bluuebunny/crossref_metadata_2025_split huggingface dataset:
7536 Missed Silent Retroperitoneal Paraganglioma
Authors: Lamichhane Shristi , Price David T , Faria-Briceno Judith J , Kaur Arshpreet 
Published: October 2024

Abstract
Disclosure: S. Lamichhane: None. D.T. Price: None. J.J. Faria-Briceno: None. A. Kaur: None.
Introduction: Paragangliomas are rare neuroendocrine tumors comprising about 15-20% of all chromaffin cell tumors and can arise anywhere along the sympathetic and parasympathetic ganglionic chain from skull base to the pelvic floor. About 75% of sympathetic paragangliomas arise in the abdomen out of which majority are functional and secrete catecholamines responsible for the typical clinical features. While the diagnosis is usually made by clinical features and lab elevation of catecholamines, it is estimated that 10-15% of paragangliomas are non-functional and another 10% do not manifest clinically according to the hormone activity, thus posing a significant diagnostic challenge. We report a case of a retroperitoneal paraganglioma diagnosed by biopsy as it was initially missed owing to its silent nature clinically and biochemically. Case report:A 48-year-old smoker with panic disorder, remote history of spontaneous pneumothorax, and exploratory laparotomy for motor vehicle accident visited ER due to left-sided abdominal fullness and weight loss of 10-20 pounds for several months. Review of systems was negative except for mild constipation. He denied taking any medications and BP had been normal. CT abdomen showed a large 13.3 cm mixed cystic and solid mesenteric mass. Core biopsy revealed pheochromocytoma and patient was referred to Endocrinology. Labs showed elevated plasma free metanephrines (MN) 80 pg/ml, normetanephrines (NMN) 190 pg/ml, total MN 270 pg/ml, all less than twice the upper limit of normal and inconclusive, non-elevated 24-hour urine MN and NMN but with inadequate collection, and normal plasma catecholamines. MRI revealed a 13.5 cm mass in the left retroperitoneal sympathetic chain separate from the left adrenal gland and inferior to the left kidney. After pre-op optimization with alpha and beta blocker, patient had an uncomplicated open resection of the mass along with the retroperitoneal lymph nodes (LN). Pathology resulted in 3 benign LNs, a 16.5 cm paraganglioma negative for margin, lymph-vascular invasion, and necrosis. Genetic panel was negative. Follow-up post-surgery at 1 and 3 months with mildly elevated catecholamines and MRI abdomen at 3 months without evidence of recurrent or residual mass and metastasis. PET scan is pending prior authorization. Conclusion: Silent retroperitoneal paragangliomas are exceedingly rare. The diagnosis is often missed when the tumors are asymptomatic, and biomarkers are not elevated. The lack of specific imaging characteristics also adds to the diagnostic challenge. Early recognition can avoid the potential risk of life-threatening hypertensive crisis during surgical intervention. Our case highlights the importance of considering this rare entity in the differential diagnosis of retroperitoneal mass.
Presentation: 6/1/2024
12544 Notch4 And Gbp7 Genetic Contribution To Primary Aldosteronism Pathology
Authors: Mohd Rizam Nurfatin Syazreen , Athirah Pauzi Fatin , Choy Mun-Kit , Williams Simon , Aminuddin Amnani , Abdul Latif Faeezah , Syed Mohammed Nazri Siti Khadijah , Mustangin Muaatamarulain , Chin Tan Geok , Wu Xilin , Ng Elisabeth , Laycock Kate , Sukor Norlela , Bahari Nasruddin Azraai , Jonathan Brown Morris , Keavney Bernard , Aisha Azizan Elena 
Published: October 2024

Abstract
Disclosure: N.S. Mohd Rizam: None. F.A. Pauzi: None. M. Choy: None. S. Williams: None. A. Aminuddin: None. F. Abdul Latif: None. S. Syed Mohammed Nazri: None. M. Mustangin: None. G. Tan: None. X. Wu: None. E. Ng: None. K. Laycock: None. N. Sukor: None. A.B. Nasruddin: None. M.J. Brown: None. B. Keavney: None. E.A. Azizan: None.
