Clinical and molecular characteristics of monogenic diabetes mellitus in children-single center study
10.3760/cma.j.cn311282-20240314-00102
- VernacularTitle:儿童单基因糖尿病临床与分子遗传特征——单中心研究
- Author:
Qiong CHEN
1
;
Fang LIU
1
;
Yan CUI
1
;
Yuan LI
1
;
Haiyan WEI
1
Author Information
1. 郑州大学附属儿童医院、河南省儿童医院、郑州儿童医院内分泌遗传代谢科，郑州 450053
- Publication Type:Journal Article
- Keywords:
Monogenic diabetes;
Children;
Genetic testing
- From:
Chinese Journal of Endocrinology and Metabolism
2025;41(2):129-134
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and molecular characteristics of monogenic diabetes in children at a single-center in Henan Province.Methods:Clinical data from children diagnosed with monogenic diabetes at the Department of Endocrinology and Genetic Metabolism, Henan Children’s Hospital, between January 2016 and August 2023 were analyzed, alongside molecular genetic testing.Results:Of 84 children suspected of monogenic diabetes, 44 were genetically diagnosed with a 52.4% positive rate. Diagnosis included neonatal diabetes mellitus(NDM, 14 cases), maturity-onset diabetes of the young(MODY, 22 cases), and other diabetes-related genetic syndromes(8 cases). NDM patients had a younger age at onset, higher blood glucose levels at admission, and a greater incidence of being small for gestational age and diabetic ketoacidosis compared to MODY patients( P<0.001). Three novel heterozygous mutations were identified in IGF1R and GCK genes, namely IGF1R c. 2650G>T, GCK c. 572G>C, GCK c. 766G>T. Conclusions:The high molecular diagnostic rate based on clinical phenotype, birth history, and family history enhances the diagnosis, management, genetic counseling, and prognosis of monogenic diabetes in children.
