{"created":"2023-05-26T01:05:26.655016+00:00","id":2006276,"links":{},"metadata":{"_buckets":{"deposit":"5f11239a-aedd-48a6-898a-ed1a0681118c"},"_deposit":{"created_by":17,"id":"2006276","owners":[17],"pid":{"revision_id":0,"type":"depid","value":"2006276"},"status":"published"},"_oai":{"id":"oai:nagoya.repo.nii.ac.jp:02006276","sets":["499:508:509:1685060434835"]},"author_link":[],"control_number":"2006276","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":"374","bibliographicPageStart":"369","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":"Congenital hypothyroidism (CH) is a common heterogeneous endocrine disorder. The thyroid-stimulating hormone receptor gene (TSHR) is one of the major candidate genes associated with CH. Studies have investigated the possible correlations between the specific clinical features and the presence of TSHR variants. However, only a few reports have focused on the long-term follow-up of patients with CH. Here we present a case of CH-associated TSHR p.Arg109Gln and p.Arg450His rare compound heterozygous variants, with a follow-up performed until adolescence. The patient had high serum TSH levels during newborn screening. Oral administration of levothyroxine (l-T4) was initiated at 1 month of age. The ultrasonogram revealed normal thyroid morphology and blood flow. Reduced uptake of I-123 and negative perchlorate test was observed. A small amount of l-T4 remained needed although l-T4 could be steadily reduced by puberty. The patient was diagnosed with orthotopic, nongoitrous, and permanent CH. He had no nonclassical TSH resistance. Patients with the TSHR p.Arg109Gln compound heterozygous variant exhibit permanent CH with high TSH levels and normal or slightly lower fT4 levels. In the future, genotype identification could help predict the long-term prognosis and reduce the requirement for detailed examinations. More case studies are needed to determine the relationship between genetic variants and clinical features in CH.","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.85.2.369","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":"Watanabe, Daisuke","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Yagasaki, Hideaki","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Mitsui, Yumiko","creatorNameLang":"en"}]},{"creatorNames":[{"creatorName":"Inukai, Takeshi","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":"17_Watanabe.pdf","filesize":[{"value":"3.1 MB"}],"format":"application/pdf","licensetype":"license_5","mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://nagoya.repo.nii.ac.jp/record/2006276/files/17_Watanabe.pdf"},"version_id":"2fdfcf81-13c8-452b-8ca3-358e28b22c4b"}]},"item_keyword":{"attribute_name":"キーワード","attribute_value_mlt":[{"subitem_subject":"congenital hypothyroidism","subitem_subject_scheme":"Other"},{"subitem_subject":"TSHR","subitem_subject_scheme":"Other"},{"subitem_subject":"p.Arg109Gln","subitem_subject_scheme":"Other"},{"subitem_subject":"genotype-phenotype","subitem_subject_scheme":"Other"},{"subitem_subject":"nonclassical TSH resistance","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":"Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants","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":"2006276","relation_version_is_last":true,"title":["Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants"],"weko_creator_id":"17","weko_shared_id":-1},"updated":"2023-05-26T02:47:48.680017+00:00"}