bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT541 Pleural Effusion As First Manifestation Of Recurrent Follicular Thyroid Cancer
Authors: Kadakia Natasha S , Poku Caroline A 
Published: October 2023

Abstract
Disclosure: N.S. Kadakia: None. C.A. Poku: None.
Pleural effusions are a rare presentation of Follicular Thyroid Cancer (FTC). We portray a case of a patient with a remote history of FTC who presented with pleural effusion 57 years later as the first sign of recurrence. A 80 year old male presented to the hospital 8/2021 with shortness of breath and was found to have a pleural effusion. He had a history of FTC diagnosed at age 23 status post total thyroidectomy, external beam radiation and radioactive iodine. He was started on thyroid hormone replacement and was subsequently lost to follow up. Chart review showed unremarkable neck ultrasounds completed in 2004 and 2006. During admission 8/2021, a malignant pleural effusion was diagnosed after the effusion tested positive for TTF-1 and thyroglobulin (Tg). He was diagnosed with recurrent metastatic thyroid cancer. A CT scan of the neck showed a small paratracheal nodule while a PET scan revealed hypermetabolic activity in the left pleura. A neck ultrasound reported a 2 cm cervical lymph node on the right with preserved fatty hilum and an ovoid 1 cm isoechoic solid nodule in the left surgical bed. There was evidence of bulky calcified lymph nodes on CT. The pleural lesion was not accessible however biopsy of a supraclavicular lymph node was consistent with metastatic follicular carcinoma. After a delay due to iodine contrast exposure, a whole body scan with radioactive iodine was completed in 1/2022 and showed multiple foci of uptake in the right neck, right thyroid, left clavicular region, and lung bases. He was treated with 250 mCi I-131 sodium iodide in 1/2022 and levothyroxine dose was increased with a target TSH of less than 0.1. His Tg level was mildly increased. Thyroglobulin antibodies (Tg ab) were positive but have continued to trend down after treatment. A follow up CT chest done 7/2022 had persistent pleural thickening but significant improvement in pleural effusion and thus thyroxine kinase inhibitors (TKI) chemotherapy has not been initiated. Malignant pleural effusion is a rare presentation of FTC metastasis with a reported median survival of 11 months (Kazushige). Pleural effusion is a poor prognostic sign in patients with FTC and distant metastases (Broome). This affirms that prompt recognition is of essence however it also raises the question of how effective current therapies are. A retrospective study evaluated 20 patients who received RAI for pulmonary metastasis from FTC, and found the efficacy rate was relatively low (40%). There is insufficient data to determine the effectiveness of RAI as treatment for metastatic FTC to the pleura. This case adds to the limited literature on recurrence of FTC with pleural effusion and highlights limitations of current management. If the response to RAI is deemed inadequate then consideration should be given to the use of TKI.
Presentation Date: Saturday, June 17, 2023
SAT395 Gender Dysphoria In A Patient With Ovotesticular Disorder Of Sex Development
Authors: Moreno Telma , Rodrigues Pedro , Ribeiro Sara , Carvalho Davide M 
Published: October 2023

Abstract
Disclosure: T. Moreno: None. P. Rodrigues: None. S. Ribeiro: None. D.M. Carvalho: None.
