Endocrine Practice最新文献

Objective: This meta-analysis aimed to evaluate the success rate and safety of adrenal venous sampling (AVS) via the antecubital approach and to compare these outcomes with the femoral approach.

Materials and methods: A systematic search was performed in PubMed, Embase, Cochrane Library, Web of Science, and Wanfang Data from inception to May 1, 2025. The primary outcome was the success rate of right and left adrenal vein cannulation. Secondary outcomes included procedure-related complications, fluoroscopy time, and contrast agent volume. Comparative outcomes were reported as odds ratios (ORs) and weighted mean differences (WMDs).

Results: A total of 11 studies involving 2,332 patients with primary aldosteronism undergoing AVS were included. The antecubital approach for AVS showed no statistically significant differences compared with the femoral approach in right adrenal vein cannulation success rate (antecubital single-arm pooled estimate: 91.9%, 95% CI: 85.26%-95.70%; comparative analysis: OR 1.43, 95% CI: 0.23-9.04), left adrenal vein cannulation success rate (95.35%, 95% CI: 94.34%-96.19%; OR 1.44, 95% CI: 0.63-3.28), procedure-related complications (0.36%, 95% CI: 0.07%-0.79%; OR 0.51, 95% CI: 0.17-1.60), fluoroscopy time (7.64 minutes, 95% CI: 6.12-9.16; WMD 0.62 minutes, 95% CI: -0.75 to 1.99), or contrast agent volume (19.37 mL, 95% CI: 15.9-22.83; WMD 0.19 mL, 95% CI: -0.57 to 0.96).

Conclusions: Antecubital AVS demonstrated acceptable success rates and safety, particularly in moderate- to high-volume centers, without clear inferiority to the femoral approach.

Objectives: Idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are rare disorders of deficient gonadotropin-releasing hormone migration, secretion, and/or action causing delayed or absent puberty and infertility. Variants in >50 genes have been reported as causative, but many lack functional validation, potentially overestimating pathogenicity. We hypothesized that the number of true causative variants, when classified by the American College of Medical Genetics and Genomics (ACMG) guidelines, is fewer than reported.

Methods: We reviewed literature for variants in the 27 OMIM-established causative genes for IHH/KS. Variants were identified through database and literature searches. Publications were screened for variants explicitly reported by authors as causative, or equivalent terminology. The reported variants were reclassified using VarSome and ClinVar applying 2015 ACMG criteria. Publications were categorized as pre- (≤2015) or post-guidelines (>2015) for comparative analysis.

Results: 273 publications met inclusion, yielding 933 variants. VarSome classified 444/933 (47.6%) as Pathogenic/Likely Pathogenic (P/LP), 249 (26.7%) as Variants of Uncertain Significance (VUS), and 240 (25.7%) as Benign/Likely Benign (B/LB). ClinVar classified 171/933 (18.3%) as P/LP, 104 (11.1%) as VUS, 68 (7.3%) as B/LB, 85 (9.1%) as conflicting, 13 (1.4%) as risk factor, and 492 (52.7%) as lacking entries. In VarSome, 37.2% of P/LP and 84.3% of VUS were missense.

Conclusions: Just under half of the reported variants were reclassified as P/LP by VarSome, whereas one-fourth were VUS and one-fourth B/LB. ClinVar called <20% of these P/LP. These findings highlight overestimation of pathogenicity and the need for standardized variant interpretation using supportive evidence consistent with ACMG guidelines.

Objectives: Although the efficacy of sodium-glucose cotransporter-2 (SGLT2) inhibitors has been investigated broadly in type 1 diabetes (T1D), evidence regarding their combined use with insulin pumps remains limited. Therefore, we summarized the efficacy and safety of SGLT2 inhibitors as add-on therapy to insulin pumps in T1D.

