Minerva endocrinology最新文献

{"title":"Autosomal dominant pseudohypoparathyroidism type 1b due to STX16 deletion: a case presentation and literature review.","authors":"Georgios Kostopoulos, Georgios Tzikos, Alexandros Sortsis, Konstantinos Toulis","doi":"10.23736/S2724-6507.20.03233-2","DOIUrl":"10.23736/S2724-6507.20.03233-2","url":null,"abstract":"<p><strong>Introduction: </strong>Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare, genetically related, endocrine disorders, characterized by end-organ resistance to parathyroid hormone (PTH) action and other G protein-coupled receptors (GPCRs) related hormones. The clinical variants of PHP are classified according to the presence of features of Albright's hereditary osteodystrophy (AHO) and in vivo response to exogenous PTH. Autosomal dominant PHP1b is often caused by a deletion in the syntaxin-16 (STX16) gene, leading to a loss of methylation in the A/B exon of the guanine nucleotide-binding protein a-stimulating polypeptide (GNAS) complex. Herein, we present a case of a 41-year-old man with familiar PHP1b due to a maternal inherited 3-kb STX16 deletion, who was referred to us for consultation by artificial reproductive technology specialists.</p><p><strong>Evidence acquisition: </strong>A bibliographic search was performed in electronic databases (PubMed and Cochrane Library) to identify similar cases.</p><p><strong>Evidence synthesis: </strong>Twenty studies (case-series or reports) were eligible. These studies included collectively 120 patients; 46 patients (38.3%) presented with symptoms of hypocalcemia; 38 were asymptomatic (31.7%); data for 36 patients (30%) were unavailable. Thyroid-stimulating hormone (TSH) resistance was documented in 25 occasions (21%); growth hormone deficiency in 2 (1.7%); 3 patients shared features of the AHO (2.5%); 6 had abnormal bone mineral density test (5%). Notable is the development of tertiary hyperparathyroidism in 3 individuals (2.5%).</p><p><strong>Conclusions: </strong>The present review confirms the heterogeneity in the clinical spectrum of familiar PHP1b. Future research should focus on the molecular characterization of the GNAS disorders, leading to a facile diagnosis and appropriate genetic counseling.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"217-225"},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39750963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comparison of intensive insulin therapy and dipeptidyl peptidase-4 inhibitor plus metformin combination in newly diagnosed type 2 diabetes mellitus.","authors":"Halit Diri, Basak Bolayir, Hikmet Soylu, Sedat Cetin, Mehmet Simsek","doi":"10.23736/S2724-6507.23.03928-3","DOIUrl":"10.23736/S2724-6507.23.03928-3","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"228-230"},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9801461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Risk of erythrocytosis in transgender individuals undergoing testosterone therapy: a systematic review.","authors":"Alberto Scala, Andrea Graziani, Fabrizio Vianello, Alberto Ferlin, Andrea Garolla","doi":"10.23736/S2724-6507.24.04171-X","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04171-X","url":null,"abstract":"<p><strong>Introduction: </strong>In transgender individuals assigned female at birth, testosterone therapy is employed for body masculinization. Guidelines recommend close monitoring for potential side effects of hormonal therapy, especially during the first year. Erythrocytosis is a common finding during testosterone therapy and has been associated with a potential risk of thrombotic and cardiovascular events. Currently, the hematologic effects of testosterone therapy are understudied, with existing data primarily derived from the cisgender male population. The aim of this study was to comprehensively examine the hematological changes induced by testosterone therapy in the transgender population.</p><p><strong>Evidence acquisition: </strong>A systematic search was conducted using the electronic database PubMed.</p><p><strong>Evidence synthesis: </strong>Thirty-six manuscripts were retrieved. After screening for original studies, 19 articles were included. Selected articles were published between 2005 and 2023.</p><p><strong>Conclusions: </strong>In our systematic review, the prevalence of erythrocytosis varied from 0% to 29.3%, with severe erythrocytosis ranging from 0.5% to 2.3%. Testosterone therapy was associated with an increase in hemoglobin and hematocrit, particularly within the first year of therapy. Factors such as serum testosterone levels, along with the duration, doses, and formulation of testosterone therapy, were found to be associated with the development of erythrocytosis. Further research is crucial to provide specific recommendations for clinical practice.