Hasil untuk "Diseases of the endocrine glands. Clinical endocrinology"

Santiago Martínez Mores, Santiago Martínez Mores, Josep Franch-Nadal et al.

BackgroundErectile dysfunction (ED) is highly prevalent among men with type 2 diabetes mellitus (T2DM) and reflects systemic vascular and metabolic dysfunction. Shared mechanisms include endothelial dysfunction, oxidative stress, inflammation, autonomic neuropathy, and hypogonadism. Therefore, ED may function not only as a complication of T2DM but also as an early clinical marker of cardiometabolic disease.ObjectiveThis narrative review summarizes current evidence on the epidemiology, mechanisms, and cardiometabolic implications of ED in men with T2DM, and evaluates the impact of major cardiometabolic therapies on erectile function. A real-world cohort study was conducted using the TriNetX Global Collaborative Network, a large federated electronic health record database comprising healthcare organizations across multiple countries.ContentED is closely linked with hypertension, obesity, dyslipidaemia, heart failure, ischemic heart disease, and stroke in men with T2DM, reflecting shared microvascular and macrovascular diseases. Cohort and real-world studies indicate a strong bidirectional relationship: poor cardiometabolic control worsens erectile function, whereas improvements in glycaemia, weight, blood pressure, and lipids are associated with higher International Index of Erectile Function (IIEF) scores. Using data from the TriNetX Global Collaborative Network, large-scale real-world analyses further demonstrate that the coexistence of ED and T2DM substantially increases cardiovascular risk. In a propensity-score-matched cohort (>200,000 individuals per group), men with ED and T2DM had higher risks of ischemic heart disease (15.7% vs. 11.5%, OR: 1.44; 95% CI 1.41-1.46), stroke (OR 1.45; 95% CI 1.42-1.48), peripheral artery disease (OR 1.38; 95% CI 1.35-1.41), and heart failure (8.4% vs. 4.9%, OR 1.78; 95% CI 1.74-1.81). Conversely, among individuals with T2DM, the presence of ED was associated with increased ischemic heart disease, stroke, and peripheral artery disease. Mechanistic and clinical data suggest heterogeneous treatment effects: GLP-1 receptor agonists and SGLT2 inhibitors show promising vascular benefits with mixed erectile outcomes, whereas ARBs and finerenone appear favorable compared with older agents associated with sexual adverse effects.ConclusionED in T2DM should be regarded as a clinically relevant marker of systemic vascular disease. Routine assessment may enhance cardiovascular risk stratification and motivate earlier, comprehensive risk-factor intervention. Future prospective and randomized studies with erectile function as a predefined endpoint are needed.

Guoqing Li, Qingyu Ren, Jiaqin Zhou et al.

BackgroundThe incidence of thyroid cancer is gradually increasing year by year, with papillary thyroid carcinoma being the predominant type of thyroid cancer. Exploring the risk factors for papillary thyroid carcinoma is crucial for predicting and treating papillary thyroid carcinoma. This research investigated the correlation between the odds of papillary thyroid carcinoma (PTC) and the triglyceride-glucose-Body Mass Index (TyG-BMI) among the Chinese population.MethodsThe study enrolled 213 individuals diagnosed with thyroid nodule (TN) and 325 individuals with papillary thyroid carcinoma (PTC) to examine the association between the TyG-BMI index and the odds of papillary thyroid carcinoma. We used the restricted cubic spline (RCS) curve to explore the non-linear relationship between TyG - BMI and papillary thyroid carcinoma. The logistic regression model was employed to assess the odds relationship between TyG - BMI and papillary thyroid carcinoma. All methods are carried out in accordance with the relevant guidelines and regulations.ResultTyG-BMI (triglyceride glucose-body mass index) is positively correlated with the odds of papillary thyroid carcinoma (PTC) in a dose - response manner: for each 1-unit increase in this continuous variable, the odds ratio (OR) is approximately 1.02 (P<0.001). The OR value in the group with TyG - BMI higher than the median is 1.79 (95%CI: 1.13-2.83, P = 0.013), and the statistical significance remains after Holm-Bonferroni correction. Receiver operating characteristic (ROC) curve analysis shows that the area under the curve (AUC) of TyG - BMI for diagnosing PTC is 0.64, which is superior to that of BMI alone (AUC = 0.61).ConclusionIt was found that an increased TyG - BMI index is correlated with a higher likelihood of papillary thyroid carcinoma (PTC), but larger - scale studies are needed to verify our founding.

Guantong Qi, Jiasheng Wang, Mei Ling Chong et al.

