Endokrynologia Polska最新文献

{"title":"Radiofrequency ablation for papillary thyroid microcarcinoma close to the thyroid capsule versus far from the thyroid capsule: a retrospective study.","authors":"Jieli Luo, Tianchen Hui, Peile Jin, Yang Sun, Yajun Chen, Zimei Lin, Pintong Huang","doi":"10.5603/ep.95964","DOIUrl":"10.5603/ep.95964","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to evaluate the safety and efficacy of ultrasound-guided radiofrequency ablation (RFA) for the management of papillary thyroid microcarcinoma (PTMC) close to the thyroid capsule.</p><p><strong>Material and methods: </strong>This was a retrospective study of 202 patients with PTMC who underwent RFA close to the thyroid capsule and 80 patients with PTMC who underwent RFA far from the thyroid capsule between June 2015 and December 2022. The follow-up time after RFA, change in size of tumour, location, thyroid function, the rates of PTMC disappearance, and complications were evaluated.</p><p><strong>Results: </strong>A total of 202 patients with PTMC close to the thyroid capsule and 80 patients with PTMC far from the thyroid capsule successfully treated with RFA were studied. The thyroid function including free triiodothyronine (fT3), free thyroxine (fT4), triiodothyronine (T3), thyroxine (T4), and thyroid-stimulating hormone (TSH) showed no changes after RFA for one months in both groups. The tumour size was increased at 1, 3, and 6 months after RFA compared with pre-operative RFA in both groups. The tumour size was decreased at 12 and 24 months after RFA compared with pre-operative RFA both in both group. Seventy-nine PTMC close to the thyroid capsule and 30 PTMC far from the thyroid capsule completely disappeared as assessed by ultrasound examination. Eighty-four PTMC patients close to the thyroid capsule and 34 PTMC patients far from the thyroid capsule had minor complications after RFA treatment. The complication rates between the 2 groups were similar.</p><p><strong>Conclusion: </strong>Ultrasound-guided RFA seems to be an effective and safe method for patients with PTMC close to the thyroid capsule.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 1","pages":"35-41"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144939","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":"Acoustic outcomes and voice-related quality of life in male-to-female transsexuals undergoing Wendler glottoplasty: a single-centre experience.","authors":"Maciej Misiołek, Marta Rogalska, Maciej Zieliński, Anna Kasperczuk, Anna Koniewska","doi":"10.5603/ep.98899","DOIUrl":"10.5603/ep.98899","url":null,"abstract":"<p><strong>Introduction: </strong>Many transsexual women seek to feminise their voice through pitch elevation surgeries so that it becomes congruent with their gender identity. This study aims to determine the safety and effectiveness of Wendler glottoplasty (WG) in vocal feminisation through the assessment of acoustic and aerodynamic parameters of the voice, as well as voice-related quality of life (QoL) in male-to-female transsexuals.</p><p><strong>Material and methods: </strong>We retrospectively reviewed the medical records of transsexual women who underwent WG for voice feminisation at our institution between 2016 and 2023. All acoustic and aerodynamic analyses, a voice self-assessment, and a videolaryngostroboscopic evaluation were performed in the immediate preoperative period and at the follow-up visit 6 weeks after the procedure.</p><p><strong>Results: </strong>A total of 11 patients with a mean age of 32.73 years were included. After WG, there was a significant fundamental frequency and speaking fundamental frequency increase of 109.64 Hz and 83.48 Hz, respectively (p < 0.001), representing an average rise by 9.71 semitones and 8.36 semitones (STs), respectively. No significant differences were found between the mean pre- and postoperative values of fundamental frequencies, frequency range, upper limit of the frequency range of spoken voice, and maximum phonation time. Contrarily, the mean lower limit of frequency range rose by 75.56 Hz (p < 0.001), representing an average increase of 10.56 STs. None of the assessed spirometric parameters changed significantly after WG (p > 0.05). The mean overall Voice Handicap Index (VHI) and Voice-Related Quality of Life (V-RQOL) scores significantly improved after the surgery, decreasing by 24.54 points (p = 0.008) and 11.5 points (p = 0.001), respectively. A significant improvement was observed in the functional and emotional domains of VHI. Additionally, significantly fewer patients considered the overall quality of their voice to be \"poor\" after WG.