17]]}}}