{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T19:53:39Z","timestamp":1789847619606,"version":"4.0.1"},"reference-count":11,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"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":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; CHARGE syndrome is a variable entity. Clinical diagnosis is based on the Blake-Verloes criteria and can be confirmed by identifying a mutation or deletion in the &lt;i&gt;CHD7&lt;\/i&gt; gene. Hypoplasia of the male genitalia and lack or incomplete secondary sexual development in both sexes is a common feature, and is most often attributable to hypogonadotropic hypogonadism which is described in &gt;80% of the CHARGE patients. Other genital anomalies in CHARGE patients are rare. &lt;b&gt;&lt;i&gt;Methods and Results:&lt;\/i&gt;&lt;\/b&gt; We describe the case of a girl with a novel heterozygous deletion in exon 15 of the &lt;i&gt;CHD7 &lt;\/i&gt;gene and combined agenesis of uterus and ovaries, besides gonadotropin deficiency, thus expanding the geno-phenotype of CHARGE syndrome. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; In case of persistent primary amenorrhea, despite estrogen replacement, this unusual combination should be considered in girls with CHARGE syndrome.<\/jats:p>","DOI":"10.1159\/000443308","type":"journal-article","created":{"date-parts":[[2016,1,7]],"date-time":"2016-01-07T22:25:48Z","timestamp":1452205548000},"page":"288-290","source":"Crossref","is-referenced-by-count":6,"title":["Expanding the CHARGE Geno-Phenotype: A Girl with Novel &lt;b&gt;&lt;i&gt;CHD7&lt;\/i&gt;&lt;\/b&gt; Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries"],"prefix":"10.1159","volume":"85","author":[{"given":"Nele","family":"Reynaert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis","family":"de Zegher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge","family":"Francois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Beckers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Casteels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,1,8]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.087106"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01884.x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr216"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(01)61984-0"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000918)94:3<228::AID-AJMG8>3.0.CO;2-H"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-2474"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejrad.2011.12.036"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1007\/BF02015441"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443308","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443308","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:36:36Z","timestamp":1745429796000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000443308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,5,28]]},"published-print":{"date-parts":[[2016,5,13]]}},"URL":"https:\/\/doi.org\/10.1159\/000443308","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}