Introduction: Ovotesticular disorder of sex development (OT-DSD) is a rare condition characterized by the presence of both ovarian and testicular tissue in the gonads. Management and sex designation of these patients depend on several factors and an underlying potential for gender dysphoria should be acknowledged.Clinical Case: A 12-month-old patient from Guinea-Bissau, born from consanguineous parents, was referred to Pediatric Surgery due to atypical genitalia. Karyotype was 46,XX and SRY gene analysis was negative. Genitoscopy showed absence of a vagina and a uterus was not found on magnetic resonance imaging. An exploratory laparotomy and biopsy of the gonads was performed. The pathology report confirmed the presence of gonadal ovarian and testicular tissue, establishing the diagnosis of OT-DSD. Surgical removal of both gonads and clitoroplasty was performed and a female sex designation was attributed. Endocrinology follow-up was started at the age of 8 and the first physical examination revealed weight 48.6 kg (&gt; P97), height 135.5 cm (P90–97); Tanner stage I (P1A1M0) and a blind vagina with normal clitoris size. Blood tests showed FSH 12.53 mUI/L, LH 1.07 mUI/L, estradiol 5.8 pg/mL and total testosterone 0.04 ng/mL. Reconstructive surgery for a neovagina was performed at 13-years-old and, two years later, the patient was started on hormone replacement therapy with transdermic estradiol. At the age of 16, the patient manifested gender dysphoria issues, decided to stop estradiol and was referred for psychiatric evaluation. Two years later, intramuscular testosterone enanthate was initiated but treatment was stopped after a six-month trial, as the patient claims to identify as male but is not interested in seeking hormone treatment at this point.Conclusion: OT-DSD is an uncommon condition, raising issues of gender assignment that are dependent on factors such as age at diagnosis, phenotype, internal structures and reproductive potential. Scarce data exists on long-term outcomes in OT-DSD, including the frequency of gender dysphoria in these patients. Gender identity is an important factor to consider on long-term follow-up of OT-DSD patients.
Presentation: Saturday, June 17, 2023
SAT400 Evaluation Of Lipid Profile Of Transgender Women On Long-Term Estrogen Therapy
Authors: Mobilia Alvares Leonardo Azevedo , Santos Lívia Marcela , Mendonça Berenice Bilharinho , Frade Costa Elaine Maria , Domenice Sorahia 
Published: October 2023

Abstract
Disclosure: L.A. Alvares: None. L.M. Santos: None. B.B. Mendonça: None. E.M. Costa: None. S. Domenice: None.
Introduction: For transgender women (TW), previous exposed to male puberty, on long-term estrogen therapy, the knowledge about the lipid profile is important since it impacts on cardiovascular risk. Methods: A cross-sectional study was carried out with 15 TW (34.2 +/- years old), 14 CW and 13 CM. The TW received hormone therapy for 14.4 +/- 3.5 years. The IPAQ was used to measure the level of physical activity. Body composition was assessed by an InBody 720 device. The subjects (TW, CW and CM) were classified into five categories (sedentary, insufficiently active A and B, active and very active) according to IPAQ recommendations. Results: Age (years) TW: 34.2 SD +/- 5.2; CW: 35.6 SD +/- 4.1 and CM: 36.7 SD +/- 3.8. BMI (kg/m2) TW 25.5 SD +/- 2.8, CW 23.1 SD +/- 3.3 and CM 26.3 SD +/- 3,0. Total testosterone (ng/dL) TW 18.0 (range 12-637), CW 19 (range 12-40.1) and CM 524 (SD+/- 169). Median total cholesterol analysis (mg/dL): TW 154 SD +/- 33.0, CW 177 SD +/- 18.7 and CM 173 SD +/- 23.0 (p&gt;0.05 in all subanalyses), HDL (mg/dL) TW: 46.5 SD +/- 10.9; CW:67.0 SD +/- 15.6 and CM: 46.5 SD +/- 9.8 p value &lt;0.05; significant difference between TW and CW; between CW and CM; LDL (mg/dL) TW: 93 SD +/- 30.4; CW 94.5 SD +/- 14.2 and CM 104 SD +/- 22.0. The % FAt mass of TW was lower than that of CW (29.5±5.7 vs 32.9±5.7; p&gt;0.05) and higher than that of CM (20.2±5.7; p&lt;0.001). There was no significant difference in the level of physical activity between the groups (TW vs CW, p&gt;0.05; TW vs CM, p&gt;0.05; CW vs CM, p&gt;0.05), with most participants being active or very active in all groups. Discussion: studies show that in the first few months of estrogen therapy HDLc increases about 10%. Conclusion: after long term on estrogen therapy, TW present HDLc pattern similar to CM, different of the usually observed in the first months analyses.