Primary aldosteronism (PA) is a common curable cause of hypertension (5-10% cases) yet markedly underdiagnosed. Heredity contributes 25-64% of inter-individual blood pressure variation. Genome-wide association studies have identified a proportion of these genetic factors, whole-genome sequencing (WGS) could provide deeper genetic resolution. We therefore performed WGS on PA patients to elucidate genetic contributors for aldosterone related hypertension. In PA patients of Malay or Black ethnicity, missense mutations in NOTCH4 were frequently encountered (21 of 100). Four of the seven mutations identified were rare (gnomAD allele frequency = 0) and damaging (CADD score &gt;20). The protein is a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 that regulates cell-fate determination. Whereas in Black PA patients or PA patients with no apparent adenoma, an enrichment of two rare missense mutations in GBP7 occurred compared to the global population (7 of 100). The mutations in GBP7 were verified as the encoded protein hydrolyzes GTP to GMP associated with the aldosterone synthesis pathway. Bulk adrenal expression of NOTCH4 and GBP7 were 11.7 and 1.145 transcript per million (TPM) respectively (data acquired from GTex). Single-cell analysis of human adrenals identified NOTCH4 to be expressed mainly in endothelial cells. Co-culturing of the endothelial cell line (HCMEC) with an adrenocortical cell line (HAC15) increased expression of CYP11B2, encoding the aldosterone synthase enzyme, by 1.82+0.37-fold (n=6, p=0.03). Overexpressing NOTCH4 and GBP7 in HAC15 increased CYP11B2 expression by 1.74+0.08-fold (n=16, p=0.000003) and 1.57+0.21-fold (n=24, p=0.001) respectively. In summary, NOTCH4 and GBP7 may highlight a novel pathway in PA pathology.
Presentation: 6/2/2024
8712 Pediatric Adrenocortical Oncocytic Neoplasm With Central Precocious Puberty: A Case Report
Authors: Huzita Claudia H , Lins Wallison M , Beeby Stephanie K , Lopes Roberto I , Denes Francisco T , Claudia Latronico Ana , Polo Marilia , Victor Carolina R , Hoff Ana A , Mendonca Berenice B , Almeida Madson Q , Barisson Villares Fragoso Maria Candida 
Published: October 2024

Abstract
Disclosure: C.H. Huzita: None. W.M. Lins: None. S.K. Beeby: None. R.I. Lopes: None. F.T. Denes: None. A. Latronico: None. M. Polo: None. C.R. Victor: None. A.A. Hoff: None. B.B. Mendonca: None. M.Q. Almeida: None. M.C. Fragoso: None.
Background: Adrenocortical oncocytic tumors (AOT) originate from the adrenal cortex. In the pediatric age group, they are rare and usually non-functional. Less than 20 cases of functional AOT have been reported and only one developed central precocious puberty. We describe the case of a patient with Li Fraumeni syndrome with germline TP53 pathogenic variant (PV) (p.R337H) who developed functional AOT and then central precocious puberty. ClinicalCase: A 2-year and 9-months old girl presented with pubic hair (Tanner stage P3S1) and clitoromegaly (2.6cm). Hormonal study showed elevated total testosterone (70ng/dL,ref. &lt; 48ng/dL), DHEA-S (13490 ng/mL,ref&lt;194 ng/mL) and a positive overnight 1mg dexamethasone suppression test (Cortisol5,8µg/dL). Abdominal ultrasonography showed a right round adrenal mass, which on magnetic resonance imaging (MRI) was well defined (50mm) and there was no evidence of invasion into adjacent organs or vessels. ChestX-ray and liver ultrasound imaging were normal.TheTP53 p.R337HPV was inherited from her father. The patient underwent a right adrenalectomy and oncocytic adrenocortical tumor was identified by histopathology (Biseglia score2/7, Wieneke score1/9 and Weiss score 5). Immunohistochemistry was positive for p53 and Ki67(13%). Following surgical removal of the tumor, the patient subsequently developed hypothalamic-pituitary activation and demonstrated central precocious puberty (Tanner P3S2 and advanced bone age). She was treated with a gonadotropin-releasing hormone agonist. Hormonal and clinical follow up demonstrated delayed pubertal progression. Discussion: AOT rarely presents with excess hormonal production. Herein we describe the case of the youngest child with functional AOT that developed central precocious puberty after the removal of the tumor. The mechanisms that cause hypothalamic-pituitary activation are not well understood, but prolonged exposure to androgen and then its withdrawal might lead to activation of hypothalamic GnRH pulse generated via a feedback system that has matured during the period of exposure to sex steroids.Therefore, clinical follow up of potential secondary effects of excess hormone secretion after tumor removal is important in pediatric patients with virilizing arenocortical tumor. In addition, considering Li Fraumeni syndrome, the screening of other tumors according to the Toronto protocol is required.
