EndocrinePub Date : 2025-04-04DOI: 10.1007/s12020-025-04218-7
Abdullah Nadeem, Tasmiyah Siddiqui, Taruba Rais, Omer Bin Khalid Jamil, Afsheen Khan, Rumaisa Riaz, Tehreem Fatima, Maimoona Khan, Hasan Mushahid, Um E Abiha Batool, Ajeet Singh, Minahil Aamir
{"title":"Radiofrequency ablation versus laparoscopic adrenalectomy for aldosterone-producing adenomas: a systematic review and meta-analysis.","authors":"Abdullah Nadeem, Tasmiyah Siddiqui, Taruba Rais, Omer Bin Khalid Jamil, Afsheen Khan, Rumaisa Riaz, Tehreem Fatima, Maimoona Khan, Hasan Mushahid, Um E Abiha Batool, Ajeet Singh, Minahil Aamir","doi":"10.1007/s12020-025-04218-7","DOIUrl":"https://doi.org/10.1007/s12020-025-04218-7","url":null,"abstract":"<p><strong>Purpose: </strong>To compare the clinical effectiveness and safety of radiofrequency ablation (Ablation) and laparoscopic adrenalectomy (LA) for treating patients with aldosterone-producing adenomas (APA).</p><p><strong>Methods: </strong>A comprehensive literature search was conducted using multiple databases from inception to April 2024. Randomized controlled trials and retrospective studies comparing Ablation and LA for APA were included. Data on efficacy, safety, and other relevant outcomes were extracted and pooled using random-effects meta-analysis. Quality assessment was performed using the Newcastle-Ottawa Scale.</p><p><strong>Results: </strong>Ten studies with 887 patients (414 in the Ablation group, 473 in the LA group) were included. Pooled analysis showed comparable clinical success rates (74.2% in Ablation vs. 82% in LA, p = 0.52) but a significantly higher rate of hypertension crises in the Ablation group (16.4 vs. 3%, p < 0.0001). Resolution of hypertension was more frequent in the LA group (44 vs. 27.2%, p = 0.003). Ablation was associated with lower intraoperative blood loss and shorter hospital stays. Still, no significant differences were found in the resolution of primary aldosteronism, complication rates, blood pressure reduction, or medication usage.</p><p><strong>Conclusions: </strong>Both Ablation and LA demonstrate comparable efficacy in treating APA, with Ablation offering advantages in terms of lower intraoperative blood loss and shorter hospital stay. However, Ablation may be associated with a higher rate of hypertension crises during the procedure. The results suggest that Ablation is not yet a substitute for LA. A personalized approach considering patient-specific factors and institutional expertise is warranted when selecting the appropriate treatment.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781804","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 : 2025-04-03DOI: 10.1007/s12020-025-04214-x
Elisa Lamback, Aline Helen da Silva Camacho, Anna Clara Castro Araujo, Luiz Eduardo Wildemberg, Ferdinand Duenas Cabrera Filho, Felipe Andreiuolo, Leandro Kasuki, Nina Ventura, Leila Chimelli, Mônica R Gadelha
{"title":"TTF1-positive posterior pituitary tumors: a single-center experience of 10 years.","authors":"Elisa Lamback, Aline Helen da Silva Camacho, Anna Clara Castro Araujo, Luiz Eduardo Wildemberg, Ferdinand Duenas Cabrera Filho, Felipe Andreiuolo, Leandro Kasuki, Nina Ventura, Leila Chimelli, Mônica R Gadelha","doi":"10.1007/s12020-025-04214-x","DOIUrl":"https://doi.org/10.1007/s12020-025-04214-x","url":null,"abstract":"<p><strong>Purpose: </strong>Primary TTF1-positive posterior pituitary tumors (PPT) are uncommon and frequently misdiagnosed preoperatively. This study aims to describe our experience with PPT, examining clinical, radiological and histopathological data, as well as surgical and clinical outcomes.</p><p><strong>Methods: </strong>We conducted a retrospective review of medical records from patients treated at a single neurosurgical center between 2013 and 2023. Immunohistochemistry for TTF-1 was performed using AB_1158934.</p><p><strong>Results: </strong>Nine PPT were included: 6 spindle cell oncocytomas (SCO), 2 granular cell tumor (GCT) and 1 pituicytoma. The median age was 53 years (range 34-70), with six (66.7%) patients being male. Most patients presented preoperatively with panhypopituitarism (8 cases), visual impairment (7 cases) and headache (7 cases). The median largest tumor diameter of 2.7 cm (range 1.7-5.4 cm) and PPT appeared isointense on T1W. SCO typically manifested as large intrasellar tumors with suprasellar extension and pronounced contrast-enhancement. GCT and pituicytoma were predominantly suprasellar lesions, with GCT showing a characteristic \"star-like crack\" pattern. Surgical outcomes varied, with the minority of successful cases involving SCO, known for their hypervascularity and firm consistency.</p><p><strong>Conclusion: </strong>PTT constituted 0.6% of sellar/suprasellar surgeries at our center. SCO should be suspected if a large and significant contrast-enhancement lesion is seen, and GCT if there is a suprasellar tumor with a \"star-like crack\" pattern. Surgical outcomes were not favorable: the majority of cases showed subtotal resection requiring adjuvant radiotherapy. Long-term follow-up is crucial due to the limited curative outcomes observed in most patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774811","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 : 2025-04-02DOI: 10.1007/s12020-024-04156-w