Presentation: Saturday, June 17, 2023
SAT417 Comparison Of Mental Health Status In Transgender And Gender Diverse Versus Cisgender People
Authors: Pedreira Clarissa C , Tchir-Bourgeois Sophia , Tuli Shubhangi , Giancola Abigail , Lopez Lopez Ana P , Keuroghlian Alex S , Misra Madhusmita , Andreano Joseph M 
Published: October 2023

Abstract
Disclosure: C.C. Pedreira: None. S. Tchir-Bourgeois: None. S. Tuli: None. A. Giancola: None. A.P. Lopez Lopez: None. A.S. Keuroghlian: None. M. Misra: None. J.M. Andreano: None.
Background: In the last decade, there has been an increase in the number and visibility of transgender and gender diverse (TGD) people seeking support and health care. These individuals are at a substantially increased risk for depression, anxiety and suicide relative to cisgender people. Some estimates suggest a lifetime prevalence of suicide approaching 40%, a rate ten times that of the general population. Nonbinary people appear to experience stressors that are both similar to and unique from those experienced by transgender (TG) men and women. Objective: To assess and compare the mental health status of TGD (before starting gender affirming hormone therapy) versus cisgender people. Methods: We collected cross-sectional data from 14 TGD (8 TG binary and 6 nonbinary) and 11 cisgender subjects before starting gender affirming hormone therapy. Subjects completed a series of self-reported inventories designed to assess depressive symptoms (Center for Epidemiological Studies Depression Inventory), anxiety (State/Trait Anxiety Inventory), traumatic experiences (Post-Traumatic Stress Disorder symptom self-report version), response to depressive mood (Ruminative Response Scale) feelings and emotions (Positive and Negative Affect Schedule), and personality (NEO Personality inventory). Results: Mean [SD] age was 25.8 [6.0], 27.6 [4.7] and 26.5 [4.3) years for TG binary, nonbinary and cisgender groups respectively. Mean [SD] age of gender dysphoria was 14.5 [4.9] and 14.5 [8.9] years for TG binary and nonbinary groups respectively. Compared with the cisgender group, the nonbinary group had higher scores for negative feelings and emotions [29.50 (19.25, 31.25) vs. 13.00 (10.00, 19.00), (p=0.005)], rumination [55.33 ± 4.72 vs. 41.36. ± 3.45 (p=0.03)], depression [15.83. ± 1.62 vs. 8.73 ± 1.20 (p=0.005)], anxiety [47.67 ± 3.72 vs. 34.82. ± 2.97 (p=0.02)], and neuroticism [41.83 ± 2.82 vs. 30.46. ± 2.57 (p=0.01)]. Traumatic experiences did not differ between the two groups. Compared to the TG binary group, the nonbinary group had higher scores for negative feelings and emotions [26.50 ± 2.59 vs. 17.13 ± 1.68 (p=0.01)] and depression [15.83. ± 1.62 vs. 9.50 ± 1.63 (p=0.02)]. Levels of anxiety, rumination, traumatic experiences and neuroticism did not differ between these groups. Conclusion: These results direct attention to the increased levels of negative feelings and emotions as well as depression in the nonbinary group compared to TG binary and cisgender groups. The data highlight the critical need for intervention approaches to mitigate these risks in nonbinary individuals.
Presentation: Saturday, June 17, 2023
THU506 A Not-So-Simple Case Of Hyperparathyroidism
Authors: Bhatt Plukshi J , Rabiei Samaneh , Kantorovich Vitaly 
Published: October 2023

Abstract
Disclosure: P.J. Bhatt: None. S. Rabiei: None. V. Kantorovich: None.
