{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T13:17:29Z","timestamp":1789996649179,"version":"4.0.1"},"reference-count":39,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,26]],"date-time":"2014-08-26T00:00:00Z","timestamp":1409011200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Auriga ONLUS Project"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>Steroidogenic factor 1 (encoded by the <jats:italic>NR5A1<\/jats:italic> gene) is a critical regulator of reproduction, controlling transcription of key genes involved in sexual dimorphism. To date, <jats:italic>NR5A1<\/jats:italic> variants have been found in individuals with a 46,XY karyotype and gonadal dysgenesis, as well as with a wide spectrum of genital anomalies and, in some patients, with adrenal insufficiency. We describe evolution of gonadal function, from the neonatal period to puberty, in a patient with a 46,XY karyotype, a disorder of sexual development, and a mutation (c.691_699dupCTGCAGCTG) in the <jats:italic>NR5A1<\/jats:italic> gene. The patient, ascertained at birth due to ambiguous genitalia, showed normal values of plasma testosterone in the late neonatal period. Evaluation of the hormonal profile over time indicated severe tubular testicular hypofunction suggestive for a 46,XY disorder of gonadal development. A comprehensive review of published reports of 46,XY and disordered sexual development related to the <jats:italic>NR5A1<\/jats:italic> gene confirmed the clinical and hormonal variability in patients with <jats:italic>NR5A1<\/jats:italic> mutations. Analysis of multiple data allowed us to define the most common features associated with <jats:italic>NR5A1<\/jats:italic> mutations. We further confirmed the indication to perform <jats:italic>NR5A1<\/jats:italic> screening in patients with 46,XY karyotype and disordered sexual development even when M\u00fcllerian structures appear to be absent and plasma testosterone levels are within the normal range for age. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36729","type":"journal-article","created":{"date-parts":[[2014,8,26]],"date-time":"2014-08-26T21:14:50Z","timestamp":1409087690000},"page":"2938-2946","source":"Crossref","is-referenced-by-count":25,"title":["Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one <i>NR5A1<\/i> mutation"],"prefix":"10.1002","volume":"164","author":[{"given":"Lucia","family":"Pedace","sequence":"first","affiliation":[{"name":"Medical Genetics, Department of Molecular Medicine Sapienza University, S. 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