bluuebunny/crossref_metadata_2025_split huggingface dataset:
7333 Does Allgrove Syndrome Have Endocrine Manifestations Beyond Adrenal Insufficiency?
Authors: Sathi Sri Ram Teja , Jara-Tantoco Mikaela , Anastasopoulou Catherine 
Published: October 2024

Abstract
Disclosure: S. Sathi: None. M. Jara-Tantoco: None. C. Anastasopoulou: None.
Background: Allgrove syndrome, initially described as a triad of alacrimia, adrenal insufficiency (AI), and esophageal achalasia (Triple A syndrome) is a multisystem disorder with a wide array of phenotypic presentations. Mutations involving the AAAS (achalasia-addisonianism-alacrimia syndrome) gene on chromosome 12q13 are the cause with a prevalence of 1 in 1 million population. To our knowledge, there are no reports of any other endocrine manifestations apart from AI and osteoporosis associated with this disorder. We describe a patient with a cluster of more endocrine diseases. Case: A 44-year-old hispanic female was diagnosed with Allgrove syndrome in the first decade of her life when she was found to have esophageal achalasia, AI, and absence of lacrimation. Physical exam revealed BMI of 18 kg/m2 without dysmorphic features, skin abnormalities, or neurological deficits. Thyroid gland size was within normal limits, and there was no evidence of thyroid eye disease. She had multiple hospitalizations with abdominal symptoms attributed to esophageal stricture and esophagitis resulting in an adrenal crisis each time. During one such hospitalization, she had symptoms suggesting hyperthyroidism including palpitations, weight loss, and heat intolerance. Workup was consistent with Graves’ disease, and she was started on methimazole 5 mg daily with good response. Further evaluation revealed that she became amenorrheic in her 20s. Workup was consistent with premature ovarian failure (POF). A DXA scan revealed very low bone mineral density consistent with osteoporosis (T scores; Hip: -3.8, Fem neck: -3.7, Lumbar Spine: -3.5). She had mild vitamin D deficiency but normal calcium and parathyroid hormone levels. The patient chose osteoporosis-specific treatment over hormonal replacement. Zoledronic acid was chosen considering her history of Heller myotomy and esophageal strictures. She was maintained on hydrocortisone 20 mg daily for her adrenal insufficiency. Lab work: FSH: 148 mIU/ml (3.5 - 12.5)LH: 58.4 mIU/ml (2.4 - 12.5)Estradiol: &lt;5 pg/mL (12.5 - 166)TSH: &lt;0.01 mIU/mL(0.35 - 4.94)T4 Free: 2.45 ng/dL (0.7 - 1.48)TSI %: 412(&lt;140)PTH: 17 pg/mL (15 - 65)Learning points: Allgrove syndrome is a rare autosomal recessive inherited disorder with 70% of the patients developing the classic triad of alacrimia, esophageal achalasia, and AI. Early onset osteoporosis that is not completely explained by glucocorticoid use, has been described. We present a patient with Allgrove syndrome with additional disorders of hyperthyroidism and POF which are known risk factors for osteoporosis. It is unclear if these additional endocrine abnormalities are manifestations of Allgrove syndrome or just coincidental. Further evaluation of known cases of Allgrove syndrome for these disorders can help answer this question.
Presentation: 6/3/2024
7870 Exploring The Role Of ChatGPT In Pediatric Endocrinology Education; Exam Preparation And Question Generation
Authors: Tarkoff Joshua , Martinez Sanchez Andrea G 
Published: October 2024

Abstract
Disclosure: J. Tarkoff: None. A.G. Martinez Sanchez: None.