Multiple endocrine neoplasia 1 (MEN-1) is a rare autosomal dominant disorder caused by an inactivating mutation of the MEN-1 tumor suppressor gene and is associated with tumors of the parathyroid (95%), endocrine pancreas (40-70%) and anterior pituitary (30-40%). Primary hyperparathyroidism is the most frequent and earliest expression of MEN1 syndrome with a typical onset at age 20-25 in inherited cases, reaching 100% penetrance after age 50. Current guidelines recommend genetic testing in all individuals with primary hyperparathyroidism diagnosed at a young age, with multiglandular disease, or with family history of primary hyperparathyroidism. A 58 year old female with a history of L. breast cancer, pulmonary embolisms, DM2, and recurrent nephrolithiasis was diagnosed with primary hyperparathyroidism at age 36 and had a parathyroidectomy with 3.5 gland removal and later a total thyroidectomy. She continued to be symptomatic and was found to have an ectopic parathyroid gland in her chest requiring parathyroid gland reimplantation 18 years later. After 3 years, she was admitted for a CHF exacerbation and a pancreatic tail lesion was incidentally discovered. There was no mention of pancreatic lesions prior to this reading. Family history was pertinent for a father with nephrolithiasis. Her daughter had recurrent nephrolithiasis, hyperparathyroidism and was found to have a MEN 1 variant of uncertain significance, prompting the patient to seek genetic counseling. 22 years after her initial diagnosis of hyperparathyroidism, she tested positive for a likely pathologic heterozygous variant mutation of the MEN1 gene called 1747C&gt;T. At endocrinology follow-up, she was asymptomatic. Labs showed elevated Chromogranin A at 1,799 ng/ dL [&lt;311] and gastrin 174pg/mL [&lt;/=100]. FSH, LH, prolactin, free alpha subunit, cortisol, and IGF-1 were normal. Further imaging confirmed a DOTATATE-avid 1.1cm nodular lesion in the pancreatic tail, concerning for a neuroendocrine tumor. MEN1 gene mutation is associated with MEN1 syndrome, familial isolated hyperparathyroidism and has an autosomal dominant predisposition to thyroid cancer and paraganglioma-pheochromocytoma syndrome. The 1747C&gt;T sequence change creates a premature translational stop signal in the MEN1 gene and disrupts the NLS2 domain of the MEN1 protein, which is important for DNA binding and repression of cell proliferation. Upon diagnosis of multiglandular hyperparathyroidism, the patient should have been sent for genetic testing and instead, became an example of a multisystem failure to identify and provide necessary testing and treatment. Until her variant diagnosis, her pancreatic tumor was not identified as such. The main cause of mortality in MEN-1 patients is malignant spread of neuroendocrine tumors, hence early detection and prompt treatment are of the utmost importance to preserve quality of life and improve survival.
Presentation: Thursday, June 15, 2023
THU521 A Case Of Multifocal Pancreatic Neuroendocrine Tumor With Multiple Twists
Authors: Syeda Asma , Kantorovich Vitaly 
Published: October 2023

Abstract
Disclosure: A. Syeda: None. V. Kantorovich: None.
