Archives of Endocrinology Metabolism最新文献

Thermal ablation (TA) encompasses various options such as radiofrequency ablation (RFA), microwave ablation (MWA), laser ablation (LA), and high-intensity focused ultrasound (HIFU). The fundamental principle of these techniques involves generating heat to induce coagulative necrosis of the nodules. The rising incidence of thyroid nodules, most of which are benign, has highlighted the importance of minimally invasive methods that effectively control symptoms, address cosmetic concerns, and achieve volume reduction. The potential complications associated with surgical interventions have driven the widespread adoption of TA modalities, now used not only for symptomatic benign thyroid nodules (BTN), including autonomously functioning thyroid nodules (AFTN), but also for low-risk papillary thyroid microcarcinoma (PTMC). The evidence presented in this consensus has demonstrated the comparable effectiveness of TA to surgery for BTN in terms of volume reduction percentage (VRP), resolution of symptoms, and cosmetic concerns. Similarly, TA could be considered a suitable option for treating AFTN when surgery or radioactive iodine (RAI) is contraindicated, or when patients decline either of these options, offering a comparable effectiveness profile to RAI in terms of normalizing thyroid-stimulating hormone levels. For PTMC, TA may serve as an alternative for patients at high surgical risk or those who decline surgery, showing comparable outcomes to surgery in terms of local recurrence and lymph node metastasis. Additionally, TA exhibits a superior safety profile compared to surgery or RAI, characterized by reduced complications, preservation of thyroid function, and shorter hospitalization durations. While evidence on cost-effectiveness in Latin America remains limited, studies conducted in other countries support the implementation of TA as a first-line treatment option for BTN. The lack of economic assessment specific to AFTN complicates its consideration as a primary treatment choice; however, the effectiveness and safety profile suggest that the widespread adoption of TA as a first-line therapy could be considered for carefully selected patients diagnosed with AFTN or PTMC. The Surgical Affairs Committee of the Latin American Thyroid Society conducted a comprehensive review of TA as a primary treatment modality for benign, autonomously functioning, and malignant thyroid nodules to ensure its appropriate utilization in the field.

Objective: Genetic abnormalities in ion channels that regulate the depolarization of adrenal glomerular cell plasma membranes have been identified as a cause of primary aldosteronism (PA) due to aldosterone-producing adenoma (APA). This study aimed to evaluate somatic variants in the KCNJ5, CACNA1D, CLCN2, ATP1A1, ATP2B3, GNAQ, GNA11, and CTNNB1 genes, assess the genotype-phenotype correlation, and analyze the outcomes in patients with APA from a heterogenic ethnic population.

Subjects and methods: Clinical, biochemical, and molecular data were obtained from 32 patients.

Results: Pathogenic variants (PVs) were identified in 43.7% (14/32) of the patients. PVs occurred in 31.2% (10/32) of the KCNJ5 gene: p.Leu168Arg (15.6%), p.Gly151Arg (9.3%), p.Glu145Gln (3.2%), and p.Gly151_Tyr152del (3.2%). In the CLCN2 gene, two PVs (6.25%), p.Pro48Arg and p.Ala195Thr, were identified; the latter was found in association with p.Glu145Gln in the KCNJ5 gene within the same APA. Additionally, two PVs were found in ATPase genes: p.Leu104Arg in ATP1A1 (3.2%) and p.Leu425_Val426del in ATP2B3 (3.2%). No PVs were identified in the other examined genes. Patients with KCNJ5 PVs were predominantly female (90% vs. 45.5%; p = 0.01), had an earlier age of PA diagnosis (38 vs. 54 years; p = 0.04), and exhibited fewer electrocardiogram abnormalities (20% vs. 59%; p = 0.04). Patients with PVs across all studied genes also showed an earlier age at PA diagnosis (p = 0.02). The Primary Aldosteronism Surgical Outcome score revealed that 37.5% of patients met clinical/biochemical cure criteria, 12.5% showed partial improvement in both, while 50% achieved complete biochemical but not clinical remission. Patients carrying PVs had a higher rate of complete clinical and biochemical cure (66.7% vs. 33.3%; p = 0.05).

