EndocrinePub Date : 2024-10-19DOI: 10.1007/s12020-024-04073-y
Iustin Daniel Toma, Dan Alexandru Niculescu, Simona Andreea Găloiu, Raluca Alexandra Trifănescu, Cătălina Poiană
{"title":"Comparative mortality in pituitary adenomas subtypes: a tertiary referral center study.","authors":"Iustin Daniel Toma, Dan Alexandru Niculescu, Simona Andreea Găloiu, Raluca Alexandra Trifănescu, Cătălina Poiană","doi":"10.1007/s12020-024-04073-y","DOIUrl":"https://doi.org/10.1007/s12020-024-04073-y","url":null,"abstract":"<p><strong>Purpose: </strong>Mortality in pituitary adenomas (PAs) has been extensively compared to general population. However, direct comparisons between PA subtypes are scarce. We aimed to compare mortality in various subtypes of PA (acromegaly, Cushing's disease (CD), macroprolactinomas and non-functioning pituitary macroadenomas (MacroNFPA)), within a single referral center.</p><p><strong>Methods: </strong>We retrospectively analyzed mortality and survival time in all 962 PAs admitted in our department between 2011 and 2023: acromegaly (n = 306), CD (n = 69), macroprolactinoma (n = 168) and MacroNFPA (n = 419).</p><p><strong>Results: </strong>Median follow-up was 10.2 (5.2, 15.2) years. The overall survival probability was 90.9% and 78.1% after 10 and 20 years respectively with age at diagnosis as the only significant predictor. There were no significant differences in survival probability between various PA subtypes in the whole cohort. In patients over 45 years of age at diagnosis there was a significant difference in survival probability between the four groups (p = 0.01) in the first 15 years of follow-up. In head-to-head comparisons CD had a significantly higher mortality risk than patients with acromegaly (HR 3.38 [CI 95% 1.07 to 10.60]) even after adjusting for age and sex.</p><p><strong>Conclusion: </strong>Patients diagnosed with CD after 45 years of age have a significantly lower survival probability than other PA subtypes in the first 15 years of follow-up. All other PA subtypes had a similar survival probability after adjusting for age and sex. Due to advances in medical treatment of hormone secreting tumors, mortality in patients with PAs might increasingly depend more on tumor mass than on hormonal hypersecretion.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The polar vessel sign: insights from CT imaging analysis in Asian Indian primary hyperparathyroidism.","authors":"Anima Sharma, Saba Samad Memon, Manjunath Goroshi, Shetteppa Goroshi, Virendra Patil, Padma Vikram Badhe, Hemangini Thakkar, Vijaya Sarathi, Aditya Phadte, Chethan Yami Channaiah, Manjiri Karlekar, Rohit Barnabas, Anurag Ranjan Lila, Tushar Bandgar","doi":"10.1007/s12020-024-04076-9","DOIUrl":"https://doi.org/10.1007/s12020-024-04076-9","url":null,"abstract":"<p><strong>Purpose: </strong>Data on the polar vessel sign (enlarged feeding vessel terminating in parathyroid lesions) on four-dimensional computed tomography (4D-CT) is limited. We performed a retrospective analysis to determine the prevalence, predictors, and adjunctive utility of polar vessel sign in pre-operative 4D-CT of patients with primary hyperparathyroidism (PHPT).</p><p><strong>Methods: </strong>One radiologist blinded to the patients' details reported the 4D-CT of eighty-four operated patients with histopathology-proven single-gland PHPT. Two protocols were used to obtain arterial-phase images: timed via bolus tracking (n = 41) or fixed at 20 s after contrast injection (n = 43).</p><p><strong>Results: </strong>Seventy-one patients were symptomatic for PHPT, with median serum calcium 12.1 mg/dL. On the arterial phase of 4D-CT, 88.1% of lesions had the polar vessel sign, including 7/9 asymptomatic patients, 6/6 parathyroid carcinomas, and 3/4 ectopic(1:mediastinum, 2:thyro-thymic ligament). Predictors of polar vessel sign were maximum lesion dimension (2.2 vs. 1.4 cm; P = 0.03), solid-cystic CT morphology (47.3% vs. none; P = 0.004), and bolus tracking-timed arterial phase (55.4% vs. none; P = 0.001). Of these, bolus tracking improved the polar vessel's visualization (100% vs. 76.7%; P = 0.001) independent of lesion dimension and solid-cystic morphology. The latter two predicted polar vessel sign in images obtained at a fixed interval (20 s). A significantly lower proportion of bolus tracking-timed scans had lesion percentage arterial enhancement (PAE) < 128.9% (2/41 vs. 9/43; P = 0.04). Even with suboptimal PAE, the polar vessel helped identify 9/11 lesions.</p><p><strong>Conclusion: </strong>The polar vessel sign demonstrated an additive role to PAE during CT reporting. Bolus tracking is valuable in optimizing vessel and tumor arterial enhancement and is easily incorporated into parathyroid 4D-CT protocol.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2024-10-18DOI: 10.1007/s12020-024-04080-z
