Endocrine最新文献

Background: Diabetes mellitus (DM) is a chronic metabolic disorder associated with severe complications, including cataracts, a leading cause of blindness. Diabetic patients are at a higher risk of developing cataracts earlier and experiencing poorer surgical outcomes. While cataract surgery is effective, limited research has explored its impact on diabetic patients. This study aims to analyze post-cataract surgery outcomes in diabetics using a meta-analysis approach, addressing gaps in existing research and evaluating the influence of advancements in diabetes management on surgical recovery.

Method: This systematic review and meta-analysis followed PRISMA guidelines to assess the impact of diabetes on cataract surgery outcomes. Quality assessment employed the ROBINS-I tool, ROB2, and Newcastle-Ottawa Scale. Statistical synthesis was performed via STATA 18 and Review Manager 5.4.1. The outcome measures include the incidence of cataract development, post-surgical visual acuity, proportion of good vision outcomes, central retina thickness, and post-surgical complications.

Results: Nine hundred eighty-six articles were identified, and 30 met the inclusion criteria. Key risk factors for cataract in people with diabetes were high HbA1c, longer diabetes duration, and retinopathy. Our pooled effect size indicated that non-diabetics had significantly better BCVA post-surgical outcomes than people with diabetes, logMAR 0.07 (SMD 0.07, 95% CI: 0.01, 0.12; p = 0.02). Cataract surgery among non-diabetic patients was significantly associated with good visual acuity compared to poor visual outcomes (OR 42.09, 95% CI: 13.92, 127.33; p < 0.00001). Conversely, central retinal thickness (CRT) was comparable in diabetic and non-diabetic patients (MD -0.18 µm, 95% CI: -3.44 µm, 3.07 µm; p = 0.91). The incidence of macular edema among patients after cataract surgery was 49% (0.49, 95% CI: 0.23, 74; p = 0.01). Diabetic patients were significantly associated with pigment dispersion than non-diabetics post-cataract surgery (OR 2.91, 95% CI: 1.15, 7.31; p = 0.02), striate keratopathy (OR 1.92 95% CI: 1.16, 3.17; p = 0.01), and posterior capsular opacity (OR 2.92 95% CI: 1.80, 4.72; p < 0.00001).

Conclusion: Cataract surgery among diabetic patients was associated with higher risks of complications like macular edema, striate keratopathy, and posterior capsular opacity. Additionally, non-diabetic patients were associated with better BCVA and good visual outcomes compared to diabetic patients post-cataract surgery.

Purpose: Female sexual dysfunction (FSD) is a common but underexplored complication in women with type 2 diabetes (T2D). This longitudinal study assessed the prevalence, incidence, and remission of FSD in women with newly diagnosed, uncomplicated T2D, and identified associated predictors.

Methods: We enrolled 388 women (mean follow-up: 60.5 ± 20.4 months) from a larger cohort of 937 newly diagnosed T2D patients. FSD was assessed using the Female Sexual Function Index (FSFI), with a cut-off score < 26.55 defining FSD. Baseline and follow-up evaluations included anthropometric, metabolic, hormonal, and therapeutic parameters, including participation in therapeutic patient education (TPE). Multivariate logistic regression was used to identify predictors of FSD prevalence, incidence, and remission.

Results: At baseline, FSD prevalence was 42.8%. During follow-up, 30.2% of initially unaffected women developed FSD (6.0% annual incidence), while 28.9% of women with baseline FSD achieved remission (5.8% annual remission). Baseline FSD was independently associated with age > 50 years and BMI > 30 kg/m². FSD incidence was inversely associated with total testosterone > 28.5 ng/dL and TPE. FSD remission was predicted by TPE participation and a ≥ 3-point BMI reduction. At follow-up, FSD prevalence rose to 47.7%.

Conclusion: FSD is common in early-stage T2D, with identifiable predictors of both its onset and remission. Age, obesity, testosterone levels, and TPE significantly influence FSD dynamics. These findings support early FSD screening and integration of sexual health into comprehensive diabetes care.

Purpose: This research, drawing on genealogical information gleaned over 40 years, aimed to clarify to what extent RET germline mutations causing multiple endocrine neoplasia 2A have been inherited.

Methods: Geospatial inheritance of 30 different RET germline mutations was explored by mapping gene carriers to the postal code area of residence and year of birth of the earliest affected common ancestor.