Background: Multifocal pancreatic neuroendocrine tumors (PNETs) are rare and are usually associated with genetic syndromes like Multiple Endocrine Neoplasia 1 (MEN1). Sporadic multifocal PNETs have been infrequently reported. Case: A 68-year-old Caucasian female with a past medical history of hypertension, hyperlipidemia, type 2 diabetes mellitus, morbid obesity, multiple renal cysts, and Barrett’s esophagus presented to endocrinology for evaluation of PNET. An MRI performed for evaluation of renal cysts demonstrated pancreatic lesions suspicious for neoplasm. An endoscopic ultrasound (EUS) guided fine needle aspiration biopsy (FNAB) of the largest lesion was consistent with low grade PNET positive for chromogranin A (CgA) and synaptophysin. Biochemical workup was remarkable for elevated CgA of 4800 ng/mL (n: &lt;311 ng/mL) and elevated gastrin level of 700 pg/mL (n: &lt;100 pg/mL); however, the patient was on proton pump inhibitors. A Ga-68 DOTATATE scan revealed 4 DOTATATE avid masses in the pancreatic head, neck, body and tail, the largest measuring 2.3 cm in the pancreatic head. No metastatic lesions were identified. Family history is significant for hyperparathyroidism in one sister and endometrial cancer in another sister. Genetic testing was negative for 86 genetic mutations including MEN1, VHL, TSC1 and TSC2. The patient underwent a successful total pancreatectomy, splenectomy and duodenectomy with a hepaticojejunostomy and gastrojejunostomy. Surgical pathology revealed 5 multifocal tumors, measuring 0.4-2.2 cm in diameter, with clear margins, without any lymphovascular invasion and 19 lymph nodes negative for malignancy. Mitotic rate was &lt;2 mitoses per mm2 and Ki-67 index was &lt; 3 %. Next Generation Sequencing of the surgical specimen was positive for ATM gene deletion. Interestingly, immunohistochemistry stained strongly for insulin, glucagon and INSM1 suggestive of nesidioblastosis although the patient did not have preoperative hypoglycemia that would raise a clinical suspicion. Discussion: This case highlights several unique features in a multifocal PNET. A recent study suggested that multifocality is not associated with worse prognosis or increased risk of recurrence. Another distinctive finding in our patient is the ATM gene mutation. Heterozygous pathogenic variants in ATM gene are known to be associated with hereditary pancreatic cancer but there has been no reported association with PNETs. ATM gene down regulation is linked with metastatic NETs and was proposed as a potential predictive marker for metastasis and as a novel target in metastatic gastroenteropancreatic NETs. Concurrent occurrence of nesidioblastosis and PNET has been rarely reported in the literature, however, it was a clinically silent phenomenon in our case.
Presentation: Thursday, June 15, 2023
SAT632 The Functional Role And Regulatory Mechanism Of FTO M6A RNA Demethylase In Human Uterine Leiomyosarcoma
Authors: Yang Qiwei , Al-Hendy Ayman 
Published: October 2023

Abstract
Disclosure: Q. Yang: None. A. Al-Hendy: None.
Introduction: Uterine leiomyosarcoma (uLMS) is the most frequent subtype of uterine sarcoma that presents a poor prognosis, high rates of recurrence, and metastasis. However, the origin and molecular mechanism underlying driving its clinical and biological behavior remain to be determined. Recently, we and others have revealed the role of microRNAs, DNA methylation, and histone modifications contributing to the pathogenesis of uLMS. However, the connectivity between reversible RNA m6A methylation and uLMS remains unclear. In this study, we assessed the role and mechanism of the m6A demethylase fat mass- and obesity-associated protein (FTO) in the pathogenesis of uLMS. Materials and Methods: We performed immunohistochemistry (IHC) and immunoblot analysis to measure the m6A erasers FTO and ALKBH5 protein levels in LMS and adjacent myometrium tissues (n=8) and cell lines. We performed LMS cell proliferation and cell cycle phase distribution analysis. RNA-seq was performed to determine the molecular mechanism underlying m6A eraser inhibition in LMS cells (n=4 for each group). The R package limma+voom was used for this analysis. Hallmark pathway analysis was used to identify enriched pathways in response to FTO inhibition. Real-time PCR was performed to validate the differentially expressed genes. Ingenuity pathway analysis (IPA) was performed to determine the upstream regulators targeting cell cycle-related genes. We used a cutoff −1.5 &gt; fold-change &gt; 1.5 and an adjusted p-value of 0.05. In addition, data were analyzed by a two-tailed unpaired Student’s t-test between any two groups. Results: IHC analysis revealed that m6A demethylases FTO and ALKBH5 are aberrantly upregulated in uLMS tissues compared to adjacent myometrium (p&lt;0.01, H-score). Furthermore, inhibition of FTO with its small, potent inhibitor (Dac51) decreased the uLMS proliferation dose-dependently via cell cycle arrest at G1. Notably, RNA-seq analysis revealed that inhibition of FTO with Dac51 exhibited a significant decrease in the expression of multiple CDK members and a significant increase in the expression of CDKN1A. Furthermore, IPA analysis revealed that transcription factors, including SP1 and E2F members are the upstream regulators targeting CDK members in response to Dac51 treatment. Moreover, Dac51 treatment altered the expression of several epigenetic regulators, including Sirt1 and 2, HDAC10 and SUV39H1, and rewiring of several critical pathways, including inflammation response, G2M checkpoint, and C-Myc signaling, among others, leading to suppression of uLMS phenotype. Conclusion: Our findings uncover the anti-uLMS function of a potent FTO inhibitor via reprogramming the oncogenic epitranscriptome. Therefore, targeted inhibition of FTO may provide an additional regulatory layer for a promising and novel strategy for treating patients with this aggressive uterine cancer.
