Bhattacharya S, Fernandez CJ, Kamrul-Hasan ABM, Pappachan JM. Monogenic diabetes: An evidence-based clinical approach. World J Diabetes 2025; 16(5): 104787 [DOI: 10.4239/wjd.v16.i5.104787]
Corresponding Author of This Article
Joseph M Pappachan, MD, FRCP, Professor, Senior Researcher, Faculty of Science, Manchester Metropolitan University, All Saints Building, Oxford Road, Manchester M15 6BH, Greater Manchester, United Kingdom. drpappachan@yahoo.co.in
Research Domain of This Article
Endocrinology & Metabolism
Article-Type of This Article
Review
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Diabetes. May 15, 2025; 16(5): 104787 Published online May 15, 2025. doi: 10.4239/wjd.v16.i5.104787
Monogenic diabetes: An evidence-based clinical approach
Saptarshi Bhattacharya, Cornelius J Fernandez, Abul Bashar Mohammad Kamrul-Hasan, Joseph M Pappachan
Saptarshi Bhattacharya, Department of Endocrinology, Indraprastha Apollo Hospitals, Delhi 110076, India
Cornelius J Fernandez, Department of Endocrinology and Metabolism, Pilgrim Hospital, United Lincolnshire Hospitals NHS Trust, Boston PE21 9QS, Lincolnshire, United Kingdom
Abul Bashar Mohammad Kamrul-Hasan, Department of Endocrinology, Mymensingh Medical College, Mymensingh 2200, Bangladesh
Joseph M Pappachan, Faculty of Science, Manchester Metropolitan University, Manchester M15 6BH, Greater Manchester, United Kingdom
Joseph M Pappachan, Department of Endocrinology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India
Co-first authors: Saptarshi Bhattacharya and Cornelius J Fernandez.
Author contributions: Bhattacharya S and Fernandez CJ contributed to the initial drafting of the work by performing the literature search and interpretation of relevant literature and share the first authorship; Fernandez CJ and Kamrul-Hasan ABM prepared the figures and tables for the manuscript and contributed substantially in addition to the revision process; Pappachan JM conceptualized the idea and provided overall supervision to the drafting process and figure preparation; All authors contributed to the revision of the article for important intellectual content, and all authors have read and approved the final version of the manuscript.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Joseph M Pappachan, MD, FRCP, Professor, Senior Researcher, Faculty of Science, Manchester Metropolitan University, All Saints Building, Oxford Road, Manchester M15 6BH, Greater Manchester, United Kingdom. drpappachan@yahoo.co.in
Received: January 2, 2025 Revised: February 20, 2025 Accepted: March 11, 2025 Published online: May 15, 2025 Processing time: 114 Days and 11.1 Hours
Core Tip
Core Tip: Monogenic diabetes is an uncommon form of diabetes caused by single gene mutations. Depending on the type of underlying gene mutation, the disease can present at any age with diverse clinical presentations. The diagnostic workup includes genetic testing and may involve tests like C-peptide assay and autoantibody screening to exclude other forms of diabetes. Next-generation sequencing technologies such as targeted gene panels focusing on known monogenic diabetes genes, and whole-exome sequencing that analyze the protein-coding regions of the genome are replacing older methods like Sanger sequencing. Pitfalls in workup can include misdiagnosis as type 1 or type 2 diabetes, leading to inappropriate treatment and potential complications. This evidence-based review updates the current clinical approach to monogenic diabetes.