Mayte Alvarez-Crespo, Manuel Gil-Lozano, Yolanda Diz-Chaves, Lucas Carmelo González-Matias, Federico Mallo
{"title":"Elevation of ghrelin by B-adrenergic activation is independent of glucose variations and feeding regimen in the rat.","authors":"Mayte Alvarez-Crespo, Manuel Gil-Lozano, Yolanda Diz-Chaves, Lucas Carmelo González-Matias, Federico Mallo","doi":"10.1007/s12020-024-04156-w","DOIUrl":"https://doi.org/10.1007/s12020-024-04156-w","url":null,"abstract":"<p><p>Ghrelin is a signal involved in the initiation of meals in rodents and humans. Circulating ghrelin levels are elevated before mealwes and reduced after food intake. Several factors have been identified as effective modulators of ghrelin levels. Vagal activation reduced ghrelin in rats, as well as oral carbohydrate and lipid administration in rats and humans. Some hormones, such as incretins, also reduce ghrelin: GLP-1 reduced ghrelin in humans, and Ex4, a GLP-1 receptor agonist, potently inhibited ghrelin in rodents. On the other hand, fasting promotes increases in ghrelin that anticipate the start of meals. We report that beta-adrenergic activation with isoproterenol promotes large acute elevations of circulating ghrelin levels, both in anesthetized and conscious freely-moving rats, either on \"ad libitum\" feeding or on a fasting regimen.These effects are dose-dependent, caused by intravenous, intraperitoneal, and oral administration, and independent of variations in glucose levels. Pharmacological modulation of β1 and β2 adrenergic receptors with specific agonists and antagonists showed that ghrelin increases are stimulated by β1-adrenergic activation, but also partially by β2-adrenergic activation, suggesting that activation of both is necessary to elicit complete ghrelin elevations. Meanwhile, glucose increases dependent on adrenergic activation appear to be mediated only by β2-adrenergic receptors. In addition, the effects of isoproterenol on increasing ghrelin levels are potent enough to overcome the marked inhibition exerted by exendin-4 that we have previously demonstrated. We also found that administration of isoproterenol in drinking water increases basal ghrelin levels and simultaneous food intake in animals eating ad libitum. Beta-adrenergic activation promotes increases in ghrelin levels in vivo prior to food intake, both in rats eating ad libitum and in fasting rats that already have elevated ghrelin levels, in a time- and dose-dependent manner. In addition, the effects of isoproterenol on increasing ghrelin levels are potent enough to overcome the marked inhibition exerted by exendin-4 that we have previously demonstrated. We also found that administration of isoproterenol in drinking water increases basal ghrelin levels and simultaneous food intake in animals eating ad libitum. Beta-adrenergic activation promotes increases in ghrelin levels in vivo prior to food intake, both in eating ad libitum and in fasting rats that already have elevated ghrelin levels, in a time- and dose-dependent manner.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765562","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 : 2025-04-02DOI: 10.1007/s12020-025-04220-z
Milena S Almeida, Mariele P Sanches, Natália S Tonet, Carine Zuglianello, Joseane Morari, Licio A Velloso, Elenara Lemos-Senna, Alex Rafacho
{"title":"Intranasal pramlintide matches intraperitoneal effects on food intake and gastric emptying in mice.","authors":"Milena S Almeida, Mariele P Sanches, Natália S Tonet, Carine Zuglianello, Joseane Morari, Licio A Velloso, Elenara Lemos-Senna, Alex Rafacho","doi":"10.1007/s12020-025-04220-z","DOIUrl":"https://doi.org/10.1007/s12020-025-04220-z","url":null,"abstract":"<p><strong>Purpose: </strong>Pramlintide is an amylin analog developed as a complementary treatment for diabetes. However, it requires several subcutaneous injections, reducing patients' adherence. Since the intranasal route might be an alternative for drug administration, we evaluated whether intranasal pramlintide treatment exerts comparable actions with intraperitoneal administration.