{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T20:24:38Z","timestamp":1774643078919,"version":"3.50.1"},"reference-count":0,"publisher":"S. Karger AG","issue":"1","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>Anti-m\u00fcllerian hormone (AMH) is produced by Sertoli cells and signals through 2 transmembrane receptors (AMHR), specific types I and II, leading to regression of m\u00fcllerian ducts during fetal male sex differentiation. Mutations in &lt;i&gt;AMH&lt;\/i&gt; and &lt;i&gt;AMHR2&lt;\/i&gt; lead to the persistence of m\u00fcllerian ducts in males which is transmitted in a recessive pattern. Here, we report 2 Egyptian DSD (disorder of sex development) patients reared as males who presented with bilateral cryptorchidism and otherwise normal male external genitalia and who both had a 46,XY karyotype. The first patient presented at the age of 2 years. Laparoscopic surgery revealed a uterus and fallopian tubes with the presence of 2 gonads, and biopsy and pathology revealed prepubertal testicular tissue showing small-sized tubules with mostly Sertoli cells and very few spermatogonia, edematous stroma, and no detectable ovarian tissue. The second patient presented at the age of 3 years. Laparoscopic surgery revealed a uterus and fallopian tubes, and serum AMH was very low (0.1 ng\/mL). Molecular studies revealed a novel missense mutation in the &lt;i&gt;AMHR2&lt;\/i&gt; gene in the first patient (c.767A&gt;C; p.H256P) and a novel frameshift mutation in the &lt;i&gt;AMH&lt;\/i&gt; gene in the second patient (c.203delC; p.L70Cfs*7). We conclude that persistent m\u00fcllerian ducts should be included in the differential diagnosis of cryptorchidism.<\/jats:p>","DOI":"10.1159\/000455019","type":"journal-article","created":{"date-parts":[[2017,2,8]],"date-time":"2017-02-08T12:59:02Z","timestamp":1486558742000},"page":"29-33","source":"Crossref","is-referenced-by-count":9,"title":["Novel &lt;b&gt;&lt;i&gt;AMH&lt;\/i&gt;&lt;\/b&gt; and &lt;b&gt;&lt;i&gt;AMHR2&lt;\/i&gt;&lt;\/b&gt; Mutations in Two Egyptian Families with Persistent M\u00fcllerian Duct Syndrome"],"prefix":"10.1159","volume":"11","author":[{"given":"Inas","family":"Mazen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"El-Gammal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"McElreavey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aya","family":"Elaidy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed S.","family":"Abdel-Hamid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,2,1]]},"container-title":["Sexual Development"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455019","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455019","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/455019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:06:37Z","timestamp":1745427997000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000455019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,2,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000455019","archive":["Portico"],"relation":{},"ISSN":["1661-5425","1661-5433"],"issn-type":[{"value":"1661-5425","type":"print"},{"value":"1661-5433","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}