{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T05:46:35Z","timestamp":1789451195553,"version":"build-2803163510"},"reference-count":32,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Sex Dev"],"published-print":{"date-parts":[[2015]]},"abstract":"<i>MAMLD1<\/i> is suggested to play a role in the development of 46,XY disorders of sexual development (46,XY DSD). So far, mutations in this gene have been detected in several cases of hypospadias with normal testosterone levels at birth. From in vitro studies it was concluded that <i>Mamld1<\/i> might transiently affect testosterone synthesis during genital development. We describe the first <i>MAMLD1<\/i> mutation in a 46,XY patient with complete gonadal dysgenesis. The novel <i>MAMLD1<\/i> missense mutation (p.P677L) results in a severely reduced transactivation in vitro of the promoter of the <i>MAMLD1<\/i> target gene <i>HES3\/Hes3<\/i>. However, as knowledge about the functional role of <i>MAMLD1<\/i> in gonadal development is limited, we suggest that additional factors (digenic or oligogenic cause) play a role in the development of complete gonadal dysgenesis in this patient.<\/jats:p>","DOI":"10.1159\/000371603","type":"journal-article","created":{"date-parts":[[2015,2,3]],"date-time":"2015-02-03T07:25:15Z","timestamp":1422948315000},"page":"80-85","source":"Crossref","is-referenced-by-count":19,"title":["A Novel Hemizygous Mutation of <b><i>MAMLD1<\/i><\/b> in a Patient with 46,XY Complete Gonadal 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