Presentation: Saturday, June 17, 2023
SAT289 Prevalence And Treatment Outcomes of Critical Illness-related Corticosteroid Insufficiency (CIRCI) In Septic Shock Patients In Medical Wards And Emergency Room In Thammasat University Hospital
Authors: Sanpawithayakul Kanokporn , Meepornbucha Kamonwan , Pirompanich Pattarin , Vibhatavata Peeradon 
Published: October 2023

Abstract
Disclosure: K. Sanpawithayakul: None. K. Meepornbucha: None. P. Pirompanich: None. P. Vibhatavata: None.
Background: The reported prevalence of critical illness-related corticosteroid insufficiency (CIRCI) varies widely, depending on the patient population studied and the diagnostic criteria used. Although hydrocortisone (HC) is widely used in patients with septic shock who respond poorly to adequate fluid resuscitation and vasopressors, clinical outcomes remain controversial. Objectives: To investigate the prevalence of CIRCI and to evaluate characteristics of septic shock patients treated with HC due to suspicion of CIRCI as compared to septic shock patients without CIRCI. Material and Method: Retrospective analysis of septic shock patients admitted in medical wards in Thammasat University Hospital, from January 2020 to June 2021, was performed. Prevalence of CIRCI in septic shock patients was explored by using different serum cortisol cutoff at 10 μg/dL (C-10) and 18 μg/dL (C-18), respectively. 28-day mortality, duration of hospital and intensive care unit (ICU) admission, mechanical ventilator usage, need for vasopressor support, and complications of HC use were also analyzed. Results: Of the 252 septic shock patients, 68 patients were met our inclusion criteria. Eight (11.8%) and 20 (29.4%) patients was diagnosed with CIRCI by serum cortisol cutoff 10 and 18 µg/dL, respectively. There were no significant differences in baseline characteristics (i.e., age, sex and preexisting diseases) between groups. Of the septic shock patients without CIRCI diagnosed by C-18 cutoff, initial SOFA and APACHE II, serum creatinine and lactate were significantly higher. Moreover, 28-day mortality rate was statistically higher in patients without CIRCI by C-18 cutoff (70.8% vs 40.0%, p=0.03). Multivariate analysis recognized the the amount of vasopressor use as significant predictor of 28-day mortality, with OR 19.04 (95%CI 1.23-293.80, p=0.04) and 19.34 (95% CI 1.27-293.50, p=0.03) in C-10 and C-18, respectively. However, in-patient mortality was not statistically different between groups regardless of the cortisol cutoff. Conclusion: Using a 18-C cutoff, there was a higher mortality rate in patients without CIRCI. Keyword: Septic shock, CIRCI, critical illness-related corticosteroid insufficiency
Presentation: Saturday, June 17, 2023