</p><p><strong>Conclusions: </strong>WG constitutes an effective method of surgical voice feminisation in male-to-female transsexuals with concurrent improvement in their voice-related QoL. Furthermore, it remains a safe procedure without persistent complications and negative influence on the acoustic-aerodynamic measures of the voice.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"222-229"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144850","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":"Recent guidelines for diagnostic and therapeutic management of accidentally detected adrenal tumours (incidentaloma) in adults.","authors":"Katarzyna Janiak, Katarzyna Józwik-Plebanek, Grzegorz Kamiński","doi":"10.5603/ep.100278","DOIUrl":"10.5603/ep.100278","url":null,"abstract":"<p><p>At the end of 2023, the European Journal of Endocrinology published the latest guidelines of the European Society of Endocrinology (ESE) on the management of accidentally detected adrenal tumours (incidentalomas) in adults. Comparing them with the previous version of the ESE recommendations from 2016, a tendency towards far-reaching individualisation of the therapeutic and diagnostic approach in patients with adrenal incidentaloma can be seen - it is reflected by changes in the initial assessment of the malignancy of the lesion, in the scope of the proposed hormonal assessment, and qualification for surgery. The latest version of the guidelines includes 9 completely new recommendations, and 5 more recommendations have been significantly changed. Among the most important changes, the introduction of the term \"mild autonomous cortisol secretion\" (MACS) instead of the previously used term \"autonomous cortisol secretion (ACS)\" along with more precise recommendations regarding its management should be emphasised. An important novelty is also the modification of the criteria for benign adrenal adenoma, which does not require further imaging observation - due to the results of recent clinical studies, the authors have removed the criteria of size below 4 cm from the definition. Among others, the guidelines also encourage more proactive surgical treatment of indeterminate adrenal incidentaloma in people < 40 years of age and pregnant women. The authors of the recommendations repeatedly accentuate the importance of a multidisciplinary approach in making decisions regarding further management of patients with an unspecified adrenal tumour. Despite a few significant differences compared to the previous version of guidelines, the authors emphasise the presence of gaps in the current scientific evidence, which would not allow for the formulation of more unambiguous recommendations. The need to optimise ordered diagnostic tests, which generate additional socio-economic burdens without negative impact on patients' health, is also an important aspect of the latest guidelines.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 4","pages":"385-394"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142304592","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":"Clinical analysis of salt-wasting in infants due to genetic aetiology.","authors":"Yanshu Xie, Xu Liu, Jing Tang, Dan Lan","doi":"10.5603/ep.101578","DOIUrl":"https://doi.org/10.5603/ep.101578","url":null,"abstract":"<p><strong>Introduction: </strong>This study was aimed to get an overview of the clinical analyses and genetic characteristics of salt-wasting (SW) in infants caused by genetic aetiology.</p><p><strong>Material and methods: </strong>A retrospective study was conducted for infants at the Paediatric Unit of the First Affiliated Hospital of Guangxi Medical University from January 2012 to July 2022.</p><p><strong>Results: </strong>Thirty infants were enrolled in this retrospective study. Twenty-six infants (86.7%) were diagnosed with congenital adrenal hyperplasia (CAH), and all of them had SW type 21-hydroxylase deficiency. Four infants (13.3%) were non-CAH. One girl was diagnosed with congenital chloride diarrhoea due to known homozygous mutations in the SLC26A3 gene, and another girl had Barter's syndrome due to a mutation in the CLCNKB gene. One boy was diagnosed with pseudohypoaldosteronism type 1 due to a novel mutation in the NR3C2 gene, and another boy was confirmed with aldosterone synthase deficiency due to novel compound heterozygous mutations in the CYP11B2gene. Meanwhile, we verified the pathogenicity of the novel compound heterozygous of CYP11B2 gene in in vitro experiments.