Objective:To analyze the distribution characteristics of special types of diabetes in China, in order to provide a theoretical basis for the diagnosis and treatment of special types of diabetes.Methods:Pubmed, CNKI, and WanFang Data were searched for the case reports and clinical studies of special types of diabetes in China from 2011 to 2021. After independent literature screening by 2 researchers according to the inclusion and exclusion criteria, diseases and the number of corresponding cases included were extracted for statistics. The etiological composition and disease characteristics of three subtypes of special type diabetes were analyzed.Results:A total of 613 articles(7 377 patients)were included and roughly divided into eight subtypes of special type diabetes according to etiological classification for disease composition analysis. The results by ratio in descending order were as follows: mono-genetic gene defects in islet β-cell function, pancreatogenic diabetes, diabetes induced by drugs or chemicals, endocrine disease, mono-genetic gene defects in insulin action, other genetic syndromes associated with diabetes, infection, and uncommon immune-mediated diabetes. The disease composition of the three subtypes of special types of diabetes that we focused on were mono-genetic gene defects in islet β-cell function(50.21%), pancreatogenic diabetes(35.65%), and mono-genetic gene defects in insulin action(1.56%). The composition analysis of the special types of diabetes in each subtype showed that neonatal diabetes mellitus(NDM, n=1 749, 23.71%)and maturity onset diabetes in young(MODY, n=1 554, 21.07%)accounted for the largest proportions. According to the composition analysis of each subtype of MODY patients, the top three subtypes were MODY2(50.89%), MODY3(16.03%), and MODYX(8.91%). In addition, taking MODY as an example, patients with de novo mutations(DNMs)and(or)new mutation sites were summarized and analyzed. The results revealed 31 MODY patients with DNMs(1.99%) and 339 MODY patients with new mutation sites(21.81%). Conclusions:According to the literature analysis, NDM and MODY represent the largest proportion of patients with special type diabetes in China. MODY2 patients make up the largest proportion of MODY patients. In addition, diabetic patients carrying DNMs and(or)new mutation sites should be taken seriously.

Objective:To evaluate the role of Dorea in glucose intolerance of people with obesity. Methods:This study recruited 113 young individuals with obesity and varying degree of glucose tolerance [body mass index(BMI)≥30 kg/m 2] and 105 controls, comparing the metabolic phenotypes and Dorea abundance. Correlation analysis and ROC analysis were performed to assess the association between Dorea and clinical parameters and its predictive role in predicting glucose intolerance. Results:(1) Metabolic parameters were higher in obesity group than the control group. There was no difference in body weight, BMI and WHR among subgroups classified by glucose tolerance in people with obesity. (2) The abundance of Dorea, Dorea formicigenerans were higher in obese individuals, however showing a downward trend in accordance with glucose intolerance. The abundance was inversely associated with OGTT-2 h plasma glucose and HbA 1C, while positively associated with HOMA-β. Logistic regression demonstrated that Dorea formicigenerans was an independent protective factor after adjusting confounders such as age and gender in the prevention of glucose intolerance. (3) ROC analysis exhibited that the AUC values of Dorea formicigenerans was 0.73 in the total population. Conclusion:Dorea and Dorea formicigenerans exert protective effect on glucose metabolism in obese subjects. The abundance of Dorea and Dorea formicigenerans can be used as predictors of glucose intolerance risk in obese subjects, which facilitate the early screening and monitoring.

Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.

Since December 2019, the outbreak of coronavirus disease 2019 (COVID-19) has occurred in China. Higher risk of COVID-19 infection and worse prognosis were observed among patients with diabetes. There are rigorous challenges existing in terms of diabetes prevention and glycemic control in primary medical care during period of COVID-19. Here, expert recommendations were developed by Chinese diabetologists, healthcare providers, and public health administrators to improve the ability of primary health facilities and provide standardized basic public health and medical services throughout country. The main contents include basic requirements for management, workflow of health management, referral, treatment, and long-term follow-up.

Blood glucose monitoring is clinically used to assess the degree of glucose metabolism disorders in diabetic patients, reflect the efficacy of the antidiabetic medications and to guide the adjustment of the hypoglycemic regimens. The technology of blood glucose monitoring is changing with each passing day, from frequently fingertip blood sampling to subcutaneous continuous blood glucose monitoring; from invasive to minimally invasive, and non-invasive development. At the same time, blood glucose monitoring information is analyzed from simple numerical values, to visual charts, to trend judgments. Unlike venous plasma glucose measurements, the results of blood glucose monitoring are always considered in terms of accuracy and precision. Newer, more accurate non-invasive blood glucose monitoring devices are looking forward to being applied soon.