Millions of children worldwide are affected by severe rare Mendelian disorders, yet exome and genome sequencing still fail to provide a definitive molecular diagnosis for a large fraction of patients, prolonging the diagnostic odyssey. Bridging this gap increasingly requires transitioning from DNA-only interpretation to multi-modal diagnostic reasoning that combines genomic data, transcriptomic sequencing (RNA-seq), and phenotype information; however, computational frameworks that coherently integrate these signals remain limited. Here we present RareCollab, an agentic diagnostic framework that pairs a stable quantitative Diagnostic Engine with Large Language Model (LLM)-based specialist modules that produce high-resolution, interpretable assessments from transcriptomic signals, phenotypes, variant databases, and the literature to prioritize potential diagnostic variants. In a rigorously curated benchmark of Undiagnosed Diseases Network (UDN) patients with paired genomic and transcriptomic data, RareCollab achieved 77% top-5 diagnostic accuracy and improved top-1 to top-5 accuracy by ~20% over widely used variant-prioritization approaches. RareCollab illustrates how modular artificial intelligence (AI) can operationalize multi-modal evidence for accurate, scalable rare disease diagnosis, offering a promising path toward reducing the diagnostic odyssey for affected families.

Pablo Rodriguez-Belenguer, Gloria Ribas, Javier Aquerreta Escribano et al.

Accurate segmentation of the prostate gland in multiparametric MRI (mpMRI) is a fundamental step for a wide range of clinical and research applications, including image registration, volume estimation, and radiomic analysis. However, manual delineation is time-consuming and subject to inter-observer variability, while general-purpose segmentation tools often fail to provide sufficient accuracy for prostate-specific tasks. In this work, we propose a dedicated deep learning-based approach for automatic prostate gland segmentation using the nnU-Net v2 framework. The model leverages multimodal mpMRI data, including T2-weighted imaging, diffusion-weighted imaging (DWI), and apparent diffusion coefficient (ADC) maps, to exploit complementary tissue information. Training was performed on 981 cases from the PI-CAI dataset using whole-gland annotations, and model performance was assessed through 5-fold cross-validation and external validation on an independent cohort of 54 patients from Hospital La Fe. The proposed model achieved a mean Dice score of 0.96 +/- 0.00 in cross-validation and 0.82 on the external test set, demonstrating strong generalization despite domain shift. In comparison, a general-purpose approach (TotalSegmentator) showed substantially lower performance, with a Dice score of 0.15, primarily due to under-segmentation of the gland. These results highlight the importance of task-specific, multimodal segmentation strategies and demonstrate the potential of the proposed approach for reliable integration into clinical research workflows. To facilitate reproducibility and deployment, the model has been fully containerized and is available as a ready-to-use inference tool.

Yvonne Liu, Yvonne Liu, Yvonne Liu et al.

IntroductionWith ongoing global lifestyle changes and economic development, the prevalence of hyperuricemia has steadily increased. Elevated levels of serum uric acid (SUA) have been linked to gestational diabetes mellitus (GDM); however, this relationship has not yet been specifically evaluated in women undergoing assisted reproductive technology (ART). Therefore, this study aimed to analyze the relationship between pre-pregnancy SUA as well as SUA to serum creatinine (SCr) ratio and GDM in women undergoing ART.MethodsThis retrospective cohort study was carried out at the Reproductive and Genetic Hospital of CITIC-Xiangya in Changsha, Hunan, China, and included 1027 women who underwent their first ART treatment between 2017 and 2018. SUA levels were measured during the baseline visit prior to any ART procedures, and GDM incidence was recorded based on screening results from the oral glucose tolerance test.ResultsGDM was diagnosed in 172 (16.7%) of the 1027 patients. When comparing SUA quintiles, significant differences were observed in GDM incidence, and several other parameters (including pre-pregnancy weight, BMI, blood glucose, blood pressure, SCr, lipid parameters, anti-Müllarian Hormone, follicle stimulating hormone, and testosterone). SUA was independently associated with GDM incidence after adjusting for potential confounding factors in multivariate analysis (OR 1.004, p = 0.003). Moreover, the SUA/SCr ratio displayed an even stronger association (OR 1.226, p = 0.003).ConclusionPre-pregnancy SUA levels – and particularly the SUA/SCr ratio – were significantly associated with GDM among women undergoing ART.

Hongru Feng, Xiaoliang Wang, Lili Yu et al.