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":"49 2","pages":"205-216"},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723937","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Highlights of the April-June 2024 issue.","authors":"Giovanni Vitale","doi":"10.23736/S2724-6507.24.04238-6","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04238-6","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":"49 2","pages":"123-124"},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141723936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quality of outcome reporting for clinical trails on medullary thyroid cancer registered on ClinicalTrials.gov.","authors":"Giuseppe Fanciulli, Stefania Bellino, Anna LA Salvia","doi":"10.23736/S2724-6507.23.04034-4","DOIUrl":"10.23736/S2724-6507.23.04034-4","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"230-231"},"PeriodicalIF":2.5,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9801460","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lifestyle and Italian students.","authors":"Patrizia Balbinot, Gianni Testino","doi":"10.23736/S2724-6507.24.04211-8","DOIUrl":"https://doi.org/10.23736/S2724-6507.24.04211-8","url":null,"abstract":"","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140922818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness and safety of lenvatinib in a series of advanced well-differentiated thyroid carcinomas from a single tertiary cancer center and literature review.","authors":"Inês L Damásio, Ana Figueiredo, Joana Maciel, Mariana Horta, Tiago N Silva, Joana Simões-Pereira, Sara Donato, Valeriano Leite","doi":"10.23736/S2724-6507.23.03982-9","DOIUrl":"https://doi.org/10.23736/S2724-6507.23.03982-9","url":null,"abstract":"<p><strong>Background: </strong>Treatment of advanced differentiated thyroid carcinoma (DTC) remains a challenge as 25-50% of patients with locally invasive or distant metastatic disease become refractory to radioiodine (RAI) therapy. Tyrosine kinase inhibitors (TKI) are increasingly used in this setting. The SELECT trial demonstrated that lenvatinib, a multikinase inhibitor, significantly improved progression free survival (PFS) compared to placebo. Our aim was to report the effectiveness and safety of lenvatinib in our series of patients with advanced DTC.</p><p><strong>Methods: </strong>A total of 25 patients with advanced DTC followed at a single tertiary center from January of 2016 to January of 2022 were retrospectively reviewed.</p><p><strong>Results: </strong>Patients were treated with a mean daily dose of lenvatinib of 16.9 mg for a mean of 9.1 months. Median estimated PFS was 31.3 months. One patient achieved complete response. The objective response rate (ORR) was 40% and the disease control rate was 84%. The mean change in summed longest diameter of target lesions from baseline to nadir was -36.9%. Lenvatinib prolonged the tumor volume doubling time in 86.7% patients. Interestingly, we found that patients treated with a lower dose of lenvatinib (<16.9 mg daily) had a significantly higher PFS and ORR than patients treated with higher dosages (>16.9 mg). Adverse events were frequently reported.</p><p><strong>Conclusions: </strong>Our results confirm the effectiveness of lenvatinib in the management of patients with advanced DTC and support the need to adjust the dosage of lenvatinib to patient´s performance status and comorbidities.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":""},"PeriodicalIF":4.1,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140184907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leptin effects: focusing on the relationship between obesity and male infertility.","authors":"Davide LA Padula, Lucia Zavaglia, Tarig Hamad, Marta C Nocito, Saveria Aquila, Paola Avena, Vittoria Rago","doi":"10.23736/S2724-6507.22.03901-X","DOIUrl":"10.23736/S2724-6507.22.03901-X","url":null,"abstract":"<p><p>The human male infertility has several causes interconnected to improper lifestyles such as smoking, sedentarism, environmental factors, toxins accumulation and energy imbalances. All these factors contribute to the obesity accompanied metabolic syndrome and hormonal alterations in the leptin-ghrelin axis. The leptin (Lep) has many pleiotropic effects in several biological systems, directly on the peripheral tissues or through the central nervous system. Many studies suggest that Lep is a key player in gonadal functions beside its documented role in reproductive regulation; however, further investigations are still necessary to elucidate all the molecular pathways involved in these mechanisms. Keeping into account that increased Lep levels in obese men are positively correlated with altered sperm parameters and testicular oxidative stress, evidence refers to Lep as a potential link between obesity and male infertility. This review represents an updated version on the concept of the Lep roles in mediating the male reproductive functions in obese patients.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"100-110"},"PeriodicalIF":4.