Endokrynologia Polska最新文献

{"title":"Adrenal hypoplasia congenita and hypogonadotropic hypogonadism due to a novel NR0B1 (DAX1) gene mutation associated with common variable immunodeficiency and Hashimoto's thyroiditis.","authors":"Jasmina Ćirić, Ivana Novaković, Aleksandra Perić-Popadić, Miloš Žarković, Biljana Nedeljković Beleslin, Branka Bonači-Nikolić","doi":"10.5603/ep.99536","DOIUrl":"10.5603/ep.99536","url":null,"abstract":"<p><p>Not required for Clinical Vignette.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"560-561"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142396263","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":"Impact of trenbolone on selected organs.","authors":"Rafał Borecki, Piotr Byczkiewicz, Jolanta Słowikowska-Hilczer","doi":"10.5603/ep.99130","DOIUrl":"10.5603/ep.99130","url":null,"abstract":"<p><p>Trenbolone is a synthetic analogue of testosterone, belonging to the nandrolone group. It has both a strong anabolic effect and a limited androgenic effect (i.e. an androgen and anabolic steroid - AAS). It is used illegally by professional or amateur athletes, who want to improve their athletic performance and appearance by increasing their muscle mass. Trenbolone, like other AASs, are harmful, with 90% of users experiencing injurious side effects. It acts systemically on the body, and as such, its side effects can manifest as symptoms from different systems. Nevertheless, its popularity is increasing. This paper reviews the current state of knowledge regarding the adverse effects of trenbolone on the nervous, reproductive, immune systems and breast, muscular and adipose tissues. However, various other adverse consequences of trenbolone utilization are observed, with severe acne and gynaecomastia affecting approximately one-third of all users, as well as excessive body hair, stretch marks, hypertension and cardiac arrhythmia. The drugs are also subject to contamination, with use frequently resulting in local inflammation at the injection site, muscle adhesions and fibrosis, nerve damage or, in extreme cases, necrosis of the injection site. Additionally, due to the lack of available knowledge on the subject, many of the effects of trenbolone use remain unknown. Moreover, the fact that multiple AASs may be used simultaneously presents a significant problem in their study. Therefore, further research is necessary to better understand the effects of AAS on the body, and to expand our currently incomplete knowledge of their functional pathways.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"267-278"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141422236","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":"https://doi.org/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":"Differential diagnosis of thyroid orbitopathy - diseases mimicking the presentation or activity of thyroid orbitopathy.","authors":"Mariusz Nowak, Wojciech Nowak, Bogdan Marek, Beata Kos-Kudła, Lucyna Siemińska, Magdalena Londzin-Olesik, Dariusz Kajdaniuk","doi":"10.5603/ep.98156","DOIUrl":"10.5603/ep.98156","url":null,"abstract":"<p><p>Thyroid orbitopathy (TO) is the most common cause of orbital tissue inflammation, accounting for about 60% of all orbital inflammations. The inflammatory activity and severity of TO should be diagnosed based on personal experience and according to standard diagnostic criteria. Magnetic resonance imaging (MRI) of the orbit is used not only to identify swelling and to differentiate inflammatory active from non-active TO, but also to exclude other pathologies, such as orbital tumours or vascular lesions. However, a group of diseases can mimic the clinical manifestations of TO, leading to serious diagnostic difficulties, especially when the patient has previously been diagnosed with a thyroid disorder. Diagnostic problems can be presented by cases of unilateral TO, unilateral or bilateral TO in patients with no previous or concomitant symptoms of thyroid disorders, lack of symptoms of eyelid retraction, divergent strabismus, diplopia as the only symptom of the disease, and history of increasing diplopia at the end of the day. The lack of visible efficacy of ongoing immunosuppressive treatment should also raise caution and lead to a differential diagnosis of TO. Differential diagnosis of TO and evaluation of its activity includes conditions leading to redness and/or swelling of the conjunctiva and/or eyelids, and other causes of ocular motility disorders and eye-setting disorders. In this paper, the authors review the most common diseases that can mimic TO or falsify the assessment of inflammatory activity of TO.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 1","pages":"1-11"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144856","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":"Effect of steroid therapy in a 16-year-old girl observed for lymphocytic hypophysitis.","authors":"Elżbieta Moszczyńska, Marta Baszyńska-Wilk, Patrycja Dasiewicz, Aleksandra Tutka, Anna Smorczewska-Kiljan, Magdalena Marszał, Iwona Pakuła-Kościesza","doi":"10.5603/ep.96770","DOIUrl":"10.5603/ep.96770","url":null,"abstract":"<p><p>Not required for Clinical Vignette.