</p><p><strong>Methods: </strong>Adult male Swiss mice were submitted to a refeeding test in a dose-response study with intraperitoneal (PRAM i.p.) or intranasal (PRAM i.n.) pramlintide administration. Intraperitoneal liraglutide served as a positive control (LIRA). Then, the selected dose was administered to analyze gastric emptying after an acute exposure. We also evaluated an 8-day treatment (once daily) to determine food intake and body mass. Blood glucose and plasma triacylglycerides were measured on the euthanasia day.</p><p><strong>Results: </strong>In the refeeding test, the anorexigenic dose for the PRAM i.p. or LIRA i.p groups was 200 µg/kg and 400 µg/kg, respectively. The PRAM i.n. group (200 µg/kg) exhibited a trend for that. The reduction in gastric emptying occurred for all treated groups compared with their respective controls (vehicle-treated). Neither the PRAM i.p. nor the PRAM i.n. groups exhibited reduced body mass and food intake in the subchronic experiment. No impact on biochemical parameters was observed regardless of the route of pramlintide administration.</p><p><strong>Conclusion: </strong>Although intranasal pramlintide is not comparable in magnitude to intraperitoneal administration at an equivalent administered dose, our evidence corroborates the development of novel intranasal formulations destined to overpass the bioavailability issue and potentially serve as an alternative route.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765564","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 : 2025-04-02DOI: 10.1007/s12020-025-04211-0
Maria Vittoria Messina, Paolo Pozzilli
{"title":"An estimated prevalence of goiter in the 15th century.","authors":"Maria Vittoria Messina, Paolo Pozzilli","doi":"10.1007/s12020-025-04211-0","DOIUrl":"https://doi.org/10.1007/s12020-025-04211-0","url":null,"abstract":"","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765559","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 : 2025-04-01Epub Date: 2024-10-25DOI: 10.1007/s12020-024-04084-9
Elisa Gatta, Salvatore Ippolito, Carlo Cappelli
{"title":"Combined LT3 and LT4 therapy for precision medicine: easier with TTCombo system.","authors":"Elisa Gatta, Salvatore Ippolito, Carlo Cappelli","doi":"10.1007/s12020-024-04084-9","DOIUrl":"10.1007/s12020-024-04084-9","url":null,"abstract":"<p><p>Hypothyroidism is typically treated with levothyroxine monotherapy. However, despite normalized serum thyroid-stimulating hormone levels, 5-10% of patients continue to experience persistent symptoms, raising concerns about the adequacy of thyroxine monotherapy. Combination therapy with levothyroxine and liothyronine has been proposed as an alternative, but it presents practical challenges, including dosing complexity, the short half-life of triiodothyronine, increased monitoring requirements, and potential adverse effects. Moreover, there is no clear consensus within the medical community regarding the superiority of combination therapy over levothyroxine monotherapy, although some studies indicate potential benefits in specific patient populations. Genetic factors, such as polymorphisms in the DIO2 gene, may influence individual responses to therapy, further complicating treatment. To address the limitations of combination therapy, we propose a novel approach: TTCombo. This digital health technology delivers personalized doses of levothyroxine and liothyronine, improving treatment adherence and optimizing outcomes. By providing individualized, physiologically tailored hormone replacement, TTCombo has the potential to revolutionize hypothyroidism management and enhance patient quality of life.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"75-79"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142511439","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":"Timing of meal replacement on body weight: a multicenter open-labeled randomized trial.","authors":"Jialu Wang, Yi Xiang, Zhiqi Chen, Wenyi Lu, Yiquan Zhou, Xiaomeng Mao, Molian Tang, Jing Zou, Anqi Song, Qingya Tang, Renying Xu","doi":"10.1007/s12020-024-04118-2","DOIUrl":"10.1007/s12020-024-04118-2","url":null,"abstract":"<p><strong>Purpose: </strong>We aim to evaluate the effects of partial meal replacement (MR) with different timing of MR on body weight in Chinese adults.