Methods: Randomized controlled trials on SGLT2 inhibitors combined with insulin pump therapy published up to September 18, 2025, were searched on Scopus, PubMed, Cochrane Library, Web of Science, and ClinicalTrials.gov. Data on continuous glucose monitoring metrics, glycated hemoglobin (HbA1c), and diabetic ketoacidosis (DKA) were extracted. Pooled analyses were conducted using mean differences (MDs) or odds ratios (ORs) with 95% confidence intervals.

Results: Seventeen trials involving 2,916 participants were included. SGLT2 inhibitors significantly increased time-in-range (TIR) compared with insulin pump therapy alone (MD 11.89%, [9.38 to 14.40]; I² = 43.1%, p < 0.001). Low- and high-dose SGLT2 inhibitors caused a comparable increase in the TIR (11.89% and 12.22%, respectively). HbA1c decreased significantly (MD -0.30%, [-0.41 to -0.20]); however, SGLT2 inhibitors increased DKA risk (OR 3.33 [2.10 to 5.27]; number needed to harm = 27). Subgroup analysis by dose showed that low- and high-dose groups have similar DKA risk (OR 2.90 and OR 3.66, respectively).

Conclusions: SGLT2 inhibitors combined with insulin pump therapy improve glycemic outcomes in T1D but elevate DKA risk, underscoring the need for individualized treatment, careful dosing, and vigilant monitoring.

Objectives: To assess public knowledge of type 1 diabetes (T1D), awareness of the newly introduced Italian national T1D pediatric screening program, and willingness to participate in screening among survey respondents.

Methods: By a nationwide cross-sectional online survey demographic data and T1D knowledge, awareness and attitudes toward the screening program were collected. A composite T1D knowledge score (range -1 to +1) was calculated using a right-minus-wrongs method.

Results: A total of 695 respondents participated. Although 93.4% had heard of diabetes, specific knowledge of T1D was limited, with a median T1D knowledge score of 0.45. Significantly higher scores (p-value<0.05) were observed among females, residents of pilot regions, healthcare workers, and individuals who knew someone with diabetes. Awareness of the screening program is modest, with only 35.8% of participants adequately informed, with higher percentage in pilot regions (54.3%). Despite limited awareness, willingness to screen was high, with 93.4% of respondents and 95.4% of parents of eligible children open to screening. Higher knowledge scores were associated with greater willingness (p-value=0.037).

Conclusions: Results highlight strong public readiness for T1D screening, but significant gaps in knowledge and awareness. Targeted education and communication are needed to ensure informed participation and support successful nationwide implementation of the program.

Objectives: Cardiovascular diseases (CVDs) are the leading cause of mortality worldwide, with metabolic risk factors (MRFs) playing a predominant role. This is of particular concern for adolescents and young adults (AYAs), as it can lead to lifelong cardiovascular risk. However, a comprehensive assessment of this burden is lacking.

Methods: Using data from the Global Burden of Disease Study 2021, we estimated the mortality and disability-adjusted life years (DALYs) caused by CVD-MRFs among individuals aged 15-39 years from 1990 to 2021. Analyses were stratified by age, sex, region, and Socio-demographic Index (SDI). Joinpoint regression analyzed trends, and a Bayesian age-period-cohort model projected future burden to 2050.

Results: In 2021, CVD-MRFs caused 213,000 deaths and 12.9 million DALYs globally among AYAs. While age-standardized rates declined modestly, absolute deaths and DALYs increased by 29.1% and 30.4% since 1990. The burden was highest in middle and low-middle SDI regions and was twice as high in males as in females. The 20-24-year age group was the only subgroup with a rising mortality trend. High body-mass index (BMI) and fasting plasma glucose (FPG) were the most rapidly growing MRFs, though high systolic blood pressure and low-density lipoprotein cholesterol remained the leading risks. Ischemic heart disease was the predominant condition. Projections indicate a persistent absolute burden through 2050.

