Endocrine Practice最新文献

Objective: Familial hypercholesterolemia (FH), characterized by elevated serum cholesterol concentrations from birth onwards, is inherited in an autosomal dominant manner and is classified into heterozygous FH (HeFH) and homozygous FH.

Methods: This review provides an overview of existing data on FH, with a focus on diagnostic, screening, and treatment approaches.

Results: FH is consistently underdiagnosed due to the absence of clinical symptoms during childhood in the most common heterozygous form. If left untreated, persistent exposure to markedly elevated low-density lipoprotein-cholesterol levels confers a significantly increased risk for premature atherosclerotic cardiovascular disease development. Because symptoms are typically absent in HeFH, the "gold standard" diagnostic method is genetic testing, which, however, is not widely accessible. The implementation of screening strategies is also important for early detection. Dietary and lifestyle interventions are the first-line therapeutic approach for HeFH, often combined with pharmacotherapy, predominantly using statins. For homozygous FH, dietary and lifestyle modifications along with aggressive pharmacotherapy should be initiated upon diagnosis. High-intensity statins in combination with ezetimibe or proprotein convertase subtilisin/kexin type 9 inhibitors are usually required for optimal lipid control.

Conclusion: Given its rapidly progressive course and the risk of developing unfavorable cardiovascular outcomes early in the life course, timely and effective diagnosis and management of FH are crucial.

Objective: Tirzepatide shows benefits on cardiovascular (CV) parameters and major adverse cardiovascular events (MACE) in clinical trials, but real-world data, especially for type 2 diabetes (T2D), are limited. This systematic review and meta-analysis seeks to address this gap.

Methods: Multiple databases and registries were searched for real-world observational studies involving individuals with T2D receiving tirzepatide. The co-primary outcomes were acute coronary syndrome (ACS), heart failure (HF), sudden cardiac death, and stroke. RevMan Web was used to conduct meta-analyses employing random-effects models to calculate hazard ratios (HRs) with 95% confidence intervals (CIs).

Results: Eight retrospective cohort studies (N = 118 252) were included. Compared to the control group, tirzepatide reduced risks of ACS (HR 0.74 [0.62-0.89], P = .001), HF (HR 0.65 [0.53-0.82], P = .0002), stroke (HR 0.71 [0.62-0.81], P < .00001), MACE (HR 0.72 [0.60-0.86], P = .0004), and all-cause mortality (HR 0.49 [0.37-0.67], P < .00001). However, the risk of sudden cardiac death was similar between groups. The risk of composite outcomes of all-cause mortality plus CV outcomes was also lower with tirzepatide (HR 0.65 [0.54-0.79], P < .0001). Compared to semaglutide, tirzepatide had lower risks of stroke and MACE but similar risks for ACS, HF, sudden cardiac death, all-cause mortality, and composite outcomes.

Conclusions: Tirzepatide offers the potential to reduce the risks of ACS, HF, stroke, MACE, and death in real-world patients with T2D, suggesting CV benefits. Larger trials are needed to confirm long-term CV effects and define its role in T2D and CV management.

Objectives: Despite recommendations by major diabetes organizations, medical nutrition therapy (MNT) in pediatric type 1 diabetes (T1D) remains underutilized. Suboptimal prandial practices and limited engagement in nutritional counseling with the diabetes care team may impact health outcomes in these youth. This study aimed to understand patient and caregiver experiences with and barriers to MNT utilization.

Methods: Utilizing the socioecological framework and the phenomenological research design augmented by grounded theory methods, we conducted semi-structured interviews with caregivers of patients with T1D < 18 years and youth with T1D 12-17 years with T1D duration ≥1 year. Emergent themes were used to generate a theoretical model of the relationship between the family unit encompassing the child with T1D and suboptimal MNT utilization.

