Endocrine Research最新文献

This study investigates the genetic and clinical characteristics of hyperlipidemia in patients from Eastern Anatolia. A retrospective cohort of 205 patients (aged 3-71) underwent next-generation sequencing (NGS) to identify genetic variations in lipid metabolism genes (LDLR, APOB and LPL), which were then correlated with the patients' clinical data. Patients with obesity or chronic diseases were excluded. The LDLR c.1729T > C variant was detected in 12 patients. Severe hypertriglyceridemia was observed in patients with homozygous variants in GPIHBP1 and LPL. Elevated triglyceride levels have also been observed to be associated with variants such as APOA5 c.70C > T, thus highlighting their role in lipid metabolism. Phenotypic variation was observed based on the type of genetic variant and its zygosity. The study emphasizes the intricate relationship between lipid metabolism and genetic abnormalities, underscoring potential ramifications for personalized treatment strategies. The report calls for the incorporation of genetic screening into clinical practice with a view to improving diagnostics and outcomes, and it emphasizes the necessity for further research to achieve a full understanding of variants of uncertain significance (VUS) and their associated phenotypes.

Objectives: The pathogenesis of polycystic ovary syndrome (PCOS) was complex, and the incident PCOS involves both genetic and environmental factors. However, no study focused on the synergistic effect between interleukin 10 (IL-10) gene and obesity on PCOS risk yet. This study aimed to evaluate the correlation between IL-10 gene single nucleotide polymorphisms (SNPs) and PCOS susceptibility and impact of the interaction between IL-10 gene and obesity on PCOS risk.

Methods: A total of 540 participants consisted of 180 PCOS patients and 360 normal controls were enrolled in this study. Logistic regression model was employed to evaluate the association between IL-10 gene polymorphisms and PCOS susceptibility, odds ratios (ORs) and 95% confidence interval (CI) were calculated. Generalized multifactor dimensionality reduction (GMDR) was employed to screen the IL-10 gene-obesity interaction.

Results: Logistic regression also indicated that rs1800896-G allele was statistically significant correlated with increased risk of PCOS, the ORs (rs (95%CI) for AG, GG and AG+GG genotype was 1.75 (1.21-2.33), 1.93 (1.17-2.72) and 1.79 (1.26-2.35), respectively. However, no significant difference was observed on the distribution of genotypes and alleles within rs1800890, rs1800871, rs1800872 between PCOS patients and normal controls (all p values > 0.05). GMDR model found a significant interaction combination (two-locus model with p = 0.001) between rs1800896 and obesity, the cross-validation consistency was 10/10 and the prediction error was 0.641. Compared with those non-obese participants with rs1800896-AA genotype, OR (95% CI) was 1.62 (1.14-2.12), 1.46 (1.02-1.95) for non-obese participants with rs1800896-AG or GG genotype, obese participants with rs1800896-AA genotype, and obese participants with rs1800896-AG or GG genotype have the highest PCOS risk, OR (95% CI) = 3.58 (1.81-5.41), after covariates adjusting.

Conclusions: We found that rs1800896-G allele, gene-environment interaction between rs1800896 and obesity were all correlated with increased PCOS risk.

Background: This Mendelian Randomization (MR) study investigates the causal relationships between mitochondrial proteins and Diabetic polyneuropathy (DPN).

Methods: Using a two-sample MR design with data from FINNGEN (1048 DPN cases, 374,434 controls) and 63 mitochondrial proteins from GWAS datasets. Analyses used the Inverse Variance Weighted (IVW) method, MR-Egger regression, and weighted medians, with extensive sensitivity tests for robustness.

Results: Elevated COA3 levels (OR = 0.5774, 95% CI: 0.4466-0.7465, p < 0.01) decreased DPN risk, while elevated NFU1 (OR: 1.3992, 95% CI: 1.0935-1.7904, p = 0.0075) and SARS2 (OR: 1.3660, 95% CI: 1.0651-1.7520, p = 0.0140) increased risk.

Conclusion: COA3, NFU1, and SARS2 significantly affect DPN risk, with COA3 lowering and NFU1 and SARS2 increasing risk. These findings highlight potential targets for DPN prevention and treatment, suggesting the importance of mitochondrial proteins in DPN pathogenesis, and providing new insights for future therapeutic strategies to effectively combat this debilitating condition.

