Journal of Endocrinological Investigation最新文献

Purpose: The clinical use of artificial intelligence (AI) is expanding in endocrinology, yet the performance of large language models (LLMs) in managing adrenal incidentalomas remains uncertain. To compare the performance of four LLMs-ChatGPT-4o, ChatGPT-o1, Google Gemini 2.0, and Claude 3.5-on guideline-based queries and clinical scenarios involving adrenal incidentalomas.

Methods: In this cross-sectional study, 34 guideline-derived questions and four case scenarios were presented to the LLMs, covering diagnosis, treatment and follow-up, patient questions, and clinical cases. Six endocrinologists evaluated responses using Likert scales assessing hallucination tendency, quality, usability, reliability, and accuracy. Readability metrics and word counts were also analyzed.

Results: No significant differences were found between models in diagnosis (p = 0.86-0.72), treatment and follow-up (p = 0.46-0.10), and patient question (p = 0.78-0.10) categories. However, in complex cases, ChatGPT-4o outperformed ChatGPT-o1 with higher scores in hallucination control (6.5 ± 0.8 vs. 4.8 ± 0.8), quality (6.2 ± 0.8 vs. 5.0 ± 0.6), and usability (4.5 ± 0.8 vs. 3.3 ± 0.5) (all p < 0.05). Readability analysis revealed high text complexity (Flesch-Kincaid Grade Level: 10.6-17.4), and inter-rater reliability was excellent (intraclass correlation coefficient: 0.876-0.961, p < 0.001).

Conclusion: LLMs show potential as decision-support tools in adrenal incidentaloma management. While their performance is comparable in routine tasks, significant differences arise in complex cases, highlighting the need for model selection, human oversight, and attention to readability in endocrine practice.

Objective: Cushing Disease (CD) presents with typical clinical findings, even though, there is a wide spectrum of manifestations. Over the years, the sings and symptoms of Cushing's syndrome (CS) have become more subtle and atypical forms of CS have emerged. In this study, we aimed to investigate the changes in the clinical presentation of CD in recent years.

Materials and methods: In this study, CD patients followed by our center were examined. A total of 258 patients with CD were included in the study. The clinical findings at the time of presentation, laboratory and imaging findings, treatment modalities and remission status in the first year after treatment were evaluated.

Results: The mean age of the patients included in the study was 41.3 ±13.28 years. CD patients diagnosed between 2013 and 2023 were older than those diagnosed between 1990 and 2012 (p < 0.001). There was no difference between the groups in terms of gender. Moon face, purple striae, hirsutism, and menstrual irregularities were statistically significantly less frequent in the last 10 years than in previous years (p < 0.001; p = 0.004; p < 0.001; p < 0.001, respectively). In addition, patients who applied after 2013 had lower baseline cortisol and adrenocorticotropic hormone (ACTH) levels, and a smaller median size of the pituitary adenoma. Limitations of the study include its retrospective design and the subjectivity of clinical data.

Conclusion: As the clinical presentation of Cushing's disease changes over time, waiting for the typical Cushing's clinic can delay diagnosis. It is important that clinicians take this into account when they suspect CD.

Background: Acne, a chronic inflammatory disease, is influenced by insulin-like growth factor 1 (IGF-1). Acromegaly, characterized by excessive growth hormone (GH) and IGF-1, is associated with a higher prevalence of acne, though the underlying mechanisms remain unclear.

Objective: This study aims to explore the underlying mechanisms why patients with acromegaly are more susceptible to acne, especially refractory acne.

Methods: An acromegaly rat model was established via biweekly long-acting recombinant human GH (rhGH) injections for eight weeks. Serum levels of GH, IGF-1, and glucose were measured, and skin pathology was examined. Immunohistochemistry, transcriptomics, and proteomics were performed to explore molecular pathways, with RT-qPCR and western blot validation.

Results: Serum GH and IGF-1 levels significantly increased from week 3 and remained elevated throughout the study in the rhGH-treated group. Acneiform lesions, including epidermal hyperkeratosis, sebaceous gland hyperplasia, and dermal thickening, were observed. Immunohistochemical analysis revealed upregulation of IGF-1, IGF-1R, SREBP1, and IL-1β. Transcriptomic and proteomic analyses identified 1,112 differentially expressed genes and 440 differentially expressed proteins, underscoring the activation of inflammation, extracellular matrix (ECM) remodeling, epithelial-mesenchymal transition (EMT), and cell proliferation through PI3K/Akt pathways. Significant upregulation of matrix metalloproteinases (MMPs) and tissue inhibitor of metalloproteinase 1 (TIMP-1) was observed in both transcriptomic and proteomic analyses.

Conclusion: Chronic GH stimulation leads to persistent IGF-1 elevation, promoting acne by increasing IGF-1R expression and disrupting ECM remodeling via PI3K/Akt-regulated MMPs and TIMP-1. These findings help clarify the link between acromegaly and acne and provide mechanistic insights into the role of IGF-1 in acne pathogenesis.

Purpose: Thyroid Eye Disease (TED) is the most common thyroid-related autoimmune inflammatory disorder. Despite a surge in TED-related publications over the past five years-matching the total output of the preceding sixteen years-a systematic bibliometric analysis remains absent. This study aims to systematically map the knowledge structure, research hotspots, and future trends in TED research.