</p><p><strong>Methods: </strong>A multicenter open-labeled, randomized, parallel study was performed. Participants were randomly assigned to receive partial MR at breakfast and lunch or breakfast and dinner for 16 weeks. The primary outcome was the absolute change in body weight between baseline and the end of the intervention. The BMI of participants is between 24.0 kg/m<sup>2</sup> and 35.0 kg/m<sup>2</sup>, without a history of diabetes, hypertension, or gout, and whose baseline blood pressure, fasting blood glucose, serum level of glycated hemoglobin A1c, uric acid, and liver enzymes within the pre-determined range, were recruited.</p><p><strong>Results: </strong>A total number of 153 individuals were included in the analysis (106 females and 47 males; mean age 32.6 ± 6.7 years, mean BMI 28.5 ± 2.8 kg/m<sup>2</sup> at baseline). Partial MR for 16 weeks resulted in significant body weight loss (-5.1 kg, 95% CI: -5.8, -4.5 kg), decrease of waist (-4.8 cm; 95% CI: -5.5 cm, -4.1 cm) and hip circumference (-4.3 cm; 95% CI: -4.9 cm, -3.8 cm), and loss of body fat (-4.1 kg; 95% CI: -4.7 kg, -3.6 kg). About half of the participants (51.6%) achieved the goal of losing 5% of baseline body weight or more. Timings of MR (breakfast and lunch vs. breakfast and dinner) generated similar results.</p><p><strong>Conclusion: </strong>Partial MR resulted in significant improvements in anthropometric data, body fat, and most metabolic variables while different MR timing generated similar results.</p><p><strong>Trial registration: </strong>The study was registered at https://www.chictr.org.cn/showproj.html?proj=47475 (ChiCTR2100042637).</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"91-98"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752112","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 : 2025-04-01Epub Date: 2024-11-28DOI: 10.1007/s12020-024-04116-4
Feifan Sun, Chenxing Ji, Xiang Zhou, Yichao Zhang, Haixia Cheng, Zhao Ye
{"title":"Targeting RACGAP1 suppresses growth hormone pituitary adenoma growth.","authors":"Feifan Sun, Chenxing Ji, Xiang Zhou, Yichao Zhang, Haixia Cheng, Zhao Ye","doi":"10.1007/s12020-024-04116-4","DOIUrl":"10.1007/s12020-024-04116-4","url":null,"abstract":"<p><strong>Purpose: </strong>Growth hormone pituitary adenoma (GHPA) is a major subtype of pituitary adenoma (PA), with tumor enlargement and abnormal secretion of growth hormone (GH) often causing complications. Rac GTPase-activating protein 1 (RACGAP1), a member of the guanine triphosphatase-activating protein family, is highly overexpressed in multiple tumors and promotes tumor growth. However, the role of RACGAP1 in GHPA remains unelucidated. Besides, specific inhibitors targeting RACGAP1 have not yet been developed. In this study, we aimed to determine the expression and function of RACGAP1 in GHPA and identify effective inhibitors against RACGAP1.</p><p><strong>Methods: </strong>Immunohistochemistry was used to detect the expression of RACGAP1 in GHPA and normal pituitary tissues. The effect of RACGAP1 on cell proliferation, apoptosis, and cell cycle was evaluated by knockdown of RACGAP1 in GH3 cells in vitro and xenograft models of GHPA in vivo. The downstream mechanism of RACGAP1 was explored by RNA sequencing, bioinformatic analysis, and Western blot. Inhibitors targeting RACGAP1 were screened and verified through a structure-based virtual docking method, cell viability assays, and surface plasmon resonance (SPR) experiments.</p><p><strong>Results: </strong>RACGAP1 expression was increased in GHPA compared with normal pituitary tissues. Knocking down RACGAP1 suppressed cell growth in vitro and in vivo. Preliminary mechanism studies indicated that inhibition of RACGAP1 led to the upregulation of p21 and the downregulation of several genes involved in the cell cycle signaling pathway, such as Cyclin A, CDK1, and CDK2. Moreover, DB07268 was identified for the first time as an effective RACGAP1 inhibitor that could prominently restrain the proliferation of GH3 cells.</p><p><strong>Conclusion: </strong>This study demonstrates that RACGAP1 plays a critical role in GHPA, highlighting the novel inhibitor DB07268 as a promising therapeutic approach.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"234-248"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741112","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 : 2025-04-01Epub Date: 2025-02-06DOI: 10.1007/s12020-024-04097-4
R Chimenz, C Columbu, F Pugliese, A Arena, L Bonifazi Meffe, V Carbone, D Concolino, L di Filippo, C Eller-Vainicher, R Fischetto, A F Giannotta, A Giustina, G Gori, A Lampis, L Monti, A M Naciu, A Palermo, O Palumbo, R Pracella, I Rutigliano, M Sacco, A S Salcuni, S Sestito, G Tabacco, G Vinci, M Castori, A Scillitani, V Guarnieri