Henrik Falhammar, Gundela Holmdahl, Helena Filipsson Nyström, Anna Nordenström, Kerstin Hagenfeldt, Agneta Nordenskjöld
{"title":"Women's response regarding timing of genital surgery in congenital adrenal hyperplasia.","authors":"Henrik Falhammar, Gundela Holmdahl, Helena Filipsson Nyström, Anna Nordenström, Kerstin Hagenfeldt, Agneta Nordenskjöld","doi":"10.1007/s12020-024-04080-z","DOIUrl":"https://doi.org/10.1007/s12020-024-04080-z","url":null,"abstract":"<p><strong>Purpose: </strong>To study what adult women with congenital adrenal hyperplasia (CAH) thought about the timing of genital surgery.</p><p><strong>Methods: </strong>As part of a larger follow-up study performed between the years 2002-2005 there were questionnaires concerning genital surgery, type of surgery, their thoughts about timing of genital surgery and experience of information about surgery. Early surgery was defined as ≤4 years of age and late ≥10 years. The medical and surgical files were reviewed.</p><p><strong>Results: </strong>62 women with CAH due to 21-hydroxylase deficiency, mean age 28 years (18-63) were included. The age at first genital surgery was 3 years (0-28 years) in the 52 patients (84%) who had had genital surgery, with 60% had early surgery (≤4 years) and 29% late (≥10 years). Almost half of the cohort had a positive experience of the information about surgery, a third had no opinion and a fifth had a negative experience. Of the women 39% thought that early surgery was good, while 19% thought it should be done during or after puberty and 42% had no opinion. Of those preferring early surgery 70% had early surgery themselves. Vaginal surgery was less common among those favoring early surgery. Age, phenotype, genotype, decade of surgery and experience of the information about surgery did not differ significantly between the three groups.</p><p><strong>Conclusion: </strong>Equal numbers of women had no opinion regarding age at surgery or preferred early surgery while 19% thought it would be preferred to have surgery during or after puberty.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2024-10-17DOI: 10.1007/s12020-024-04035-4
Yuenan Zheng, Jie Zhao, Yang Shi, Zhiqiang Gui, Chun Xu, Qingshu Wu, Zhihong Wang, Hao Zhang, Liang He
{"title":"Anxiety and depression in papillary thyroid cancer patients: a longitudinal study.","authors":"Yuenan Zheng, Jie Zhao, Yang Shi, Zhiqiang Gui, Chun Xu, Qingshu Wu, Zhihong Wang, Hao Zhang, Liang He","doi":"10.1007/s12020-024-04035-4","DOIUrl":"https://doi.org/10.1007/s12020-024-04035-4","url":null,"abstract":"<p><strong>Purpose: </strong>Researches indicate that patients with papillary thyroid cancer (PTC) are prone to experiencing anxiety and depression. However, lacking of large-scale, prospective studies thoroughly examine the trajectory of these emotional states. Therefore, this study aims to investigate changes in anxiety and depression levels in PTC patients before and after operation and assess the impact of gender and menopausal states on emotional well-being.</p><p><strong>Method: </strong>A prospective longitudinal study enrolled 320 PTC patients who completed the Self-Rating Anxiety Scale (SAS) and Self-Rating Depression Scale (SDS) at pre- and post-operation. Paired-sample T-tests and logistic regression analysis were used to evaluate emotional changes and identify influencing factors.</p><p><strong>Results: </strong>Anxiety and depression levels significantly increased (p = 0.028, p = 0.005) postoperatively, with incidence of 13.8% for anxiety and 26.9% for depression. Multivariate regression analysis showed that gender was a factor affecting depression (p = 0.041), and menopausal state significantly influenced emotions including anxiety and depression (p = 0.004, p = 0.031). Subgroup analysis showed that female patients exhibited higher levels of adverse emotions postoperatively compared to preoperatively (p = 0.003, p < 0.001). Postoperatively, female patients were more susceptible to anxiety and depression (p = 0.011, p = 0.029), and postmenopausal women were particularly at risk for depression (p = 0.017).</p><p><strong>Conclusions: </strong>The study highlights the importance of postoperative psychological care, particularly for female and postmenopausal patients. Larger sample sizes and longer follow-up periods are needed for a comprehensive understanding of psychological changes in PTC survivors.