Objective: The present research was done to explore the possible association of TSHR (rs1991517, rs12050077), DIO1 (rs2235544), FOXE1 (rs925489), and CAPZB (rs10917469) gene variants in hypothyroidism patients.

Design & methods: This study included 600 participants with hypothyroidism and a control. Genomic DNA was extracted from whole blood and amplified using polymerase chain reaction (PCR).

Results: The Homozygous genotype (CC) of SNP rs1991517 of the TSHR gene exhibited a significant association with hypothyroidism by 2-fold more risk of hypothyroidism. In comparison, in the combined genotype model, similar results were obtained with 2-fold more risk of hypothyroidism. In the rs12050077 variant of the TSHR gene, statistically significant results were observed with a 2-fold higher risk of hypothyroidism by homozygous mutant (AA), while a significant association with decreased risk of hypothyroidism was observed in heterozygous (GA). Its joint genotype model (GA+AA) showed a substantial decrease in the risk and played a protective role. In the DIO1 gene, a heterozygous mutant genotype (AC) of variant rs2235544, a significant association with 3-fold increased the risk of hypothyroidism was observed, and homozygous mutant genotype (CC) of the same SNP rs2235544 also showed significant association by decreasing the risk of hypothyroidism. In SNP rs925489 of gene FOXE1, heterozygous (CT) showed a significant association with hypothyroidism. joint genotype model of rs925489 showed a crucial significant association with hypothyroidism. In rs10917469 SNP of CAPZB gene in heterozygous mutant (AG), a significant association was observed but with a decreased risk of hypothyroidism. The joint genotype model of rs10917469 shows a significant association with hypothyroidism.

Conclusions: Association study of TSHR polymorphism (rs1991517, rs12050077), DIO1 polymorphism rs2235544, FOXE1 polymorphism rs925489, and CAPZB polymorphism rs10917469 with hypothyroidism showed that rs2235544 of DIO1 gene are associated with increasing risk of hypothyroidism.

Purpose: To assess the utility of blood cell-derived parameters in differentiating subacute thyroiditis (SAT) from Graves' disease (GD) and their association with recurrence and the development of permanent hypothyroidism in the patients with SAT.

Methods: The study involved 414 patients with SAT, 415 patients with GD, and 92 healthy controls. Pre-treatment hematological parameters were retrospectively compared, especially in cases where differentiation is challenging, including painless SAT, acute phase reactants negative SAT, and TSI, TRAB (Thyroid Stimulating Immunoglobulin, TSH-receptor-antibodies) negative GD. Factors influencing recurrence and permanent hypothyroidism were also analyzed in SAT group.

Results: When compared with the GD group, ratios of neutrophil/lymphocyte (NLR), platelet/lymphocyte (PLR), systemic inflammatory response index (SIRI), systemic immune inflammatory index (SII) and pan immune inflammation value (PIV) were significantly higher, while large unstained cell percentage (LUC%) and the ratios of eosinophil/monocyte (EMR), eosinophil/lymphocyte (ELR), eosinophil/neutrophil (ENR), eosinophil/platelet (EPR), mean platelet volume/neutrophil (MPV/NEU), MPV/monocyte and MPV/platelets were significantly lower in the SAT group. SII demonstrated the highest diagnostic value, with an optimal cutoff of 652,784. No significant association was observed between these parameters and recurrence or permanent hypothyroidism.

Conclusion: Differentiation between SAT and GD can be reliably achieved using blood cell-derived parameters, and that these markers are also applicable in groups where differentiation is challenging. To the best of our knowledge, this is the first study to investigate the LUC%, ELR, ENR, EPR, MPV/NEU, and MPV/monocyte ratios and revealed that they are significantly different between these two diseases.

Isolated adrenocorticotropic hormone (ACTH) deficiency, a rare condition associated with immune checkpoint inhibitors, can manifest with symptoms such as fatigue, poor appetite, dizziness, hypotension, and hyponatremia. We present a case of a 52-year-old Chinese woman with stage IB lung adenocarcinoma who developed these symptoms after 8 months of treatment with sintilimab. Laboratory tests revealed hyponatremia, low ACTH and cortisol levels, and thyrotoxicosis. Imaging studies showed a Rathke's cleft cyst in the pituitary gland but normal adrenal glands. The patient was diagnosed with isolated ACTH deficiency and thyroid dysfunction and prescribed prednisone as replacement therapy, which improved her symptoms despite persistently low ACTH levels. This case highlights the importance of early diagnosis and treatment of immune checkpoint inhibitor-related endocrine disorders and provides insights into their management to enhance clinical practice and outcomes.