{"title":"Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.","authors":"R Chimenz, C Columbu, F Pugliese, A Arena, L Bonifazi Meffe, V Carbone, D Concolino, L di Filippo, C Eller-Vainicher, R Fischetto, A F Giannotta, A Giustina, G Gori, A Lampis, L Monti, A M Naciu, A Palermo, O Palumbo, R Pracella, I Rutigliano, M Sacco, A S Salcuni, S Sestito, G Tabacco, G Vinci, M Castori, A Scillitani, V Guarnieri","doi":"10.1007/s12020-024-04097-4","DOIUrl":"10.1007/s12020-024-04097-4","url":null,"abstract":"<p><strong>Purpose: </strong>Rickets is a rare bone disorder due to altered calcium, vitamin D, and phosphorus metabolism, caused by nutritional deficiencies or, in 13% of cases, genetic origin. Few data are available on an Italian cohort of rickets.</p><p><strong>Methods: </strong>Twenty-four patients with confirmed low serum phosphorus levels and reduced renal tubular phosphate reabsorption were recruited from different tertiary care centres over the last 5 years. Biochemical, clinical, and anamnestic data were also collected. DNA was extracted and subjected to targeted next-generation sequencing.</p><p><strong>Results: </strong>Twenty-four single-nucleotide variants were identified in the PHEX (eight pathogenic, five likely pathogenic, three variants of uncertain significance), CYP27B1 (two pathogenic, four likely pathogenic), and SLC34A3 (one pathogenic, one likely pathogenic) genes. Five large genomic deletions involving one or more PHEX exons were detected. Eight of 20 PHEX and both SLC34A3 variants were novel, and segregation analysis identified 11 familial and three de novo cases. Biochemical data confirmed high serum alkaline phosphatase and low 25-hydroxyvitamin D<sub>3</sub> levels, whereas the main clinical manifestations were short stature (76.1%), bone deformities (85.7%), musculoskeletal pain (71.4%), and muscle weakness (55.5%).</p><p><strong>Conclusions: </strong>Our study provides clinical and genetic descriptions of rickets in a cohort of Italian patients. Moreover, we expanded the spectrum of mutations associated with the genetic forms of this disorder and suggested a high-throughput sequencing approach to provide a molecular diagnosis for adequate follow-up of patients.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"285-294"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366744","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":"Contribution of neck ultrasonography to patient management in patients with differentiated thyroid carcinoma with excellent response to therapy.","authors":"İlhan Hekimsoy, Mertcan Güven, Recep Halit Tokaç, Gülgün Kavukçu, Ayşegül Akgün","doi":"10.1007/s12020-024-04147-x","DOIUrl":"10.1007/s12020-024-04147-x","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the contribution of intense neck ultrasonography (US) follow-up in the clinical management of differentiated thyroid carcinoma (DTC) patients with the American Thyroid Association (ATA) low-intermediate-risk of recurrence and an excellent response after total thyroidectomy and radioiodine therapy.</p><p><strong>Materials and methods: </strong>Medical records of patients who underwent serial follow-up neck US examinations between 1996 and 2022 were analyzed retrospectively. The utility of serial US examinations in detecting structural recurrence was assessed in all patients and different subgroups-categorized per the initial risk of recurrence and stimulated thyroglobulin (sTg) level at 1-year response assessment.</p><p><strong>Results: </strong>Among 2823 US examinations in 296 patients, 2 (0.1%) were categorized as true-positive, 2670 (94.6%) as true-negative, and 151 (5.3%) as false-positive, whereas no false-negative results were observed. Thus, sensitivity, specificity, positive predictive value (PPV), negative predictive value, and accuracy [confidence interval] in all patients were 100% [34.2-100%], 94.7% [93.8-95.4%], 1.3% [0.36-4.6%], 100% [99.9-100%], and 94.7% [93.8-95.4%], respectively. Non-significant higher PPVs were calculated in intermediate-risk patients and patients having sTg ≥0.1 ng/mL, while slightly lower specificity and accuracy were demonstrated in the former group. No recurrence was identified in patients with a low risk of recurrence and those having sTg <0.1 ng/mL.</p><p><strong>Conclusion: </strong>Frequent US examination yields remarkably low PPVs in identifying recurrences in ATA low-intermediate-risk patients with DTC and attaining excellent response after total thyroidectomy and radioiodine ablation. Therefore, US surveillance protocol should be individualized per the initial risk of recurrence and Tg levels at response assessment.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"135-142"},"PeriodicalIF":3.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142911060","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}