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1/14/2026 8:09:15 AM | Browse: 2 | Download: 14
Publication Name World Journal of Diabetes
Manuscript ID 113821
Country China
Received
2025-09-04 03:17
Peer-Review Started
2025-09-04 08:30
First Decision by Editorial Office Director
2025-10-13 07:26
Return for Revision
2025-10-13 07:26
Revised
2025-10-26 16:18
Publication Fee Transferred
2025-10-27 02:02
Second Decision by Editor
2025-11-26 02:40
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director
2025-12-03 07:47
Articles in Press
2025-12-03 07:47
Edit the Manuscript by Language Editor
Typeset the Manuscript
2026-01-04 00:24
Publish the Manuscript Online
2026-01-14 08:09
ISSN 1948-9358 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Endocrinology & Metabolism
Manuscript Type Case Report
Article Title Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Kun Wang, Juan Zheng, Long-Chao Gu, Rong-Rong Li, Xu-Dong Su, Jie Bai and Lin Liao
ORCID
Author(s) ORCID Number
Kun Wang http://orcid.org/0000-0002-0826-9288
Juan Zheng http://orcid.org/0000-0003-2253-9018
Long-Chao Gu http://orcid.org/0009-0000-2694-1368
Rong-Rong Li http://orcid.org/0000-0003-0019-7248
Xu-Dong Su http://orcid.org/0000-0003-1752-7661
Jie Bai http://orcid.org/0009-0003-9717-8840
Lin Liao http://orcid.org/0000-0002-0278-4879
Funding Agency and Grant Number
Corresponding Author Xu-Dong Su, Department of Endocrinology and Metabology, Liaocheng People’s Hospital, No. 67 Dongchang West Road, Liaocheng 252000, Shandong Province, China. sxd0080@sina.com
Key Words Rabson-Mendenhall syndrome; Insulin receptor gene; Splice mutation; Hyperinsulinemia; Case report
Core Tip Rabson-Mendenhall syndrome is a rare monogenic diabetes caused by insulin receptor gene mutations, with no effective treatment currently available. Early diagnosis is essential for treatment planning and prognosis evaluation. We report a case of Rabson-Mendenhall syndrome where clinical features, whole-exome sequencing, and bioinformatics identified the c.1123+2 T>C mutation as likely pathogenic. Due to severe insulin resistance, a combination of oral hypoglycemic agents with different mechanisms may be appropriate. Novel therapies, such as leptin, hold potential for future research.
Publish Date 2026-01-14 08:09
Citation

Wang K, Zheng J, Gu LC, Li RR, Su XD, Bai J, Liao L. Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature. World J Diabetes 2026; 17(1): 113821

URL https://www.wjgnet.com/1948-9358/full/v17/i1/113821.htm
DOI https://dx.doi.org/10.4239/wjd.v17.i1.113821
Full Article (PDF) WJD-17-113821-with-cover.pdf
CARE Checklist–2016 113821-CARE-Checklist-2016.pdf
Manuscript File 113821_Auto_Edited_081830.docx
Answering Reviewers 113821-answering-reviewers.pdf
Audio Core Tip 113821-audio.mp3
Conflict-of-Interest Disclosure Form 113821-conflict-of-interest-statement.pdf
Copyright License Agreement 113821-copyright-assignment.pdf
Signed Consent for Treatment Form(s) or Document(s) 113821-informed-consent-statement.pdf
Non-Native Speakers of English Editing Certificate 113821-non-native-speakers.pdf
Peer-review Report 113821-peer-reviews.pdf
Journal Editor-in-Chief Review Report 113821-journal-editor-in-chief.pdf
Scientific Misconduct Check 113821-scientific-misconduct-check.png
Scientific Editor Work List 113821-scientific-editor-work-list.pdf
CrossCheck Report 113821-crosscheck-report.pdf