Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Diabetes. Jul 15, 2023; 14(7): 1137-1145
Published online Jul 15, 2023. doi: 10.4239/wjd.v14.i7.1137
Maturity-onset diabetes of the young type 9 or latent autoimmune diabetes in adults: A case report and review of literature
Guang-Hong Zhou, Min Tao, Qing Wang, Xing-Yu Chen, Jing Liu, Li-Li Zhang
Guang-Hong Zhou, Min Tao, Qing Wang, Xing-Yu Chen, Jing Liu, Li-Li Zhang, Department of Endocrinology, The Second Affiliated Hospital, Chongqing Medical University, Chongqing 400010, China
Author contributions: Zhou GH and Tao M contributed to manuscript writing and editing; Chen XY, Wang Q and Liu J contributed to data collection and analysis; Zhang LL contributed to conceptualization and supervision; All authors read and approved the final manuscript.
Supported by the National Natural Science Foundation of China, No. 81300702; and the Natural Science Foundation Project of Chongqing CSTC, No. cstc2018jcyjAXO210.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest to disclose.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
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: Li-Li Zhang, MD, PhD, Associate Professor, Doctor, Postdoc, Research Fellow, Department of Endocrinology, The Second Affiliated Hospital, Chongqing Medical University, No. 74 LinJiang Road, Yuzhong District, Chongqing 400010, China. zhanglili.jl@foxmail.com
Received: December 17, 2022
Peer-review started: December 17, 2022
First decision: February 20, 2023
Revised: February 27, 2023
Accepted: June 5, 2023
Article in press: June 5, 2023
Published online: July 15, 2023
Processing time: 204 Days and 17.4 Hours
Abstract
BACKGROUND

Maturity-onset diabetes of the young (MODY) is a monogenic genetic disease often clinically misdiagnosed as type 1 or type 2 diabetes. MODY type 9 (MODY9) is a rare subtype caused by mutations in the PAX4 gene. Currently, there are limited reports on PAX4-MODY, and its clinical characteristics and treatments are still unclear. In this report, we described a Chinese patient with high autoimmune antibodies, hyperglycemia and a site mutation in the PAX4 gene.

CASE SUMMARY

A 42-year-old obese woman suffered diabetes ketoacidosis after consuming substantial amounts of beverages. She had never had diabetes before, and no one in her family had it. However, her autoantibody tested positive, and she managed her blood glucose within the normal range for 6 mo through lifestyle inter-ventions. Later, her blood glucose gradually increased. Next-generation sequencing and Sanger sequencing were performed on her family. The results revealed that she and her mother had a heterozygous mutation in the PAX4 gene (c.314G>A, p.R105H), but her daughter did not. The patient is currently taking liraglutide (1.8 mg/d), and her blood glucose levels are under control. Previous cases were retrieved from PubMed to investigate the relationship between PAX4 gene mutations and diabetes.

CONCLUSION

We reported the first case of a PAX4 gene heterozygous mutation site (c.314G>A, p.R105H), which does not appear pathogenic to MODY9 but may facilitate the progression of latent autoimmune diabetes in adults.

Keywords: Maturity-onset diabetes of the young; PAX4; Latent autoimmune diabetes in adults; Type 1 diabetes; Case report

Core Tip: Maturity-onset diabetes of the young type 9 (MODY9), as a subtype of MODY caused by mutations in the PAX4 gene, has been poorly reported, and its clinical features and treatments remain unclear. We reported a heterozygous mutation in the PAX4 gene (c.314G>A, p.R105H) in a patient with latent autoimmune diabetes in adults (LADA). Based on the analysis of the cases indexed in PubMed, it is the first reported case of PAX4 with LADA. The PAX4 heterozygous mutation reported in the present case may not be considered for MODY9 and may be facilitated for the onset and progress of LADA.