bluuebunny/crossref_metadata_2025_split huggingface dataset:
FRI213 Multiple Endocrine Neoplasia Syndromes: A Rare Case With Variable Presentation
Authors: Gomez D' Aza Danelly J , Kasap Melih , Zahedi Tooraj , Zhang Fan 
Published: October 2023

Abstract
Disclosure: D.J. Gomez D' Aza: None. M. Kasap: None. T. Zahedi: None. F. Zhang: None.
Introduction: Multiple endocrine neoplasia (MEN) syndromes are rare autosomal dominant inherited groups of disorders characterized by the presence of two or more primary endocrine glands tumors. MEN type 1 is usually associated with neoplastic lesions of the pituitary gland, the parathyroid gland, and the pancreas. MEN type 2 typically presents with overgrowth of parathyroid, adrenal glands (pheochromocytoma), and parathyroid hyperplasia (MEN 2A), Marfanoid body habitus, or mucosal neuromas (MEN 2B). It can also manifest with non-endocrine tumors including carcinoid tumors, adrenocortical tumors, meningiomas, facial angiofibromas, collagenomas, lipomas, and germline mutations (MEN type 4). It is extremely rare for MEN type 1 syndrome to have concomitant pheochromocytoma. Case Report: We present a case of a 69 yo female with multiple comorbidities who was hospitalized for heart failure exacerbation. CT scan showed incidental findings of a 4.1 cm right adrenal nodule, a 2.1 cm left anterior mediastinum nodule, and a 1.1 cm oval pituitary mass. She had multiple episodes of hypertension urgency during the last two years. After patient recovered to her base line, workup labs revealed elevated serum Catecholamine with Metanephrine 431.1 pg/mL, Normetanephrine 466.5 pg/mL, Norepinephrine 137 pg/mL, and high PTH 258 pg/mL. Further study was normal for pituitary function tests, aldosterone, renin, cortisol, thyroid, and renal function. PET scan showed mild hypermetabolic activity in bilateral adrenal glands without any abnormal hypermetabolic activity in the chest. Thyroid Ultrasound identified a 1 cm thyroid nodule. Phenoxybenzamine was started due to concern for pheochromocytoma. Patient was monitored closely since she declined surgical intervention. Discussion: MEN syndromes have variable clinical presentation with multiple hormone excess. This patient has imaging and laboratory findings highly suggestive of MEN syndrome with pituitary adenoma, pheochromocytoma, and hyperparathyroidism. Further work up and genetic testing would be helpful to identify the mutation of MEN type 1 or type 2. Clinicians should be aware of the variable presentation of MEN syndrome, and prompt treatment is warranted to prevent life-threatening conditions.
Presentation: Friday, June 16, 2023
OR31-02 Persistence Of Gender Identity And Hormone Therapy Use In Transgender Adolescents: A Retrospective Cohort Study
Authors: Gupta Pranav , Patterson Briana Cary , Gold Sarah , Chu Lena , Yeung Howa , Goodman Michael , Tangpricha Vin 
Published: October 2023

Abstract
Disclosure: P. Gupta: None. B.C. Patterson: None. S. Gold: None. L. Chu: None. H. Yeung: None. M. Goodman: None. V. Tangpricha: None.
Introduction: Adolescents with gender dysphoria often seek feminizing or masculinizing hormone therapy to affirm their gender identity. While receipt of gender-affirming hormone therapy (GAHT) has been associated with improved quality of life and well-being, the incidence of discontinuation of GAHT and the reasons for discontinuation are not known. The purpose of this study was to 1) assess the discontinuation rate of GAHT, and 2) explore the reasons for GAHT discontinuation.
Methods: This was a retrospective cohort study approved by Emory University’s and Children’s Healthcare of Atlanta’s Institutional Review Board. Medical charts of transgender adolescents seen at Children’s Healthcare of Atlanta were reviewed. Patients met the inclusion criteria if they were prescribed GAHT (estradiol or testosterone) between 01/01/2016 to 01/01/2019. We defined continuation of GAHT if the participant was still taking estradiol or testosterone as of 01/01/2019. If the participant stopped taking hormonal therapy prior to 01/01/19, they were deemed to have discontinued hormonal therapy and the reason for discontinuation was collected from the chart if documented. If the reason was not documented or if the status of hormone discontinuation was not known, the participant was contacted via telephone to ascertain whether still taking GAHT or not and to ascertain the GAHT discontinuation reason if not taking GAHT as a part of phase II of the study.
Results: This study included 82 participants; 36 (43.9%) transgender girls, 45 (54.9%) transgender boys, and 1 (1.2%) non-binary adolescent. The mean age of participants was 16.7 (SD= 1.7) years and the majority were white (N= 71; 86.6 %) and non-Hispanic or Latino (N=76; 92.7%). The majority (N= 59, 72.0 %) of the participants were privately insured. The mean duration of hormonal therapy was 21.5 (SD= 15.4) months spanning over a maximum of 66 months. Only 3 participants had discontinued GAHT therapy: one participant stopped hormonal therapy due to insurance issues, one participant stopped GAHT temporarily to conceive a baby and one stopped testosterone to transition to a non-binary gender. No participant re-transitioned to the gender congruent with the sex assigned at birth.
Conclusion: Discontinuation of GAHT in this group of transgender adolescents was infrequent. No participant re-transitioned to the gender congruent with the sex assigned at birth while 3 participants discontinued GAHT due to external factors. Pediatric providers should prescribe GAHT in accordance with the Endocrine Society guidelines if the adolescent needing GAHT meets the diagnosis of gender dysphoria, has parental consent, and is pubertal.
Presentation: Sunday, June 18, 2023
FRI216 A Rare Case Of Cushing Syndrome Secondary To Adenocarcinoma Of The Lung
Authors: Masauding Alheraki Samee Zane , Horani Mohamad Hosam , Alharraki Faizah Z 
Published: October 2023

