{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:43:51Z","timestamp":1761709431836,"version":"3.40.5"},"reference-count":0,"publisher":"S. Karger AG","issue":"5-6","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"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":[[2017]]},"abstract":"<jats:p>Persistent m\u00fcllerian duct syndrome (PMDS) is characterized by the presence of m\u00fcllerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the &lt;i&gt;AMH&lt;\/i&gt; gene or its type II receptor (&lt;i&gt;AMHR2&lt;\/i&gt;). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the &lt;i&gt;AMHR2&lt;\/i&gt; gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G&gt;T). PMDS is a rare condition, but it has to be considered in differential diagnosis of cryptorchidism with normal male genitalia.<\/jats:p>","DOI":"10.1159\/000485882","type":"journal-article","created":{"date-parts":[[2018,1,12]],"date-time":"2018-01-12T22:01:29Z","timestamp":1515794489000},"page":"289-292","source":"Crossref","is-referenced-by-count":5,"title":["A Novel Mutation of &lt;b&gt;&lt;i&gt;AMHR2&lt;\/i&gt;&lt;\/b&gt; In Two Siblings with Persistent M\u00fcllerian Duct Syndrome"],"prefix":"10.1159","volume":"11","author":[{"given":"Aydilek D.","family":"\u00c7ak\u0131r","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hande","family":"Turan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0584-8866","authenticated-orcid":false,"given":"H\u00fcseyin","family":"Onay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haluk","family":"Emir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Senol","family":"Emre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nil","family":"Comunoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oya","family":"Ercan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olcay","family":"Evliyaoglu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,1,13]]},"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/485882","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/485882","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:28:32Z","timestamp":1745425712000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000485882"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":0,"journal-issue":{"issue":"5-6","published-online":{"date-parts":[[2018,2,6]]},"published-print":{"date-parts":[[2018,2,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000485882","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"type":"print","value":"1661-5425"},{"type":"electronic","value":"1661-5433"}],"subject":[],"published":{"date-parts":[[2017]]}}}