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Elevated circulating regenerating islet-derived protein 4 levels in patients with metabolic syndrome and related to its key components.","authors":"Tianjiao Shen, Yu Yang, Yerui Lai, Hongmin Zhang, Dongfang Liu, Cong Wang, Ling Li, Weiwei Xu, Ke Li, Shengbing Li, Mengliu Yang","doi":"10.1007/s12020-024-04056-z","DOIUrl":"https://doi.org/10.1007/s12020-024-04056-z","url":null,"abstract":"<p><strong>Purpose: </strong>Regenerating islet-derived protein 4 (REG4) is a secretory protein that belongs to the C-type lectin superfamily. This study aims to explore the diagnostic value of REG4 as a potential biomarker for metabolic syndrome by analyzing the correlation between serum REG4 levels and metabolic syndrome.</p><p><strong>Methods: </strong>Serum REG4 levels were measured using enzyme-linked immunosorbent assay (ELISA). Bioinformatics analysis was conducted to investigate REG4-related genes and metabolic signaling pathways.</p><p><strong>Results: </strong>Serum REG4 levels were significantly elevated in MetS patients compared to healthy controls (439.7 vs. 422.6 ng/L, p < 0.01). In addition, circulating REG4 levels showed a positive correlation with AUGg, HbA1c, VAI, BMI, WHR, TG, TC, LDL-C, while being inversely correlated with HDL-C in the study population. Serum REG4 levels were positively correlated with MetS score. Multiple linear regression analysis identified HOMA-IR and LDL-C as independent factors affecting serum REG4 concentration. Interventional studies have shown that OGTT can significantly increase serum REG4 levels in healthy individuals, but significantly reduce REG4 levels in MetS patients. Bioinformatics analysis suggested that REG4 is linked to several metabolism-related genes and is enriched in various metabolism-related signaling pathways.</p><p><strong>Conclusion: </strong>REG4 may serve as a valuable biomarker and potential treatment target for insulin resistance (IR) and MetS.</p><p><strong>Clinical trial registration number: </strong>ChiCTR2000032878.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2024-10-16DOI: 10.1007/s12020-024-04069-8
Madhumanti Barman, Nelli Giribabu, Naguib Salleh
{"title":"Roles of thyroid and leptin hormones and their crosstalk in male reproductive functions: an updated review.","authors":"Madhumanti Barman, Nelli Giribabu, Naguib Salleh","doi":"10.1007/s12020-024-04069-8","DOIUrl":"https://doi.org/10.1007/s12020-024-04069-8","url":null,"abstract":"<p><strong>Purpose: </strong>This review aims to provide updated information regarding the role of thyroid and leptin hormones and their crosstalk in affecting the male reproductive function in hypothyroid and obesity conditions.</p><p><strong>Method: </strong>A wide literature search was made using online search engines on published articles using keywords including thyroid hormone, hypothyroidism, leptin hormone, hyperleptinemia, obesity, the relationship between thyroid and leptin hormones and male reproduction, and hypothyroidism, obesity, and male reproduction.</p><p><strong>Results: </strong>All information pertaining thyroid and leptin hormone effects on male reproduction, hypothyroidism, hyperleptinemia, and obesity effect on male fertility as well as the related molecular mechanisms are obtained.</p><p><strong>Conclusion: </strong>Thyroid and leptin hormones individually play a significant role in male reproduction. Alterations of these hormones' levels could adversely affect the male reproductive functions. PI3K/AKT signaling was found to be the major signaling pathway involved in mediating the effect of both hormones on male reproduction. Impaired crosstalk between the two hormones may occur in hypothyroidism with obesity which would contribute towards male reproductive dysfunction.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2024-10-16DOI: 10.1007/s12020-024-04071-0
Beng Leong Lim, Wei Feng Lee, Yan Ee Lynette Chung, Berlin Lee, Kee Vooi Loo