Abstract
Disclosure: S.M. Alheraki: None. M.H. Horani: None. F.Z. Alharraki: None.
Cushing syndrome is one of the endocrine diseases that is mainly due to the high levels of cortisol. An overproduction of adrenocorticotropic hormone (ACTH) by a pituitary adenoma or an ectopic, paraneoplastic foci (small cell lung cancer) is the primary cause of secondary hypercortisolism. While small cell lung cancer and carcinoids cause the majority of ectopic ACTH syndromes, in this article, we describe a case of Cushing syndrome secondary to lung adenocarcinoma. It is highly likely that patients with malignancies are suffering from ectopic ACTH syndrome if they exhibit clinical signs such as weakness, hypertension, or lab values indicating hyperglycemia, hypokalemia, or metabolic alkalosis.
Presentation: Friday, June 16, 2023
THU492 Functional Characterization Of Nuclear-enriched Non-coding Genes In Triple-negative Breast Cancer
Authors: Reid Victoria A , Choudhari Ramesh , Yang Barbara , Ramos Enrique Ivan , Dhandayuthapani Subramanian , Gadad Shrikanth 
Published: October 2023

Abstract
Disclosure: V.A. Reid: None. R. Choudhari: None. B. Yang: None. E.I. Ramos: None. S. Dhandayuthapani: None. S. Gadad: None.
Breast cancer, the top diagnosed cancer in women worldwide, is the second leading cause of cancer-related deaths in women. There are several molecular subtypes of breast cancer, which can be classified into two main groups, estrogen receptor-positive (ER+) and estrogen receptor-negative (ER-) subtypes. An ER+ diagnosis typically results in a better overall prognosis than ER- cases, as these tumors often have more available treatment options. Of the ER- subtypes, triple-negative breast cancer (TNBC) cases are the most aggressive and present the worst overall survival than any other molecular subtype. Recent studies have shown that long non-coding RNAs (lncRNAs) exhibit oncogenic or tumor-suppressive roles across different cancer types, in addition to traditionally being known to have multiple functions in regulating gene expression. Our previous studies demonstrated that lncRNA161 is regulated by estrogen, localized to chromatin, and regulates the estrogen-dependent growth of ER+ breast cancer cells and tumor growth. However, our current study revealed its opposite role in TNBC. We are investigating the role of lncRNA161 in TNBC cells utilizing multi-omics approaches, along with in vivo studies, to analyze multiple ER- cell lines, including the more aggressive TNBC subtype. Intriguingly, we found that doxycycline-induced expression of lncRNA161 in various TNBC cell lines attenuated the expression of several epithelial-to-mesenchymal transition (EMT) markers. In vivo, we observed that TNBC tumor growth was significantly decreased in mice after injection with MDA-MB-231 cells overexpressing lncRNA161. Together, our data indicate that lncRNA161 acts as a tumor suppressor in TNBCs, which could potentially lead to establishing it as a prognostic biomarker and therapeutic target for treating TNBCs in the future. S.S.G. is supported by grants from a) The Cancer Prevention and Research Institute of Texas (CPRIT; RR170020); b) Lizanell and Colbert Coldwell foundation; c) The Edward N. and Margaret G. Marsh Foundation; and d) The American Cancer Society
Presentation: Thursday, June 15, 2023
THU496 A Positive Relationship Exists Between CARF And AR In Prostate Cancer
Authors: Hasan Kamrul M , Khambati Hussain , Huerta Roxana Ramirez , Vadgama Jaydutt , Sinha-Hikim Amiya P , Friedman Theodore C 
Published: October 2023