Large language models (LLMs) hold substantial promise for improving physician knowledge and expertise. Their role in medical education and the generation of diverse diagnoses can be crucial, potentially leading to positive effects on clinical outcomes. The New England Journal of Medicine pediatric case challenges have examined ChatGPT [1]. Yet, its performance in specialized areas like Pediatric Endocrinology remains unexplored. This study assesses the effectiveness of ChatGPT 4 in responding to questions from the Pediatric Endocrine Self-Assessment Program (PESAP). It also examines if the AI is suitable for creating an educational quiz for residents and fellows. Methods: ChatGPT 4 underwent testing with questions from the 2021-2022 version of PESAP, utilizing the prompt: “Can you assist from the perspective of a pediatric endocrinologist with the following patient case”. Responses were evaluated for initial correctness, and performance was analyzed across various competency categories corresponding to the 7 “umbrella sections” of the tool (Adrenal, Bone, Carbohydrate and Lipid Metabolism/Obesity, Growth, Pituitary, Reproductive System, and Thyroid). Subsequently, we personalized the model by incorporating the questions and detailed responses from the PESAP. This customization resulted in a model that was then utilized to create a 10-question proof-of-concept quiz for four board-certified pediatric endocrinologists. The quiz included a scoring system designed to measure the extent and depth of ChatGPT knowledge. Results: ChatGPT 4 accurately answered 52% of PESAP questions, demonstrating varying performance across specific categories, ranging from 30% (Adrenal) to 78% (Reproductive System). In 16 questions, ChatGPT 4 did not provide an initial answer, requiring a specific request for a response. For questions related to thyroid cancer, explicit prompts were necessary to instruct responses based on the American Thyroid Association 2015 guidelines. In the endocrinologist quiz, the average score was 80%, ranging from 60% to 100%. Discussion: Currently, using ChatGPT 4 as the final diagnostic tool, especially in pediatric endocrinology, should be approached with caution, based on our assessment. However, when incorporating distinct Pediatric Endocrinology case studies, ChatGPT 4 successfully generated valuable educational questions, reinforcing fundamental concepts in the field. We anticipate that as LLMs advance and receive direct medical training, the out-of-the-box diagnostic accuracy will improve, leading to a transformative impact on medical education through this technology. References: 1. Barile J, Margolis A, Cason G, et al. Diagnostic Accuracy of a Large Language Model in Pediatric Case Studies. JAMA Pediatr. Published online January 02, 2024.
Presentation: 6/3/2024
9374 Gender Disparities In Endocrinology And Metabolism-Related Readmissions Following Covid-19 Hospitalization
Authors: Krueger Noelle , Alfar Hadeel , Shaka Abdultawab , Seares Marie Jennifer , Lanka Lavanya , Shaka Hafeez 
Published: October 2024

Abstract
Disclosure: N. Krueger: None. H. Alfar: None. A. Shaka: None. M. Seares: None. L. Lanka: None. H. Shaka: None.
Gender Disparities in Endocrinology and Metabolism-related Readmissions Following COVID-19 Hospitalization Authors: Noelle Krueger, Jennifer Marie Seares, Hadeel Alfar, Lavanya Lanka, Abdultawab Shaka, Hafeez Shaka. Introduction: Coronavirus disease 2019 (COVID-19) is a viral disease responsible for the devastating pandemic that began at the end of 2019. It has been associated with an increased risk of a variety of endocrine disorders. In this study, we identified the causes, predictors, and gender disparities of 30-day and 90-day endocrinology and metabolism readmissions (EMR) after COVID-19 related hospitalizations utilizing National Readmissions Database (NRD) 2020. Methods: We utilized the National Readmission Database from 2020 to identify hospitalized adults with a principal diagnosis of COVID-19 infection. We included subjects who were readmitted within 30 days and 90 days after index admission. We excluded subjects with elective and traumatic admissions. We utilized a multivariate Cox regression model to identify independent predictors of readmission. Results: During the study period, there were 1,024,492 index hospitalizations with a primary diagnosis of COVID-19 infection in the 2020 NRD database, 644,903 (62.9%) were included for 30-day readmission analysis, and 418,122 (40.8%) were included for 90-day readmission analysis. Of these, 2496 (0.3%) and 2929 (0.7%) were EMR for 30 and 90 days respectively. The most common causes of EMR were hypo-osmolarity with electrolyte dysfunction (41.7%), Type 2 DM with complications (32.9%) and Type 1 DM with complications (6.5%). Cox regression analysis adjusting for confounders revealed that female sex was associated with higher odds of 30-day (aHR=1.21; 95% CI 1.079-1.364; p=0.001) and 90-day (aHR=1.13; 95% CI 1.028-1.258; p=0.001) EMR cases. Being discharged against medical advice was also strongly predictive of readmission in 30 days (aHR=2.06; 95% CI 1.412-2.999; p&lt;0.001) Conclusion: Our study demonstrates that female gender and being discharged against medical advice carry higher odds of 30-day and 90-day EMR. Identifying risk factors and common causes of readmission may assist with lowering the burden of endocrinologic disorders in patients with COVID-19 infection.
