{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T17:45:21Z","timestamp":1791049521511,"version":"4.1.0"},"reference-count":11,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"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":[[2011]]},"abstract":"<jats:p>The anti-m\u00fcllerian hormone (AMH) is responsible for regression of m\u00fcllerian ducts during male sexual differentiation. Mutations in the &lt;i&gt;AMH&lt;\/i&gt; gene or its type II receptor gene &lt;i&gt;AMHR2 &lt;\/i&gt;lead to persistence of the uterus and fallopian tubes in male children, i.e. persistent m\u00fcllerian duct syndrome (PMDS). Both conditions are transmitted according to an autosomal recessive pattern and are symptomatic only in males. We report on 2 unrelated Egyptian consanguineous families with PMDS. The first family comprised 3 affected prepubertal sibs complaining of undescended testes. Pelvic exploration and laparotomy revealed m\u00fcllerian duct derivatives. The other family was presenting with an adolescent male with impalpable left testis, and pelvic exploration showed remnants of fallopian tubes and rudimentary uterus. AMH levels were very low and almost undetectable in all affected patients in both families. Direct sequencing of the coding region of the &lt;i&gt;AMH&lt;\/i&gt; gene identified 2 homozygous mutations in exon 1, R95X in the first family and V12G in the second family. These data confirmed the autosomal recessive type of PMDS. Molecular investigation of this rare disorder in a larger number of cases with undescended testes in Egypt is warranted for proper diagnosis and genetic counseling.<\/jats:p>","DOI":"10.1159\/000334854","type":"journal-article","created":{"date-parts":[[2011,12,20]],"date-time":"2011-12-20T09:09:50Z","timestamp":1324372190000},"page":"277-280","source":"Crossref","is-referenced-by-count":10,"title":["&lt;i&gt;AMH&lt;\/i&gt; Gene Mutations in Two Egyptian Families with Persistent M\u00fcllerian Duct Syndrome"],"prefix":"10.1159","volume":"5","author":[{"given":"I.","family":"Mazen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.S.","family":"Abdel Hamid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"El-Gammal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Aref","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Amr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2011,12,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819991229%2989%3A4%3C218%3A%3AAID-AJMG6%3E3.0.CO%3B2-E"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2886%2990783-X"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1159%2F000132332"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1210%2Fer.18.2.259"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F3.1.125"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1365-2265.1997.2411044.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093%2Fhumupd%2Fdmi014"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.88.9.3767"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159%2F000137664"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1590%2FS0004-27302005000100005"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210%2Fen.140.10.4732"}],"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334854","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/334854","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:51:44Z","timestamp":1745434304000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000334854"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":11,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2012,2,1]]},"published-print":{"date-parts":[[2012,2,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000334854","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011]]}}}