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Our objective was to analyse the pubertal development in 46,XY patients with <jats:italic>NR5A1<\/jats:italic> mutations by the evaluation of longitudinal clinical and hormonal data at pubertal age.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We retrospectively studied a cohort of 10 46,XY patients with a verified <jats:italic>NR5A1<\/jats:italic> mutation and describe clinical features including the external and internal genitalia, testicular volumes, Tanner stages and serum concentrations of LH, FSH, testosterone, AMH, and inhibin B during pubertal transition.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Patients who first presented in early infancy due to ambiguous genitalia showed spontaneous virilization at pubertal age accompanied by a significant testosterone production despite the decreased gonadal volume. Patients with apparently female external genitalia at birth presented later in life at pubertal age either with signs of virilization and\/or absence of female puberty. Testosterone levels were highly variable in this group. In all patients, gonadotropins were constantly in the upper reference range or elevated. Neither the extent of virilization at birth nor the presence of M\u00fcllerian structures reliably correlated with the degree of virilization during puberty.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>Patients with <jats:italic>NR5A1<\/jats:italic> mutations regardless of phenotype at birth may demonstrate considerable virilization at puberty. Therefore, it is important to consider sex assignment carefully and avoid irreversible procedures during infancy.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12020-021-02883-y","type":"journal-article","created":{"date-parts":[[2021,10,8]],"date-time":"2021-10-08T02:24:38Z","timestamp":1633659878000},"page":"601-613","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Pubertal development in 46,XY patients with NR5A1 mutations"],"prefix":"10.1007","volume":"75","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5071-6419","authenticated-orcid":false,"given":"Isabel","family":"M\u00f6nig","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1436-1707","authenticated-orcid":false,"given":"Julia","family":"Schneidewind","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3303-5352","authenticated-orcid":false,"given":"Trine H.","family":"Johannsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0534-4350","authenticated-orcid":false,"given":"Anders","family":"Juul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3718-3595","authenticated-orcid":false,"given":"Ralf","family":"Werner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ralf","family":"L\u00fcnstedt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wiebke","family":"Birnbaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Marshall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lutz","family":"W\u00fcnsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7490-4983","authenticated-orcid":false,"given":"Olaf","family":"Hiort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,6]]},"reference":[{"issue":"3","key":"2883_CR1","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.jpurol.2006.03.004","volume":"2","author":"IA Hughes","year":"2006","unstructured":"I.A. 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