Conclusion: Identifying PVs in this study enhances our understanding of the genetic landscape in Brazilian patients with primary aldosteronism.

Objective: It is well established that serum levels of TSH receptor antibodies (TRAb) rise after radioiodine (131I) therapy for Graves' disease (GD). However, it remains unclear whether these post-therapy autoantibodies are predominantly TSH receptorstimulating immunoglobulins (TSI) and how their persistence might affect treatment outcomes.

Subjects and methods: In this prospective study, 39 patients with GD underwent 131I therapy. Serum TRAb (measured by competitive electrochemiluminescence, ECLIA) and TSI (measured by an IMMULITE® 2000/2000 XPi TSI assay) were evaluated at baseline and at 1, 2, 3, 6, 9, and 12 months post-therapy. More than 7% increase from baseline was considered a significant rise.

Results: At diagnosis, all 39 patients tested positive for TRAb, while 38 tested positive for TSI. Both TRAb and TSI levels rose significantly between months 2 and 4 post-131I, followed by a progressive decline by months 9 to 12. TSI increased in 72% of patients; of these, 93% showed a gradual decrease but remained higher than baseline in 58% at 12 months. Patients with thyroid eye disease (TED), longer disease duration, or higher baseline TSI more frequently exhibited persistent elevation at one year. Despite the persistence of TSI, all patients achieved control of thyrotoxicosis (euthyroid or hypothyroid states).

Conclusion: Radioiodine therapy leads to an increase in TSI, which can remain elevated for up to 12 months in more than half of GD patients. These findings suggest potential benefits of measuring TSI for guiding management decisions, particularly regarding antithyroid drug discontinuation and pregnancy planning.

Measurement of serum prolactin levels is a common practice in clinical settings, particularly among women of reproductive age. In cases of hyperprolactinemia, identifying macroprolactinemia can help prevent unnecessary investigation and inappropriate treatments. This Position Statement, jointly prepared by the Brazilian Society of Endocrinology and Metabolism (SBEM) and the Brazilian Society of Clinical Pathology/Laboratory Medicine (SBPC/ML), addresses several aspects of macroprolactinemia relevant to clinical practice - including concepts, definitions, epidemiological aspects, measurement techniques, and the role of screening - and discusses some clinical dilemmas.

Objective: The relationship between liver health and glycaemic control in elderly patients with diabetes remains poorly understood. In this study, the value of liver elastography in identifying associations with poor glycaemic control among elderly patients with type 2 diabetes mellitus was investigated.

Subjects and methods: In total, 90 elderly patients (aged ≥ 60 years) with type 2 diabetes mellitus were enrolled in this prospective observational study. All participants underwent liver elastography using FibroScan® and continuous glucose monitoring (CGM). Liver stiffness measurements (LSMs) and the controlled attenuation parameter (CAP) were obtained. Glycaemic control was assessed through multiple parameters, including the time in range (TIR), time above range (TAR), glycaemic variability, and mean glucose levels. Poor glycaemic control was defined as a TIR < 70%. The mean age of the participants was 64.0 ± 10.5 years, with 65.6% being female. The mean liver stiffness was 6.1 ± 7.8 kPa, and the mean CAP was 266.0 ± 54.7 dB/m.

Results: Patients with higher liver stiffness (>8.0 kPa) had a significantly lower TIR (68.7% versus 83.5%, p<0.001) than those with normal liver stiffness (<5.5 kPa). LSMs were strongly negatively correlated with the TIR (r = -0.42, p < 0.001) and positively correlated with the mean glucose level (r = 0.38, p < 0.001). Multivariate analysis revealed that increased liver stiffness was independently associated with poor glycaemic control (adjusted OR = 1.28, 95% CI: 1.14-1.44; p < 0.001).

Conclusion: ROC analysis revealed an exploratory LSM cut-off value of 6.8 kPa for association with poor glycaemic control (AUC = 0.76; sensitivity = 71.2%; specificity = 78.9%). LSMs via transient elastography are independently associated with poor glycaemic control in elderly patients with type 2 diabetes. An LSM threshold of 6.8 kPa may help identify patients who are more likely to present with poor glycaemic control.