Menopause is an important transition in a women's life that has been associated with a worsening cardiometabolic risk profile. Diabetes is a well-known risk factor for cardiovascular disease risk in women. Recent studies have improved the understanding of the hormonal and metabolic changes that occur during menopause, which have provided an opportunity to intervene with preventive efforts. Despite this, menopause's role and its direct (independent) relationship with cardiovascular risk factors, such as diabetes, remain largely unknown. This review highlights the inter-relationships between menopause, vasomotor symptoms, and menopausal hormone therapy with the risk of developing diabetes and outlines further knowledge gaps.

Introduction: This study assessed the potential of lncRNA LINC01184 in predicting PTC progression and prognosis and its regulatory mechanism in PTC cellular processes, aiming to explore a novel biomarker for PTC.

Methods: The study enrolled 111 PTC patients and collected paired tissue samples. Using PCR, the expression of LINC01184 was analyzed, and its association with patients' clinicopathological features and prognosis was evaluated. The regulatory effects of LINC01184 on cell growth and metastasis were assessed by CCK8 and Transwell assays.

Results: LINC01184 was significantly downregulated in PTC, which was closely correlated with poor differentiation, advanced TNM stage, the occurrence of lymph node metastasis, and poor overall survival. In PTC cells, LINC01184 negatively regulated miR-296-3p, and its overexpression suppressed cell growth and metastasis of PTC, which was reversed by overexpressing miR-296-3p.

Conclusion: Downregulated LINC01184 served as a biomarker for PTC. Overexpressing LINC01184 suppressed PTC cell progression via suppressing miR-296-3p.

Introduction: There are few studies investigating oxidative stress in hyperprolactinemia. We aimed to analyze the associations between hyperprolactinemia, its treatment, and oxidative stress parameters.

Methods: Twenty patients who had hyperprolactinemia secondary to a prolactin-secreting pituitary tumor, and 20 age- and BMI-matched healthy controls were prospectively included. Patients were studied at recruitment and six months post-treatment. Markers indicating protein oxidation and antioxidant system were analyzed.

Results: Serum prolactin level in the patient group (13 female, 7 male) was significantly higher than controls. Myeloperoxidase (MPO) activity and advanced oxidation protein product (AOPP) levels were comparable between the groups, while pyrrolized protein, and protein carbonyl compound (PCC) levels were significantly higher, and thiol levels lower in the patients at baseline. A decrease in prolactin levels along with improvements in estradiol (in females) and testosterone (in males) levels were observed following treatment. After treatment of hyperprolactinemia a significant decrease in AOPP, PCC, pyrrolized protein, and an increase in thiol levels were observed. MPO activity remained stable.

Discussion: In addition to reproductive dysfunctions and altered sex hormones, hyperprolactinemia is associated with oxidative stress, which improves four to six months after cabergoline treatment.

Objective: This study aims to investigate the clinical and ultrasonographic features of thyroid swelling following fine-needle aspiration biopsy (FNAB), and to distinguish between symptomatic and asymptomatic forms.Methods: We retrospectively reviewed 872 patients who underwent thyroid ultrasonography before and after FNAB between January and November 2024. Patients showing new hypoechoic cracking after FNAB were identified. Clinical symptoms, degree of thyroid swelling, and outcomes were evaluated.Results: Hypoechoic cracking developed in 18 patients (2.1%), appearing immediately in 17 and at 4 hours in one. Three patients (17%) experienced symptoms such as pain or compression, all with thyroid swelling exceeding 1.8-fold the original size. The remaining 15 patients were asymptomatic, with swelling less than 1.5-fold. No clinical characteristics were significantly associated with the development of symptoms. All patients recovered spontaneously; two symptomatic cases received steroid treatment.Conclusion: Post-FNAB thyroid swelling can be classified into two entities: typical, symptomatic acute transient thyroid swelling (ATTS) and a newly proposed asymptomatic form, acute transient thyroid cracking (ATTC). Recognizing ATTC as a mild, self-limiting condition is important for avoiding unnecessary treatment and alleviating patient concern.