Presentation: 6/2/2024
7206 Perioperative Management of Pheochromocytoma: The Mayo Clinic Florida Experience
Authors: Verma A , Elli F , RAO S , Smith M , Shapiro A , Moshe C , Chadha R 
Published: October 2024

Abstract
Disclosure: A. Verma: None. F. Elli: None. S. Rao: None. M. Smith: None. A. Shapiro: None. C. Moshe: None. R. Chadha: None.
Introduction: Pheochromocytomas are rare, neuroendocrine tumors derived from chromaffin cells of the neural crest, typically within the adrenal medulla. The pathophysiologic effect of primary concern is the uncontrolled release of catecholamines into the bloodstream, which carry risk for episodic hypertension, palpitations, and life-threatening crises. Preoperative preparation with drugs that block adrenergic receptors is utilized to improve hemodynamic oscillation force and surgical outcomes. Widely used premedication include alpha-blockers, beta-blockers, and calcium channel blockers. Despite adequate pretreatment, hemodynamic instability continues to evoke massive risk. The objective of this study was to assess the incidence of intraoperative hypertensive episodes in patients undergoing robotic assisted laparoscopic adrenalectomy. Methods: This study is an observational retrospective analysis of patients who underwent elective laparoscopic robotic-assisted adrenalectomies from February 2019 to April 2023. 17 patients total patients were included. Preoperative information included age, BMI, ASA physical classification, preoperative blockade regiment, and urine metanephrines. Intraoperative information included operation duration, tumor size, intraoperative anti-hypertensives, and hypertensive spikes defined as a SBP greater than 175 mmHg for 5 consecutive minutes. Data analysis was performed to obtain frequency counts (%), means (standard deviations), and median (range) as appropriate. Results: The mean age at the time of surgery was 57.12 ± 17.2 years. The majority of patients (76%) were ASA status class III. 7 of the 17 patients did not have active pheochromocytoma based on symptomatology, the incidental diagnoses being made by imaging and workup. The average tumor diameter was 3.90 ± 1.8, with a range of 2.0 - 8.0. Mean operative time was 153.76 ± 53.9 minutes. Preoperative urinary metanephrines were observed to have a mean of 1,248.44 ± 2,866.9 pg/mL. In terms of preoperative preparation, 65% of patients received Doxazosin, and 29% of patients received an alternative anti-hypertensive. Yet, 64.7% of patients were found to have at least 1 intraoperative hypertensive spike Conclusion: Despite premedication with anti-hypertensives, a significant percentage of patients experienced intraoperative hemodynamic instability. This emphasizes the importance of anesthesiologist preparation for intraoperative hypertension management to aggressively prevent hypertensive crises. In addition, it questions the routine use of alpha blockade for all cases preoperatively as has been suggested in certain studies, and whether or not it should be driven by other patient characteristics.
Presentation: 6/1/2024
8563 Pheochromocytoma Screening In A Patient With Neurofibromatosis Type I And Medication-Resistant Hypertension
Authors: Mora Eduardo , Bolduc Aaron , Elshimy Ghada 
Published: October 2024

Abstract
Disclosure: E. Mora: None. A. Bolduc, MD: None. G. Elshimy: None.
