{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:37:17Z","timestamp":1790473037858,"version":"4.1.0"},"reference-count":29,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,9,21]],"date-time":"2017-09-21T00:00:00Z","timestamp":1505952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002345","name":"Eberhard Karls Universit\u00e4t T\u00fcbingen","doi-asserted-by":"publisher","award":["1835\u20100\u20100"],"award-info":[{"award-number":["1835\u20100\u20100"]}],"id":[{"id":"10.13039\/501100002345","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002345","name":"Eberhard Karls Universit\u00e4t T\u00fcbingen","doi-asserted-by":"publisher","award":["2047\u20100\u20100"],"award-info":[{"award-number":["2047\u20100\u20100"]}],"id":[{"id":"10.13039\/501100002345","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002345","name":"Eberhard Karls Universit\u00e4t T\u00fcbingen","doi-asserted-by":"publisher","award":["2159\u20100\u20100"],"award-info":[{"award-number":["2159\u20100\u20100"]}],"id":[{"id":"10.13039\/501100002345","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Obstet Gynecol Scand"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser syndrome (<jats:styled-content style=\"fixed-case\">MRKHS<\/jats:styled-content>) is characterized by congenital absence of the uterus and the upper two\u2010thirds of the vagina in otherwise phenotypically normal females. It is found isolated or associated with renal, skeletal and other malformations. Despite ongoing research, the etiology is mainly unknown. For a long time, the hypothesis of deficient hormone receptors as the cause for <jats:styled-content style=\"fixed-case\">MRKHS<\/jats:styled-content> has existed, supported by previous findings of our group. The aim of the present study was to identify unknown genetic causes for <jats:styled-content style=\"fixed-case\">MRKHS<\/jats:styled-content> and to compare them with data banks including a review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> sequence analysis of the oxytocin receptor (<jats:italic><jats:styled-content style=\"fixed-case\">OXTR<\/jats:styled-content>)<\/jats:italic> and estrogen receptor\u20101 gene (<jats:italic><jats:styled-content style=\"fixed-case\">ESR<\/jats:styled-content>1)<\/jats:italic> was performed in a group of 93 clinically well\u2010defined patients with uterovaginal aplasia (68 with the isolated form and 25 with associated malformations).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, we detected three <jats:italic><jats:styled-content style=\"fixed-case\">OXTR<\/jats:styled-content><\/jats:italic> variants in 18 <jats:styled-content style=\"fixed-case\">MRKHS<\/jats:styled-content> patients with one leading to a missense mutation, and six <jats:italic><jats:styled-content style=\"fixed-case\">ESR<\/jats:styled-content>1<\/jats:italic> variants in 21 <jats:styled-content style=\"fixed-case\">MRKHS<\/jats:styled-content> patients, two of these causing amino acid changes and therefore potentially disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The identified variants on <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> level might impair receptor function through different molecular mechanisms. Mutations of <jats:italic><jats:styled-content style=\"fixed-case\">ESR<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">OXTR<\/jats:styled-content><\/jats:italic> are associated with <jats:styled-content style=\"fixed-case\">MRKHS<\/jats:styled-content>. Thus, we consider these genes potential candidates associated with the manifestation of <jats:styled-content style=\"fixed-case\">MRKHS<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aogs.13202","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T07:56:55Z","timestamp":1502956615000},"page":"1338-1346","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Sequence variants in <i><scp>ESR<\/scp>1<\/i> and <i><scp>OXTR<\/scp><\/i> are associated with Mayer\u2010Rokitansky\u2010K\u00fcster\u2010Hauser syndrome"],"prefix":"10.1111","volume":"96","author":[{"given":"Sara Yvonne","family":"Brucker","sequence":"first","affiliation":[{"name":"Department of Women's Health Center for Rare Female Genital Malformations Women's University Hospital T\u00fcbingen University Hospital T\u00fcbingen Germany"},{"name":"Department of Women's Health, Research Center for Women's Health University T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliane","family":"Frank","sequence":"additional","affiliation":[{"name":"Department of Women's Health, Research Center for Women's Health University T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Eisenbeis","sequence":"additional","affiliation":[{"name":"Department of Women's Health, Research Center for Women's Health University T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Henes","sequence":"additional","affiliation":[{"name":"Department of Women's Health Center for Rare Female Genital Malformations Women's University Hospital T\u00fcbingen University Hospital T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diethelm","family":"Wallwiener","sequence":"additional","affiliation":[{"name":"Department of Women's Health Center for Rare Female Genital Malformations Women's University Hospital T\u00fcbingen University Hospital T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics T\u00fcbingen University Hospital T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"van Eijck","sequence":"additional","affiliation":[{"name":"Department of Women's Health, Research Center for Women's Health University T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorit","family":"Sch\u00f6ller","sequence":"additional","affiliation":[{"name":"Department of Women's Health Center for Rare Female Genital Malformations Women's University Hospital T\u00fcbingen University Hospital T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bonin","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics T\u00fcbingen University Hospital T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4546-9438","authenticated-orcid":false,"given":"Kristin Katharina","family":"Rall","sequence":"additional","affiliation":[{"name":"Department of Women's Health Center for Rare Female Genital Malformations Women's University Hospital T\u00fcbingen University Hospital T\u00fcbingen 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