Search Results (143)

Acromegaly is caused by an excessive secretion of growth hormone and the secondary elevation of IGF-1 levels, leading to progressive changes in multiple body systems, including the craniofacial region and oral cavity. Dental manifestations such as mandibular overgrowth, macroglossia, malocclusion, periodontal disease, and prosthetic difficulties represent not only a clinical component of the disease but also a significant therapeutic and diagnostic challenge. The aim of this review is to present the current state of knowledge on the relationship between acromegaly and oral health and to analyze the role of interdisciplinary collaboration between endocrinologists and dentists in patient care. For this narrative review, a literature search was conducted in the PubMed, Scopus, and Web of Science databases covering the period from 2000 to 2025. Sixty-two peer-reviewed publications meeting the methodological and thematic criteria were included in the analysis, including original studies, meta-analyses, systematic reviews, and case reports. The results indicate significant correlations between disease activity and the severity of periodontal and microbiological changes, while effective endocrine treatment only results in the partial regression of morphological changes. Particular attention was given to the role of the dentist in recognizing the early symptoms of the disease, planning prosthetic and surgical treatment, and monitoring therapy-related complications. Interdisciplinary collaboration models, including integrated clinics and co-managed care, were also described as optimal systemic solutions for improving treatment quality. The conclusion drawn from the analysis are as follows: there is a need for the permanent integration of dentistry into the standard of interdisciplinary care for patients with acromegaly, in both diagnostic and therapeutic dimensions. Increasing awareness among dentists and developing integrated collaboration models may reduce the time to diagnosis, improve patients’ quality of life, and enable the more effective management of craniofacial complications in the course of this rare disease. Full article

When non-functioning pituitary adenomas (NFPAs) behave aggressively or recur after first-line surgical treatment, it can be challenging to decide whether and how to escalate therapy. Up to 47% of patients with residual tumor after transsphenoidal surgery will show disease recurrence or progression and may require an intervention. Repeat surgical resection can be attempted in select cases if the tumor is accessible; for the remainder of patients, non-surgical treatment options may need to be considered. Radiotherapy can control tumor growth in 75% of NFPAs, but confers increased risk of hypopituitarism and other disorders. Currently, there are no medical therapies approved for patients with recurrent or aggressive NFPA. However, several have been investigated, including temozolomide, somatostatin receptor ligands, dopamine agonists, immune checkpoint inhibitors, vascular endothelial growth factor inhibitors, and peptide receptor radionuclide therapy. We present a review of the available evidence to provide guidance for pituitary endocrinologists and neuro-oncologists when treating patients with recurrent or aggressive NFPA. Full article

Primary hyperparathyroidism is commonly caused by parathyroid adenomas, hyperplasia, or, rarely, carcinoma. In up to 20% of cases, parathyroid tissue may be ectopic, often located in the mediastinum due to aberrant embryologic migration. Ectopic parathyroid glands pose a diagnostic and therapeutic challenge, and an accurate preoperative localization is essential for an effective and safe resection. Imaging modalities such as CT scan, TC-sestamibi scintigraphy, PET/CT, ultrasonography and MRI are routinely employed, whereas combined techniques offer improved diagnostic accuracy. Emerging approaches, however, including PET/CT with choline tracers, have shown promise in enhancing sensitivity in complex or recurrent cases. When ectopic glands are in the mediastinum, thoracic surgical intervention is required. Traditional open approaches, such as sternotomy or thoracotomy, are associated with significant morbidity. The development and evolution of minimally invasive surgery (MIS) has become the preferred approach in selected cases. When MIS is performed, intraoperative assessment and parathyroid identification are crucial to ensure complete gland removal. Intraoperative parathyroid hormone (ioPTH) monitoring provides real-time confirmation of surgical success. The integration of advanced imaging, intraoperative monitoring, and minimally invasive techniques significantly improves surgical outcomes while minimizing complications and accelerating patient recovery. Ultimately, the effective treatment of ectopic parathyroid glands relies on a personalized approach, adapting both diagnostic and surgical strategies to the unique anatomical and clinical context of each patient. Integration of advanced imaging, intraoperative monitoring, and minimally invasive techniques, combined with a multidisciplinary team involving endocrinologists, radiologists, and thoracic surgeons, is key to optimizing outcomes and reducing patient morbidity. Full article

