一名患有坦普尔综合征并发 2 型糖尿病的日本男性患者。

IF 1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2025-01-15 Epub Date: 2024-05-16 DOI:10.2169/internalmedicine.2743-23

Masanori Iwanishi, Tohru Yorifuji, Yukako Yamamoto, Jun Ito-Kobayashi, Akira Shimatsu, Shingo Kikugawa, Masayo Kagami

{"title":"一名患有坦普尔综合征并发 2 型糖尿病的日本男性患者。","authors":"Masanori Iwanishi, Tohru Yorifuji, Yukako Yamamoto, Jun Ito-Kobayashi, Akira Shimatsu, Shingo Kikugawa, Masayo Kagami","doi":"10.2169/internalmedicine.2743-23","DOIUrl":null,"url":null,"abstract":"We herein present the case of a 21-year-old male Japanese diabetic patient with Temple syndrome, caused by maternal uniparental disomy of chromosome 14. The patient was overweight and had type 2 diabetes, dyslipidemia, metabolic dysfunction-associated steatotic liver disease, and microalbuminuria. He had an increased fat mass in the truncal region and a decreased lean mass throughout the body. This may lead to insulin resistance due to the absence of delta-like homolog 1 (DLK1) and retrotransposon gag-like 1 (RTL1). The patient had experienced social withdrawal at home (hikikomori in Japanese), had poorly controlled type 2 diabetes, and was overweight despite receiving diet therapy and oral hypoglycemic agents.","PeriodicalId":13719,"journal":{"name":"Internal Medicine","volume":" ","pages":"251-259"},"PeriodicalIF":1.0000,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.\",\"authors\":\"Masanori Iwanishi, Tohru Yorifuji, Yukako Yamamoto, Jun Ito-Kobayashi, Akira Shimatsu, Shingo Kikugawa, Masayo Kagami\",\"doi\":\"10.2169/internalmedicine.2743-23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We herein present the case of a 21-year-old male Japanese diabetic patient with Temple syndrome, caused by maternal uniparental disomy of chromosome 14. The patient was overweight and had type 2 diabetes, dyslipidemia, metabolic dysfunction-associated steatotic liver disease, and microalbuminuria. He had an increased fat mass in the truncal region and a decreased lean mass throughout the body. This may lead to insulin resistance due to the absence of delta-like homolog 1 (DLK1) and retrotransposon gag-like 1 (RTL1). The patient had experienced social withdrawal at home (hikikomori in Japanese), had poorly controlled type 2 diabetes, and was overweight despite receiving diet therapy and oral hypoglycemic agents.\",\"PeriodicalId\":13719,\"journal\":{\"name\":\"Internal Medicine\",\"volume\":\" \",\"pages\":\"251-259\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2025-01-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Internal Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.2169/internalmedicine.2743-23\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/5/16 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Internal Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.2169/internalmedicine.2743-23","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/5/16 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}

引用次数: 0

摘要

我们在此介绍一例 21 岁的日本男性糖尿病患者，他患有坦普尔综合征（Temple Syndrome），由母体 14 号染色体单亲断裂引起。患者体重超重，患有 2 型糖尿病、血脂异常、代谢功能障碍相关性脂肪肝和微量白蛋白尿。他的躯干部位脂肪量增加，全身瘦肉量减少。由于缺乏δ样同源物1（DLK1）和逆转录病毒gag样1（RTL1），这可能会导致胰岛素抵抗。该患者曾在家中出现社交退缩（日语中的蛰居），2 型糖尿病控制不佳，体重超重，尽管接受了饮食治疗和口服降糖药。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes Mellitus.

We herein present the case of a 21-year-old male Japanese diabetic patient with Temple syndrome, caused by maternal uniparental disomy of chromosome 14. The patient was overweight and had type 2 diabetes, dyslipidemia, metabolic dysfunction-associated steatotic liver disease, and microalbuminuria. He had an increased fat mass in the truncal region and a decreased lean mass throughout the body. This may lead to insulin resistance due to the absence of delta-like homolog 1 (DLK1) and retrotransposon gag-like 1 (RTL1). The patient had experienced social withdrawal at home (hikikomori in Japanese), had poorly controlled type 2 diabetes, and was overweight despite receiving diet therapy and oral hypoglycemic agents.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.