{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T15:01:21Z","timestamp":1788188481496,"version":"build-2803163510"},"reference-count":21,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2020,3,18]],"date-time":"2020-03-18T00:00:00Z","timestamp":1584489600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"Direction G\u00e9n\u00e9rale de l\u2019Organisation des Soins"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>The persistent M\u00fcllerian duct syndrome (PMDS) is defined by the persistence of M\u00fcllerian derivatives in an otherwise normally virilized 46,XY male. It is usually caused by mutations in either the anti-M\u00fcllerian hormone (AMH) or AMH receptor type 2 (AMHR2) genes. We report the first cases of PMDS resulting from a microdeletion of the chromosomal region 12q13.13, the locus of the gene for AMHR2. One case involved a homozygous microdeletion of five exons of the AMHR2 gene. In the second case, the whole AMHR2 gene was deleted from the maternally inherited chromosome. The patient\u2019s paternal allele carried a stop mutation, which was initially thought to be homozygous by Sanger sequencing. Diagnostic methods are discussed, with an emphasis on comparative genomic hybridization and targeted massive parallel sequencing.<\/jats:p>","DOI":"10.1093\/humrep\/deaa014","type":"journal-article","created":{"date-parts":[[2020,1,23]],"date-time":"2020-01-23T20:10:25Z","timestamp":1579810225000},"page":"999-1003","source":"Crossref","is-referenced-by-count":8,"title":["Persistent M\u00fcllerian duct syndrome due to anti-M\u00fcllerian hormone receptor 2 microdeletions: a diagnostic challenge"],"prefix":"10.1093","volume":"35","author":[{"given":"L","family":"Tosca","sequence":"first","affiliation":[{"name":"Service d\u2019Histologie, Embryologie et Cytog\u00e9n\u00e9tique, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, H\u00f4pital Antoine B\u00e9cl\u00e8re, 92140 Clamart, France"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J C","family":"Giltay","sequence":"first","affiliation":[{"name":"Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Bouvattier","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"},{"name":"Service Endocrinologie et Diab\u00e8te de l\u2019Enfant, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A J","family":"Klijn","sequence":"first","affiliation":[{"name":"Department Pediatric Urology Wilhelmina Kinderziekenhuis. University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Bouligand","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"},{"name":"Service de G\u00e9n\u00e9tique Mol\u00e9culaire, Pharmacog\u00e9n\u00e9tique et Hormonologie, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A S","family":"Lambert","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"},{"name":"Service Endocrinologie et Diab\u00e8te de l\u2019Enfant, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Lecerf","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Universit\u00e9 Paris-Est, Unit\u00e9 955, 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Josso","sequence":"first","affiliation":[{"name":"UMR_S938 Centre de Recherche Saint Antoine, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Tachdjian","sequence":"first","affiliation":[{"name":"Service d\u2019Histologie, Embryologie et Cytog\u00e9n\u00e9tique, Assistance Publique-H\u00f4pitaux de Paris, Universit\u00e9 Paris-Saclay, H\u00f4pital Antoine B\u00e9cl\u00e8re, 92140 Clamart, France"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris-Saclay, 94270 Le Kremlin-Bic\u00eatre, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J Y","family":"Picard","sequence":"first","affiliation":[{"name":"UMR_S938 Centre de Recherche Saint Antoine, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale, Sorbonne Universit\u00e9, 75012 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,3,18]]},"reference":[{"key":"2020043013360240100_ref1","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1038\/gim.2011.65","article-title":"Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders","volume":"14","author":"Aradhya","year":"2012","journal-title":"Genet Med"},{"key":"2020043013360240100_ref2","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/j.fertnstert.2017.07.015","article-title":"New MCM8 mutation associated with premature ovarian insufficiency 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