BackgroundThe aging problem is a significant issue and challenge currently faced by the whole world. Hyperhomocysteinemia (HHcy) is a common phenomenon among the older adult. Increasing evidence suggests a link between HHcy and multiple systemic issues in the older adult-related diseases. Therefore, the identification of high-risk factors for HHcy in a healthy screening population can effectively regulate the occurrence, progression of HHcy, thereby reducing the incidence of older adult-related diseases.MethodsA total of 10,511 individuals who underwent a comprehensive health examination at the Second Hospital of Hebei Medical University, China from 2021 to 2022 were included. Data on gender, age, carotid ultrasound(CCA), blood pressure(BP), body mass index(BMI), serum levels of homocysteine(Hcy), total cholesterol(TC), triglycerides(TG), low-density lipoprotein(LDL-C), high-density lipoprotein(HDL-C), alanine aminotransferase(ALT), aspartate aminotransferase(AST), red blood cells(RBC), creatinine(Cr), urea, uric acid(UA), fasting blood-glucose(FBG), and glycated hemoglobin(GHb) concentration were collected.ResultsHyperhomocysteinemia was associated with gender, age, BP, CCA, BMI, elevated levels of TC, TG, LDL-C, Cr, urea, UA, as well as decreased levels of HDL-C and RBC. Among these factors male, above 65 years old age, hypertension, carotid artery abnormalities, UA, and Cr were identified as independent risk factors, while HDL-C and RBC were identified as protective factors.ConclusionThe prevalence of HHcy was very high during routine physical examination especially the senior citizens in Hebei Province, China. Therefore, high-risk populations should be the focus of public health policies, and strengthening early intervention can reduce the occurrence of HHcy, thereby delaying the onset and progression of older adult-related diseases.

Vida Adeli, Ivan Klabucar, Javad Rajabi et al.

Objective gait assessment in Parkinson's Disease (PD) is limited by the absence of large, diverse, and clinically annotated motion datasets. We introduce CARE-PD, the largest publicly available archive of 3D mesh gait data for PD, and the first multi-site collection spanning 9 cohorts from 8 clinical centers. All recordings (RGB video or motion capture) are converted into anonymized SMPL meshes via a harmonized preprocessing pipeline. CARE-PD supports two key benchmarks: supervised clinical score prediction (estimating Unified Parkinson's Disease Rating Scale, UPDRS, gait scores) and unsupervised motion pretext tasks (2D-to-3D keypoint lifting and full-body 3D reconstruction). Clinical prediction is evaluated under four generalization protocols: within-dataset, cross-dataset, leave-one-dataset-out, and multi-dataset in-domain adaptation. To assess clinical relevance, we compare state-of-the-art motion encoders with a traditional gait-feature baseline, finding that encoders consistently outperform handcrafted features. Pretraining on CARE-PD reduces MPJPE (from 60.8mm to 7.5mm) and boosts PD severity macro-F1 by 17 percentage points, underscoring the value of clinically curated, diverse training data. CARE-PD and all benchmark code are released for non-commercial research at https://neurips2025.care-pd.ca/.

Tao Yang, Dandan Huang, Yunting Lin et al.

Rare diseases affect hundreds of millions worldwide, yet diagnosis often spans years. Convectional pipelines decouple noisy evidence extraction from downstream inferential diagnosis, and general/medical large language models (LLMs) face scarce real world electronic health records (EHRs), stale domain knowledge, and hallucinations. We assemble a large, domain specialized clinical corpus and a clinician validated reasoning set, and develop RareSeek R1 via staged instruction tuning, chain of thought learning, and graph grounded retrieval. Across multicenter EHR narratives and public benchmarks, RareSeek R1 attains state of the art accuracy, robust generalization, and stability under noisy or overlapping phenotypes. Augmented retrieval yields the largest gains when narratives pair with prioritized variants by resolving ambiguity and aligning candidates to mechanisms. Human studies show performance on par with experienced physicians and consistent gains in assistive use. Notably, transparent reasoning highlights decisive non phenotypic evidence (median 23.1%, such as imaging, interventions, functional tests) underpinning many correct diagnoses. This work advances a narrative first, knowledge integrated reasoning paradigm that shortens the diagnostic odyssey and enables auditable, clinically translatable decision support.

Haowei Yang, Ziyu Shen, Junli Shao et al.