Abstract
Disclosure: K.M. Hasan: None. H. Khambati: None. R.R. Huerta: None. J. Vadgama: None. A.P. Sinha-Hikim: None. T.C. Friedman: None.
Prostate cancer (PCa) is the second most prevalent cancer among men worldwide. Since PCa onset is androgen dependent, androgen deprivation therapy (ADT) is the first treatment choice for a primary tumor or metastatic PCa. However, ADT eventually leads to the development of castration resistant PCa (CRPC), which is the leading cause of higher mortality in PCa. Thus, there is a need to identify the underlying mechanisms of CRPC to manage this aggressive disease. Increased androgen receptor (AR) expression is one of the most important factors contributing to the development of CRPC. It has been shown that tumor suppressor p53 negatively regulates the expression of AR. So, loss of p53 functions has been associated with increased expression of AR in advanced PCa. However, the mechanism of p53-mediated inhibition of AR is not well understood. In this study, we demonstrated that CARF (CDKN2AIP), a p53 pathway regulatory protein, is highly expressed in PCa, but its significance in PCa development is unknown. Since, like AR, CARF is negatively regulated by p53, we hypothesize that a reciprocal relationship between CARF and p53 could regulate AR expression in PCa cells. Indeed, we found that activation of p53 by DNA damage stress inhibited both CARF and AR in LnCap and 22RV1, AR-positive, and wtp53 cell lines. Our result indicated that CARF and AR were decreased dose-dependent manner, and presumably, that could trigger cell death. Consistent with this speculation, we found that silencing CARF by ShRNA in LnCap triggered apoptosis and inhibition of cell proliferation. With great interest, we further demonstrated that silencing of CARF downregulated the AR level in LnCap and 22RV1 cells suggesting that CARF regulates the expression of AR in PCa. RT-PCR results showed that AR transcripts remained unchanged in CARF-depleted LnCap cells. This result indicated that CARF could regulate the AR stability but not the transcription. Intriguingly, we found that the expression of NEDD4, one of the AR-targeting E3 ligases, was increased in CARF-depleted cells. Therefore, by enhancing the stability, CARF could positively regulate the expression of AR in PCa cells. Further studies are in progress to know more details about the CARF-mediated AR regulation and its impact on androgen-independent PCa development and progression.
Presentation: Thursday, June 15, 2023
THU505 Severe Acute Hypercortisolism From Stable Pre-existing Lung Nodule
Authors: Raza Nadia , Wagle Sneha , Kiani Rabia Nadeem , Kaput Katie 
Published: October 2023

Abstract
Disclosure: N. Raza: None. S. Wagle: None. R.N. Kiani: None. K. Kaput: None.
A 63-year-old male with uncontrolled hypertension and Rheumatoid arthritis was admitted for acute psychosis, progressive asthenia, and severe refractory hypokalemia. He was afebrile on admission and blood pressure was 151/99 mmHg. Physical examination lacked typical Cushingoid appearance of moon facies, central obesity, or purple striae. Labs showed a potassium of 1.8 (ref: 3.3-5 mmol/L), HbA1c 6.0% (ref&lt;=5.6 %), 24-hour urinary free cortisol of 9438 (ref&lt;=60.0 ug/d) and random ACTH level of 229 (ref:7.7-63.3pg/ml). The presentation was felt to be consistent with ectopic ACTH dependent Cushing's syndrome. He was treated with ketoconazole 400 mg BID, Deep veinous thrombosis prophylaxis and trimethoprim-sulfamethoxazole daily for PJP prophylaxis. CT chest/abdomen/pelvis was performed and showed a 1.9 cm right middle lobe pulmonary nodule. Past records were reviewed and showed a stable lung nodule from 2020 (2.5 years earlier). Elective lung biopsy was discussed, and the patient was discharged home with plan for outpatient biopsy. Prior to his biopsy, he was readmitted with worsening agitation, hypertension, and extremity edema. After extensive discussion with CT surgery, a decision was made to perform robotic-assisted thoracoscopic resection of the right middle lobe with mediastinal lymph node dissection. Post-surgery his BP improved, agitation resolved, and cortisol level declined to 3.4 (ref: 6.0 - 18.4 ug/dL). Final pathology showed a well differentiated neuroendocrine tumor, low grade. Lymphovascular invasion was present, and one lymph node was positive for tumor. ACTH immunostaining was performed and was also positive. Ectopic ACTH dependent Cushing syndrome represents a rare condition, contributing to 5-20% of Cushing’s cases. Lung carcinoid tumor is one of the major causes of ectopic ACTH syndrome and typically resolves with surgery. Unusual in our case is the stability of the lung lesion prior to his acute decompensation and lymph node positivity. To date, we have not identified a reason for the indolent nature of his tumor. He is currently on a hydrocortisone taper and is actively undergoing treatment planning with our multidisciplinary peer review process. Essential to his management is the coordination of multiple providers, which includes complex medical decision making and treatment decisions. In the future, lung carcinoid should be considered in the differential for persons with difficult to control hypertension and a stable pulmonary nodule
Presentation: Thursday, June 15, 2023
THU508 Does Mid-treatment Response To 177Lu-DOTATATE Predict Treatment Outcome In Patients With Neuroendocrine Neoplasms?
Authors: Halperin Reut , Tirosh Amit 
Published: October 2023

