Neonatal diabetes mellitus (NDM) usually occurs within the first 6 months of life, with a glycemic cut-off point of a whole blood glucose concentration greater than 6.94 mmol/L or a plasma glucose concentration greater than 8.33 mmol/L. It is divided into transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM), each accounting for approximately 50% of cases. The former tends to resolve within a few months, while the latter requires lifelong treatment. The prevalence of NDM has been reported in the literature to be at least 1 in 160,000, with a prevalence of 1 in 26.0 to 1 in 215,000 for PNDM. The typical features of NDM are positive urine glucose, ketosis and metabolic acidosis. The most common genetic alteration in children with TNDM is an abnormality of chromosome 6. It is mainly overexpression of paternally imprinted genes on 6q24 and, to a lesser extent, hypomethylation of regions on 6q24 originating from the maternal chromosome. Currently, most children with TNDM are treated with low-dose insulin, and the majority of TNDM patients return to normal blood glucose levels a few months after the onset of the disease, with a few patients persisting with reduced glucose tolerance. However, 60% of children with TNDM may have a relapse of diabetes during childhood or adolescence. After relapse, lifelong insulin maintenance therapy is required. The incidence of intrauterine growth retardation in children with PNDM is low, and diabetes is diagnosed at a slightly older age, often with ketoacidosis at presentation, requiring lifelong treatment. pNDM is often associated with other systemic abnormalities, such as poor muscle strength, mental retardation, and epilepsy. The clinical distinction between the two is mainly based on the time of onset and the presence of a tendency to spontaneous remission. The current time cut-off for differentiating between the two is 18 months after birth. More than 20 PNDM causative genes have been identified, but 40% of PNDM patients still have unidentified causative genes. Among them, mutations in the gene encoding the KATP channel in pancreatic beta cells are the most common, i.e., KCNJ11/ABCC8 heterozygous mutation, accounting for 1/3 to 1/2 of all children with PNDM. About 20% of patients with PNDM caused by mutations in the KCNJ11 gene have neurological developmental abnormalities, 5% have developmental delay, muscle weakness and epilepsy, which is called DEND syndrome; for those with only For those with only developmental delay and muscle weakness, the syndrome is called iDEND syndrome. In terms of treatment, most children with PNDM require long-term insulin therapy. However, for PNDM caused by KATP channel gene variants, about 90% of sulfonylurea therapy is effective. For patients with severe DEND syndrome and prolonged disease that has produced beta cell damage, sulfonylurea therapy is less effective, and there are no clear criteria for the cut-off point of the disease course and the severity of clinical manifestations. These diseases are rare, but they are dangerous for the child and his or her family, are difficult to treat, and are often not properly diagnosed. Clinicians need to improve their understanding of PNDM and improve clinical management. However, because of the heterogeneity of the clinical phenotype and the genetic variation of PNDM, many cases cannot be diagnosed by clinical means alone, and a molecular genetic diagnostic platform for these diseases needs to be established and individualized. Numerous studies have shown that diabetes with onset within the first 6 months of life is caused by a single gene variant, and therefore the age cut-off for the diagnosis of neonatal diabetes has traditionally been set at 6 months of life. However, recent studies have found that NDM caused by insulin gene variants can start in the first 6 to 12 months of life, so the age cut-off for the diagnosis of neonatal diabetes has now been changed to 1 year after birth. However, the possibility of monogenic diabetes, including NDM, should also be considered in children older than 1 year of age with negative insulin autoantibodies and a clear family history. Currently, basic and clinical studies on NDM are mainly from Europe and the United States, and only a few case studies from Japan and Korea have been reported in Asian populations. In China, this particular type of diabetes has not received sufficient attention, and most NDM patients are still diagnosed as type 1 diabetes and given insulin therapy for life. It is clinically important to conduct studies on genetic diagnosis and clinical conversion therapy for Chinese NDM patients. This year at the 17th Annual Meeting of the Chinese Medical Association’s Diabetes Society, Professor Weng Jianping announced the launch of a registry study of specific types of diabetes in China, and young members of local diabetes societies will take on the responsibility of screening. If you have such a patient, please contact me through the website and we will provide assistance in clinical treatment and genetic testing.