Timely identification and accurate risk stratification of cardiovascular disease (CVD) remain essential for reducing global mortality. While existing prediction models primarily leverage structured data, unstructured clinical notes contain valuable early indicators. This study introduces a novel LLM-augmented clinical NLP pipeline that employs domain-adapted large language models for symptom extraction, contextual reasoning, and correlation from free-text reports. Our approach integrates cardiovascular-specific fine-tuning, prompt-based inference, and entity-aware reasoning. Evaluations on MIMIC-III and CARDIO-NLP datasets demonstrate improved performance in precision, recall, F1-score, and AUROC, with high clinical relevance (kappa = 0.82) assessed by cardiologists. Challenges such as contextual hallucination, which occurs when plausible information contracts with provided source, and temporal ambiguity, which is related with models struggling with chronological ordering of events are addressed using prompt engineering and hybrid rule-based verification. This work underscores the potential of LLMs in clinical decision support systems (CDSS), advancing early warning systems and enhancing the translation of patient narratives into actionable risk assessments.

Jing Zhang, Xiaowei Yu, Minheng Chen et al.

Integrating brain imaging data with clinical reports offers a valuable opportunity to leverage complementary multimodal information for more effective and timely diagnosis in practical clinical settings. This approach has gained significant attention in brain disorder research, yet a key challenge remains: how to effectively link objective imaging data with subjective text-based reports, such as doctors' notes. In this work, we propose a novel framework that aligns brain connectomes with clinical reports in a shared cross-modal latent space at both the subject and connectome levels, thereby enhancing representation learning. The key innovation of our approach is that we treat brain subnetworks as tokens of imaging data, rather than raw image patches, to align with word tokens in clinical reports. This enables a more efficient identification of system-level associations between neuroimaging findings and clinical observations, which is critical since brain disorders often manifest as network-level abnormalities rather than isolated regional alterations. We applied our method to mild cognitive impairment (MCI) using the ADNI dataset. Our approach not only achieves state-of-the-art predictive performance but also identifies clinically meaningful connectome-text pairs, offering new insights into the early mechanisms of Alzheimer's disease and supporting the development of clinically useful multimodal biomarkers.

Stefan Kray, Andreas Schmid, Eric L. Wisotzky et al.

Accurate assessment of tissue perfusion is crucial in visceral surgery, especially during anastomosis. Currently, subjective visual judgment is commonly employed in clinical settings. Hyperspectral imaging (HSI) offers a non-invasive, quantitative alternative. However, HSI imaging lacks continuous integration into the clinical workflow. This study presents a hyperspectral light field system for intraoperative tissue oxygen saturation (SO2) analysis and visualization. We present a correlation method for determining SO2 saturation with low computational demands. We demonstrate clinical application, with our results aligning with the perfusion boundaries determined by the surgeon. We perform and compare continuous perfusion analysis using two hyperspectral cameras (Cubert S5, Cubert X20), achieving processing times of < 170 ms and < 400 ms, respectively. We discuss camera characteristics, system parameters, and the suitability for clinical use and real-time applications.

Feyza Sarışık, Ayten Oğuz, Murat Şahin et al.

Objective: Betatrophin is a hepatokine that modulates hepatic glucose and lipid metabolism and contributes to non-alcoholic fatty liver disease (NAFLD) pathogenesis. Therefore, this study aimed to investigate the relationship between NAFLD and betatrophin levels in hypogonadal males. Methods: The study included 56 newly diagnosed hypogonadal males aged 18-60 and 60 eugonadal males of similar age and body mass index. All participants were assessed for anthropometric and metabolic parameters, liver function tests, and betatrophin levels. Transient elastography was used to evaluate liver steatosis [controlled attenuation parameter (CAP)] and fibrosis [liver stiffness measurement (LSM)]. Accordingly, hypogonadal and control groups were divided into NAFLD (n=64) and non-NAFLD (n=52). Results: Controlled attenuation parameter, LSM, waist circumference (WC), triglycerides (TG), IR index homeostasis model assessment (HOMA-IR), and betatrophin were significantly higher in the hypogonadal group than controls. Hepatic steatosis and fibrosis (67.9%-43.3%) were higher in hypogonadal males. Triglycerides, HOMA-IR, and betatrophin were higher, and total testosterone was significantly lower in the NAFLD group. Serum betatrophin was also significantly higher in patients with fibrosis than without. There was a significant positive correlation between WC, TG, HOMA-IR, betatrophin, and LSM and CAP. The predictive factors were TG (β=0.329, P < .001), betatrophin (β=0.221, P=.029), HOMA-IR (β=0.213, P=.019) for CAP, and betatrophin for LSM (β=0.466, P < .001). Conclusion: Non-alcoholic fatty liver disease is more common in hypogonadal males than in eugonadal males. Betatrophin is an independent risk factor for developing and progressing NAFLD. However, more research is needed to explain the causal relationship between betatrophin and NAFLD.