Abstract
Disclosure: R. Halperin: None. A. Tirosh: None.
Introduction - Patients with advanced or unresectable neuroendocrine neoplasm (NENs) have limited systemic treatment modalities. Among these, patients with well differentiated (G1 and G2) NENs can be treated with peptide receptor radionuclide therapy (PRRT) treatment with 177Lu-DOTATATE. However, a subset will require further chemotherapy in later stages. Hence, limiting radiation exposure is of paramount importance. However, there are no mid-term predictive factors for response to PRRT. Aims - Assess the utility of mid-treatment (post 2nd cycle) response to PRRT as a potential predictor for final outcome in patients with well-differentiated NENs. Materials and Methods - A retrospective study in a tertiary center, enrolling patients that underwent at least four cycles of PRRT. Data gathered included demographics, tumor grade and stage, treatment response (partial response [PR], stable disease [SD] or progressive disease [PD]) evaluated by 68Ga-DOTATATE PET CT after 2nd and 4th treatment cycle, compared to pretreatment 68Ga-DOTATATE PET CT scan. Results - A total of 30 patients (50% women, age at diagnosis 63.5±1.7 years) completed four PRRT cycles (median, range 4-6). NEN primary site were pancreatic (n=15), small intestine (n=8), lung (n=2) or other (n=5). Final outcome was PR, SD and PD in 15, 13 and 2 patients, respectively. Patients with pancreatic NEN had superior response vs. small intestine NEN (p=0.01). Patients with PR at mid-treatment had higher PR rates at final evaluation than those with mid-term SD (p=0.008). On multivariable model, adjusted for age at diagnosis, grade, NEN type, and medical treatment, mid-treatment outcome was independently associated with final outcome (adjusted odds ratio 9.1, 95% confidence interval 1.4-60.4, p=0.02). Conclusions - Mid-treatment PRRT efficacy can serve as a measure of final outcome in patients with advanced or unresectable well differentiated NEN.
Presentation: Thursday, June 15, 2023
THU523 A Rare Case Of Functional Cervical Paraganglioma: Case Report
Authors: Oliveira Vitória Dupas , Vaccarezza Guilherme Cavazzani , Rodrigues Vieira Alysson Emannuel Neves , Scalissi Nilza Maria , dos Santos Américo Rubens Leite , Lazarini Paulo Roberto , Suehara Alexandre Baba , Olivati Caroline , Lima Jose Viana 
Published: October 2023