Presentation: 6/2/2024
9220 Machine Learning Methods In Differential Diagnosis Of Genetically Confirmed Multiple Endocrine Neoplasia Type 1 And Its Phenocopies
Authors: Trukhina Diana , Voronov Kirill , Mamedova Elizaveta , Solodovnikov Alexander , Belaya Zhanna 
Published: October 2024

Abstract
Disclosure: D. Trukhina: None. K. Voronov: None. E. Mamedova: None. A. Solodovnikov: None. Z. Belaya: None.
Background. MEN-1 is a rare autosomal dominant disorder caused by mutations in the MEN1 gene encoding the menin protein (gMEN1). This syndrome is characterised by the occurrence of parathyroid tumours, gastroenteropancreatic neuroendocrine tumours, pituitary adenomas, and other endocrine and non-endocrine neoplasms. If a patient with the MEN-1 phenotype does not have any mutation in the MEN1 gene, the condition is considered a phenocopy of the syndrome (phMEN1). The goal of this study was to develop a machine learning algorithm to estimate the probability of gMEN-1 vs phMEN-1 based on easily available clinical features at first line differential diagnostics. Materials and methods. A single-center, one-stage, cohort, retrospective study was carried out. Patients were randomly stratified into 2 cohorts: training (80%) and test (20%). Eight machine learning algorithms were used to develop predictive models: Logistic Regression, k-nearest neighbors (kNN), Naive Bayes, binary decision tree (CART), C5.0 decision tree algorithms, Bagged CART, Random Forest, Gradient Boosting (Stochastic Gradient Boosting, GBM). Results. The study included 95 patients with genetically confirmed gMEN-1 syndrome and 60 patients with its phenocopies. As a result of preliminary data processing and selection for the most informative features, the final variables for the classification and prediction of gMEN-1 syndrome were identified: the number of affected parathyroid glands, age at diagnostics, pancreatic tumour existence, heredity, type of pituitary adenoma secretion, and gender. The kNN algorithm demonstrated the best diagnostic performance in a training sample (ROC-AUC - 0.96, sensitivity - 84%, specificity - 100%), which was confirmed in a test sample (ROC-AUC - 1.0; sensitivity - 94.4%, specificity - 100%) to determine genetically confirmed MEN-1 syndrome. Conclusion. The k-nearest neighbours (kNN) algorithm may be used as a first-line differential diagnostics method to select patients to be refered for genetic testing for gMEN-1.
Presentation: 6/1/2024
7055 Metabolic Disorders In Thalidomide Embryopathy
Authors: Tanabe Akiyo 
Published: October 2024

Abstract
Disclosure: A. Tanabe: None.
Thalidomide embryopathy (TE) is a congenital limb defect that occurs in neonates born to pregnant women who have taken thalidomide. Typical abnormalities of the TE are upper limb hypoplasia and and/or auditory dysfunction. In Japan, thalidomide was marketed as an agent for sleep-induce and digestive ulcers from 1958 to 1962. Up to now, approximately 290 cases have been certified and are supported by the government as drug-induced disease. Currently, many of the victims are in their late 50s, and in addition to congenital disabilities, various health issues such as lifestyle-related diseases can be developed. We investigated their metabolic condition using data of medical health checkup between 2017 and 2018. Fifty-one Japanese cases of TE (28 men and 23 women) were included in this study. The mean age was 56.4±1.6 years in men and 55.9±1.2 years in women. The prevalence of upper limb deformities was 64% in men and 74% in women; the remaining patients had only hearing impairment. The mean body mass index (BMI) was 22.7±2.1 in men and 22.5±4.0 in women. Eleven percent of men and 17% of women had a BMI between 25-30, while 9% of women and no men had a BMI of 30 or greater. Liver dysfunction was seen in 32% of men and 9% of women. The mean high-density lipoprotein cholesterol level was 60±17 mg/dL in men and 68±18 mg/dL in women. The mean low-density lipoprotein (LDL) cholesterol level was 120±28 mg/dL in men and 136±35 mg/dL in women, with 25% of men and 48% of women had LDL level of 140 mg/dL or greater. The mean triglyceride (TG) level was 144±85 mg/dL in men and 116±61 mg/dL in women, with 43% of men and 17% of women had a level of 150 mg/dL or greater. The mean HbA1c level was 6.0±1.0% in men and 5.9±0.4% in women. The prevalence of impaired glucose tolerance was 25% in men and 13% in women. Fatty liver (FL) evaluated by ultrasonography or CT scan was 61% in men and 39% in women. The patients with FL showed significantly high body fat percentage and TG level in men, high alanine aminotransferase, γ-glutamyl transpeptidase and TG levels in women, respectively, compared to the patients without FL. The prevalence of hypertriglyceridemia was significantly higher in men with FL compared with men without FL. There was no significant difference in with or without the upper limb abnormalities in both groups. Although without obvious overweight, more than 40 % of the patients had dyslipidemia and 50% of the patients had FL. The limb abnormalities can result in movement limitations however other factors may be involved in the development of metabolic disorders in TE. The results of this study provide valuable information for future health management in thalidomide embryopathy. (This study was conducted by a research grant from the National Center for Global Health and Medicine, Japan: 21A1015 and a Grant-in-Aid from the Ministry of Health, Labour, and Welfare, Japan: 20KC2005, 23KC2017).