Pei Wang, Pei Wang, Zhizhong Dong et al.

BackgroundActive surveillance has been an option for patients with low-risk papillary thyroid carcinoma (PTC). However, whether delayed surgery leads to an increased risk of local tumor metastasis remain unclear. We sought to investigate the impact of observation time on central lymph node metastasis (CLNM) and multifocal disease in patients with low-risk PTC.MethodsPatients who were diagnosed with asymptomatic low-risk PTC, and with a pathological maximum tumor size ≤1.5 cm by were included. The patients were classified into observation group and immediate surgery group, and subgroup analyses were conducted by observation time period. The prevalence of CLNM, lymph node (LN) involved &gt;5, multifocal PTC and bilateral multifocal PTC were considered as outcome variables. The changing trend and risk ratio of prevalence over observation time were evaluated by Mann-Kendall trend test and Logistics regression.ResultsOverall, 3,427 and 1,860 patients were classified to the observation group and immediate surgery group, respectively. Trend tests showed that decreasing trends both on the prevalence of CLNM and LN involved &gt;5 over the observation time, but the difference was not statistically significant, and the prevalence of multifocal PTC and bilateral multifocal PTC showed the significant decreasing trends. After adjustment, multivariate analysis showed no statistically significant difference between observed and immediate surgery groups in the four outcome variables.ConclusionIn patients with subclinical asymptomatic low-risk PTC, observation did not result in an increased incidence of local metastatic disease, nor did the increased surgery extent in patients with delayed surgery compared to immediate surgery. These findings can strengthen the confidence in the active surveillance management for both doctors and patients.

Yizhen Zheng, Huan Yee Koh, Maddie Yang et al.

The integration of Large Language Models (LLMs) into the drug discovery and development field marks a significant paradigm shift, offering novel methodologies for understanding disease mechanisms, facilitating drug discovery, and optimizing clinical trial processes. This review highlights the expanding role of LLMs in revolutionizing various stages of the drug development pipeline. We investigate how these advanced computational models can uncover target-disease linkage, interpret complex biomedical data, enhance drug molecule design, predict drug efficacy and safety profiles, and facilitate clinical trial processes. Our paper aims to provide a comprehensive overview for researchers and practitioners in computational biology, pharmacology, and AI4Science by offering insights into the potential transformative impact of LLMs on drug discovery and development.

Esra Sari, F. Erenler

Abstract Disclosure: E. Sari: None. F. Erenler: None. Introduction: Echinococcus is a rare parasitic infection endemic in the Mediterranean, Middle East, South America and Africa, which can cause cystic disease in several organs. Central nervous system involvement is known to comprise 1-2% of all cystic echinococcal disease. Hereby, we report a case of an opportunistic pituitary echinococcus infection in a patient with hypercortisolism due to adrenocortical adenoma with initial misdiagnosis of Cushing’s disease. Clinical Case: A 40-year-old South American female with poorly controlled T2DM on oral agents and hypertension presented to the ER with abdominal pain and subsequent CT of the abdomen with contrast showed a right adrenal mass measuring up to 2.8 cm. A follow up CT with adrenal protocol confirmed 3.3 cm right adrenal mass, 46 HU in precontrast images with >50% washout. Review of records revealed that a recent MRI brain with contrast was performed for headache evaluation and showed an incidental 5x7x4 mm lesion in the pituitary gland. Endocrinology evaluation revealed 24-hour urine volume 1800 mL, elevated free cortisol levels 277.6 mcg/24hr (RR: 4.0-50.0 mcg/24hr), creatinine of 0.67g/24hr (RR: 0.50-2.15g/24hr). 1 mg dexamethasone suppression test showed AM cortisol of 28.7 mcg/dL. ACTH was elevated at 67 pg/mL (RR: 6-50 pg/mL). FSH, LH, and GH were normal. Presumed diagnosis of ACTH-dependent hypercortisolism was made and she underwent bilateral inferior petrosal sinus sampling with confirmed successful cannulation but this was inconclusive due to low ACTH levels. Follow-up MRI of the pituitary gland showed T1 bright, T2 isointense circumscribed lesion measuring 7x6x3 mm at anterior pituitary gland with a thin rim of peripheral enhancement consistent with cystic features. She underwent transsphenoidal resection of the pituitary lesion and the pathology specimen showed parasites consistent with echinococcosis. Infectious disease was consulted, and the patient started on albendazole. Post-operative laboratory evaluation was notable for persistently elevated AM cortisol, 24-hour urine free cortisol levels, and low ACTH levels, confirming ACTH independent hypercortisolism. She underwent right adrenal nodule resection and pathology was consistent with adrenocortical adenoma. Post-adrenalectomy AM cortisol levels were < 2 mcg/dL, indicating the resolution of hypercortisolism along with substantiating the diagnosis of primary adrenocortical hyperfunction. Conclusion: To the best of our knowledge, this is the first case report of an opportunistic echinococcus infection presenting as a pituitary lesion in the setting of Cushing Syndrome. We would like to highlight the importance of recognizing opportunistic infections, including Echinococcus as a potential etiology in the setting of hypercortisolism, especially for patients from endemic regions. Presentation: 6/2/2024