{"title":"Subcutaneous fast-acting insulin analogues ± long-acting insulin vs IV insulin infusion in DKA: updated meta-analysis of randomised trials.","authors":"Beng Leong Lim, Wei Feng Lee, Yan Ee Lynette Chung, Berlin Lee, Kee Vooi Loo","doi":"10.1007/s12020-024-04071-0","DOIUrl":"https://doi.org/10.1007/s12020-024-04071-0","url":null,"abstract":"<p><strong>Background: </strong>Diabetic ketoacidosis (DKA) is often treated with intravenous regular insulin infusion (IVRII). Subcutaneous fast-acting insulin analogues (FAIAs); either alone or combined with subcutaneous long-acting insulin (LAI); might be useful to treat DKA. Our meta-analysis updated on their benefits and safety in DKA.</p><p><strong>Methods: </strong>We searched major electronic databases for randomised trials on subcutaneous FAIAs ± subcutaneous LAI vs IVRII in DKA. Primary outcomes were all-cause in-hospital mortality, time to resolution of DKA and hyperglycemia, in-hospital DKA recurrence and hospital readmission for DKA post-discharge. Secondary outcomes included resource utilisation and patient satisfaction. Safety outcomes were adverse events. Reviewers assessed risk of bias and quality of evidence using GRADE. We performed a priori subgroup and trial sequential analyses on primary outcomes.</p><p><strong>Results: </strong>Seven trials enrolled 351 mainly adult patients (255/351) with mild to moderate DKA. No trials studied subcutaneous FAIA and subcutaneous LAI. Their risk of bias was high or unclear in several domains. No all-cause in-hospital mortality and DKA recurrence were reported. No trial investigated hospital readmission for DKA post-discharge. There was no difference in mean time to resolution of DKA (mean difference = -0.70, 95% CI -2.18 to 0.79 h, p = 0.36) or hyperglycemia [blood glucose < 250 mg/dL (13.9 mmol/L)] (mean difference = -0.17, 95% CI -1.10 to 0.76 h, p = 0.72) between subcutaneous FAIA and IVRII groups. There were largely no subgroup effects. Both groups had similar secondary outcomes. Hypoglycemia was the most common adverse event. Quality of evidence was low to very-low for all outcomes. The only possible trial sequential analysis for time to resolution of DKA was inconclusive.</p><p><strong>Conclusions: </strong>There was low- to very-low quality evidence that subcutaneous FAIA did not affect patient-centered outcomes in mainly adult patients with mild to moderate DKA compared to IVRII.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2024-10-15DOI: 10.1007/s12020-024-04070-1
Stavroula Psachna, Maria Eleni Chondrogianni, Konstantinos Stathopoulos, Antonis Polymeris, Antonios Chatzigeorgiou, Efstathios Chronopoulos, Symeon Tournis, Eva Kassi
{"title":"The effect of antidiabetic drugs on bone metabolism: a concise review.","authors":"Stavroula Psachna, Maria Eleni Chondrogianni, Konstantinos Stathopoulos, Antonis Polymeris, Antonios Chatzigeorgiou, Efstathios Chronopoulos, Symeon Tournis, Eva Kassi","doi":"10.1007/s12020-024-04070-1","DOIUrl":"https://doi.org/10.1007/s12020-024-04070-1","url":null,"abstract":"<p><p>Diabetes mellitus (DM) is a complex metabolic disorder characterized by chronic hyperglycemia, which derives from either insufficient insulin production [type 1 diabetes mellitus (T1DM)] or both impaired insulin sensitivity along with inadequate insulin production [type 2 diabetes mellitus (T2DM)] and affects millions of people worldwide. In addition to the adverse effects of DM on classical target organs and tissues, skeletal health can also be adversely affected. There is considerable evidence linking DM with osteoporosis. The fracture risk in patients with DM differs upon the type of diabetes, and it appears to be related to the type of anti-diabetic treatment. Antidiabetic drugs may have various effects on bone health. Most of them have neutral or even favorable effects on bone metabolism with the exception of thiazolidinediones (TZDs). Some studies suggest that TZDs may have negative impact on bone health by decreasing bone formation and increasing the fracture risk. There are also limited studies linking the use of canagliflozin, a Sodium-glucose contransporter-2 inhibitor (SGLT2i), with increased fracture risk. On the other hand, therapies that are based on incretin effect, like Dipeptidyl peptidase-4 inhibitors (DPP-4i) and Glucagon-like peptide-1 receptor agonizts (GLP-1RAs) might have positive effects on bone health by promoting bone formation. Herein we review the impact of antidiabetic drugs on bone health, highlighting the potential benefits and risks associated with these medications in an attempt to contribute to the development of personalized treatment strategies for individuals with DM.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2024-10-14DOI: 10.1007/s12020-024-04065-y
Gulnaz Wazir, Abdul Wajid, Abdul Wahid, Andleeb Batool, Asia Parveen, Quratulain Maqsood, Aqsa Zahid, Shaista Aslam, Naila Malkani
