{"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":1791216175292,"version":"4.1.0"},"reference-count":34,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2010,9,22]],"date-time":"2010-09-22T00:00:00Z","timestamp":1285113600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,9,22]],"date-time":"2010-09-22T00:00:00Z","timestamp":1285113600000},"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":[[2011]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Three novel heterozygous SF-1 gene mutations affecting multiple members of two unrelated families with a history of 46,XY disorders of sex development (DSD) and 46,XX ovarian insufficiency are described. &lt;i&gt;Methods:&lt;\/i&gt; Clinical and mutational analysis of the SF-1 gene in 9 subjects of two families. &lt;i&gt;Results:&lt;\/i&gt; Family 1 had 2 affected 46,XY DSD subjects. One, born with severe perineal hypospadias, was raised as a male, and presented normal adolescence. The other, born with ambiguous genitalia, uterus, and mild testicular dysgenesis, was raised as a female. A W279X heterozygous mutation and an intronic deletion (g3314-3317delTCTC (IVS 4 + 8) was found in the SF-1 gene. In family 2, 4\/6 affected siblings had 46,XY DSD or hypospadias. An affected 46,XX sister had normal sexual development but increased FSH levels. The 37-year-old affected mother had entered menopause. An Y183X heterozygous mutation was detected. &lt;i&gt;Conclusion:&lt;\/i&gt; An extreme within-family phenotypic variability, ranging from severe prenatal undervirilization to normal pubertal development, was observed in 46,XY-affected siblings, indicating that other unknown factors might be involved in the phenotype. Low ovarian reserve and preserved fertility in 46,XX subjects can be observed in heterozygous SF-1 gene mutations.<\/jats:p>","DOI":"10.1159\/000320029","type":"journal-article","created":{"date-parts":[[2010,11,1]],"date-time":"2010-11-01T09:09:14Z","timestamp":1288602554000},"page":"70-77","source":"Crossref","is-referenced-by-count":54,"title":["Three New SF-1 &lt;i&gt;(NR5A1) &lt;\/i&gt;Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects"],"prefix":"10.1159","volume":"75","author":[{"given":"Diana 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