Item type |
学術雑誌論文 / Journal Article(1) |
公開日 |
2023-06-05 |
タイトル |
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タイトル |
A family with type A insulin resistance syndrome caused by a novel insulin receptor mutation |
言語 |
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言語 |
eng |
資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
著者 |
HORIKAWA, Osamu
UGI, Satoshi
TAKAYOSHI, Tomofumi
OMURA, Yasushi
YONISHI, Maya
SATO, Daisuke
FUJITA, Yukihiro
FUKE, Tomoya
HIROTA, Yushi
OGAWA, Wataru
MAEGAWA, Hiroshi
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著者別名 |
堀川, 修
卯木, 智
夜西, 麻椰
佐藤, 大介
藤田, 征弘
前川, 聡
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抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Summary: A 17-year-old boy was referred to our endocrinology clinic for a clinical investigation of hyperinsulinemia. An oral glucose tolerance test showed plasma glucose concentrations in the normal range. However, insulin concentrations were considerably elevated (0 min: 71 μU/mL; 60 min: 953 μU/mL), suggesting severe insulin resistance. An insulin tolerance test confirmed that he had insulin resistance. There was no apparent hormonal or metabolic cause, including obesity. The patient had no outward features of hyperinsulinemia, including acanthosis nigricans or hirsutism. However, his mother and grandfather also had hyperinsulinemia. Genetic testing showed that the patient (proband), his mother, and his grandfather had a novel p.Val1086del heterozygous mutation in exon 17 of the insulin receptor gene (INSR). Although all three family members have the same mutation, their clinical courses have been different. The onset of the mother's diabetes was estimated at 50 years, whereas the grandfather developed diabetes at 77 years. |
抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
Learning points: Type A insulin resistance syndrome is caused by mutations in the insulin receptor (INSR) gene and results in severe insulin resistance. Genetic evaluation should be considered in adolescents or young adults with dysglycemia when an atypical phenotype, such as severe insulin resistance, or a relevant family history is observed. Clinical courses may differ even if the same genetic mutation is found in a family. |
書誌情報 |
en : Endocrinology, diabetes & metabolism case reports
巻 2023,
号 2,
発行日 2023-04-12
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出版者 |
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出版者 |
BioScientifica Ltd. |
ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
2052-0573 |
PMID |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
PMID |
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関連識別子 |
37042492 |
DOI |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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関連識別子 |
https://doi.org/10.1530/edm-22-0362 |
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関連名称 |
10.1530/edm-22-0362 |
権利 |
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権利情報 |
© 2023 the author(s) |
フォーマット |
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内容記述タイプ |
Other |
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内容記述 |
application/pdf |
著者版フラグ |
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出版タイプ |
VoR |
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出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
資源タイプ |
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内容記述タイプ |
Other |
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内容記述 |
Journal Article |