Results: The geospatial analyses revealed 13 single-family clusters among 30 different RET mutations, which involved 3 of 8 high-risk mutations and 10 of 16 intermediate-risk mutations but none of the 6 low-risk mutations. Of these 30 RET mutations, at least 15 RET mutations had been transmitted to offspring for more than 100 years. The oldest familial RET mutations dated back to the second half of the 19th century: to at least 1876 (p.Cys611Phe/c.1832G>T), 1880 (p.Cys634Arg/c.1900T>C), 1895 (p.Cys634Phe/c.1901G>T), 1897 (p.Ser891Ala/c.2671T>G), and 1899 (p.Cys618Phe/c.1853G>T). Another set of 10 RET mutations extended to the early 20th century: to at least 1902 (p.Glu768Asp/c.2304G>C), 1903 (p.Cys634Tyr/c.1901G>A), 1904 (p.Leu790Phe/c.2370G>T), 1905 (p.Cys618Ser/c.1852T>A), 1908 (p.Val804Met/c.2410G>A), 1910 (p.Cys611Phe/c.1832_1833delinsTT), 1914 (p.Cys609Gly/c.1825T>G, p.Cys634Gly/c.1900T>G, and p.Leu790Phe/c.2370G>C), and 1919 (p.Cys620Phe/c.1859G>T). The remaining 15 RET mutations could be traced back no farther than to between 1924 (p.Cys611Tyr/c.1853G>A) and 1966 (p.Cys618Arg (c.1852T>C) but exhibited geographical patterns suggestive of, or consistent with, consecutive migration outside of the area of familial origin.

Conclusion: The longstanding transmission of the MEN2A trait across multiple generations, often over centuries, requires meticulous identification of all RET mutation carriers who stand to gain tremendously from earlier, hence more limited, surgical interventions.

Introduction: In a previous cohort of patients with new-onset of Graves' Disease (GD) during 2021, a "postvaccine early-onset (PoVEO)" after anti-COVID-19 vaccination emerged as a new and frequent nosological entity occurring in approximately one third of patients. Similar cohorts have also been reported with GD after anti-COVID vaccines, but to date there are no available data on long-term clinical outcomes.

Methods: This is a single-center retrospective study evaluating the 24-month clinical course of patients with early-onset (<4 weeks) GD after anti-COVID vaccination (PoVEO) compared to non-PoVEO patients. Biochemical tests, therapies used and follow-up visits were scheduled according to current guidelines, clinicians' experience and patients' needs.

Results: As previously described, 64 patients were observed in 2021 and 20 (31.2%) had PoVEO. Individuals with PoVEO were characterized by distinctive features such as older age, a higher prevalence of male sex, and a better initial biochemical response. Eleven individuals were followed at other Centers (2 with PoVEO and 9 without) and were lost to follow-up. During the two-year follow-up, of the 53 individuals, 7 (13%) underwent definitive surgical or radioactive-iodine therapy (3 PoVEO and 4 non-PoVEO p = 0.67), and 30 (57%) presented disease remission with medical therapy alone. Excluding those who underwent definitive treatments, remission with medical therapy alone was observed in 13/15 (87%) individuals with PoVEO form and 17/31 (55%) non-PoVEO (p = 0.048).

Conclusion: In this retrospective study of a cohort of individuals with the PoVEO form of GD, we found a more favourable clinical course, likely linked to transience of the triggering events. Despite these findings, individuals presenting with GD after SARS-CoV-2 vaccination should undergo an active surveillance program with repeat thyroid function testing.

Purpose: Agranulocytosis is a rare but serious adverse effect associated with antithyroid drug (ATD) therapy for hyperthyroidism. The relative risk between methimazole (MMI) and propylthiouracil (PTU), and the potential dose-dependent effect of MMI remain unclear. To evaluate the incidence and relative risk of agranulocytosis associated with MMI and PTU, and to determine whether higher MMI doses are linked to increased risk.

Methods: We conducted a systematic review and meta-analysis of clinical studies reporting agranulocytosis in patients treated with MMI or PTU. A comprehensive search was performed in MEDLINE, Cochrane Library, and LILACS up to March 2025. Studies were selected based on predefined inclusion criteria. Risk of bias was assessed using RoB 2.0 and ROBINS-I tools. Meta-analyses were performed using random-effects models. Publication bias was evaluated using funnel plots, Egger's test, and the trim-and-fill method. The protocol was registered in PROSPERO (CRD42024548791).

Results: Thirteen studies were included in the meta-analysis, comprising 313 cases of agranulocytosis. No significant difference in risk was found between MMI and PTU (OR = 0.87; 95% CI: 0.40-1.88; I² = 74.1%). In the dose-comparison analysis, patients receiving <30 mg/day of MMI had a significantly lower risk of agranulocytosis compared to those receiving ≥30 mg/day (OR = 0.34; 95% CI: 0.22-0.54; I² = 0%). No publication bias was detected. Sixteen additional studies were included in the qualitative synthesis but excluded from quantitative analysis due to methodological limitations. A lower incidence of agranulocytosis was observed in randomized controlled trials compared to retrospective studies.

Conclusion: This meta-analysis found no significant difference in agranulocytosis risk between MMI and PTU. However, higher MMI doses (≥30 mg/day) were associated with an increased risk. These findings support the use of the lowest effective MMI dose and emphasize the importance of standardized reporting and methodological rigor in studies assessing the safety of ATD.