Michael Barbera, Madeline Fasen, H. M. Lawler et al.

Abstract M. Barbera: None. M. Fasen: None. H.M. Lawler: None. M.T. McDermott: None. A.M. Elsheikh: None. Massive Thyroid Enlargement due to Langerhans Cell Histiocytosis Introduction: Langerhans cell histiocytosis (LCH) is a multisystem disease with diabetes insipidus (DI) being the most common initial manifestation. However, this case demonstrates a rare presentation of a massive goiter from LCH involvement of the thyroid gland causing respiratory distress which rapidly improved following treatment with trametinib. Clinical Case: A 27-year-old male presented with large central neck mass, stridor, dysphagia, night sweats, and dysphonia. Initial laboratory evaluation showed TSH 4.94 uIU/ML, with a free T4 of 0.64 ng/dL. Neck CT revealed diffuse enlargement of the thyroid gland with mass effect and lymphadenopathy. PET showed hypermetabolic thyroid gland which extended to the superior mediastinum and low level associated FDG uptake of bibasilar lung nodules. Biopsy of the thyroid mass resulted with lesional histiocytes with elongated, grooved nuclei, with intermixed eosinophils, CD207 (langerin) and CD1a-positive histiocytes in lesional tissues by immunohistochemistry consistent with LCH. Genetic testing was positive for BRAF mutation, exon 12, N486_P490 deletion. He was readmitted due to airway compromise and hypophysitis resulting in diabetes insipidus (DI), adrenal insufficiency (AI), hypogonadism, and hypothyroidism. He was initially treated with 10 mg of IV dexamethasone with minimal improvement, then transitioned to trametinib 2 mg daily resulting in rapid improvement of symptoms and thyroid size. Trametinib treatment was complicated by hyponatremia, skin lesions, and GI bleed for which treatment was held then decreased to 0.5 mg every other day. Repeat CT neck five months after treatment initiation showed complete resolution of thyroid enlargement and lymphadenopathy. Clinical lessons: Rarely, LCH presents with direct involvement of the thyroid gland making diagnosis difficult. This is further complicated by pathologic features that can be mistaken for papillary thyroid cancer and cooccurrence of other thyroid disorders. Given these challenges, it is necessary to consider LCH as a cause of thyroid goiter especially if the patient presents with DI and AI to prevent delay in diagnosis. This is particularly important when targeted therapy can be offered as in this case where trametinib resulted in rapid improvement of airway compromise. Reference:(1) Makras, P, Alexandraki, K, Chrousos, G, Grossman, A, and Kaltsas, G. Endocrine Manifestations in Langerhans cell histiocytosis. Trends in endocrinology and Metabolism. Vol 18 No. 6 (2) Mi, B, Wu, B, Fan, Y, Ka Seng Thong, B, Chen, Y, Wang, X, and Wang, C. Thyroid Langerhans cellhistiocytosis concurrent with papillary thyroid carcinoma: A case report and literature review. Frontiers in Medicine. DOI 10.3389/fmed.2022.1105152 Saturday, June 1, 2024

Archana Sridhar, Taibah Chaudhary, R. Kaur et al.