Presentation: 6/2/2024
6569 An Increase, Rather Than Absolute Amount, Of Corticotropin-Releasing Hormone (Crh) Drives Mouse Anxiety-Like Behavior
Authors: Rose Friedman Hannah , Gaston Lindsey , Chan Li , Majzoub Joseph A 
Published: October 2024

Abstract
Disclosure: H.R. Friedman: None. L. Gaston: None. L. Chan: None. J.A. Majzoub: None.
Approximately 300 million people have an anxiety disorder. We previously found that anxiety-like behavior (AB) is decreased in mice which lack hypothalamic (HT) Crh (1), so we hypothesized that increased HT Crh, due to primary adrenal insufficiency (PAI), would induce increased AB. To evaluate this, we compared AB in wildtype (WT) mice to those with global deletion of either the Crh gene (CrhKO) or the Mrap gene (MrapKO, causing PAI (2)), measuring: 1) HT Crh mRNA by in situ RNAscope, 2) stress-induced (after 15 min of restraint) plasma corticosterone (CORT) and adrenocorticotropin hormone (ACTH) by ELISA, and 3) AB with elevated plus maze (EPM), and open field (OF) automatically-recorded behaviors. Comparisons were evaluated by ANOVA with post hoc Bonferroni corrections vs. WT. As expected, Crh mRNA was highest in MrapKO (n=16) compared to WT (n=11), and undetectable in CrhKO (n=10), and post-restraint CORT was highest in WT (11±2 mcg/dL), and undetectable in CrhKO and MrapKO. CrhKO mice displayed decreased AB (increased EPM open arm duration) vs. WT animals (140±11 vs. 68±8 s, respectively, P&lt;0.0001). However, AB was comparable between MrapKO (97±10 s) vs. WT (68±8 s; P=0.0807) despite higher HT Crh mRNA in the former. To determine if chronically high vs. a dynamic rise in Crh mRNA is associated with increased AB, we treated MrapKO mice with dexamethasone (DEX) for 5-8 weeks to suppress HT Crh mRNA and assayed hypothalamic-pituitary-adrenal axis function and behavior both on DEX (MrapKO-D; N=4) and 1-week post-withdrawal (MrapKO-DW; N=5). As expected, ACTH was highest in the MrapKO-DW vs. WT (1689±535 vs. 378±35 pg/mL, respectively; P&lt;0.0001) and undetectable in MrapKO-D. Notably, MrapKO-DW mice displayed increased AB (decreased OF center duration) vs. WT animals (56±3 s vs. 114±10 s; P=0.0439). In summary, AB was not present in MrapKO mice with chronically elevated HT Crh mRNA but only developed after they were DEX-treated followed by withdrawal from treatment. These data suggest that in mice, a dynamic rise in HT Crh, but not a chronically elevated level, drives AB, and suggest that Crh is a possible target for anxiety treatment. References: (1) Zhang R et al., Mol Psychiatry. 2017 May;22(5):733-744. (2) Novoselova TV et al., FASEB J. 2018 Jun 7;32(11):fj201701274RR
Presentation: 6/2/2024
8463 Navigating Medical Decisions: A Study Of Second Opinions From Both The Physician And Patient Standpoints
Authors: Derevyanko Olga 
Published: October 2024

Abstract
Disclosure: O. Derevyanko: None.
