X-linked adrenoleukodystrophy(X-ALD) is an inherited progressive neurometabolic disorder caused by mutations in the ATP-binding cassette subfamily D member 1(ABCD1) gene. The encoded ALD protein dysfunction leads to the accumulation of very-long-chain fatty acids(VLCFA). X-ALD is classified according to its clinical characteristics into childhood cerebral ALD, adolescent cerebral ALD, adult cerebral ALD, adrenomyeloneuropathy(AMN), pure adrenocortical insufficiency, and an asymptomatic phenotype, all of which can present with a variety of neurologic manifestations. In this study, we retrospectively analyzed the clinical manifestations, laboratory findings, genetic test results, and follow-up data of four patients with X-ALD, and investigated the clinical features and pathogenicity of the identified gene mutations. All four patients initially presented with adrenocortical insufficiency(Addison′s disease) and received glucocorticoid replacement therapy. Subsequently, all developed neurologic signs and symptoms with rapid progression. The final diagnosis was confirmed based on elevated VLCFA levels, brain magnetic resonance imaging(MRI) findings, and genetic analysis. Notably, a deletion mutation in Exon 10 of the ABCD1 gene was identified in one case for the first time. We report four cases of X-ALD presenting with adrenocortical insufficiency as the initial symptom, and briefly review the relevant literature to analyze the relationship between linical phenotypes and genetic loci, aiming to provide a reference for early diagnosis and treatment of the disease, and to reduce the risk of misdiagnosis and missed diagnosis.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

We report a family with multiple endocrine neoplasia type 1(MEN1), in which the proband presented with primary amenorrhea and was diagnosed with both a pituitary prolactinoma and an ACTH-secreting adenoma. Genetic testing identified a heterozygous MEN1 gene c. 1449_1476del mutation in the proband, as well as in six additional family members, who exhibited variable clinical phenotypes. Following initial transsphenoidal pituitary surgery, the proband's symptoms and biochemical abnormalities persisted, with elevated ACTH and cortisol levels. Functional imaging using [ 68Ga]-DOTA-TATE PET/CT confirmed residual pituitary tumor tissue, and a second surgery resulted in biochemical remission.

X-linked adrenoleukodystrophy(X-ALD) is an inherited progressive neurometabolic disorder caused by mutations in the ATP-binding cassette subfamily D member 1(ABCD1) gene. The encoded ALD protein dysfunction leads to the accumulation of very-long-chain fatty acids(VLCFA). X-ALD is classified according to its clinical characteristics into childhood cerebral ALD, adolescent cerebral ALD, adult cerebral ALD, adrenomyeloneuropathy(AMN), pure adrenocortical insufficiency, and an asymptomatic phenotype, all of which can present with a variety of neurologic manifestations. In this study, we retrospectively analyzed the clinical manifestations, laboratory findings, genetic test results, and follow-up data of four patients with X-ALD, and investigated the clinical features and pathogenicity of the identified gene mutations. All four patients initially presented with adrenocortical insufficiency(Addison′s disease) and received glucocorticoid replacement therapy. Subsequently, all developed neurologic signs and symptoms with rapid progression. The final diagnosis was confirmed based on elevated VLCFA levels, brain magnetic resonance imaging(MRI) findings, and genetic analysis. Notably, a deletion mutation in Exon 10 of the ABCD1 gene was identified in one case for the first time. We report four cases of X-ALD presenting with adrenocortical insufficiency as the initial symptom, and briefly review the relevant literature to analyze the relationship between linical phenotypes and genetic loci, aiming to provide a reference for early diagnosis and treatment of the disease, and to reduce the risk of misdiagnosis and missed diagnosis.

Body weight abnormalities, including overweight, obesity, and underweight, have become a dual public health challenge in Chinese adults: overweight and obesity lead to a variety of chronic complications, while underweight increases the risks of malnutrition, sarcopenia, and organ dysfunction. To systematically address these issues, multidisciplinary experts in endocrinology, sports science, nutrition, and psychiatry from various regions have held multiple weight management seminars. Based on the latest epidemiological data and clinical evidence, they expanded the guideline to include assessment and intervention strategies for underweight, in addition to the core content of obesity management. This guideline outlines the etiological mechanisms, evaluation methods, and multidimensional management strategies for overweight and obesity, covering key areas such as diagnosis and assessment, medical nutrition therapy, exercise prescription, pharmacological intervention, and psychological support. It is intended to provide a scientific and standardized approach to weight management across the adult population, aiming to curb the rising prevalence of obesity, mitigate complications associated with abnormal body weight, and improve nutritional status and overall quality of life.

We report a family with multiple endocrine neoplasia type 1(MEN1), in which the proband presented with primary amenorrhea and was diagnosed with both a pituitary prolactinoma and an ACTH-secreting adenoma. Genetic testing identified a heterozygous MEN1 gene c. 1449_1476del mutation in the proband, as well as in six additional family members, who exhibited variable clinical phenotypes. Following initial transsphenoidal pituitary surgery, the proband's symptoms and biochemical abnormalities persisted, with elevated ACTH and cortisol levels. Functional imaging using [ 68Ga]-DOTA-TATE PET/CT confirmed residual pituitary tumor tissue, and a second surgery resulted in biochemical remission.