Results: We recruited 9 caregivers and 9 patients. Qualitative analysis yielded important themes highlighting challenges impacting MNT utilization across 5 domains: individual, shared child/caregiver-specific, interpersonal, institutional, and community/societal. The central theme was recognition of the importance of MNT in pediatric T1D management juxtaposed with barriers to its implementation. Factors mediating this paradoxical relationship included the impact of diabetes technologies on prandial practices, balance between caregiver involvement and emerging patient independence, emphasis on normalcy, attempts to match child's way of eating with that of others, school-based considerations, and cultural/sociodemographic influences.

Conclusions: This study generated informative insights on the perceptions and experiences of patients and caregivers regarding barriers to MNT implementation in pediatric T1D. Efforts to enhance MNT appreciation and utilization in this population by targeting the identified barriers through patient-/family-centered strategies are crucial.

Objective: The prevalence of hypercortisolism in hypertension and its association with cardiometabolic risk in hypertensive patients remains unknown. This study investigates the prevalence of hypercortisolism and the relationship between cortisol secretion and cardiometabolic parameters in hypertensive patients.

Methods: In 106 nondiabetic and nonobese hypertensive patients (age 37-70 years; 53 females), cortisol levels after a 1 mg dexamethasone suppression test (F-1mgDST), carotid intima-media thickness (cIMT), blood pressure dipping pattern, carotid stenosis, fasting glucose (FG), and glycated hemoglobin were evaluated. Hypercortisolism was defined as F-1mgDST >1.8 μg/dL (50 nmol/L).

Results: Hypercortisolism was identified in 8 patients (7.5%). Compared with those without, patients with hypercortisolism were older (56.9 vs 63.0 years, P = .04), had higher FG (95.3 vs 103.8 mg/dL, P = .03), glycated hemoglobin (5.4% vs 5.6%, P = .001), more frequently altered blood pressure dipping pattern (22.0% vs 62.5%, P = .026), pathologic cIMT (>1 mm; 7% vs 66.7%, P = .001), and frequently required ≥2 antihypertensive drugs (14.3% vs 50.0%, P = .027). Pathologic cIMT levels were associated with F-1mgDST levels (odds ratio 14.00, 95% CI 2.70-72.48, P < .002) after adjusting for age, sex, body mass index, smoking status, and presence of impaired FG/impaired glucose tolerance. The optimal F-1mgDST cut-off for predicting increased cIMT was identified as 1.14 μg/dL (31.4 nmol/L). This F-1mgDST threshold predicted the risk of cIMT >1 mm (odds ratio 15.57, 95% CI 2.88-84.29, P = .001), after adjustment for age, sex, body mass index, smoking, and presence of impaired glucose metabolism.

Conclusion: Hypercortisolism was detected in 7.5% of nondiabetic and nonobese hypertensive patients and was associated with early vascular damage. Hypercortisolism may worsen the cardiometabolic risk in hypertension.

Currently, the total 25-hydroxyvitamin D (25(OH)D) is recognized as the indicator of vitamin D status that is used to define vitamin D sufficiency. Vitamin D binding protein (DBP) is the major carrier for circulating vitamin D and plays an important role in regulating circulating total and free vitamin D metabolites. Since the concentration of DBP and its affinity to vitamin D varies by different physiologic and clinical conditions, measuring total 25(OH)D may not accurately reflect functional vitamin D status. In addition, DBP is a potential prognostic indicator of clinical outcomes since it has other important functions beyond that as vitamin D carrier, including its role in actin scavenging after tissue injury and inflammation and immune modulation. It has been proposed that circulating DBP is altered in some clinical conditions, which affects the levels of total and free vitamin D metabolites and can explain clinical outcomes. Furthermore, in some clinical situations, total 25(OH)D levels are altered and knowing whether DBP is also changed may have diagnostic and therapeutic implications. The goal of this review is to assess clinical conditions altering DBP concentrations and then total 25(OH)D levels and their effects on prognosis. We suggest using the free 25(OH)D level as a better marker for vitamin D status in certain clinical conditions.

Objectives: Young adults with diabetes face unique challenges in care. We aimed to assess the feasibility of the Diabetes Collaborative Care for Young Adults (DCCYA), a multidisciplinary care model tailored to young adults.

