Review
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Dec 15, 2023; 14(12): 1738-1753
Published online Dec 15, 2023. doi: 10.4239/wjd.v14.i12.1738
Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directions
Hong-Yan Sun, Xiao-Yan Lin
Hong-Yan Sun, Xiao-Yan Lin, Department of Endocrine and Metabolic Diseases, Yantaishan Hospital, Yantai 264003, Shandong Province, China
Author contributions: Sun HY and Lin XY contributed equally to this study; both authors reviewed and approved the final version of the manuscript.
Conflict-of-interest statement: Authors declare no conflict of interests for this article.
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: Xiao-Yan Lin, MD, PhD, Professor, Department of Endocrine and Metabolic Diseases, Yantaishan Hospital, No.10087, Keji Avenue, Laishan District, Yantai City, Shandong Province, 264003, China. lxyfvn776@126.com
Received: September 2, 2023
Peer-review started: September 2, 2023
First decision: September 29, 2023
Revised: October 10, 2023
Accepted: November 14, 2023
Article in press: November 14, 2023
Published online: December 15, 2023
Processing time: 102 Days and 23.3 Hours
Abstract

Monogenic diabetes is caused by one or even more genetic variations, which may be uncommon yet have a significant influence and cause diabetes at an early age. Monogenic diabetes affects 1 to 5% of children, and early detection and gene-tically focused treatment of neonatal diabetes and maturity-onset diabetes of the young can significantly improve long-term health and well-being. The etiology of monogenic diabetes in childhood is primarily attributed to genetic variations affecting the regulatory genes responsible for beta-cell activity. In rare instances, mutations leading to severe insulin resistance can also result in the development of diabetes. Individuals diagnosed with specific types of monogenic diabetes, which are commonly found, can transition from insulin therapy to sulfonylureas, provided they maintain consistent regulation of their blood glucose levels. Scientists have successfully devised materials and methodologies to distinguish individuals with type 1 or 2 diabetes from those more prone to monogenic diabetes. Genetic screening with appropriate findings and interpretations is essential to establish a prognosis and to guide the choice of therapies and management of these interrelated ailments. This review aims to design a comprehensive literature summarizing genetic insights into monogenetic diabetes in children and adolescents as well as summarizing their diagnosis and mana-gement.

Keywords: Monogenic diabetes; Maturity-onset diabetes of the young; Insulin resistance; Genetic mutation; Beta-cell function

Core Tip: Monogenic diabetes, a rare yet impactful condition in childhood, results from genetic variations, causing early-onset diabetes. Affecting 1%-5% of children, early detection and tailored genetic treatments can enhance long-term health. Culprits include genetic variations in beta-cell regulatory genes and severe insulin resistance. Identifying specific types allows transitioning to sulfonylureas while maintaining glucose control. Tools to differentiate diabetes types underscore genetic screening's importance for prognosis and treatment guidance. This review delves into genetic insights into childhood monogenic diabetes, offering diagnosis and management guidance for affected youth's better health.