bluuebunny/crossref_metadata_2025_split huggingface dataset:
8769 A Case of Metastatic and Catecholamine Producing Bilateral Pheochromocytoma in a Patient with RET Gene Mutation
Authors: Amelia Mayers Raisa , Szafran-Swietlik Anna 
Published: October 2024

Abstract
Disclosure: R.A. Mayers: None. A. Szafran-Swietlik: None.
RET mutation, observed in multiple endocrine neoplasia type 2 syndromes, is implicated in the development of pheochromocytomas of the kinase signaling cluster. Such tumors have lower metastatic risk and adrenergic production compared to the ones from the other clusters. We present a case of a metastatic, bilateral, small and biochemically active pheochromocytoma .This is the case of a 27-year-old man diagnosed with MEN 2A. He underwent total thyroidectomy due to medullary thyroid carcinoma at 2 years old. He was deemed cured and started on levothyroxine replacement. Since then, his plasma metanephrines by liquid chromatography-mass spectrometry and urine metanephrines done in a yearly basis as screening, were always within range of normality. Over the years, he developed substance abuse disorder with use of Kratom and methamphetamines and was admitted in a rehabilitation center multiple times in the last three years. During this time, the patient was reported to be slightly tachycardiac which was initially attributed to the use of substances. On the last year, an echocardiogram done as evaluation of his tachycardia showed an ejection fraction of 35%. Later, his annual metanephrine levels were markedly elevated (free metanephrine: 137 pg/mL and free normetanephrine : 157 pg/mL, normal ranges reported as less than 57 pg/mL and less than 148 pg/mL respectively). Abdominal tomography showed a right adrenal nodule of 1.2 cm and a left adrenal nodule of 1.6 cm, both with more than 10 Hounsfield Units. A Metaiodobenzylguanidine scan revealed a left adrenal nodule of 1.8 cm with diffuse radiotracer uptake, a right adrenal nodule of 1.2 cm with radiotracer activity and 3 subtle areas of focally increased radiotracer activity in the liver, two in left hepatic lobe and other in posterior right upper lobe. He underwent bilateral adrenalectomy with cortical sparring. Pathology results evidenced a left adrenal with a unifocal mass of 1.8 cm and a right adrenal with a mass of 1.2 cm , both without lymphovascular, capsular, local invasion or necrosis, a mitotic rate of 1-2 without atypical mitosis, not encapsulated with clean margins and positive for synaptophysin , chromogranin and S100 stains. An additional mass of 0.7 cm on the right adrenal gland was described with similar characteristics to the described before except for the involvement of the surgical margins. Currently on the literature there are different opinions regarding screening approach for pheochromocytomas in the presence of RET mutations. There are not strong recommendations regarding the use of imaging as a screening tool in this group of patients. It is important to consider that there are cases, as the one described in this report, that might present metastatic disease even with the presence of small pheochromocytomas that belong to the cluster of kinase signaling.
Presentation: 6/3/2024
7698 A case of Pheochromocytoma in a patient with severe aortic stenosis
Authors: Lane Chelsea , Aguirre Lina E , Azocar-Villalobos Jorge Luis , Dorin Richard I 
Published: October 2024