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 1","pages":"109-110"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144858","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":"Height loss in postmenopausal women predicts multiple fractures in 10-year follow-up: results from the RAC-OST-POL study.","authors":"Wojciech Pluskiewicz, Piotr Adamczyk, Aleksandra Werner, Malgorzata Bach, Bogna Drozdzowska","doi":"10.5603/ep.97226","DOIUrl":"10.5603/ep.97226","url":null,"abstract":"<p><strong>Introduction: </strong>In daily practice the diagnostic process for osteoporosis in elderly patients should also include physical assessment. The aim of the study was to verify the hypothesis that height loss (HL) predicts fracture incidence.</p><p><strong>Material and methods: </strong>The study was performed in an epidemiological sample of postmenopausal women recruited in the RAC-OST-POL study. At baseline, data were collected in 978 postmenopausal women at a mean age of 66.48±7.6 years, and at 10-year follow-up 640 patients remained, with a mean age of 75.04 ± 6.95 years. Current height and HL were established in regard to maximal life height. Data on fracture incidence were gathered throughout the period of observation.</p><p><strong>Results: </strong>During the follow-up period 190 osteoporotic fractures were noted. Ninety-one women had one fracture, and in 38 women, multiple fractures occurred. In the fractured and unfractured subgroups, HL was 5.45 ± 3.28 and 4.8 ± 3.56 cm, respectively, and differed significantly (p < 0.05). HL in subjects without fracture did not differ from those with one fracture (HL 4.8 ± 3.56 vs. 4.8 ± 2.66 cm, respectively). For patients with more than one fracture HL was 7.03 ± 4.06 cm and was significantly higher than in subjects with one or without any fracture (p < 0.01). Based on receiver operating characteristic (ROC) analysis, HL of 6 cm was identified as the cut-off point for high risk of multiple fractures.</p><p><strong>Conclusion: </strong>HL of at least 6 cm is the predictor of multiple fractures in a prospective observation of a representative epidemiological female sample. Therefore, the measurement of HL should always be included in patients' assessments.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 1","pages":"95-101"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144859","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":"Long-term remission of corticosteroid-resistant Graves' orbitopathy after therapy with tocilizumab.","authors":"Joanna Rymuza, Aleksander Kuś, Dorota Białas-Niedziela, Monika Turczyńska, Dariusz Kęcik, Tomasz Bednarczuk","doi":"10.5603/ep.97224","DOIUrl":"10.5603/ep.97224","url":null,"abstract":"<p><p>Not required for Clinical Vignettes.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 1","pages":"117-118"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144932","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":"p53-associated miRNAs repress lncRNA ZFAS1 to retard the proliferation of papillary thyroid carcinoma.","authors":"Gang Wang, Liping Wei, Hui Yang","doi":"10.5603/ep.97567","DOIUrl":"10.5603/ep.97567","url":null,"abstract":"<p><strong>Introduction: </strong>Thyroid carcinoma is the most frequent malignancy among endocrine-related tumours. Papillary thyroid carcinoma (PTC) is the main type of thyroid carcinoma, and almost 80% cases of thyroid carcinoma are diagnosed as PTC. The molecular mechanism underlying PTC progression is unclear. This study aims to investigate the potential mechanisms of zinc finger antisense 1 (ZFAS1) function in PTC.</p><p><strong>Material and methods: </strong>The expression of ZFAS1 and p53 was determined by quantitative polymerase chain analysis (qPCR) in PTC tissues derived from 20 PTC patients. Quantitative chromatin immunoprecipitation assay (qChIP) analysis was performed to validate the target of ZFAS1/p53 and miRNAs/p53. The Gene Expression Omnibus (GEO) dataset GSE94908 was analysed to obtain the differentially expressed p53-associated microRNAs (miRNAs). Luciferase assay validated the target of ZFAS1/miRNAs, and 3-(4,5-Dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay was used to determine the cell proliferation.</p><p><strong>Results: </strong>The expression of ZFAS1 was up-regulated in the tissues derived from PTC patients, and the expression of ZFAS1 was negatively associated with p53 expression in PTC. The expression of ZFAS1 was significantly higher in the MDA-T120 cells harbouring mutant p53. We validated that ZFAS1 is a direct target of p53. In PTC cells, p53 directly repressed the ZFAS1 expression. In addition, we determined that miR-135b-5p and miR-193a-3p are directly induced by p53 in PTC cells. Interestingly, p53-targeted miR-135b-5p, miR-193a-3p, and miR-34b repressed the expression of ZFAS1 via the seed-matching sequences in the 3'-untranslated region (3'-UTR) of ZFAS1, and thereby suppressed PTC cell proliferation induced by ZFAS1.</p><p><strong>Conclusion: </strong>The oncogenic lncRNA ZFAS1 is directly repressed by p53 in PTC. p53-mediated miRNAs including miR-135b 5p, miR-193a-3p, and miR-34b repress ZFAS1 expression, and thereby inhibit the proliferation of PTC.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"75 1","pages":"12-19"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140144935","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":"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}