Abstract
Disclosure: V.D. Oliveira: None. G.C. Vaccarezza: None. A.E. Vieira: None. N.M. Scalissi: None. A.R. dos Santos: None. P.R. Lazarini: None. A.B. Suehara: None. C. Olivati: None. J.V. Lima: None.
INTRODUCTION: Head and neck paragangliomas (HNPGL) are rare tumors arising from cells associated with parasympathetic ganglia. Catecholamine hypersecretion is founded in less than 5% of the patients. Evidence is growing that about 50% of the HNPGL are associated with hereditary syndromes. CASE REPORT: Male patient, 34 years old, previously healthy, presented with a 1-year history of jaw pain and hypoacusis, associated with progressive symptoms of dysphagia, facial paralysis, dysphonia and hoarseness. He also had a 2-month history of hypertension and palpitations. On physical examination, the patient had deficits in cranial nerves (CN) VII, VIII, IX, X, XI and XII and blood pressure of 150x90mmHg. Head and neck MRI showed an expansive lesion occupying the right jugular foramen extending above the cistern at the cerebellopontine angle and below the carotid space in the ipsilateral infratemporal fossa, reaching 50% of the internal carotid artery and extending into the right internal auditory canal, suggestive of glomus jugulare paraganglioma. Laboratory examination showed normetanephrines 9.1 mmol/L (VR &lt; 0.9), confirming catecholamine-secreting paraganglioma. Next Generation Sequence (NGS) genetic testing evaluating 24 genes (ATM, DLST, EGLN1, EGLN2, FH, EPAS1 (HIF2A), HRAS, KIF1B , MAX, MDH2, MEN1 , MERTK , MET, NF1, RET, SLC25A11, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53 and VHL) was positive for the pathogenic variant c.166_170del:p.(Pro56Tyfs*5) of the SHDB gene. Patient with no family history of paraganglioma. Alpha-adrenergic blockade was started with doxazosin and, after two weeks, beta-adrenergic blockade with propranolol. After 3 months, he underwent preoperative embolization 48 hours before surgery with total tumor resection. Patient did not require antihypertensive drugs after surgery. CONCLUSIONS: We reported a case of a young patient diagnosed with catecholamine secreting HNPGL that carries pathogenic variant of SHDB.
Presentation: Thursday, June 15, 2023
THU526 Long-term Follow-up Of A Functional Gastroenteropancreatic Tumor Secreting Both Somatostatin And Gastrin
Authors: Zafar Rafia , Syeda Javeria Nasir , Rajamani Krishnakumar 
Published: October 2023

Abstract
Disclosure: R. Zafar: None. J. Syeda: None. K. Rajamani: None.
Introduction: There have been fewer than 200 cases of somatostatinoma reported since 1977. We report a case of a functional Gastroenteropancreatic neuroendocrine tumor (GEP-NET) secreting both somatostatin and gastrin. Clinical Case: A 55-year-old male with diabetes mellitus, chronic diarrhea, gastric ulcer, and cholelithiasis was referred to the endocrinology clinic for poorly controlled diabetes mellitus. He had a history of B-cell lymphoma of the thyroid treated by chemotherapy and radiation. He was found to have two paraduodenal masses by PET CT scan during surveillance for recurrence of lymphoma. Laboratory evaluation revealed elevated levels of insulin, glucagon, gastrin, somatostatin, and chromogranin A on multiple occasions both fasting and random. Ultrasound-guided endoscopic biopsy of the paraduodenal nodules was initially read as a neuroendocrine tumor. Subsequent immunohistochemical staining was positive for both somatostatin and gastrin. The stains were negative for glucagon and insulin. The Ki-67 proliferation index was less than 1%. The patient declined surgical treatment of the paraduodenal tumors. He underwent cholecystectomy for cholelithiasis. Gastric ulcers resolved with the use of proton pump inhibitors. His blood glucose was well controlled with insulin. Sequential CT/PET scans showed no change in the size of paraduodenal masses over a follow-up period of 14 years. Conclusion: GEP-NETs may secrete more than one type of hormone simultaneously. This case highlights a functional GEP-NET with clinical manifestations due to elevated levels of somatostatin and gastrin. Characterization of GEP-NETs by immuno-histochemical staining and hormonal analysis may help direct clinical management. Although many GEP-NETs are managed surgically, this case suggests that the Ki-67 proliferation index and sequential PET or CT scans may guide the nonsurgical management of functional GEP-NETs.
References: 1-Ganda OP et al. "Somatostatinoma": a somatostatin-containing tumor of the endocrine pancreas. N Engl J Med. 1977;296(17):963-7. 2-Hofland, J., Kaltsas, G., & de Herder, W. W. (2020). Advances in the diagnosis and management of well-differentiated neuroendocrine neoplasms. Endocrine Reviews, 41(2), 371-403. 3-M., Öberg, K., Falconi, M., Krenning, E. P., Sundin, A., Perren, A., & Berruti, A. (2020). Gastroenteropancreatic neuroendocrine neoplasms: ESMO Clinical Practice Guidelines for diagnosis, treatment, and follow-up. Annals of oncology, 31(7), 844-860.), 371-403.
Presentation: Thursday, June 15, 2023