In the past two years, a line of basic and genetic findings have been produced in the field of type 2 diabetes. Some evidence has suggested that mature β cell under long-term metabolic stress could de-differentiate into pre-endocrine cells and re-differentiate into α and PP endocrine cells. Several key factors were reported with genetic modified animal models in the past two years. A novel adipokine, Asprosin was found to control insulin resistance and food intake in both humans and mice. Additionally, researchers reported that gut microbiota was associated with the development of type 2 diabetes, and a few bacteria or certain enterotype could be valuable in the prediction of prevention and clinical intervention for diabetes. The genetic composition for missing heritability of type 2 diabetes and obesity was revealed with the next-generation sequencing strategy. Importantly, scientists at home and abroad made a significant progress in the field during the past few years, which should be reviewed here. (Chin J Endocrinol Metab, 2018, 34: 605-609)

[Summary] All patients with cholesterol side-chain cleavage enzyme ( P450scc) deficiency that have been reported presented with early adrenal failure. Here we described a 35-year-old male presented with infertility as the only initial presenting complaint. He had received two separate surgeries to remove bilateral testicular masses. We reevaluated the resected tumors and found testicular adrenal rest tumor ( TART) pathology in the resected tumor. We profiled steroid hormones and found significantly elevated ACTH. CT scan revealed bilateral adrenal hyperplasia. Mutation screening identified compound heterozygous mutations (R353W and P432L) in the P450scc encoding gene (CYP11A1). The patient was finally diagnosed as congenital adrenal hyperplasia.

Objective To investigate the changes in nunmber and function of natural killer ( NK ) cells in patients with newly-diagnosed type 1 diabetes mellitus.Methods Cell courning was performed in peripheral blood mononuclear cell ( PBMC ) subsets in 43 cases with newly diagnosed type 1 diabetes ( T1D ),14 cases with newly diagnosed type 2 diabetes( T2D ) and 21 cases of normal controls by flow cytometry sorting.And then,isolating and collecting NK cells were performed in T1D patients and normal controls.Real time PCR was performed to evaluate the mRNA expression levels of NK cell activity related genes IFN-γ,perforin,NKp46,and NKp30 in NK cells.Results Compared to normal controls,both the proportion and the absolute counting of NK cells in PBMC from patients with T1D were significantly decreased [( 102±86 )/μl vs ( 355±264 )/μ1,P＜0.01],while only the proportion of CD4+ cell were slightly increased( P＜0.05 ).No statistical difference was observed regarding CD8+ T cells ( P＞0.05 ).mRNA expression levels of NK cell activity related genes perforin and NKp46 in NK cells were remarkably down-regulated ( P＜0.05 ),while IFN-γ and NKp30 were not changed compared with normal controls.Conclusions The reduced number and functional deficiency of NK cells may lead to the immune dysfunction in T1D and play an important role in the development of T1D.

The direetion of radical treatment ( complete remission ) for type 1A diabetes is to correct immune disorder and to full repair damaged pancreatic islet cells.It includes the application of immune modulators and islet β-cell replacement therapy.Autologous hematopoietic stem cell transplantation (AHSCT) is a new promising approach for the treatment of type 1A diabetes by reconstitution of immunotolerance and promoting β-cell regeneration.The candidates for AHSCT are limited to the people with early-onset diabetes and keeping obvious residual islet β-cell function.Because of the potential mechanisms underlying the action of AHSCT is still not very clear,careful balancing of the pros and coins of A HSCT is still needed by further trials and intensive studies.

Objective To investigate the association of impaired glucose regulation and adiponectin (APN)with the clinical severity of coronary lesions.Methods A total of 210 cases of suspected coronary heart disease were examined by coronary artery angiography.The patients were differentiated as 4 groups:42 patients with normal glucose tolerance (NGT),36 patients with impaired fasting glucose(IFG),92 patients with impaired glucose tolerance (IGT;including 44 cases with postpraudial 2h plasma glucose(2 hPG) ＜ 10 mmol/L as IGT1 subgroup and 48 cases with 2h PG ≥ 10 mmol/L as IGT2 subgroup),and 40 patients with combination of IFG and IGT.Accordingly,body mass index (BMI),blood pressure,blood lipid,insulin,APN and CRP were measured to evaluate by Gensini score.Results The incidence of coronary heart disease and Gensini scores in IGT and IGT+IFG groups were significantly higher than those in either IFG or NGT subset(P＜0.05).APN in both IGT and IGT+IFG subsets was significantly lower than that in IFG or NGT subsets(P＜0.05),CRP values were significantly raised in both IGT and IGT+IFG subgroups compared with the other 2 subgroups(P＜0.05).Statistical difference in Gensini scores and APN was found between the 2 IGT subgroups (P＜0.05).Gensini scores were negatively correlated with APN level.Multivariate regression analysis showed that both APN and HOMA-IR values were independently correlated with the Gensini scores.Conclusion The lowered APN may serve as a more sensitive factor in predicting the coronary lesions in patients with IGR,especially in IGT cases.It woula be beneficial to cardiovascular complication by controlling the postprandial blood glucose level below 10 mmol/L.