Background: In contemporary healthcare, the concept of seeking second opinions has become increasingly prevalent, shaping the dynamics of patient-physician relationships. This study aims to delve into the multifaceted landscape of second opinions, examining the perspectives of both doctors and patients. As medical decision-making becomes more collaborative, understanding the factors influencing the second opinion process is crucial for enhancing patient outcomes and fostering effective communication within the healthcare system. Objectives: • To identify patterns and discrepancies between doctors' and patients' viewpoints on the importance and impact of second opinions.• To provide insights that can contribute to the development of strategies for improving the second opinion experience for both doctors and patients.• To assess how often patients seek for second opinion MethodsA comprehensive survey conducted among 756 doctors endocrinologists in social media Instagram , aiming to explore their attitudes and concerns regarding patients seeking second opinions in medical practice and 787 patients to find out how many of them seek for a second opinion. Results: Out of the surveyed doctors, 51.3% (n=388) expressed a positive and accepting attitude toward patients seeking second opinions. This majority acknowledged the importance of patient autonomy and the right to seek additional perspectives on their medical conditions.A significant portion, 34.5% (n=261) of doctors, voiced concerns related to potential drawbacks associated with second opinions. These concerns primarily revolved around the possibility of patients receiving conflicting advice or experiencing delays in crucial treatment decisions.A noteworthy 14.2% (n=107) of doctors indicated concerns related to the potential impact of second opinions on the trust between doctors and patients. This subset of professionals expressed apprehensions about how seeking additional perspectives might influence the doctor-patient relationship. 554 out of 787 patients reported about seeking for the second opinion most of the time. Conclusion: The insights gleaned from this survey shed light on the complex landscape of doctors' perspectives on second opinions. Recognizing the nuances within these attitudes is imperative for developing strategies that support collaborative decision-making and patient-centered care in the medical community. This research contributes valuable insights to the ongoing discourse surrounding patient autonomy and doctor-patient relationships.
Presentation: 6/3/2024
7419 Navigating The Diagnostic Maze Of Pseudohypoglycemia In A Young Adult Male With Severe Hypertriglyceridemia: A Novel Case Report
Authors: Muojieje Chukwudi , Hotiana Mateen 
Published: October 2024

Abstract
Disclosure: C. Muojieje: None. M. Hotiana: None.
Objective: This case report aims to shed light on the challenges of diagnosing and managing pseudohypoglycemia, particularly in the absence of Whipple's triad, and to explore its rare association with severe hypertriglyceridemia. Methods and Results: We present a 26-year-old Caucasian male with a history of depression, anxiety, and recently diagnosed hyperlipidaemia who presented to Cabell Huntington Hospital with intermittent chest pain and multiple episodes of syncope. Laboratory findings revealed low sodium (128 mmol/L) and significant discrepancies in blood glucose levels (52 mg/dL in laboratory tests vs. 93 mg/dL in point-of-care tests). The managing team initiated an evaluation for hypoglycaemia based on the low serum glucose values by ordering c-peptide, insulin and pro-insulin (normal findings). Endocrinology was consulted for further management of pseudo hypoglycaemia. Consultation led to further investigations, revealing severely elevated triglycerides (2,568 mg/dL), cholesterol (478 mg/dL), low HDL (26 mg/dL), and very low-density VLDL (514 mg/dL). The stat glucose test showed a level of 103 mg/dL, while the routine glucose test on the same sample was less than 10 mg/dL, and the point-of- care glucose test was 90 mg/dL. An A1c test returned normal at 4.9%, and the patient had no history of diabetes or insulin use. Conclusion: This case highlights the complexities in diagnosing pseudohypoglycemia, a condition that can present with falsely low glucose readings in the absence of clinical hypoglycemia symptoms. The significant hypertriglyceridemia observed in this patient suggests a potential novel association. The findings emphasize the need for comprehensive evaluation in cases of discordant glucose readings and suggest a potential new frontier in understanding and managing pseudohypoglycemia. Physicians should be aware of rare instances of in vitro glycolysis leading to pseudohypoglycemia and consider lipid profiles in their diagnostic process.
Presentation: 6/3/2024