Methods: A nonrandomized, two-arm mixed-methods prospective comparison of the DCCYA and usual care (UC) for patients aged 18-30 years old with type 1 or 2 diabetes. The primary outcome was feasibility, measured by DCCYA follow-up visit retention rate compared to UC. Secondary outcomes included change in patient-reported outcome measures and hemoglobin A1c and qualitative reports regarding the diabetes care experience. Data were collected from health records, patient surveys, and semistructured interviews.

Results: Mean follow-up visit retention rates of DCCYA (n = 16, 62%) and UC arms (n = 29, 52%) at 9 months were comparable (P = .4), though the DCCYA arm had more scheduled follow-up visits (3.9 ± 1.5 vs 2.4 ± 1.3, P = .002). There was no significant change in diabetes-related distress, depressed mood, anxiety, disordered eating, or hemoglobin A1c within or between groups. DCCYA participants reported a positive experience and desire for diabetes-specific insurance guidance, education, and mental health support.

Conclusion: The DCCYA serves as an example of a feasible, pragmatic model of care that addresses the unique needs of young adults with diabetes.

Objective: The long-term safety of antidiabetic medications, particularly their potential association with bladder cancer (BC), remains a concern in type 2 diabetes mellitus (T2DM) management.

Methods: We conducted a systematic review and meta-analysis of randomized controlled trials comparing antidiabetic medications to placebo in T2DM patients, focusing on BC outcomes. Database searched included PubMed, Embase (via OVID), Web of Science (Core Collection), Cochrane Library, and ClinicalTrials.gov up to 20 June 2025. A random-effects model was used to calculate pooled odds ratio (OR) and 95% confidence interval (CI). Heterogeneity was assessed using the I² statistic. Subgroup analyses were conducted by drug class ((dipeptidyl peptidase-4 inhibitors (DPP-4i), glucagon-like peptide-1 receptor agonists (GLP-1Ras), sodium-glucose cotransporter-2 inhibitors (SGLT-2i), thiazolidinedione). Publication bias was assessed via funnel plot.

Results: Overall, antidiabetic medications were not significantly associated with an increased or decreased risk of BC (pooled OR = 0.90, 95% CI: 0.67-1.20; I² = 0.0%). Subgroup analyses by drug class also showed no statistically significant associations: DPP-4i (OR = 1.12, 95% CI: 0.67-1.85; I² = 0.0%), GLP-1Ras (OR = 0.72, 95% CI: 0.42-1.22; I² = 0.0%), and SGLT-2i (OR = 0.79, 95% CI: 0.50-1.24; I² = 0.0%). For thiazolidinediones, only one study (pioglitazone) reported an OR of 2.37 (95% CI: 0.91-6.17), which was not statistically significant. Funnel plots suggested no obvious publication bias.

Conclusions: This meta-analysis suggests that antidiabetic medications, including DPP-4i, GLP-1Ras, and SGLT-2i, are not significantly associated with BC risk in T2DM patients. These findings support the long-term safety profile of these medications.

Objective: Cushing syndrome (CS) is characterized by excess cortisol and distinct facial features, including moon face and facial fat accumulation. However, facial fat distribution differences between CS and common obesity remain unclear. This study used 3-dimensional photogrammetry to quantify facial characteristics influenced by cortisol.

Methods: Patients with CS and controls were recruited at Peking Union Medical College Hospital from 2022 to 2024. Enrolled patients underwent standardized protocols for 3-dimensional facial imaging and clinical data collection. The images were subsequently processed, annotated, and subjected to measurement analysis. Distances, angles, contours, and area parameters were measured and calculated. Differences in facial features between patients with CS and obesity controls were compared. Clinical features related to CS facial features were analyzed. A support vector machine-based diagnostic model was developed using distinct facial features.