{"title":"Genomic association of SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 genes with polycystic ovarian syndrome.","authors":"Gulnaz Wazir, Abdul Wajid, Abdul Wahid, Andleeb Batool, Asia Parveen, Quratulain Maqsood, Aqsa Zahid, Shaista Aslam, Naila Malkani","doi":"10.1007/s12020-024-04065-y","DOIUrl":"https://doi.org/10.1007/s12020-024-04065-y","url":null,"abstract":"<p><strong>Objective: </strong>Polycystic Ovarian Syndrome (PCOS) is a complex endocrine disorder that affects women of reproductive age. Several candidate genes have been shown to be associated with PCOS. Previous studies have shown that variations in CYP11A1 and CYP19A1 genes are associated with hormonal dysregulation associated with PCOS in different ethnic populations. This study aims to investigate the genomic association between SNPs rs4077582 of CYP11A1 and rs700519 of CYP19A1 and the development of PCOS in Pakistani population.</p><p><strong>Methods: </strong>A total of 280 subjects were recruited for the study, including 142 PCOS cases diagnosed based on Rotterdam criteria and 138 age-matched controls. The anthropometric, hormonal and biochemical parameters of all subjects were analyzed. Genomic DNA was extracted and genotyping of the selected SNPs was performed using Sanger sequencing. Further, we also examined the genotypic-phenotypic correlation analysis for various clinical and biochemical parameters for SNP rs4077582 of CYP11A1.</p><p><strong>Results: </strong>We found significant differences in allele frequency (OR = 0.42, 95% CI = 0.30-0.60, χ<sup>2</sup> = 16.3693, p = 0.000052) and genotypic frequency (χ<sup>2</sup> = 26.4376, p = 0.00001) between PCOS women and controls for SNP rs4077582 of CYP11A1. Genotype-phenotype correlation analysis showed a significant difference in FAI (p = 0.005), testosterone (p = 0.001), androstenedione (p = 0.005) and urea (p = 0.049) levels between the three genotypes. No association between SNP rs700519 of CYP19A1 and PCOS was observed.</p><p><strong>Conclusion: </strong>Our results suggest the role of SNP rs4077582 of CYP11A1 gene in the clinical manifestation of PCOS in Pakistani women.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
EndocrinePub Date : 2024-10-14DOI: 10.1007/s12020-024-04068-9
Sabire Kilicarslan, Meliha Merve Hiz-Cicekliyurt
{"title":"Identification of potential biomarkers of papillary thyroid carcinoma.","authors":"Sabire Kilicarslan, Meliha Merve Hiz-Cicekliyurt","doi":"10.1007/s12020-024-04068-9","DOIUrl":"https://doi.org/10.1007/s12020-024-04068-9","url":null,"abstract":"<p><p>Papillary thyroid cancer (PTC) is the predominant form of malignant tumor affecting the thyroid gland.</p><p><strong>Aim: </strong>This study aimed to identify candidate biomarkers for papillary thyroid carcinoma using an integrative analysis of bioinformatics and machine learning (ML).</p><p><strong>Material and method: </strong>The PTC datasets GSE6004, GSE3467, and GSE33630 (species: Homo sapiens) were downloaded from NCBI and analyzed using the limma package to obtain DEGs. Once DEGs were identified, GO and KEGG enrichment analyses were performed as the first step in the bioinformatics process. Subsequently, a protein-protein interaction (PPI) network was constructed according to the common genes in bioinformatics and machine learning using STRING to elucidate the important genes involved in PTC pathogenesis. In machine learning, finding genes entails feature selection to identify the key genes that distinguish biological states. Hybrid feature selection will be used for this. In the second step, the original data sets were preprocessed to detect and correct missing and noisy data; after that, all data were merged. Following performing Linear and Discriminative Hybrid Feature Selection (LDHFS) on the processed dataset, machine learning algorithms such as Random Forest (RF), Naive Bayes (NB), and Support Vector Machines (SVM) are utilized.</p><p><strong>Results: </strong>Bioinformatics and machine learning analyses indicate that the genes RXRG, CDH2, ETV5, QPCT, LRP4, FN1, and LPAR5 are integral to the progression of thyroid cancer. This study attained the highest accuracy utilizing the RF algorithm, achieving an accuracy rate of 94.62%, a Kappa value of 91.36%, and an AUC value of 96.13%. These results offer additional evidence and confirmation for the genetic alterations of these genes. These findings may accelerate the development of prospective therapeutic and diagnostic methods in future research.</p><p><strong>Conclusions: </strong>Bioinformatics and machine learning techniques identified the common genes \"RXRG, CDH2, ETV5, QPCT, LRP4, FN1, and LPAR5\" as PTC biomarkers, providing novel reference markers for the diagnosis and treatment of PTC patients. The model is anticipated to possess significant predictive value and assist in the early diagnosis and screening of clinical PTC. These insights enhance the field of PTC management and offer guidance for future research.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}