The impact of work engagement and burnout on medical activities, physicians’ performance, and quality of care has gained interest over the last decades. However, the effect of demographics, job-related, and organizational variables on burnout and work engagement in young endocrinologists has not been fully investigated. To assess the impact of demographics, job-related, and organizational variables on burnout and work engagement in young endocrinologists who joined the Italian Association of Clinical Endocrinologists. The levels of burnout and work engagement were assessed by the Maslach Burnout Inventory and the Utrecht Work Engagement Scale, respectively, as a part of an online survey of the “Associazione Medici Endocrinologi” addressed to young members (31–40 years). Eighteen MANOVAs were applied to analyze differences in burnout and work engagement based on demographic, job-related, and organizational factors. We collected responses from 160 young endocrinologists, mainly women (80.6%), aged 31–35 years (33.8%) and 36–40 years (66.2%). Most were in a stable relationship with (40%) or without (45%) children. Most of them worked in hospitals or local healthcare districts (35.6%), as independent contractors (31.9%), or as Ph.D. students or residents (25.6%). Multivariate analyses found no statistically significant differences in burnout and work engagement due to demographics (gender, age, and partnership) and job-related variables (type of job and contract). On the other hand, organizational variables (levels of conflict amongst colleagues, more than expected time spent working, and no involvement in team-building activities) were associated with higher emotional exhaustion, lower dedication, and less vigor. The novelty of the study is that both burnout and work engagement can be affected by organizational variables in early-career Italian endocrinologists, highlighting the need for supporting the healthcare system to overcome this gap. Full article

Background/Objectives: Skeletal dysplasias are a heterogeneous group of rare genetic disorders with diverse and overlapping clinical presentations, posing diagnostic challenges even for experienced clinicians. With the increasing availability of artificial intelligence (AI) in healthcare, large language models (LLMs) offer a novel opportunity to assist in rare disease diagnostics. This study aimed to compare the diagnostic accuracy of two advanced LLMs, ChatGPT (version GPT-4) and DeepSeek, with that of a clinical expert panel in a cohort of pediatric patients with genetically confirmed skeletal dysplasias. Methods: We designed a prospective vignette-based diagnostic benchmarking study including 45 children with confirmed skeletal dysplasias from two tertiary centers. Both LLMs were prompted to provide primary and differential diagnoses based on standardized clinical case vignettes. Their outputs were compared with those of two human experts (a pediatric endocrinologist and a pediatric orthopedic surgeon), using molecular diagnosis as the gold standard. Results: ChatGPT and DeepSeek achieved a comparable diagnostic top-3 accuracy (62.2% and 64.4%, respectively), with a high intermodel agreement (Cohen’s κ = 0.95). The expert panel outperformed both models (82.2%). While LLMs performed well on more common disorders, they struggled with ultra-rare and multisystemic conditions. In one complex case missed by experts, the DeepSeek model successfully proposed the correct diagnosis. Conclusions: LLMs offer a complementary diagnostic value in skeletal dysplasias, especially in under-resourced medical settings. Their integration as a supportive tool in multidisciplinary diagnostic workflows may enhance early recognition and reduce diagnostic delays in rare disease care. Full article