Abstract Disclosure: A. Sridhar: None. T. Chaudhary: None. S. Patil: None. A. Prabha Kumar: None. K. Djekidel: None. B.C. Jameson: None. Background: Thyroid storm is a rare life-threatening complication of hyperthyroidism with a mortality rate of 10-30%. Therapeutic plasma exchange (TPE) could be a bridge to definitive total thyroidectomy in patients with refractory disease who fail conventional therapy. Clinical case: Patient is a 31-year-old male with a past medical history of untreated hypertension, anxiety, alcohol use, substance abuse and a family history of Graves’ disease. He presented with complaints of breathing difficulty, back and shoulder pain for the past 1 day. In the ED he was found to be in respiratory distress with a rate of 40/min. He was started on a non-rebreather mask and was eventually intubated due to worsening distress. He was tachycardic with a heart rate of 130/min and had elevated blood pressure at 170/105 mm Hg. Physical examination was significant for diaphoresis, accessory respiratory muscle use, and diffuse swelling on the front of the neck. His blood work was significant for hemoglobin 11.1g/dL, TSH 32.6 pg/ml, FT4>7.8 ng/dL and urine drug screen was negative. Chest X-ray showed mild perihilar vascular congestion due to pulmonary edema. CT neck showed nonspecific diffuse enlargement of the thyroid gland without dominant thyroid nodule. The patient was admitted to the ICU for management of thyroid storm likely from Graves’ disease. Burch-Wartofsky Point Scale score on admission was 60. Endocrinology was consulted and the patient was started on IV hydrocortisone 100 mg and IV Methimazole 20 mg every 8 hours, propranolol 60 mg every 6 hours, and iodine drops 300 mg every 6 hours after the first dose of methimazole. Since repeat FT4 after 48 hours showed no improvement, he was switched to Propylthiouracil (PTU) with a loading dose of 500mg every 4 hours for 2 doses followed by 250 mg every 6 hours and cholestyramine 4 g orally 4 times daily to reduce enterohepatic circulation of thyroid hormone. After 3 days of PTU, the patient’s FT3 was improving but FT4 continued to be elevated. ENT was consulted for total thyroidectomy, but the patient required preparation to improve FT4 levels prior to surgery. He was transferred to a tertiary care center on Day 6 of admission to undergo TPE. After 3 sessions of TPE serum FT3 and FT4 decreased, patient’s mentation improved, and he was extubated on Day 10 of admission. He received a total of 5 sessions of TPE and underwent total thyroidectomy on Day 15 of admission without complications. Postoperatively he was started on oral Levothyroxine 125 mcg once daily and calcitriol 0.25 mcg twice daily. Patient continues to follow up with Endocrinology clinic for thyroid function monitoring and medication adjustment. Conclusion: Given the high mortality rate associated with thyroid storm, early recognition of refractory disease is imperative. Bridging with TPE while awaiting total thyroidectomy improved clinical outcomes in our patient and should be considered in such cases. Presentation: 6/3/2024

A. Farooq, Apeksha Ghumatkar, J. Snitzer

Abstract Disclosure: A. Farooq: None. A. Ghumatkar: None. J. Snitzer: None. Introduction:Cardiac tamponade, a life-threatening emergency, can be associated with primary adrenal insufficiency (Addison Disease), and accurate diagnosis requires a high degree of clinical suspicion in patients with uncertain etiology and nonspecific signs and symptoms. Case Presentation:A 58-year-old female with a history of Hashimoto thyroiditis was evaluated in the hospital for two episodes of cardiac tamponade requiring emergent pericardiocentesis within one month. The patient had been experiencing symptoms of fatigue, nausea, lightheadedness, dizziness, hiccups, and tanned skin for the past year. She also had a recent flu-like illness with nausea and vomiting four months before her current presentation. Her vitals were notable for hypotension during these episodes. Her lab work showed hyponatremia (128 mEq/L, reference range: 136-145 mEq/L) with normal potassium and glucose levels. Her thyroid function tests were within normal limits on her home levothyroxine dosage (TSH 4.588 IU/ml, reference range: 0.5-8.9 IU/ml). An ACTH stimulation test was performed based on the patient's clinical presentation, consistent with adrenal insufficiency. Her baseline cortisol level was 5.9 mcg/dL (reference range: 6.7-22 mcg/dL), a post-ACTH stimulation level of 6.7 mcg/dL after 30 minutes, and 6.0 mcg/dL after 60 minutes. Her 21 alpha-hydroxylase antibody titer was also positive for Addison Disease (231U/mL, reference range <1 IU/mL). A CT scan of the abdomen with intravenous contrast was done, which revealed no abnormality of the adrenal glands. She was treated with stress doses of hydrocortisone during hospitalization and discharged with maintenance dosage and follow-up with endocrinology. She had another episode of acute adrenal crisis about a month later but had no pericardial effusion this time and responded well to the treatment with stress doses of steroids. She has remained healthy at 14 years of follow-up. Conclusion: This case emphasizes the need to consider adrenal insufficiency in the evaluation of cardiac tamponade or pericardial effusions, especially in patients with existing autoimmune glandular disorders. This patient may have autoimmune polyglandular syndrome type 2 (APS-2), which is a cluster of two or more endocrine glandular disorders primarily diagnosed in adulthood and predominant in females. The risk of adrenal crisis is more than twofold in Addison disease due to APS-2. Lastly, this case highlights that hiccups can be related to adrenal insufficiency, with pathophysiology possibly involving diaphragmatic irritation due to adrenal inflammation that resolves with treatment. Presentation: 6/3/2024