Abstract
Disclosure: C. Lane: None. L.E. Aguirre: None. J. Azocar-Villalobos: None. R.I. Dorin: None.
Background: Pheochromocytomas are rare neuroendocrine tumors derived from chromaffin tissue of the adrenal medulla and can secrete catecholamines. Pre-operative management of pheochromocytoma involves initiation of a- followed by b-adrenergic receptor blockade. In critical aortic stenosis (AS), adrenergic blockade may be complicated by decreased cardiac output and hypotension owing to dependence of venous return on maintenance of high afterload (1). We report a case of critical AS and incidentally discovered pheochromocytoma and describe our management strategy, which involved prioritization of aortic valve repair prior to adrenal surgery and multidisciplinary approach to initiation and titration of a- and b-adrenergic blockade prior to cardiac catheterization and transcutaneous aortic valve replacement (TAVR) procedures. Clinical Case: A 75-year-old Caucasian male with past medical history of obstructive sleep apnea, tobacco use, and cocaine use disorder was admitted with progressive dyspnea, decreased exercise tolerance, and involuntary weight loss of 18 kg over 3 months, and community acquired pneumonia. On admission, he was found to have critical aortic stenosis (valve area of 0.59 cm2, mean gradient 83 mmHg) and new HFrEF (EF 40-45%). CT chest demonstrated incidental right adrenal mass (5.6 x 5.0 x 4.7 cm) with central necrosis, HU units &gt;10, and evidence of internal hemorrhage. Subsequent laboratory and functional imaging studies confirmed diagnosis of pheochromocytoma. Pre-procedural a-adrenergic blockade with doxazosin followed by beta-blockade was managed by a multidisciplinary team with ICU admission for monitoring and uncomplicated completion of cardiac catheterization and TAVR. Conclusions: Pre-procedural diagnosis of pheochromocytoma, multidisciplinary management, and intensive care setting for monitoring hemodynamic response to initiation and titration of a and b-adrenergic blockade appeared to be key factors in achieving uncomplicated completion of cardiac interventions prior to surgical resection of pheochromocytoma and critical AS. Successful TAVR was associated with marked improvement in hemodynamic status. Maintenance of b-adrenergic blockade to reduce myocardial contractility was critical to preservation of the prosthetic aortic valve and in preparation for planned robotic resection of the pheochromocytoma. References: 1. Feinstein I, Lee T, Khan S, Raleigh L, Mihm F. A case report of an open aortic valve replacement followed by open adrenalectomy in a patient with symptomatic pheochromocytoma and critical aortic stenosis. J Cardiothorac Surg. 2021 28;16(1):282. 2. Yang et al. Yang et al. BMC Anesthesiology (2023) 23:18
Presentation: 6/1/2024
7764 A Case of Primary Hyperaldosteronism With Negative Imaging Findings -Diagnostic Approach and Outcome in a Decade
Authors: Datta Gupta Uma , Al-Ghuraibawi Muthanna , Abdulhussein Roua , Panigrahi Kalpana , Deribe Zewge 
Published: October 2024

Abstract
Disclosure: U.D. Gupta: None. M. Al-Ghuraibawi: None. R. Abdulhussein: None. K. Panigrahi: None. Z. Deribe: None.
Distinguishing between the various subtypes of primary hyperaldosteronism (PHA) poses a clinical challenge. Nevertheless, it is notable that primary hyperaldosteronism is a prominent contributor to secondary hypertension, accounting for less than 1% of cases. The triad of hypertension, hypokalemia, and metabolic alkalosis demands screening for PHA. While bilateral adrenal hyperplasia and aldosterone-producing adenomas (APA) are common, rarer forms like unilateral adrenal hyperplasia and glucocorticoid-responsive aldosteronism can also occur. In our case, a 61-year-old patient has been diagnosed and treated for primary hyperaldosteronism for last 10-years. Presently, the patient is undergoing management for blood pressure with a medication regimen comprising Amiloride, Nifedipine, Minoxidil, Atenolol, and Eplerenone over the past decade. No abnormal findings were observed in the computed tomography or magnetic resonance imaging of the adrenal gland, and adrenal venous sampling test results were non-conclusive. The patient has exhibited favorable outcomes with medications, also subsequent imaging has not revealed the presence of an adrenal mass. This case is presented as unique due to its atypical presentation, characterized by the absence of anatomical lesions in the adrenal gland and non-conclusive sampling test results. Nevertheless, the patient responded positively to treatment, supported by the diagnostic significance of preliminary lab tests for primary hyperaldosteronism (aldosterone level: 20.5; plasma renin activity: 0.19, initially aldosterone levels were 17 and 7 before and after saline infusion). Notably, literature acknowledges that the aldosterone-producing adenomas (APAs) can be very small, sometimes &lt;3 mm in diameter, and lesions &lt;1 cm may be overlooked on CT scans. The limitation of adrenal venous sampling (AVS) is the challenge in obtaining good sample due to technical difficulties and variations in local expertise, success rates in AVS may vary. This case exemplifies the diagnostic complexities encountered in primary hyperaldosteronism cases, where imaging and adrenal venous sampling, though frequently recommended, may pose challenges. In conclusion, we share insights from this case and its treatment outcome. Clinically, a thorough assessment of symptoms, along with laboratory results, is crucial for diagnosis and treatment and further categorization may be challenging without imaging and adrenal venous sampling.
Presentation: 6/3/2024
7988 A Case of Spontaneous Pituitary Hemorrhage in Late Pregnancy
Authors: Poudyal Dinesh , Prince Grace L 
Published: October 2024