Mineralocorticoid receptor(MR) overactivation plays an important role in the development and progression of diabetic kidney disease(DKD) by mediating pro-inflammatory and pro-fibrotic processes, making it a key therapeutic target for DKD. Finerenone, a third-generation, highly selective, novel nonsteroidal mineralocorticoid receptor antagonist(MRA), mitigates MR overactivation through anti-inflammatory and anti-fibrotic effects and by improving the immune-inflammatory environment. This significantly reduces cardiovascular and renal composite endpoints in patients with type 2 diabetes mellitus(T2DM) and chronic kidney disease(CKD), and improve cardiorenal outcomes. Based on its novel molecular structure, Finerenone exhibits a lower incidence of adverse effects compared to the previous MRAs. This article elucidates the molecular structure and pathophysiological role of MR, and explores the molecular mechanisms through which finerenone provides cardiorenal benefits. It also discusses the advantages and safety of finerenone compared to first- and second-generation MRAs from a molecular structure perspective, providing evidence for its clinical application.

To evaluate the correlation of the serum uric acid and free fatty acid (FFA) levels in Shandong coastal residents. To investigate the correlation between serum uric acid and FFA based on 3860 individuals who have been long staying in Qingdao, Yantai, Weihai, Rizhao with a randomized, stratified cluster sampling method. According to FFA quartile, subjects were divided into four groups: group Q1 of 908, group Q21016, group Q3958, and group Q4978 cases. The prevalence of hyperuricemia and serum uric acid levels increased with the increasing FFA quartile. Compared with Q1, Q2, and Q3 groups, the prevalence of hyperuricemia in Q4 group and the increase of serum uric acid were statistically significant(P<0. 05). And in the group Q4, hyperuricemia prevalence is twice as the group A. According to the serum uric acid level, subjects were divided into the normal uric acid group(n=3331) and the hyperuricemia group ( n = 529). In the hyperuricemia group, their systolic blood pressure, diastolic blood pressure, waist circumference, hip circumference, triglycerides, total cholesterol, low density lipoprotein-cholesterol (LDL-C), glucose, uric acid, FFA, body mass index etc. were significantly higher than those of the normal uric acid group (all P<0. 01), while the high density lipoprotein-cholesterol ( HDL-C), cystatin, glomerular filtration rate (eGFR) are significantly lower than those of the normal uric acid group( all P<0. 01). Serum uric acid levels are positively correlated with systolic and diastolic blood pressures, waist and hip circumferences, triglycerides, total cholesterol, LDL-C, FFA, blood glucose, body mass index (all P<0. 01); and negatively correlated with eGFR (P<0. 01). Multiple regression analysis showed that systolic blood pressure, FFA, total cholesterol, triglycerides, LDL-C, blood glucose, body mass index, eGFR were factors influencing serum uric acid independently. Multivariate binary logistic regression analysis showed that systolic blood pressure, waist circumference, total cholesterol, blood glucose, and FFA are independent risk factors to predict hyperuricemia onset while eGFR is a protective factor. Serum uric acid level is closely related to the free fatty acid, and FFA seems to be involved in the development and progression of hyperuricemia.

Objective To investigate the relationship of pancreatic β-cell function and insulin resistance with microalbuminuria in a cross -sectional study of patients with type 2 diabetes.Methods A total of 524 partici-pants with type 2 diabetes were recruited in this cross -sectional study.All subjects'height,weight,waist circumfer-ence and blood pressure were measured.Venous blood samples were drawn to measure fasting plasma glucose (FPG), fasting lipids,glycated hemoglobin A1c (HbA1c),fasting C -peptide (FPC).24h -urine was collected to measure urinary albumin excretion rate (UAER).Homeostasis model assessment of pancreatic β-cell function (HOMA -B) and insulin resistance (HOMA -IR)were estimated using fasting plasma C -peptide.According to HOMA -B quar-tile,the subjects were divided into four groups,including q1 -q4.According to HOMA -IR,the subjects were also divided into four groups,including Q1 -Q4.We assessed the crude associations across quartiles of these data with demographic and clinical parameters using a nonparametric test for trend across ordered groups (trend using Stata software).Multivariable logistic regression analysis was performed to assess the relationships of pancreatic β-cell function and insulin resistance with microalbuminuria in patients with type 2 diabetes.Results Trend test showed that UAER gradually reduced with increase of HOMA -B.The UAER values in subjects with q1,q2,q3 and q4 were 8.92(5.53 -28.65),8.55(5.52 -20.95),7.57(4.79 -19.83)and 7.84(5.23 -14.38)μg/min,respectively, and the trend was statistically significant(z =-2.1,P <0.05 ).With HOMA -IR increasing,UAER gradually increased.The UAER values in subjects with Q1,Q2,Q3 and Q4 were 6.73(4.85 -16.52),8.61 (5.2 -20.37), 8.31(4.88 -27.04),8.75(6.03 -25.21)μg/min,respectively,and the trend was also statistically significant(z =2.41,P <0.05).Multivariable logistic regression analysis showed that subjects with the highest quartile of HOMA -B had lower possibility of microalbuminuria than patients with the lowest quartile of HOMA -B (adjusted OR q4 vs. q1 =0.39,95% CI:0.20 -0.76,Wald =7.59,P =0.006).Subjects with the highest quartile of HOMA -IR had higher risk of microalbuminuria than those with the lowest quartile of HOMA -IR (adjusted OR Q4 vs.Q1 =2.00, 95% CI:1.08 -3.72,Wald =4.84,P =0.028).Conclusion Insulin resistance is associated with an increased prevalence of microalbuminuria in type 2 diabetes,while improved pancreatic β-cell function is linked to decreased rates of microalbuminuria for those patients.

Type 1 diabetes is the main type of diabetes mellitus among children and adolescents and the incidence has steadily increased worldwide in the past 20 years,so more and more people pay attention to the pediatric type 1 diabetes.This article reviews the worldwide research progresses of epidemiology,treatment and management of type 1 diabetes.By comparing the research progresses home and abroad,we can know the gaps home and abroad better,so as to indicate potential paths for future research in China.