{"created":"2023-05-26T01:05:24.472846+00:00","id":2006275,"links":{},"metadata":{"_buckets":{"deposit":"6dcc6ebb-9e23-4de3-99b5-609cfaaf6117"},"_deposit":{"created_by":17,"id":"2006275","owners":[17],"pid":{"revision_id":0,"type":"depid","value":"2006275"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:02006275","sets":["499:508:509:1685060434835"]},"author_link":[],"control_number":"2006275","item_1615768549627":{"attribute_name":"出版タイプ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_9_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-05","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"2","bibliographicPageEnd":"368","bibliographicPageStart":"362","bibliographicVolumeNumber":"85","bibliographic_titles":[{"bibliographic_title":"Nagoya Journal of Medical Science","bibliographic_titleLang":"en"}]}]},"item_9_description_4":{"attribute_name":"内容記述","attribute_value_mlt":[{"subitem_description":"We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyping due to primary amenorrhea. Ultrasound examination revealed a small uterus. Chromosomal analysis showed a 46,XY karyotype. A polymerase chain reaction assay revealed the presence of the sex-determining region Y gene. Next-generation sequencing detected the NM_000044.6(AR):c.2170C>T(p.Pro274Ser) mutation, which was confirmed by Sanger sequencing. There is only one previous report of this mutation in a child with complete androgen insensitivity syndrome. In the family presented in this study, there were four more phenotypic adult females with primary amenorrhea and a phenotypic female infant with testes in the inguinal canals. The infant (first cousin once removed of the proband) presented with inguinal hernia/swelling in a phenotypic female and one of the four abovementioned adults had similar genetic analysis results. This is the second report of a missense mutation NM 000044.6(AR):c.2170C>T in the world and the first study to document a pedigree consisting of several individuals with CAIS as a result of this mutation. The presence of a tiny uterus in the proband, which is a rare occurrence in complete androgen insensitivity syndrome, is a unique clinical indicator of the disorder’s variable expressivity.","subitem_description_language":"en","subitem_description_type":"Abstract"},{"subitem_description":"This is an Open Access article distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (http://creativecommons.org/licenses/by-nc-nd/4.0/).","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_9_identifier_registration":{"attribute_name":"ID登録","attribute_value_mlt":[{"subitem_identifier_reg_text":"10.18999/nagjms.85.2.362","subitem_identifier_reg_type":"JaLC"}]},"item_9_publisher_32":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"Nagoya University Graduate School of Medicine, School of Medicine","subitem_publisher_language":"en"}]},"item_9_relation_43":{"attribute_name":"関連情報","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/852.html","subitem_relation_type_select":"URI"}}]},"item_9_rights_12":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International","subitem_rights_language":"en","subitem_rights_resource":"http://creativecommons.org/licenses/by-nc-nd/4.0/"}]},"item_9_source_id_7":{"attribute_name":"収録物識別子","attribute_value_mlt":[{"subitem_source_identifier":"0027-7622","subitem_source_identifier_type":"PISSN"},{"subitem_source_identifier":"2186-3326","subitem_source_identifier_type":"EISSN"}]},"item_access_right":{"attribute_name":"アクセス権","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Ha, Thi Minh Thi","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Le, Phan Tuong Quynh","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Le, Thanh Nha Uyen","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hoang, Thi Thuy Yen","creatorNameLang":"en"}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2023-05-26"}],"displaytype":"detail","filename":"16_Ha.pdf","filesize":[{"value":"16.8 MB"}],"format":"application/pdf","licensetype":"license_5","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://nagoya.repo.nii.ac.jp/record/2006275/files/16_Ha.pdf"},"version_id":"d702cb7b-5da3-4c34-9f34-62702b100f97"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"androgen insensitivity syndrome","subitem_subject_scheme":"Other"},{"subitem_subject":"androgen receptor gene","subitem_subject_scheme":"Other"},{"subitem_subject":"c.2170C>T (p.Pro274Ser)","subitem_subject_scheme":"Other"},{"subitem_subject":"primary amenorrhea","subitem_subject_scheme":"Other"},{"subitem_subject":"testes in the inguinal canals","subitem_subject_scheme":"Other"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"departmental bulletin paper","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome","subitem_title_language":"en"}]},"item_type_id":"40001","owner":"17","path":["1685060434835"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2023-05-26"},"publish_date":"2023-05-26","publish_status":"0","recid":"2006275","relation_version_is_last":true,"title":["An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome"],"weko_creator_id":"17","weko_shared_id":-1},"updated":"2023-05-26T02:45:59.467829+00:00"}