Background: Adrenal incidentalomas are detected in various medical and surgical healthcare departments, including primary healthcare. One up to three out of ten individuals confirmed with nonfunctioning adrenal incidentalomas (NFAs) actually present a mild autonomous cortisol secretion (MACS), which is distinct from Cushing’s syndrome. Objective: We aimed to assess the cortisol secretion in newly detected adrenal incidentalomas in patients who were referred by their primary healthcare physician upon accidental detection of an adrenal tumor at abdominal computed tomography (CT) scan that was performed for unrelated (non-endocrine) purposes. Methods: This retrospective study included adults diagnosed with an adrenal incidentaloma via CT during the previous 3 months. Inclusion criteria: age ≥ 40 years (y). A triple stratification of exclusion criteria involved: (1) Clinical aspects and medical records such as active malignancies or malignancies under surveillance protocols, subjects under exogenous glucocorticoid exposure (current or during the previous year), or suggestive endocrine phenotypes for any hormonal ailment; (2) Radiological appearance of suspected/confirmed (primary or secondary) adrenal malignancy, adrenal cysts, or myelolipomas; (3) Endocrine assays consistent with active endocrine tumors. Protocol of assessment included baseline ACTH, morning plasma cortisol (C-B), cortisol at 6 p.m. (C-6 pm), and after 1 mg dexamethasone suppression testing (C-1 mg-DST), 24-h urinary free cortisol (UFC), and a second opinion for all CT scans. MACS were defined based on C-1 mg-DST ≥ 1.8 and <5 µg/dL (non-MACS: C-1 mg-DST < 1.8 µg/dL). Results: The cohort (N = 60, 78.33% female; 60.72 ± 10.62 y) associated high blood pressure (HBP) in 66.67%, respectively, type 2 diabetes (T2D) in 28.37% of the patients. Females were statistically significantly older than males (62.40 ± 10.47 vs. 54.62 ± 9.11 y, p = 0.018), while subjects with unilateral vs. bilateral tumors (affecting 26.67% of the individuals) and those with MACS-positive vs. MACS-negative profile had a similar age. Body mass index (BMI) was similar between patients with unilateral vs. bilateral incidentalomas, regardless of MACS. Patients were divided into five age groups (decades); most of them were found between 60 and 69 years (40%). Left-gland involvement was found in 43.33% of all cases. The mean largest tumor diameter was 26.08 ± 8.78 mm. The highest rate of bilateral tumors was 46.67% in the 50–59 y decade. The rate of unilateral/bilateral and tumor diameters was similar in females vs. males. The MACS-positive rate was similar in females vs. males (23.40% vs. 23.08%). A statistically significant negative correlation (N = 60) was found between BMI and C-B (r = −0.193, p = 0.03) and BMI and UFC (r = −0.185, p = 0.038), and a positive correlation was found between C-B and C-6 pm (r = 0.32, p < 0.001), C-B and UFC (r = 0.226, p = 0.011), and C-6 pm and C-1 mg-DST (r = 0.229, p = 0.010), and the largest tumor diameter and C-1 mg-DST (r = 0.241, p = 0.007). Conclusions: Adrenal incidentalomas belong to a complex scenario of detection in the modern medical era, requiring a multidisciplinary collaboration since the patients might be initially detected in different departments (as seen in the current study) and then referred to primary healthcare for further decision. In these consecutive patients, we found a higher female prevalence, a MACS rate of 23.33%, regardless of uni/bilateral involvement or gender distribution, and a relatively high rate (than expected from general data) of bilateral involvement of 26.67%. The MACS-positive profile adds to the disease burden and might require additional assessments during follow-up and a protocol of surveillance, including a tailored decision of tumor removal. The identification of an adrenal incidentaloma at CT and its hormonal characterization needs to be integrated into the panel of various chronic disorders of one patient. The collaboration between endocrinologists and primary healthcare physicians might improve the overall long-term outcomes. Full article

Optimized glycemic management is crucial for controlling atherosclerosis and consequent cardiovascular morbidity in patients with diabetes. Due to the continuous glucose burden from glucose-containing peritoneal dialysis (PD) solutions, PD patients with diabetes experience difficulties in glucose level regulation with glucose hypervariability and worsening dyslipidemia. Even in non-diabetic PD patients, glucose-containing PD solutions aggravate insulin resistance and cause overweight. Additionally, glucose degradation products (GDP) from glucose-based PD solutions provoke oxidative stress and complex inflammatory processes, leading to chronic deleterious and fibrotic peritoneal membrane changes. In this narrative review, we searched the literature using PubMed, MEDLINE, and Google Scholar over the last three decades to summarize the most important facts relevant to the presented issues, aiming to inform both endocrinologists and nephrologists in providing the best currently available care for people with diabetes on PD. We not only focus on adequate tailoring of insulin therapy adapted at the time of PD exchange with hypertonic glucose solution., but also emphasize the use of continuous glucose monitoring (CGM) that allows assessment of mean glucose values and time spent in normal, hypo, and hyperglycemia. However, the routine use of CGM in PD patients is limited due to high cost, and hemoglobin A1c (HbA1c) analysis is still recommended as a basic clinical tool for the assessment of glycemic control. Possible choices of antidiabetic drugs were considered given the narrowed choice due to contraindications for metformin and sulfonylurea. The other important therapeutic approach in PD patients with diabetes is using glucose-sparing PD regimens based on icodextrin and amino acid PD solutions with the addition of just one or two bags of low glucose concentration PD solution daily. This glucose-sparing approach not only reduces the glucose load and improves glycoregulation with correction of the lipid profile but also maintains the viability of the peritoneal membrane by reducing the harmful effects of GDPs. Full article