Ika Hudayani, Himawan Sanusi

Riedel's thyroiditis is a rare fibrotic condition involving damage to the thyroid gland and infiltration of surrounding structures. Synonyms of Riedel's thyroiditis include Riedel's goiter, fibrous goiter, ligneous goiter, or chronic invasive fibrous thyroiditis. The inflammatory thyroid condition of Riedel's thyroiditis is a local manifestation of a systemic fibrous or autoimmune process and chronic sclerosis or productive thyroiditis. A 59-year-old man came to the Endocrinology Clinic at Wahidin Sudirohusodo Hospital and was consulted by an oncology surgeon colleague with complaints of a lump in his neck for 2 years before coming to the hospital. Initially the lump was the size of a marble then it got bigger, felt hard, and not painful. The patient had a history of biopsies by surgical colleagues 2 times, the first in May 2022 Fine Needle Aspiration Biopsy with Malignancy (Papillary) results at Bhayangkara Hospital, then the patient was referred to a surgical oncology colleague at Wahidin Sudirohusodo Hospital and a 1-month incision biopsy was performed before going to the endocrine polyclinic with the results of Riedel's Thyroiditis. The patient was then given therapy with Tamoxifen 20 mg per 24 hours orally, and Methylprednisolone 16 mg per 8 hours orally with tapering doses every 7 days. In the treatment during control there were no complaints but complaints of a lump in the neck tended to shrink so the treatment was continued for 2 months then the patient returned to control with a clinical lump in the neck shrinking (Improvement). Riedel's thyroiditis is a disease characterized by an overgrowth of connective tissue that can invade surrounding structures. This connective tissue growth may extend into the recurrent laryngeal nerve. This thyroid inflammatory condition is suspected as a local manifestation of a systemic fibrotic process or an autoimmune process. Commonly used therapies such as glucocorticoids and immunosuppressant agents such as tamoxifen. Steroid treatment is usually given at a dose of 100 mg of prednisolone daily.

Muhammad Iman Pratama Putra, Nanny Natalia Mulyani Soetedjo, Maya Kusumawati et al.

Riedel's thyroiditis is a rare fibrotic condition involving damage to the thyroid gland and infiltration of surrounding structures. Synonyms of Riedel's thyroiditis include Riedel's goiter, fibrous goiter, ligneous goiter, or chronic invasive fibrous thyroiditis. The inflammatory thyroid condition of Riedel's thyroiditis is a local manifestation of a systemic fibrous or autoimmune process and chronic sclerosis or productive thyroiditis. A 59-year-old man came to the Endocrinology Clinic at Wahidin Sudirohusodo Hospital and was consulted by an oncology surgeon colleague with complaints of a lump in his neck for 2 years before coming to the hospital. Initially the lump was the size of a marble then it got bigger, felt hard, and not painful. The patient had a history of biopsies by surgical colleagues 2 times, the first in May 2022 Fine Needle Aspiration Biopsy with Malignancy (Papillary) results at Bhayangkara Hospital, then the patient was referred to a surgical oncology colleague at Wahidin Sudirohusodo Hospital and a 1-month incision biopsy was performed before going to the endocrine polyclinic with the results of Riedel's Thyroiditis. The patient was then given therapy with Tamoxifen 20 mg per 24 hours orally, and Methylprednisolone 16 mg per 8 hours orally with tapering doses every 7 days. In the treatment during control there were no complaints but complaints of a lump in the neck tended to shrink so the treatment was continued for 2 months then the patient returned to control with a clinical lump in the neck shrinking (Improvement). Riedel's thyroiditis is a disease characterized by an overgrowth of connective tissue that can invade surrounding structures. This connective tissue growth may extend into the recurrent laryngeal nerve. This thyroid inflammatory condition is suspected as a local manifestation of a systemic fibrotic process or an autoimmune process. Commonly used therapies such as glucocorticoids and immunosuppressant agents such as tamoxifen. Steroid treatment is usually given at a dose of 100 mg of prednisolone daily.