Abstract
Disclosure: D. Poudyal: None. G.L. Prince: None.
Background: Pituitary apoplexy (PA), caused by hemorrhage into the pituitary gland, is rare. The prevalence in pregnancy is also quite rare, with PA complicating 1 in 10,000 pregnancies. PA usually occurs in patients with pre-existing pituitary adenomas. Spontaneous pituitary hemorrhage (PH) causing PA in the absence of a known adenoma or other precipitating factors is less frequently described. Presenting symptoms of PA are non-specific and can pose diagnostic challenges, yet PA must be managed urgently and decisively due to the risk of life-threatening hormonal deficiencies that can ensue. Physiologic changes in pregnancy pose additional challenges in evaluating and managing patients with possible PA. Here we present a case of spontaneous PH during the third trimester of pregnancy in the absence of pre-existing pituitary pathology or known precipitants. Case presentation: A 31-year-old female, G2P1, with an uncomplicated first pregnancy, presented with acute-onset headache and vision loss at 36 weeks gestation. Her symptoms resolved spontaneously in 45 minutes. MRI brain without contrast showed hemorrhage within the left aspect of the pituitary gland, a mildly displaced infundibulum, but no mass effect on the optic chiasm. MRI brain obtained 1 year prior for headache was unremarkable. Lab work showed an 8AM cortisol of 19 ug/dL (Ref range 3.7 - 19.4 ug/dL), and a total T4 of 11.3 ug/dL (Ref 4.9 - 11.7 ug/dL). Ultimately, interpretation of her cortisol testing was limited by: elevated cortisol-binding globulin in the high-estrogen state of pregnancy, elevated cortisol production by an intact hypothalamic-pituitary-adrenal (HPA) axis during the latter portion of pregnancy, and the lack of validated cutoff values for 8AM serum cortisol levels during pregnancy. In light of these factors and the risk of undiagnosed adrenal insufficiency (AI), she was treated empirically with oral hydrocortisone. Subsequently, she had an uneventful vaginal delivery, supported by stress dosing of her steroids. Postpartum, she had a normal 8AM cortisol level of 14 ug/dL, and she was noted to quickly begin breastfeeding without incident. Conclusion: PA remains a critical diagnosis that cannot be missed in patients presenting with concerning symptoms and signs, in order to identify and treat life-threatening hormonal deficiencies. Pregnancy poses unique challenges in diagnosing hormonal deficiencies such as AI due to normal physiologic changes affecting the HPA axis as well as other pituitary axes. Therefore, the benefit of empiric hydrocortisone treatment likely outweighs any associated treatment risk in cases with consistent symptomatology and radiographic findings.
Presentation: 6/2/2024
8479 A Challenging Case of Hypercortisolism in an Adult Patient With McCune Albright Syndrome
Authors: Chary P Kesavan , Jasim S 
Published: October 2024

Abstract
Disclosure: P. Kesavan Chary: None. S. Jasim: None.
Background: McCune Albright Syndrome (MAS) is a rare genetic disorder that occurs due to a spontaneous post-zygotic missense mutation in the GNAS gene resulting in activating gain of function mutations in G-proteins. MAS classically presents as a triad of café-au-lait skin pigmentation, fibrous dysplasia of bone, and precocious puberty. However, continuous autonomous stimulation of endocrine glands can also result in various other endocrinopathies. We present a rare case of hypercortisolism due to bilateral multinodular adrenal hyperplasia (BMAH) in an adult patient with MAS. Case Report: A 38 year old female had MAS, clinically manifested by precocious puberty, renal phosphate wasting with rickets and osteomalacia, fibrous dysplasia of bone with history of multiple fractures, growth hormone excess, and multinodular thyroid status-post total thyroidectomy. A surveillance CT abdomen showed bilateral (right 3.8 x 1.3 cm and left 1.0 x 0.9 cm) adrenal adenomas with low intrinsic attenuation and washout. On diagnosis, the patient had an AM cortisol of 32.5 ug/dL (6.2-19.4 ug/dL) after a low-dose dexamethasone suppression test (DST), and an AM cortisol of 27.3 ug/dL after a high-dose DST. Late night salivary cortisol was 0.518 ug/dL (&lt;0.010-0.090 ug/dL), 24-hour urine cortisol was 78 ug/24hrs (6-42 ug/24hrs), and ACTH was &lt;1.5 pg/mL (7.2-63.3 pg/mL). The patient was initially asymptomatic and monitored for a few months, but subsequently developed easy bruising, recurrent skin infections, and irritability. The patient declined surgical intervention and was initiated on Osilodrostat. Shortly after medication initiation, she was hospitalized for perforated diverticulitis, hypokalemia, and hypomagnesemia. During hospitalization, AM Cortisol was 49 mcg/dL (4.8-19.5 mcg/dL) and 24-hour urine cortisol was 1023 mcg/24hrs (normal range 3.5-45 mcg/24hrs; the patient’s level prior to admission was 170-190 mcg/24hrs). Osilodrostat was held and the patient was initiated on Etomidate infusion. Once plasma cortisol levels normalized, she resumed Osilodrostat prior to discharge. The patient subsequently tried multiple medical therapy options before undergoing a bilateral adrenalectomy as a definitive treatment choice. Conclusion: The gain of function mutations in MAS result in autonomous endocrine gland function that can manifest clinically as various endocrinopathies. While the most common endocrinopathies in MAS are precocious puberty, hyperthyroidism, and pituitary dysfunction, active surveillance is critical to monitor for less common presentations such as hypercortisolism. This is the first report of adrenal Cushing’s in an adult patient with MAS.
Presentation: 6/3/2024
8621 A Challenging Case of Preoperative Management of Pheochromocytoma Presenting With Recurrent Hypotension
Authors: Shripad Namratha , Arif Aneela , Osman Radwa 
Published: October 2024

