{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T16:39:37Z","timestamp":1786639177864,"version":"build-2736575974"},"reference-count":19,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T00:00:00Z","timestamp":1782950400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: The factors that determine the tempo of pubertal progression are not fully understood. Although a few patients with KMT2A variants were noted to have precocious puberty, in addition to various clinical features of Wiedemann-Steiner syndrome (WSS), the hormonal data of these individuals were unreported. Recently, high blood levels of 11-ketotestosterone, a potent 11-oxygenated androgen, were observed in a girl with WSS. Case Presentation: We encountered a Japanese girl who experienced menarche at 9 years and 4 months of age. She showed pubertal levels of LH and estradiol and advanced bone age and was treated with a gonadotropin-releasing hormone analog. She exhibited hirsutism, craniofacial features, and mild intellectual disability but no other clinical features of WSS. Exome sequencing identified a hitherto unreported de novo variant at the splice acceptor site of KMT2A exon 5 (c.3335-1G&gt;A). Her blood levels of 11-oxygenated androgens, androstenedione, and dehydroepiandrosterone were markedly elevated, while those of estrogen and testosterone were within normal ranges. Conclusion: The present case implies possible roles of KMT2A in the hypothalamic-pituitary-gonadal axis or in adrenal steroidogenesis. The results of this study, together with previous findings, imply that overproduction of 11-oxygenated androgens contributes to advanced bone age and hypertrichosis in patients with WSS. Our data merit further validation.<\/jats:p>","DOI":"10.1159\/000553259","type":"journal-article","created":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T16:17:55Z","timestamp":1783009075000},"page":"1-6","source":"Crossref","is-referenced-by-count":0,"title":["Early Pubertal Progression and Increased 11-Oxygenated Androgens in a Girl with Wiedemann-Steiner Syndrome and a KMT2A Variant: A Case Report"],"prefix":"10.1159","author":[{"given":"Erina","family":"Suzuki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kentaro","family":"Sawano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoko","family":"Kuroki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumito","family":"Dateki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Nagasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2026,7,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(15)00418-0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-8587(15)00380-0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jsbmb.2025.106747"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2016-2311"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-020-0336-x"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvad047"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/s1097-2765(02)00741-4"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.06.008"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0909-0"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-025-05751-0"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2022.1004114"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-1181"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvac037"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deae057"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.2022-0021"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62124"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-025-20697-0"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1210\/jendso\/bvaa192"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.47485"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000553259","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T16:08:26Z","timestamp":1786637306000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000553259"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,2]]},"references-count":19,"URL":"https:\/\/doi.org\/10.1159\/000553259","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.32834081","asserted-by":"subject"}]},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,2]]}}}