{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T17:59:15Z","timestamp":1772560755842,"version":"3.50.1"},"reference-count":20,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"abstract":"<jats:p>Introduction: MED12 is a causative gene for congenital malformation syndromes. The association between MED12 variants and 46,XY disorders\/differences of sex development (DSD) remains unclear, although several variant-positive patients exhibited genital abnormalities. Case Presentation: Three siblings manifested hypomasculinized genitalia, including hypospadias and cryptorchidism, with normal or mildly increased gonadotropin levels. Two patients showed normal spontaneous puberty. Whole exome sequencing identified a maternally derived hemizygous MED12 variant (c.3064A&gt;G, p.Met1022Val). One patient lacked typical clinical features of MED12-associated malformation syndromes. Conclusion: MED12 variants may cause 46,XY DSD with or without congenital malformation syndromes through testicular dysfunction and defective genital formation during fetal development.<\/jats:p>","DOI":"10.1159\/000550257","type":"journal-article","created":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T17:00:52Z","timestamp":1769101252000},"page":"1-6","source":"Crossref","is-referenced-by-count":0,"title":["A Hemizygous MED12 Variant in Three Brothers with Hypomasculinized Genitalia and Additional Clinical Features: A Case Report"],"prefix":"10.1159","author":[{"given":"Nobuhiko","family":"Koga","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuko","family":"Katoh-Fukui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michihiko","family":"Aramaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reiko","family":"Horikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenichi","family":"Kashimada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0738"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/s41574-018-0010-8"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-2918"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.lfs.2017.11.039"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2024.1387598"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.molcel.2008.05.023"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1126\/science.1260419"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.30099"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1602386"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/ng1992"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.048637"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63004"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deae057"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36162"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12857"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkf443"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1121120109"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.21.4241"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10204"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000550257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T17:04:39Z","timestamp":1772557479000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000550257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,22]]},"references-count":20,"URL":"https:\/\/doi.org\/10.1159\/000550257","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.31108969","asserted-by":"subject"}]},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"value":"1663-2818","type":"print"},{"value":"1663-2826","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,22]]}}}