{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T09:02:58Z","timestamp":1792141378575,"version":"4.4.0"},"reference-count":43,"publisher":"CSIRO Publishing","issue":"7","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":2322,"URL":"https:\/\/doi.org\/10.1071\/journalslicense"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,6,21]]},"abstract":"<jats:p>Male sex differentiation is driven by two hormones, testosterone and anti-M\u00fcllerian hormone (AMH), responsible for regression of M\u00fcllerian ducts in male fetuses. Mutations inactivating AMH or AMH receptor type 2 (AMHR2) are responsible for persistent M\u00fcllerian duct syndrome (PMDS) in otherwise normally virilised 46,XY males. This review is based on published cases, including 157 personal ones. PMDS can present in one of three ways: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with PMDS. Cancer of M\u00fcllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Up to January 2019, 81 families with 65 different mutations of the AMH gene, mostly in exons 1, 2 and 5, have been identified. AMHR2 gene mutations comprising 64 different alleles have been discovered in 79 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation of AMH or AMHR2 has been detected, suggesting a disruption of other pathways involved in M\u00fcllerian regression.<\/jats:p>","DOI":"10.1071\/rd17501","type":"journal-article","created":{"date-parts":[[2019,1,16]],"date-time":"2019-01-16T17:32:57Z","timestamp":1547659977000},"page":"1240-1245","source":"Crossref","is-referenced-by-count":44,"title":["Persistent M\u00fcllerian duct syndrome: an update"],"prefix":"10.1071","volume":"31","author":[{"given":"Jean-Yves","family":"Picard","sequence":"first","affiliation":[{"name":"AINSERM UMRS 938, Centre de Recherche Saint Antoine, 27, rue Chaligny, 75571 Paris Cedex 12, France."},{"name":"BFacult\u00e9 de M\u00e9decine Sorbonne Universit\u00e9, 27, rue Chaligny, 75571 Paris Cedex 12, France."},{"name":"CCorresponding author. Email: jean-yves.picard@u-psud.fr"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Josso","sequence":"additional","affiliation":[{"name":"AINSERM UMRS 938, Centre de Recherche Saint Antoine, 27, rue Chaligny, 75571 Paris Cedex 12, France."},{"name":"BFacult\u00e9 de M\u00e9decine Sorbonne Universit\u00e9, 27, rue Chaligny, 75571 Paris Cedex 12, France."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"67","published-online":{"date-parts":[[2019,1,17]]},"reference":[{"key":"2025102819475209400_R1","doi-asserted-by":"crossref","first-page":"205","DOI":"10.14310\/horm.2002.1735","article-title":"Persistent Mullerian duct syndrome: A novel mutation in the anti-Mullerian hormone gene.","volume":"16","author":"Altincik","year":"2017","journal-title":"Hormones (Athens)"},{"key":"2025102819475209400_R2","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1210\/ME.2003-0358","article-title":"Mutations of the anti-M\u00fcllerian hormone gene in patients with persistent M\u00fcllerian duct syndrome: biosynthesis, secretion and processing of the abnormal proteins and analysis using a three-dimensional model.","volume":"18","author":"Belville","year":"2004","journal-title":"Mol. 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