{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T20:32:23Z","timestamp":1790195543579,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,11,23]],"date-time":"2014-11-23T00:00:00Z","timestamp":1416700800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Channel 7 Telethon","award":["#63002012"],"award-info":[{"award-number":["#63002012"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Paediatrics Child Health"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Silver\u2013Russell syndrome (<jats:styled-content style=\"fixed-case\">SRS<\/jats:styled-content>) and <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>ayer\u2010<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>okitansky\u2010<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>\u00fcster\u2010<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>auser (<jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>) syndrome are described in isolation. However, their co\u2010occurrence has only been rarely reported. Here, we present a case report of an adolescent with <jats:styled-content style=\"fixed-case\">SRS<\/jats:styled-content> who was diagnosed with <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content> during the evaluation of primary amenorrhoea. Multiplex ligation\u2010dependent probe amplification analysis showed a normal methylation pattern and normal dosage at 11p15.5. A <jats:styled-content style=\"fixed-case\">P<\/jats:styled-content>ub<jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>ed search for all peer\u2010reviewed publications (original articles and reviews) using the key words <jats:styled-content style=\"fixed-case\">S<\/jats:styled-content>ilver\u2013<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>ussell syndrome, <jats:styled-content style=\"fixed-case\">M<\/jats:styled-content>ayer\u2010<jats:styled-content style=\"fixed-case\">R<\/jats:styled-content>okitansky\u2010<jats:styled-content style=\"fixed-case\">K<\/jats:styled-content>\u00fcster\u2010<jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>auser syndrome, genetics, hypomethylation and reproductive anomalies identified three cases of <jats:styled-content style=\"fixed-case\">SRS<\/jats:styled-content> with <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>, two of which were associated with significant hypomethylation of the <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>19 imprinting control region of the 11p15.5 locus. This report highlights the association between <jats:styled-content style=\"fixed-case\">SRS<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">MRKH<\/jats:styled-content>. The absence of hypomethylation and normal dosage at 11p15.5 suggests these two rare entities share alternative aetiopathogenic mechanisms.<\/jats:p>","DOI":"10.1111\/jpc.12778","type":"journal-article","created":{"date-parts":[[2014,11,24]],"date-time":"2014-11-24T04:47:29Z","timestamp":1416804449000},"page":"555-560","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Report and review of described associations of <scp>M<\/scp>ayer\u2010<scp>R<\/scp>okitansky\u2010<scp>K<\/scp>\u00fcster\u2010<scp>H<\/scp>auser syndrome and <scp>S<\/scp>ilver\u2013<scp>R<\/scp>ussell syndrome"],"prefix":"10.1111","volume":"51","author":[{"given":"Mary B","family":"Abraham","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetes Princess Margaret Hospital for Children  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen","family":"Carpenter","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics PathWest QEII Medical Centre  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gareth S","family":"Baynam","sequence":"additional","affiliation":[{"name":"School of Paediatrics and Child Health The University of Western Australia  Perth Western Australia Australia"},{"name":"Institute for Immunology and Infectious Diseases Murdoch University  Perth Western Australia Australia"},{"name":"Genetic Services of Western Australia King Edward Memorial Hospital  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah JG","family":"Mackay","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Southampton  Southampton United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glynis","family":"Price","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Princess Margaret Hospital for Children  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine S","family":"Choong","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes Princess Margaret Hospital for Children  Perth Western Australia Australia"},{"name":"School of Paediatrics and Child Health The University of Western Australia  Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,23]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"837","article-title":"The spectrum of Silver\u2010Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria","volume":"36","author":"Price SM","year":"1999","journal-title":"J. Med. Genet."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-19"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.106"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028936"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-13"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477-5751-5-1"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.12.051"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.187"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.2006-0039"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004040100172"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/502981"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-1805"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.079111"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201974"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-3228"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-13-42"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.236"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197508000-00001"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.63.2.130"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-2017"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.66.10.1180"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02282833"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000289570"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000295924"},{"key":"e_1_2_6_26_1","unstructured":"Department of Health:Guidelines for the Pharmaceutical Benefits Scheme Growth Hormone Programme. Available from:http:\/\/www.health.gov.au\/hgh[accessed on 11 November 2014]."},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011-2741"}],"container-title":["Journal of Paediatrics and Child Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjpc.12778","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fjpc.12778","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/jpc.12778","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T11:45:36Z","timestamp":1695555936000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/jpc.12778"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,23]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["10.1111\/jpc.12778"],"URL":"https:\/\/doi.org\/10.1111\/jpc.12778","archive":["Portico"],"relation":{},"ISSN":["1034-4810","1440-1754"],"issn-type":[{"value":"1034-4810","type":"print"},{"value":"1440-1754","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,23]]},"assertion":[{"value":"2014-10-18","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2014-11-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}