Background/Objectives: Knowledge about the relationship between diabetes and periodontitis is lacking in individuals diagnosed with type I diabetes. To enhance oral health and reduce the risk of oral diseases, healthcare professionals, both dentists and endocrinologists, should educate and motivate patients to treat periodontitis and its complications as soon as possible. The aim of this study was to assess the knowledge of type I diabetic patients about the relationship between periodontal disease and diabetes. Methods: A cross-sectional, single-center study was carried out on 80 patients from the Tâmega and Sousa Hospital Center, who were administered a questionnaire before they underwent an oral clinical examination. The data were analyzed using the chi-square test and independent t-test. Results: All participants were aware of at least one of the problems associated with diabetes. Furthermore, 18.8% of the patients reported not receiving any advice from their dentist, and 31.4% stated that they had been informed of its importance. Regarding the diagnosis of diabetes, 87.5% of participants felt that dentists should be involved. Advanced age, lower education levels, and alcohol consumption were associated with a higher prevalence of periodontal disease (35.6%) (p < 0.05). Health practitioners should advise early periodontal disease diagnosis, treatment, and oral health education, particularly for people with type I diabetes. Conclusions: Factors, such as advanced age and lower education levels, were associated with a higher prevalence of periodontal disease. Although many patients recognize the relationship between diabetes and dental problems, most do not discuss this with their dentist. Full article

Objectives: This descriptive study aimed to explore self-stigma’s mediating effect on the association between self-efficacy and coping strategy among Korean patients with type 2 diabetes. Methods: This study included 189 participants with type 2 diabetes diagnosed by an endocrinologist. Data were collected from 1 November to 28 December 2023, using a self-report questionnaire focusing on self-efficacy, coping strategy, and self-stigma. The collected data were analyzed using descriptive statistics, independent sample t-test, one-way analysis of variance, Pearson’s correlation coefficient, and multiple regression analysis using SPSS; the mediating effect was examined using SPSS PROCESS Macro. Results: The mean self-efficacy, coping strategy, and self-stigma scores were 6.29 (±10.80), 2.84 (±0.54), and 2.72 (±0.82), respectively. Self-efficacy was negatively correlated with coping strategy (r = −0.52, p < 0.001) and self-stigma (r = −0.45, p < 0.001). Coping strategy was positively correlated with self-stigma (r = 0.78, p < 0.001). Further, self-stigma partially mediated the relationship between self-efficacy and coping strategy, accounting for 64.0% of the variance. Conclusions: These results suggest the importance of tailoring self-stigma reduction strategies to enable patients with diabetes to develop positive coping strategies. Moreover, incremental and tailored programs for reducing self-stigma must be developed. Full article

Background/aim: A growing body of evidence suggests a link between dyslipidemias and neurodegenerative diseases, highlighting the crucial role of lipid metabolism in the health of the central nervous system. The aim of our work was to provide an update on this topic, with a focus on clinical practice from an endocrinological point of view. Endocrinologists, being experts in the management of dyslipidemias, can play a key role in the prevention and treatment of neurodegenerative conditions, through precocious and effective lipid profile optimization. Methods: The literature was scanned to identify clinical trials and correlation studies on the association between dyslipidemia, statin therapy, and the following neurodegenerative diseases: Alzheimer’s disease (AD), Parkisons’s disease (PD), Multiple sclerosis (MS), and Amyotrophic lateral sclerosis (ALS). Results: Impaired lipid homeostasis, such as that frequently observed in patients affected by obesity and diabetes, is related to neurodegenerative diseases, such as AD, PD, and other cognitive deficits related to aging. AD and related dementias are now a real priority health problem. In the United States, there are approximately 7 million subjects aged 65 and older living with AD and related dementias, and this number is projected to grow to 12 million in the coming decades. Lipid-lowering therapy with statins is an effective strategy in reducing serum low-density lipoprotein cholesterol to normal range concentrations and, therefore, cardiovascular disease risk; moreover, statins have been reported to have a positive effect on neurodegenerative diseases. Conclusions: Several pieces of research have found inconsistent information following our review. There was no association between statin use and ALS incidence. More positive evidence has emerged regarding statin use and AD/PD. However, further large-scale prospective randomized control trials are required to properly understand this issue. Full article