Title: Pheochromocytoma Screening in a Patient With Neurofibromatosis Type I and Medication-Resistant Hypertension Background: Patients with neurofibromatosis type I (NF1) have a higher risk of pheochromocytoma and it may be missed if no screening done, thus placing the patient at risk of stroke and/or myocardial infarction. The prevalence of pheochromocytoma in patients with NF1 is 2.9% according to a retrospective cohort study by Gruber et al. We present a case of biochemically silent pheochromocytoma in a patient with NF1 and resistant hypertension Clinical case: A 74-year woman with NF1 presented with episodic headaches and labile systolic blood pressure (BP) in the 170-200s mm Hg on three different antihypertensives consistent with pheochromocytoma. Initial tests for renal artery stenosis and pheochromocytoma showed normal plasma MN (0.43 nmol/L, n&lt; 0.50 nmol/L) and NM (0.86 nmol/L, n&lt; 0.90 nmol/L), and normal flow in both renal hila by color Doppler and no large suprarenal masses identified on retroperitoneal US. Duplex imaging of the bilateral kidneys showed no evidence of renal artery stenosis. CT of abdomen/pelvis with and without IV contrast showed a 1.6 cm nodule on Right (RT) adrenal gland that measured 36 HU on unenhanced phase with an absolute washout of 67%. No discrete nodule in Lt adrenal gland. Dotatate PET/CT revealed a Rt adrenal nodule with elevated asymmetric activity (measured 28.1 standardized uptake values (SUV), n for liver: max 12.3, spleen: max 23.5) relative to the normal physiologic activity of the Leftt adrenal gland, which is concerning for pheochromocytoma. The patient was then referred to our endocrine clinic for further evaluation 6 months after the initial presentation. Labs showed normal aldosterone (5.8 ng/dL, n≤39.2 ng/dL), cortisol (7.66 mcg/dL, n: 3.09-22.40 mcg/dL), ACTH (20 pg/mL, n: 7.2-63 (AM collection), and DHEA-S (28 mcg/dL, n:5.3-124 mcg/dL). Normal repeat plasma MN (0.38 nmol/L, n&lt; 0.50 nmol/L) and NM (0.46 nmol/L, n&lt; 0.90 nmol/L). Repeat CT adrenal washout redemonstrated 1.4 cm Rt adrenal nodule that measured 39 HU on non- contrast image with an absolute washout of 68%. Patient will have a surgical resection of the Rt adrenal biochemically silent pheochromocytoma next week and she has been receiving an alpha-blocker prior to surgery to decrease risk for labile BP. Discussion and Conclusion: This case illustrates how CT and DOtatate scan findings can alert providers to the presence of a pheochromocytoma, even in biochemically negative patients. We recommend pheochromocytoma screening in all patients with NF1 to prevent delayed diagnosis and complications of untreated pheochromocytoma.
Presentation: 6/1/2024
7783 Pheochromocytoma Unusually Presenting As Intestinal Pseudo-Obstruction: A Case Report
Authors: Chua Jessa Marie V , Cunanan Elaine C , Sazon Joseph Francis G , Reyes Joannalyn L 
Published: October 2024

Abstract
Disclosure: J.V. Chua: None. E.C. Cunanan: None. J.G. Sazon: None. J.L. Reyes: None.
Introduction: Pheochromocytoma is a rare neuroendocrine tumor that arises from the adrenal medulla. It may present with a variety of symptoms that can resemble other diseases as a result of the effects of catecholamine overproduction on the different organ systems of the body, occasionally making diagnosis difficult and delaying appropriate treatment.Intestinal pseudo-obstruction is an unusual presentation of pheochromocytoma from the effects of excessive catecholamines on the gastrointestinal system, resulting in decreased peristalsis with constriction of the sphincter muscles, consequently prolonging intestinal transit time. Currently, there is no available data on its incidence or prevalence rate. Clinical Case: This is a case of a 50-year-old Filipino male initially presenting with abdominal pain and enlargement with inability to pass stool and flatus, not relieved by laxatives, enemas, and nasogastric and rectal tube decompression. Abdominal radiograph revealed segmental ileus versus partial large bowel obstruction, while abdominal CT scan showed fecal impaction and an incidental finding of an enhancing adrenal mass on the left adrenal gland. Colonoscopy findings were unremarkable. Laboratory workup demonstrated elevated 24-hour urine metanephrine levels with a value of 44.62 mg/24 hours (normal value: 0-1.0 mg/24 hours). The patient was initially managed conservatively, but no improvement in symptoms was noted. Pre-operative preparation was done with terazosin and intravenous saline infusion, and the patient then underwent left open adrenalectomy with bowel decompression, which provided resolution of symptoms and resumption of regular bowel movement post-operatively. The final result of the histopathologic examination confirmed the diagnosis of pheochromocytoma. Conclusion: Gastrointestinal symptoms such as ileus and pseudo-intestinal obstruction are uncommon presentations of pheochromocytoma. A high index of suspicion is necessary among patients presenting with these symptoms, and pheochromocytoma should be considered as part of the differential diagnosis.
Presentation: 6/1/2024
7094 Post Unilateral Adrenalectomy Hyporeninemic Hypoaldosteronism: Requiring Long Term Fludrocortisone In Managing Hyperkalemia And Renal Dysfunction
Authors: Rani Richa , Bidani Khyati , Roy Roopa 
Published: October 2024

Abstract
Disclosure: R. Rani: None. K. Bidani: None. R. Roy: None.