</p><p><strong>Conclusions: </strong>The genetic aetiologies of infants with SW were mostly CAH. However, pseudohypoaldosteronism and aldosterone synthase deficiency should also be considered in infants who present with salt-wasting syndrome. Normal or high aldosterone levels cannot be a factor by which to rule out the possibility of aldosterone synthase deficiency (ASD) in infancy. Gene analysis can be used to confirm the disorder.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 6","pages":"684-692"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143652763","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 novel homozygous variant in exon 4 of the GALNT3 gene causing hyperphosphataemic familial tumoural calcinosis in a family from China.","authors":"Yi Zhang, Hongda Li, Bo Gao, Gang Zhou","doi":"10.5603/ep.101488","DOIUrl":"10.5603/ep.101488","url":null,"abstract":"<p><p>Not required for Clinical Vignette.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 6","pages":"705-706"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143652753","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":"STAR gene mutation in a patient with congenital lipoid adrenal hyperplasia.","authors":"Yan Zhang, Chunying Song, Lei Zhang, Lixin Shi, Qiao Zhang","doi":"10.5603/ep.99040","DOIUrl":"10.5603/ep.99040","url":null,"abstract":"<p><p>Not required for Clinical Vignette.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"332-333"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141422238","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":"Correlation analysis of FT3/FT4 and frailty in elderly patients with coronary heart disease.","authors":"Jiling Qu, Siqi Ji, Ting Zhou, Chuntao Wang, Yongbing Liu","doi":"10.5603/ep.100711","DOIUrl":"10.5603/ep.100711","url":null,"abstract":"<p><strong>Introduction: </strong>In previous studies on thyroid hormones and frailty, most of the target population were elderly, and there were relatively few studies on elderly patients with coronary heart disease (CHD). Inflammation, oxidative stress, and haemodynamic instability in cardiovascular disease (CVD) can influence fluctuations in thyroid hormone (TH) levels and increase the incidence of frailty. The purpose of the present study was to explore the effect of TH on the risk of frailty in elderly patients with CHD.</p><p><strong>Material and methods: </strong>The Fried scale was used to assess the frailty of participants. The predictive value of TH for frailty was determined using the patient's operating characteristic curve. Multivariate logistic regression model was utilised to analyse the relationship between TH and frailty.</p><p><strong>Results: </strong>A total of 277 elderly patients with CHD were included in the study, of whom 29.96% were in a state of frailty. Free triiodothyronine (FT3)/free thyroxine (FT4) predicted frailty with the largest area under the curve of 0.634. Unordered multinomial logistic regression analysis showed that a lower T3 level was a risk factor for pre-frailty (p < 0.05). Lower levels of T3, FT3, and FT3/FT4 were risk factors for frailty (p < 0.05) after adjusting for demographic variables and blood indexes.</p><p><strong>Conclusion: </strong>The predictive value of FT3/FT4 for frailty was more accurate than that of a single index. Moreover, T3 ≤ 1.095 nmol/L, FT3 ≤ 4.085 pmol/L, and FT3/FT4 ≤ 0.336 were shown to be the influencing factors of frailty, while T3 ≤ 1.095 nmol/L is an independent risk factor pre-frailty. Clinicians should focus on timely identification of the risk of frailty in order to improve patient quality of life and to reduce the risk of complications.