Methods: Publications related to TED from 2004 to 2024 were retrieved from the Web of Science Core Collection database. VOSviewer, CiteSpace, and the R package "Bibliometrix" were utilized for bibliometric analysis.

Results: A total of 4,306 publications from 91 countries, led by the United States and China, were included. The number of TED publications has shown a consistent upward trend. The leading research institution was the University of Pisa. Among scientific journals, the Journal of Clinical Endocrinology & Metabolism, THYROID, Journal of Endocrinological Investigation, and Ophthalmic Plastic and Reconstructive Surgery, had the highest number of publications. The 15,766 contributing authors were led by Smith, Kahaly, Marino, Yoon, and Marcocci in terms of publication volume. Bartalena was identified as the most frequently co-cited author. TED research focuses foremost on mechanisms (pathogenesis, immunity, autoantibodies), treatment (management, therapy, orbital complications), and epidemiology (prevalence, diagnosis, risk factors). Artificial intelligence, disease activity, hearing loss, teprotumumab, dysthyroid optic neuropathy, inflammation, and magnetic resonance imaging are the primary keywords of emerging research hotspots.

Conclusion: Our study represents the first comprehensive bibliometric analysis of TED, summarizing its knowledge mapping, research hotspots, and frontiers, while providing valuable insights for scholars in the field.

Purpose: The genetic background and catecholamine phenotype of pheochromocytomas and paragangliomas (PPGLs) influence the age at diagnosis. However, few studies have systematically investigated clinical features of older patients with PPGLs. This study was based on one of the largest PPGL cohorts in China and aimed to summarize the clinical and genetic characteristics of older PPGL patients, especially concerning intraoperative hemodynamics and genetic background.

Methods: This retrospective study involved 897 patients with abdominal PPGLs from two Chinese centers. DNA from tumor samples was sequenced using next-generation sequencing. Clinical information, intraoperative hemodynamic data, and pathogenic variants were collected and compared between younger (≤ 50 years) and older (> 50 years) patients.

Results: Older patients had a higher rate of incidental tumors (40.5% vs. 48.2%, P = 0.022), fewer typical catecholamine-related symptoms (49.8% vs. 42.4%, P = 0.032), lower plasma normetanephrine levels (7.61 vs. 5.17, P = 0.003) and higher proportion exceeding the normal glycemic range (21.7% vs. 34.4%, P = 0.01) compared to younger patients. The proportion of older patients receiving α-adrenergic receptor blockers for preoperative preparation decreased to 74% compared to 82.4% in younger patients (P = 0.003). During surgery, older patients showed hemodynamic changes indicative of vascular and cardiac aging. Specifically, older patients had lower minSBP, DBP, minMAP, and heart rate, while the SBP fluctuation was higher (P = 0.008). Additionally, younger patients have significantly higher mutation rates for SDHB (5.5% vs. 1.0%, P < 0.001) and VHL (13.3% vs. 7.3%, P = 0.003). HRAS mutations are more prevalent in older patients (10.5% vs. 21.3%, P < 0.001). IDH1 mutations occurred exclusively in older patients (0.56%, 5/887).

Conclusion: Older patients with PPGLs have unique clinical and genetic characteristics. These differences highlight the importance of personalized diagnosis and treatment for various age groups, particularly in developing preoperative preparation strategies to improve vascular and cardiac function in older patients.

Purpose: Subtotal parathyroidectomy (STP) is the preferred surgery for MEN1-related primary hyperparathyroidism (PHPT), balancing recurrence and complication risks. MEN1-negative patients show a milder disease course, supporting the hypothesis that post-operative outcomes may also differ between MEN1-positive and MEN1-negative patients.

Methods: We conducted a retrospective study of 101 MEN1 patients undergoing parathyroidectomy to compare PHPT outcomes by genetic status and surgical approach. MEN1-positive patients mainly received total parathyroidectomy (TP) or STP, while MEN1-negative patients underwent less than subtotal parathyroidectomy (LSTP).

Results: No significant differences were found between MEN1-positive and MEN1-negative patients in remission (p = 0.423), recurrence (p = 0.509) or persistence (p = 0.814) rates, regardless of surgical approach. Chronic postsurgical hypoparathyroidism occurred only in MEN1-positive patients (12.7%). In a sub-analysis of LSTP cases, MEN1-negative patients showed significantly better outcomes, with higher remission (47.6% vs. 16.6%, p = 0.01), and lower recurrence and persistence. Among MEN1-positive patients, TP or STP led to better outcomes compared to LSTP, with higher remission (60.5% vs. 16.7%, p = 0.00005), and lower recurrence and persistence. Recurrence occurred earlier after LSTP (84.0 vs. 160.0 months, p = 0.032).

Conclusions: MEN1 genetic status and surgical strategy both shape PHPT outcomes. MEN1-positive patients benefit from more extensive surgery, performed at high-volume centers, whereas MEN1-negative patients have more favorable outcomes with limited resections, though their remission still trails that of sporadic PHPT. These differences underscore the need for individualized surgical planning.