Adrenalectomy, seen as a potentially curative measure for unilateral aldosterone-producing adenoma (APA), targets both biochemical and clinical resolution. However, postoperative challenges may arise, including acute renal failure and hyperkalemia, due to inadequate aldosterone secretion, a consequence of prolonged suppression of the renin-angiotensin-aldosterone system (RAAS) on the contralateral side. Our case underscores the postoperative challenge of isolated aldosterone deficiency leading to renal function deterioration and hyperkalemia, necessitating fludrocortisone therapy. We are presenting case of 71-year-old male with a history of uncontrolled hypertension for over 30 years with hypokalemia (taking KCL 20mEq daily). Initial laboratory findings revealed elevated aldosterone levels 79ng/dL and an aldosterone-to-renin ratio (ARR)&gt; 20, K- 3.2mmol/L, creatinine 1.32mg/dl, Na-145 mmol/L with normal cortisol and plasma metanephrines levels. CT abdomen disclosed a 21 x 18 mm right adrenal adenoma, with subsequent confirmation of lateralization through Adrenal vein sampling. The patient underwent right adrenalectomy. Two weeks post-surgery, he presented to the emergency department with symptoms of fatigue and weakness. Laboratory results indicated hyperkalemia (K- 6.5 mmol/L) and elevated creatinine (3.52mg/dl) with undetectable aldosterone and renin levels. Urinalysis and CT abdomen ruled out other causes of acute renal injury. Initial management included intravenous fluids and Potassium supplementation. However, due to persistent hypokalemia, the patient was initiated on fludrocortisone (0.1 mcg daily). Subsequent follow-up demonstrated improvement in renal function and potassium levels, however, his aldosterone and renin levels remain undetectable. Hyperkalemia incidence post-adrenalectomy in primary aldosteronism (PA) ranges from 6.3% to 29.1%. Notably, older age and preexisting impaired renal function, particularly in cases with prolonged hypertension are identified as potential risk factors for postoperative hyperkalemia and renal failure. Understanding the potential for a further decline in the glomerular filtration rate (GFR) post-surgery becomes crucial. This decline might manifest as a transient or permanent issue, necessitating prolonged fludrocortisone treatment. This case highlights the importance of tailored preoperative assessment and postoperative management to mitigate complications in high-risk populations.
Presentation: 6/1/2024
7859 Primary Hyperaldosteronism And Mild Autonomous Cortisol Secretion (MACS) In Adrenal Incidentaloma
Authors: Chanturishvili Ketevan , Gvazava Qetevan , Zavrashvili Nino 
Published: October 2024

Abstract
Disclosure: K. Chanturishvili: None. Q. Gvazava: None. N. Zavrashvili: None.
An adrenal incidentaloma is a mass lesion greater than 1 cm in diameter, discovered by radiologic examination, performed for another reason. Widespread use of imaging studies in everyday clinical practice has led to the increased rates of adrenal incidentalomas. Two main questions arise after discovering adrenal mass: is it malignant or benign, and is the mass hormonally active?We present a case of a 55 years old male, with a history of obesity (BMI 35).He had no significant past medical history and was not taking any medications.He presented to our clinic with an upper respiratory tract infection and shortness of breath. Chest CT was done to evaluate for possible pneumonia, where 46 x 30 cm adrenal incidentaloma with -5 HU was discovered.He was referred to our department for endocrine evaluation.Initial assessment revealed previously unknown hypertension with left ventricular hypertrophy. Laboratory workup revealed high aldosterone, suppressed renin, low normal ACTH and DHEA-S, positive 1-mg overnight dexamethasone suppression test (DST- 2.66 ug/dL) and 8-mg DST (2.26 ug/dL).Additionally, the metabolic panel showed prediabetes and hyperlipidemia.Diagnosis of adrenal macroadenoma with cortisol and aldosterone co-secretion was made.Unilateral adrenalectomy was planned. Possible postoperative adrenal insufficiency has been established. Recommendation for proper glucocorticoid coverage was given.In conclusion, evaluation of the functional status of adrenal tumors is essential to uncover hidden medical issues, as s well as to properly guide the patient for intra and postoperative management, avoiding the risks of adrenal insufficiency with proper glucocorticoid coverage. Surgical management of hormonally active adrenal incidentalomas, especially larger &gt;2.4 cm, has potential benefit of improving and preventing metabolic abnormalities: hyperglycemia, dyslipidemia as well as comorbidities such as obesity, hypertension and osteoporosis.
Presentation: 6/1/2024