Background and Objectives: Diabetes mellitus (DM) and hypertension (HTN) continue to increase and pose a significant burden on the health system worldwide. These patients comprise a significant portion of the hospitalized Oral and Maxillofacial Surgery (OMFS) department. Addressing and controlling DM and HTN during hospitalization should thus be one of the treatment goals. This study aims to investigate the management and outcomes of DM and HTN during the hospitalization period in the OMFS department. Materials and Methods: A retrospective analysis of patients with community-diagnosed DM and/or HTN admitted to the OMFS department between 2017 and 2019 was conducted at Rambam Healthcare Campus, Haifa, Israel. Linear regression analysis was used to determine trends in changes in blood pressure and blood glucose levels during hospitalization. The impact of consults from internal medicine experts and endocrinologists was tested using a paired-samples t-test. Results: A statistically significant reduction was observed in all systolic HTN patients categorized as stages 1 and 2, p = 0.012 and p = 0.001, respectively. A statistically significant (p = 0.012) reduction in blood glucose levels in all DM patients with initial values higher than 250 mg/dL was observed. A statistically significant reduction in blood glucose levels was observed in the DM group of patients who received endocrinologist consultations (p = 0.012). Conclusions: Addressing patients with systemic conditions during hospitalization in the OMFS department is mandatory. External medical consulting can be of great value for short-term treatment during hospitalization and may also have long-term benefits after discharge to the community. The main limitations of this study include retrospective data acquisition, a small sample size, and a lack of data regarding the impact of pain management on blood pressure and glucose levels. Full article

Background/Objectives: This study sought to identify key barriers to treatment adherence in children and adolescents with type 1 diabetes (T1D) using the Adherence Starts with Knowledge-12 (ASK-12) questionnaire and to evaluate its impact on metabolic control, providing insights for optimizing T1D management. Methods: A total of 160 children and adolescents with T1D aged 5–18 years who sought treatment from a pediatric endocrinology outpatient clinic between June and August in 2022 were prospectively examined. The patients’ low treatment adherence (LTA) or high treatment adherence (HTA) was determined based on their ASK-12 questionnaire scores. Two pediatric endocrinologists reviewed the participants’ medical records and then classified them into two groups: tight metabolic control and poor metabolic control. Results: LTA, which was determined based on the participants’ ASK-12 scores, was significantly associated with puberty, presence of diabetic ketoacidosis, and daily self-management (p < 0.001, p < 0.001, and p < 0.001, respectively). Those whose ASK-12 scores indicated LTA were older and had a longer duration of T1D, higher hemoglobin A1c levels, and lower BMI-SDS values than those with HTA) (p < 0.001, p < 0.001, p < 0.001, and p < 0.001, respectively). A total of 94 (59%) participants were indicated to have HTA, but 24 (25.5%) of them were found by the clinicians to have poor metabolic control. Conclusions: The ASK-12 questionnaire scores can identify pediatric patients with T1D who exhibit LTA and thus may be beneficial for early recognition of low adherence. Approximately 25% of the patients with ASK-12 scores indicating HTA were at risk of poor metabolic control. Puberty, duration of T1D, BMI-SDS, HbA1C, and parental involvement alongside ASK-12 score may be considered to improve treatment compliance. Integrating these variables into adherence assessments may enhance treatment compliance and improve long-term outcomes in pediatric T1D management. Full article