Conclusions: The AYAs face a growing absolute burden of CVD-MRFs, driven notably by high BMI and FPG. Urgent, targeted prevention strategies are essential, particularly for males, young adults aged 20-24 years, and populations in middle and low-middle SDI regions.

Background: Advanced fibrosis is associated with cirrhosis, cancer, and mortality in patients with metabolic dysfunction-associated steatotic liver disease (MASLD). Since MASLD is underdiagnosed in primary care, and diabetes mellitus type 2 (T2DM) is strongly associated with MASLD, the 2024 ADA guidelines recommend screening for advanced fibrosis in patients with T2DM and prediabetes using the Fibrosis-4 Index (FIB-4). We aimed to determine the proportion of primary care patients with T2DM and prediabetes who had FIB-4s at-risk for advanced fibrosis and required confirmatory testing.

Methods: This cross-sectional study evaluated primary care patients with T2DM or prediabetes and a FIB-4 score between 2022 and 2024. The outcome of interest was a FIB-4 score in need of confirmatory fibrosis risk assessment. Univariate analyses were used to describe the cohort. Logistic regression models evaluated the association between T2DM and a FIB-4 score at indeterminate-risk or greater for advanced fibrosis.

Results: Of 8,366 patients with T2DM and prediabetes, 2,064 (25%) had FIB-4s in need of confirmatory risk assessment. The expanded FIB-4 fibrosis screening for T2DM and prediabetes increased the number of patients needing confirmatory fibrosis risk assessment by 9.1 times compared to those with diagnoses of MASLD (n=228). Further, patients with T2DM were not more likely to have an indeterminate-risk or greater FIB-4 (OR: 0.86; 95%CI: 0.77-0.96) compared to those with prediabetes in the fully adjusted model.

Conclusions: Expanded screening for advanced liver fibrosis would substantially increase the number of patients who need confirmatory testing for liver fibrosis, increasing cost and straining access.

The number of people with diabetes using insulin pumps has increased through the years. Automated insulin delivery (AID) systems, which integrate pump and continuous glucose monitoring with an algorithm to deliver insulin, have enhanced the adoption of insulin pumps. We present a step-by-step resource for health care professionals, from novices to more advanced practitioners, for reviewing the features and settings of AIDs and interpreting the download reports, including considerations such as the kind of insulin used in the pump, and the nonjudgmental approach in evaluating patient behaviors.

Objectives: Recent clinical guidelines recommend screening for fear of hypoglycemia (FOH) as it is a known barrier in type 1 diabetes (T1D) management. Thus, this study proposes a one-item screening question to identify people living with T1D for whom FOH is a barrier to achieving glycemic targets and well-being.

Methods: Cross-sectional analysis using self-reported data from an online registry of people living with T1D. The one-item screening question "[Does] fear of hypoglycemia represent a barrier for you to achieve optimal blood sugar levels?" was validated by evaluating its association with glycemic outcomes (hemoglobin A1c [HbA1c]) and Hypoglycemia Fear Survey-II scores using regression models while adjusting for gender, hypoglycemia history, and hypoglycemia confidence.

Results: Among 1437 adults (mean age: 44.3 ± 15.1 years), 43% responded "yes" to the screening question (FOH + group). Participants in the FOH + group were more likely to self-identify as women, use medication to treat depression or anxiety, and report lower hypoglycemia confidence. The FOH + group had on average 0.48% [0.12, 0.83] higher HbA1c levels and were less likely to report reaching the recommended target HbA1c ≤ 7.0% (30% compared to 47%; P < .001). These associations remained significant even after adjusting for gender, hypoglycemia history, and hypoglycemia confidence. Hypoglycemia Fear Survey-II scores were significantly higher in the FOH + group (total score coefficient: 11.0 [9.1, 12.8]).

Conclusions: As FOH remains under-assessed clinically, a validated one-item screening question can facilitate targeted and individualized clinical discussions for efficient recommendations and therapeutic adjustments.