Purpose: Klinefelter syndrome (XXY) has a wide range of presentations and health consequences. The aim of this systematic review was to identify potential core outcomes reported in males with XXY.

Methods: Systematic searches of PubMed, Science Direct, and Cochrane were performed to source studies. The inclusion criteria were studies involving males with KS with any intervention, comparison, or outcome, with separate searches for studies reporting on children <16 years of age and for adults ≥16 years of age.

Results: For children <16 years old, 56 studies met the eligibility criteria. Thirty-seven (66%) studies reported anthropometric measurements and physical characteristics. Behavioural, cognitive developmental and psychiatric outcomes were also commonly reported (27, 48%) as were biochemical results in 27 (48%) studies. Other outcomes included presence of co-morbidities (16, 29%) and fertility outcomes (10, 18%). In the studies focusing on individuals ≥16 years of age, 183 studies met the eligibility criteria. Outcomes relating to biochemistry, physical characteristics, fertility and occurrence of co-morbidities were reported in 118 (64%), 89 (49%) 65 (36%) and 62 (34%) studies respectively. Quality of life was reported least frequently in only 2 (4%) paediatric studies and 5 (3%) of adult studies.

Conclusion: The present study highlights the variety of outcomes studied in boys and men with KS. These results can support the development of age-specific core outcome sets for clinical research to promote homogeneity and to aid standardised data collection.

Background: Continuous glucose monitoring (CGM) has improved diabetes management, yet not all patients benefit equally. We previously developed a predictive calculator using clinical and socioeconomic variables to estimate the likelihood of achieving optimal control after CGM initiation. This study prospectively validated the calculator in a real-world cohort.

Methods: A single-center prospective study included 102 adults with type 1 or pancreatic diabetes using multiple daily insulin injections, followed for three months. Optimal control was defined as time in range (TIR, 70-180 mg/dL) > 70% and time below range (TBR, <70 mg/dL) < 4%. Model performance was assessed using ROC analysis and correlation tests.

Results: Of 102 participants, 85 completed follow-up (median age: 53.6 years; 48% women; median diabetes duration: 12.9 years; baseline HbA1c: 7.6%). Thirty-three (38.8%) achieved optimal control. The calculator showed moderate discrimination (AUC = 0.639) and significant correlations with TIR (p = 0.230, p = 0.023) and time in tight range (TITR, 70-140 mg/dL) (p = 0.271, p = 0.019). Overall accuracy was 61.9%, lower than in the original cohort. Smoking predicted non-completion (p = 0.038).

Conclusions: The calculator shows moderate accuracy in predicting glycemic control and TITR after CGM initiation. CGM adherence remains a challenge, warranting further study in publicly funded healthcare settings.

Purpose: To evaluate the potential role of pre-treatment clinical activity score (CAS) and extraocular muscle (EOM) signal intensity ratio (SIR) values on orbital MRI in predicting the steroid response in patients with moderate-to-severe active Graves' orbitopathy (GO).

Methods: The data of 51 patients with moderate to severe GO (CAS ≥ 3) were retrospectively evaluated. The patients were categorized into two groups: steroid-resistant (n = 25) and steroid-responsive (n = 26). Demographic and clinical characteristics, CAS, VISA (vision, inflammation, strabismus, appearance), laboratory data and orbital MRI measurements were compared. Two standardized MRI sequences were utilized for analysis: T2-weighted short-tau inversion-recovery (T2w-STIR) and contrast-enhanced T1-weighted fat-suppressed (T1w-CE) imaging. Predictors of steroid resistance were identified through multivariate logistic regression analysis, and ROC curve was performed to determine predictive performance and optimal cut-off values.

Results: Pre-treatment CAS (5.05 ± 1.07 vs 4.00 ± 0.93, p = 0.002) and T2w-STIR SIR (4.77 ± 0.93 vs 3.95 ± 1.32, p = 0.031) were both significantly higher in the steroid-resistant group. Higher pretreatment CAS (OR 2.380, p = 0.001) and T2w-STIR SIR (OR 1.862, p = 0.040) predicted steroid resistance. ROC analysis demonstrated good discriminative performance for CAS (AUC = 0.786); with a cut-off value > 4 yielding 71.4% sensitivity and 68.2% specificity. T2w-STIR SIR with a threshold value > 3.6 provided high sensitivity (94.4%) but limited specificity (37.5%), indicating moderate overall accuracy (AUC = 0.673).

Conclusion: Pre-treatment CAS and T2w-STIR SIR values may serve as potential predictors of steroid resistance in moderate-to-severe active GO. Early identification of high-risk patients may facilitate consideration of alternative treatments such as immunosuppressive agents or radiotherapy. Larger scale prospective studies are required to validate optimal T2w-STIR SIR cut-off values and the role of imaging biomarkers in risk stratification.