Results: A total of 42 patients with CS and 42 controls were enrolled (age, sex, and body mass index matched). Measurement values of CS facial parameters revealed significant cheek and lower face fat accumulation compared with common obesity, with more pronounced lower face accumulation. Fat accumulation in CS occurred in both horizontal and depth dimensions. Associated factors included age, sex, body mass index, waist circumference, disease duration, cortisol and adrenocorticotropic hormone levels, and etiologic subtype. The support vector machine diagnostic model showed accuracy of 91.7% and area under the curve of 0.96.

Conclusion: Compared with common obesity, hypercortisolism induces a redistribution of facial fat toward the mid and lower face regions, resulting in the characteristic appearance. This study of excessive endogenous cortisol secretion offers new clinical and facial morphologic perspectives on CS.

Objective: Metformin is a widely used, safe, and effective antidiabetic agent; however, its use in solid organ transplant (SOT) recipients has been limited. We aimed to evaluate the safety and cardiovascular, renal, and metabolic outcomes associated with metformin use in a large, real-world cohort of SOT recipients living with diabetes.

Methods: We conducted a retrospective matched-cohort study of adult SOT recipients (kidney, liver, lung, and heart) with pre-existing type 2 diabetes using data from a large health care organization. Metformin users (≥2 prescriptions post-transplant) were 1:1 matched to nonusers by age, sex, and organ type. Primary outcomes included major adverse cardiovascular events, heart failure, all-cause mortality, and severe renal dysfunction (estimated glomerular filtration rate ≤15 mL/min/1.73 m²). Secondary outcomes included metabolic changes and safety endpoints.

Results: We included 938 matched patients (66% kidney, 14% liver, 16% lung, and 4% heart). Metformin use was associated with a lower risk of major adverse cardiovascular events (adjusted hazard ratio [HR] 0.77, 95% CI 0.61-0.98, P = .031) and all-cause mortality (HR 0.52, 95% CI 0.38-0.71, P < .001). In kidney recipients, metformin was associated with reduced risk of graft dysfunction (estimated glomerular filtration rate <15 mL/min/1.73 m², initiation of dialysis, kidney biopsy, or rejection; HR 0.59, 95% CI 0.45-0.77, P < .001). Glycemic and lipid parameters improved significantly in metformin users. No increased risk of lactic acidosis was observed.

Conclusion: In SOT recipients living with diabetes, metformin use was associated with improved survival, cardiovascular and renal outcomes, and favorable metabolic effects without compromising safety. These findings support the cautious use of metformin in selected transplant recipients. Prospective studies are warranted.

Objectives: The pyramidal lobe (PL), a normal yet highly variable anatomical structure of the thyroid gland. Current literature suggests that 10% to 30% of patients undergoing total thyroidectomy (TT) exhibit residual PL tissue, which may compromise the completeness of cancer resection, hinder postoperative radioiodine therapy, and impact serum thyroglobulin levels. Notably, major guidelines from the American Thyroid Association, European Society for Medical Oncology, National Comprehensive Cancer Network lack specific recommendations regarding PL management. This study evaluates its role and necessity in TT, particularly in papillary thyroid carcinoma (PTC).

Methods: A retrospective review of prospectively maintained data from 445 PTC patients who underwent TT at our institution (January 2022-April 2024) was conducted. Intraoperative PL localization was recorded, and specimens were assessed for PL presence and histology. Surgical complications, thyroid function and radioiodine-131 treatment were monitored during follow-up.

Results: Pathology confirmed PL in 242 of 445 patients (54.04%), with intraoperative identification accuracy at 95.30% (242/254). The remaining 12 resected specimens exclusively comprised muscular tissue. Occult PTC was detected in 21 PLs (4.72% of the total cohort; 8.68% of those with PL), all part of multifocal tumors. PL-associated PTC was an independent risk factor for prelaryngeal lymph node metastasis [OR (95% CI): 3.332 (1.230-9.025), P = .018]. PL removal facilitated prelaryngeal lymph node dissection without increasing surgical complications.

Conclusions: PL resection in TT removes occult PTC and optimizes prelaryngeal lymph node dissection without increasing surgical complications. This highlights the value of routinely excising the pyramidal lobe during total thyroidectomy to ensure thorough removal of residual cancer.