{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T14:16:43Z","timestamp":1784557003742,"version":"3.55.0"},"reference-count":46,"publisher":"Bioscientifica","issue":"12","license":[{"start":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T00:00:00Z","timestamp":1696896000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["ec.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,10,10]]},"abstract":"<jats:p>\n                    Although hyperandrogenism is a frequent cause of consultation in adolescent girls, more severe forms with virilization must lead to suspicion of an adrenal or ovarian tumor. However, they may also reveal a 46,XY disorder of sexual development (DSD). Here, we describe four adolescent girls referred for pubertal virilization and in whom we diagnosed a 46,XY DSD. We performed gene mutation screening by Sanger sequencing (all patients) and by next-generation sequencing (NGS) in patient #4. We identified new heterozygous\n                    <jats:italic>NR5A1<\/jats:italic>\n                    gene variants in patients #1 and #2 and a homozygous\n                    <jats:italic>SRD5A2<\/jats:italic>\n                    gene deletion in patient #3. Patient #4 received a diagnosis of complete androgen insensitivity in childhood; however, due the unusual pubertal virilization, we completed the gene analysis by NGS that revealed two heterozygous\n                    <jats:italic>HSD17B3<\/jats:italic>\n                    variants. This work underlines the importance of considering the hypothesis of 46,XY DSD in adolescent girls with unexplained virilization at puberty.\n                  <\/jats:p>","DOI":"10.1530\/ec-23-0267","type":"journal-article","created":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T06:19:55Z","timestamp":1696918795000},"update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-10","source":"Crossref","is-referenced-by-count":4,"title":["Virilization at puberty in adolescent girls may reveal a 46,XY disorder of sexual development"],"prefix":"10.1530","volume":"12","author":[{"given":"A","family":"Bergougnoux","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et de Cytog\u00e9n\u00e9tique, Centre Hospitalier Universitaire de Montpellier, Universit\u00e9 de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Gaspari","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'Endocrinologie et de Gyn\u00e9cologie P\u00e9diatrique, H\u00f4pital Arnaud de Villeneuve, Universit\u00e9 de Montpellier, Montpellier, France"},{"name":"INSERM Unit\u00e9 1203 (DEFE), Universit\u00e9 de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Soleirol","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Pediatrie, CHU N\u00eemes, France, Universit\u00e9 de Montpellier Facult\u00e9 de M\u00e9decine Montpellier-N\u00eemes, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Servant","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et de Cytog\u00e9n\u00e9tique, Centre Hospitalier Universitaire de Montpellier, Universit\u00e9 de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Soskin","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Rossignol","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, Centre Hospitalier Universitaire Hautepierre de Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Wagner-Mahler","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie, CHU Nice, H\u00f4pitaux P\u00e9diatriques de Nice CHU-Lenval, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Bertherat","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, French Reference Center for Rare Adrenal Disorders, H\u00f4pital Cochin, Universit\u00e9 Paris Cit\u00e9, Institut Cochin, Assitance Publique-H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Sultan","sequence":"additional","affiliation":[{"name":"D\u00e9partement d'Endocrinologie et de Gyn\u00e9cologie P\u00e9diatrique, H\u00f4pital Arnaud de Villeneuve, Universit\u00e9 de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Kalfa","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urological Surgery, French Reference Center for abnormalities of Genital Development (DevGen), CHU Lapeyronie, Montpellier University, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8184-4189","authenticated-orcid":true,"given":"F","family":"Paris","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire et de Cytog\u00e9n\u00e9tique, Centre Hospitalier Universitaire de Montpellier, Universit\u00e9 de Montpellier, Montpellier, France"},{"name":"D\u00e9partement d'Endocrinologie et de Gyn\u00e9cologie P\u00e9diatrique, H\u00f4pital Arnaud de Villeneuve, Universit\u00e9 de Montpellier, Montpellier, France"},{"name":"INSERM Unit\u00e9 1203 (DEFE), Universit\u00e9 de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","reference":[{"key":"bib1","series-title":"Sperlin Pediatric Endocrinology","first-page":"528","article-title":"Puberty in the female and its disorders","author":"Rosenfield","year":"2014","unstructured":"Rosenfield RLCooke D &  SR. 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