{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:02:55Z","timestamp":1791216175103,"version":"4.1.0"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":["eur j endocrinol"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:p>\n                    <jats:italic>Objective<\/jats:italic>\n                    : Steroidogenic factor 1 (SF1), officially designated NR5A1, is a nuclear receptor that plays key roles in endocrine development and function. Previous reports of human SF1 mutations revealed a spectrum of phenotypes affecting adrenal function and\/or gonadal development and sex differentiation. We present the clinical phenotype and functional effects of a novel SF1 mutation.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Patient<\/jats:italic>\n                    : The patient is a 22-year-old 46, XY Japanese patient who presented with dysgenetic testes, atrophic vasa deferentia and epididymides, lack of Mu\u0308llerian structures, and clitoromegaly. Endocrine studies revealed normal adrenal function.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Results<\/jats:italic>\n                    : Analysis of the\n                    <jats:italic>SF1<\/jats:italic>\n                    gene revealed compound heterozygosity for a previously described p.G146A polymorphism and a novel missense mutation (p.R84C) in the accessory DNA-binding domain. The father carried the p.G146A polymorphism and the mother had the p.R84C mutation; both were clinically and reproductively normal. Functional studies demonstrated that the p.R84C SF1 had normal nuclear localization but decreased DNA-binding affinity and transcriptional activity compared with wild-type SF1; it did not exhibit any dominant negative activity.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:italic>Conclusions<\/jats:italic>\n                    : These results describe the human phenotype that results from compound heterozygosity of the p.G146A polymorphism and a novel p.R84C mutation of SF1, thereby extending the spectrum of human SF1 mutations that impair testis development and sex differentiation in a sex-limited manner while preserving normal adrenal function.\n                  <\/jats:p>","DOI":"10.1530\/eje-07-0113","type":"journal-article","created":{"date-parts":[[2007,7,26]],"date-time":"2007-07-26T13:18:20Z","timestamp":1185455900000},"page":"233-238","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":42,"title":["A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency"],"prefix":"10.1093","volume":"157","author":[{"given":"Anne L","family":"Reuter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsumi","family":"Goji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan C","family":"Bingham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keith L","family":"Parker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","reference":[{"issue":"10","key":"1_10189948","doi-asserted-by":"crossref","first-page":"7494","DOI":"10.1016\/S0021-9258(18)53202-6","volume":"268","author":"Honda","year":"1993","journal-title":"Journal of Biological Chemistry","ISSN":"https:\/\/id.crossref.org\/issn\/0021-9258","issn-type":"print"},{"issue":"8","key":"2_9999055","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1210\/me.6.8.1249","volume":"6","author":"Lala","year":"1992","journal-title":"Molecular Endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0888-8809","issn-type":"print"},{"issue":"3","key":"3_16809365","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1210\/er.18.3.361","volume":"18","author":"Parker","year":"1997","journal-title":"Endocrine Reviews","ISSN":"https:\/\/id.crossref.org\/issn\/0163-769X","issn-type":"print"},{"issue":"4","key":"4_15493651","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/0092-8674(94)90211-9","volume":"77","author":"Luo","year":"1994","journal-title":"Cell","ISSN":"https:\/\/id.crossref.org\/issn\/0092-8674","issn-type":"print"},{"issue":"12","key":"5_10052912","doi-asserted-by":"crossref","first-page":"5667","DOI":"10.1128\/MCB.12.12.5667","volume":"12","author":"Ueda","year":"1992","journal-title":"Molecular and Cellular Biology","ISSN":"https:\/\/id.crossref.org\/issn\/0270-7306","issn-type":"print"},{"issue":"5","key":"6_10820692","doi-asserted-by":"publisher","first-page":"471","DOI":"10.1038\/8276","volume":"6","author":"Meinke","year":"1999","journal-title":"Nature structural biology","ISSN":"https:\/\/id.crossref.org\/issn\/1072-8368","issn-type":"print"},{"issue":"4","key":"7_21140871","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1210\/me.2005-0384","volume":"20","year":"2006","journal-title":"Molecular Endocrinology","ISSN":"https:\/\/id.crossref.org\/issn\/0888-8809","issn-type":"print"},{"issue":"2","key":"8_10852635","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1038\/9629","volume":"22","author":"Achermann","year":"1999","journal-title":"Nature genetics","ISSN":"https:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"issue":"4","key":"9_16991497","doi-asserted-by":"publisher","first-page":"1829","DOI":"10.1210\/jc.87.4.1829","volume":"87","author":"Achermann","year":"2002","journal-title":"Journal of Clinical Endocrinology &amp; 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