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33545855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predicting clinical outcomes of patients with serum thyroglobulin antibodies after thyroidectomy for differentiated thyroid cancer: a retrospective study from a UK regional center.","authors":"Hannah Anderson, Kah H Lim, Sadaf Gull, Raluca Oprean, Kirsty Spence, Titus Cvasciuc","doi":"10.23736/S2724-6507.23.03939-8","DOIUrl":"10.23736/S2724-6507.23.03939-8","url":null,"abstract":"<p><strong>Background: </strong>Twenty-twenty-five percent of patients with differentiated thyroid cancer (DTC) can have elevated thyroglobulin antibodies (TgAb). The study aimed to find any prognostic significance of elevated TgAb during follow-up.</p><p><strong>Methods: </strong>Ten-year retrospective study from a tertiary center including 79 patients with raised TgAb after total/staged thyroidectomy for DTC. We identified patients with stable (7.6%), increasing (15%) and decreasing levels of TgAb (77.2%); groups 1, 2 and 3 respectively. During follow-up we analyzed TgAb in subcategories by TgAb trend (>50% rise, <50% rise, >50% decline, <50% decline, positive to negative/normalization, negative to positive and stable levels), gender, age, surgery, autoimmune disease, histology, RAI uptake, distant metastases, and recurrence.</p><p><strong>Results: </strong>The incidence of raised TgAb levels was 33.2%, with female predominance. No connection was identified regarding other parameters. 11.4% had distant metastases. The highest mean maximum levels of TgAb was in group 2 (1918.75 IU/mL) and the lowest in group 3 (412.70 IU/mL). The recurrence rate changed significantly between the 3 groups: 50% in group 1, 75% in group 2, and 25% in group 3 (P=0.002). Recurrence rates decreased to 15% in the subcategory where TgAb became negative/normal from positive (P=0.0001). In patients with a negative to positive TgAb level trend or >50% rise, recurrence rates were 100% (P=0.041) and 70% (P=0.012) respectively.</p><p><strong>Conclusions: </strong>Patients with increasing TgAb levels during follow-up have a higher rate of recurrence, distinctly for those with negative to positive trend and >50% rise in TgAb. These patients need closer follow-up, and TgAb may be used as a dynamic follow-up marker.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"60-68"},"PeriodicalIF":4.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10123093","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nucleobindin-2 derived nesfatin-1 in polycystic ovary syndrome: a PRISMA and GRADE-compliant systematic review and meta-analysis with diagnostic test accuracy.","authors":"Konda Venkata Nagaraju, Mona Lisa, Seshadri Reddy Varikasuvu, Subodh Kumar, Harminder Singh, Faustino R Pérez-López, Pratima Gupta, Saurabh Varshney","doi":"10.23736/S2724-6507.23.04003-4","DOIUrl":"10.23736/S2724-6507.23.04003-4","url":null,"abstract":"<p><strong>Introduction: </strong>Nesfatin-1 is a satiety peptide secreted by central, peripheral nervous system and some peripheral tissues. This meta-analysis was conducted to explore the associations with diagnostic accuracy of circulatory nesfatin-1 in polycystic ovary syndrome (PCOS).</p><p><strong>Evidence acquisition: </strong>Relevant studies were retrieved by online database and manual searching. The standardized mean differences (SMDs) with 95% confidence intervals (CIs) were obtained by a random-effects meta-analysis. The subgroup analysis based on the Body Mass Index (BMI), fasting insulin (F-INS), and the homeostasis model assessment-estimated insulin resistance (HOMA-IR) was conducted. Meta-analysis of correlations and meta-regression were performed for the associations of nesfatin-1 with metabolic and hormonal covariates. The diagnostic test accuracy (DTA) meta-analysis was conducted for the utility of nesfatin-1 in PCOS. The publication bias was tested with Egger's and Begg's regression tests.</p><p><strong>Evidence synthesis: </strong>The combined effect size including a total of 14 studies showed a significantly higher nesfatin-1 level in PCOS as compared to controls (SMD=0.93, Z=2.17, P=0.03). The nesfatin-1 was found to be significantly higher in a subgroup of studies with mean BMI>25 kg/m² (SMD=1.35, Z=2.06, P=0.04), F-INS <13 mIU/mL (SMD=2.74, Z=3.59, P=0.0003), and HOMA-IR >2.7 (SMD=1.58, Z=2.65, P=0.008). The DTA meta-analysis produced a pooled diagnostic odds ratio of 19.58 and area under curve were of 0.888 for nesfatin-1 in PCOS.</p><p><strong>Conclusions: </strong>The results indicate a multifactorial involvement such as endocrine and metabolic alterations in the form of BMI, insulin and HOMA-IR status with the higher nesfatin-1 levels in PCOS. The promising results of DTA meta-analysis warrants further research into the clinical and prognostic utility of nesfatin-1 in PCOS.</p>","PeriodicalId":18690,"journal":{"name":"Minerva endocrinology","volume":" ","pages":"111-121"},"PeriodicalIF":4.1,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71522099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}