Objective: To evaluate and to compare machine learning models for predicting hypertension in patients with diabetes using routine clinical variables.

Methods: Using Behavioral Risk Factor Surveillance System data, models were trained on 35,346 individuals with seven variables ("HighChol", "BMI", "Smoker", "PhysActivity", "Sex", and "Age") to predict the occurrence of hypertension in patients with diabetes ("HTNinDM"). Models included neural network, gradient boosting, random forest, Adaptive Boosting, and logistic regression. Performance was assessed by area under the curve, accuracy, precision, and recall, and F1 score using cross-validation. Class imbalance was addressed via diverse models. Feature importance was evaluated by permutation importance of a random forest model.

Results: The neural network model achieved the best performance with area under the curve 0.689, accuracy 76.5%, precision 76.3%, recall 98.8%. Gradient boosting models performed similarly. Age and body mass index were the top predictors.

Conclusion: Machine learning models show potential for identifying patients with diabetes at high hypertension risk using routine clinical data. A neural network model achieved excellent predictive performance.

Objective: Graves' disease (GD), an autoimmune disorder causing hyperthyroidism, is often diagnosed using 99mTc scintigraphy. While increased thyroidal 99mTc uptake with homogenous distribution is typical, atypical patterns (normal or heterogeneous) occur. This study aimed to investigate the determinants of these atypical uptake patterns in GD.

Subjects and methods: Re-trospective records review identified 238 GD patients diagnosed between January 2022 and December 2024. Normal 99mTc uptake (0.4%-3%) and heterogeneous distribution patterns were defined based on scintigraphy. Relevant clinical and biochemical data were compared between typical and atypical pattern groups.

Results: Normal 99mTc uptake was observed in 25/238 (10.5%). Compared to increased uptake, it was associated with lower FT4, T3 levels (p < 0.01) and TRAb levels (p = 0.01) with similar prevalence of heterogeneous distribution (p > 0.05). Compared to homogeneous uptake, heterogeneous uptake subgroup (n = 30/238, 12.6%) had similar TRAb/T3 levels (p > 0.05) with lower FT4 (p = 0.04); and were more likely to have goiter grade > 1 (p < 0.05). Age, gender, smoking and thyroid eye disease were not associated with either atypical uptake pattern. In regression analysis, lower TRAb was associated with normal uptake (OR 0.798, 95% CI 0.660-0.965, p = 0.02), and goitre grade > 1 was associated with heterogeneous uptake (OR 4.34, 95% CI 1.25-15.03, p = 0.01).

Conclusion: Atypical 99mTc uptake patterns were observed in a notable subset of GD. Normal uptake subgroup may reflect a mild evolving disease stage with lower TRAb, while heterogeneous uptake was primarily linked to increased thyroid size. These findings highlight the importance of integrating clinical and biochemical data when interpreting thyroid scintigraphy in suspected GD.

Objective: Extranodal extension (ENE) is acknowledged as a significant prognostic factor associated with recurrence, distant metastasis, and reduced disease-specific survival in patients with papillary thyroid carcinoma. However, the impact of the extent of extranodal extension on the clinical outcomes of these patients remains insufficiently understood. This study aimed to estimate the risk of detecting distant metastasis in patients with varying degrees of ENE according to a novel stratification method.

Materials and methods: This retrospective study utilizes medical records and slide reviews of papillary thyroid cancer patients who underwent therapeutic neck dissection. A new stratification system was developed, based on the circumferential rupture of the lymph node capsule. It is defined as Focal ENE when less than one-third of the lymph node capsule is ruptured and as Diffuse ENE when one-third or more of the capsule is involved.

Results: Eighty-nine patients participated in the study, with 19% diagnosed with distant metastasis within a 96-month follow-up period. The presence of diffuse extranodal extension was associated with a risk approximately six times higher than in patients without ENE for the detection of distant metastasis at 96 months, after adjustment for age group (HR = 6.41; 95% CI: 1.7-23.8; p = 0.006).

Conclusion: A greater extent of extranodal extension is linked to a heightened risk of detecting distant metastasis and should thus be considered in the therapeutic decision-making process.