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"510-516"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396264","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":"The functional DIAPH3-FOXM1 interaction modulates the aggressive transformation of anaplastic thyroid carcinoma cells and Wnt/β-catenin signalling.","authors":"Ping Shi, Hao Fang, Kai Fu, Zhen Zhao, Fei Yang, Yan Liu","doi":"10.5603/ep.100719","DOIUrl":"10.5603/ep.100719","url":null,"abstract":"<p><p>Anaplastic thyroid carcinoma (ATC) is reckoned as an infrequent but extremely advanced neoplasm of the endocrine system. Diaphanous-related formin 3 (DIAPH3) has been extensively implicated in carcinogenic events, but it has not been introduced in ATC. Herein, the role of DAPIH3 and the interrelated functional mechanism are characterised in ATC. The Gene Expression Omnibus (GEO) database was checked for differential DIAPH3 expression in ATC samples and noncancerous samples. Western blotting examined DIAPH3 and forkhead box M1 (FOXM1) expression in ATC cells. In vitro cell counting kit 8 (CCK-8) method, 5-ethynyl-2'-deoxyuridine (EdU) incorporation, Scratch, Matrigel invasion, and terminal-deoxynucleotidyl transferase mediated nick end labelling (TUNEL) assays were used to assess the potential of cells to proliferate, migrate, and invade as well as the cellular apoptotic rate. Co-IP was applied to access DIAPH3-FOXM1 protein interaction. Western blotting also disclosed the expression of proteins associated with apoptosis and Wnt/β-catenin signalling. DIAPH3 was hyper-expressed in papillary cell carcinoma (PTC) tissues and cells. Depleting DIAPH3 strongly eliminated the proliferative, migratory, as well as invasive capabilities of PTC cells while intensifying the apoptotic ability. FOXM1 also harboured elevated expression in PTC cells. FOXM1 was the binding partner with DIAPH3, and the 2 were positively correlated. FOXM1 upregulation again exacerbated the potentials to proliferate, migrate, and invade but it repressed the apoptotic rate of DIAPH3-depleted cells. Furthermore, loss of DIAPH3 downregulated FOXM1 to block Wnt/b-catenin signalling in PTC cells. Combined with these findings, DIAPH3 might favour the aggressive advancement of ATC and motivate the Wnt/β-catenin signalling via binding with FOXM1.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"501-509"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396268","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":"Association of anti-Müllerian hormone and insulin resistance in adolescent girls with polycystic ovary syndrome.","authors":"Gang Guo, Huan Zheng, Xia Wu","doi":"10.5603/ep.96323","DOIUrl":"10.5603/ep.96323","url":null,"abstract":"<p><strong>Introduction: </strong>Insulin resistance (IR) is confirmed as an important feature among polycystic ovary syndrome (PCOS) patients. Anti-Müllerian hormone (AMH), a vital marker of ovarian dysfunction, is proposed for inclusion in the diagnosis of PCOS in adolescents. We sought to investigate the relationship between the AMH level and IR in Chinese girls with PCOS.</p><p><strong>Material and methods: </strong>92 girls with PCOS aged 14-18 years were enrolled and divided into 2 subgroups: PCOS with IR group (n = 25) and PCOS without IR group (n = 67). A homeostasis model assessment-insulin resistance (HOMA-IR) value ≥ 2.5 was defined as IR. Clinical data and biochemical indexes were compared between the 2 groups. Multivariate logistic regression analysis and multivariate linear regression analysis were performed to determine which clinical variables were independently associated with IR and AMH level, respectively.</p><p><strong>Results: </strong>PCOS girls with IR had higher levels of AMH than those of PCOS girls without IR (p < 0.01). Moreover, body mass index, triglyceride, and AMH values were shown to be independent risk factors for HOMA-IR after multivariate analysis. Meanwhile, age, insulin, and follicle-stimulating hormone levels were significantly related to AMH levels in those girls.</p><p><strong>Conclusions: </strong>Our findings show that AMH is an independent determinant of IR in PCOS adolescents, and the fasting insulin level is closely associated with the AMH level, which indicates that the AMH pathway might play a role in the development of IR in PCOS adolescents. The interaction between AMH and IR in PCOS girls warrants further large-scale evaluation.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 1","pages":"83-88"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144855","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":"Ectopic ACTH syndrome caused by thymic neuroendocrine tumour - stages of treatment.","authors":"Magdalena Londzin-Olesik, Agata Walter","doi":"10.5603/ep.103717","DOIUrl":"10.5603/ep.103717","url":null,"abstract":"<p><p>Not required for Clinical Vignette.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 6","pages":"699-700"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142908094","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}