India’s population complexity presents varied challenges in genetic research, and while facilities have gained traction in tier-1 and -2 cities, reliance on international collaborations often delays such investigations. COVID-19 further exacerbated the issues with such sample sharing. Congenital Hyperinsulinism (CHI) is a rare genetic disorder of pancreatic β-cells causing hypoglycaemia in children due to abnormal insulin secretion. Given India’s high birth rate and consanguineous populations, annual CHI cases are estimated to be around up to 10,000, with up to 50% having unexplained genetic causes. Diffuse or atypical lesions in such patients often necessitate near-total-pancreatectomy, risking pancreatic exocrine insufficiency and diabetes, requiring lifelong therapy. Also, novel genetic variations complicate accurate diagnosis, risk assessment, and counselling, emphasising the need for rapid genetic assessment to prevent neurological injuries and inform treatment decisions. Despite significant efforts at many institutes, there are no dedicated organisations for CHI in India. With the implementation of the National Policy for Rare Diseases 2021, we plan to form a non-profit organisation, “Congenital Hyperinsulinism India Association (CHIA)”, comprising paediatric endocrinologists, paediatricians, geneticists, and independent researchers. The aims of this association are to generate a national database registry of patients, formulate a parent support group and CHIA consortium, design patient information leaflets, as well as foster genomic collaborations and promote clinical trials. Such steps will help sensitise the health authorities and policy makers, urging them to improve the allocation of health budgets for rare diseases, as well as empower patients and their families, contributing towards a better quality of life. Full article

(1) Background: Exploring real-world data (RWD) regarding immune-related adverse events (irAEs) is crucial to better understand the efficacy and safety of immunotherapy in cancer patient populations excluded from clinical trials. An analysis was conducted to evaluate the presumptive predictive causality between endocrine irAEs and the efficacy of immune check-point inhibitors (ICIs) in metastatic non-small-cell lung cancer (mNSCLC) patients treated in daily practice in Romania. (2) Methods: This was a retrospective cohort study of mNSCLC patients treated with ICIs in a tertiary level hospital in Romania for a period of almost seven years, from November 2017 till July 2024. Endocrine irAEs were well defined as any occurring autoimmune endocrinopathy during ICIs and related to immunotherapy. The hospital endocrinologist (M.C.C.O) diagnosed, treated, and followed these endocrine irAEs in a multidisciplinary approach. We investigated multiple medical variables to assess their impact on ICI effectiveness. Descriptive and statistical analyses were performed. (3) Results: Of 487 cancer patients treated with ICIs, we identified 215 mNSCLC patients who were evaluated for endocrine irAEs and co-medications during ICI therapy. Forty-seven (21.8%) patients experienced endocrine irAEs, thyroiditis being the most frequent and prevalent autoimmune endocrinopathy in 60% of cases. Endocrine irAEs were statistically significant, correlated with ICI efficacy (p = 0.002) for survival analysis. Steroids and proton-pump inhibitors used as co-medication during ICIs had a negative impact on response to therapy. (4) Conclusions: Endocrine irAEs might be considered predictive biomarkers for successful immunotherapy in mNSCLC patients. Co-medication during ICIs had a major influence on the effectiveness of these cutting-edge therapies. RWD plays an important role for oncology daily practice whenever clinical trial evidence is not available to guide decision. Full article

Objectives: The preoperative hormonal treatment (PHT) in eligible patients has the potential to become an asset for the treatment of severe hypospadias. The aim of the paper is to report the preliminary results on tolerability and efficacy of tailored transdermal PHT with testosterone before primary hypospadias repair, resulting by the joint activity between pediatric surgeons and endocrinologists. Methods: A retrospective study collected all the patients affected by severe hypospadias, with a glans width (GW) < 14 mm and/or a penile ventral curvature > 30°, treated with preoperative transdermal testosterone gel 2% at a standard dose of 2 mg/day after pediatric endocrinologist evaluation, from December 2020 to February 2024. Increases in GWs and penile lengths (PLs), together with adverse events and the rate of surgical complications, were reported. Results: During the period, ten patients were included and received transdermal PHT for 43 (±15) days on average. The treatment with PHT stopped 52 (±23) days before surgery. PL increased 0.76 (±0.27) cm (+37%) on average, and GW increased 0.42 (±0.26) cm (+40%). No adverse events were described. Three surgical complications were reported with an overall rate of 30%. Conclusions: Transdermal PHT was well-tolerated and showed a positive impact on the treatment of severe hypospadias. Future investigations might confirm these findings. Full article