Abstract
Disclosure: N. Shripad: None. R. Osman: None.
Introduction: Pheochromocytoma is a neuroendocrine tumor that clinically manifests due to the hypersecretion of catecholamines. Preoperative management typically involves alpha- and beta-adrenergic blockade. Patients commonly present with hypertension; however, in rare cases, patients may be hypotensive due to other comorbidities, posing a challenge to preoperative management. The following is a case of management of a pheochromocytoma with recurrent preoperative hypotension before the initiation of blood pressure-lowering agents. Case: A 47-year-old female presented to the hospital with dizziness and hypotension. The patient has a history of bilateral nephrectomy with left-sided adrenalectomy secondary to left-sided renal cell cancer and is hemodialysis-dependent. A right-sided pheochromocytoma was diagnosed a year ago on a follow-up CT scan done for monitoring renal cell cancer. The diagnosis was later confirmed with a DODATE scan and, eventually, a biopsy. Normetanephrine levels were between 581-735 pg/mL (0-88 pg/mL), with normal metanephrine levels. She denies having hyperadrenergic spells. She was started on metoprolol and doxazosin the year prior to presentation; however, she self-discontinued doxazosin after experiencing dizziness and palpitations on hemodialysis days. On admission, she was afebrile with a blood pressure of 103/66 mm Hg and a heart rate of 115 BPM. After an interdisciplinary decision was made for surgical resection, she was restarted on a lower dose of doxazosin (1 mg) and metoprolol was increased to the goal heart rate. Despite fewer hypotensive episodes on a reduced dose of doxazosin, the patient remained hypotensive on hemodialysis days. Salt tablets were started post-dialysis after clearance from nephrology, and an improvement in blood pressure was noted. She underwent a right adrenalectomy without receiving saline infusion before surgery due to concerns about volume overload. She was started on stress dose steroids due to her history of left adrenalectomy. She remained stable during and following surgery and did not require any vasopressor support. Discussion: Perioperative management of pheochromocytoma can be challenging in hypotensive patients and is poorly documented. Midodrine, an alpha-1 agonist that is typically used in dialysis-induced hypotension, is contraindicated in the setting of pheochromocytoma. We opted to manage our patient with a reduced dose of doxazosin and beta-blocker initially; however, with continued hypotensive episodes, the addition of salt tablets preoperatively on dialysis days helped to alleviate the hypotension. Although our patient did not require it, a preoperative overnight albumin infusion is a viable alternative to saline to prevent volume overload. Despite the limited literature, the patient was treated successfully through an interdisciplinary approach.
Presentation: 6/3/2024
7677 A Novel Cause of Resistant Hypertension: Paraganglioma and Conn's Syndrome
Authors: Belal H F , Minns R M , Chehade J M , Koch C A 
Published: October 2024

Abstract
Disclosure: H.F. Belal: None. R.M. Minns: None. J.M. Chehade: None. C.A. Koch: None.
Background: Concomitant hyperaldosteronism (PA) and pheochromocytoma (PHEO) are extremely rare causes of hypertension. We present a novel case of concurrent PA and paraganglioma (PARA). Clinical Case: A 37 year old Ghanaian female with prior history of hypertension presented on referral with asymptomatic resistant hypertension and hypokalemia. Patient had developed hypokalemia (2.7 mEQ/L, 3.5-5.1 mEQ/L) after caesarean section for pre-eclampsia; discharged with hydralazine, labetalol and nifedipine. Labs on initial consultation showed hypokalemia 2.7 mEQ/L (3.5-5.1 mEQ/L), elevated plasma aldosterone 133.4 ng/dL (0.0-30.0 ng/dL), renin 0.815 ng/mL/hr (0.167-5.38 ng/mL/hr), elevated norepinephrine 1139 pg/mL (0-874 pg/mL), elevated chromogranin A 175.6 ng/mL (0.0-101.8 ng/mL); normal epinephrine, dopamine, DHEAS. Twenty-four-hour urine (volume 2,700 ml): elevated normetanephrine 967 mcg/24 hr (131-612 mcg/24 hr); normal urine metanephrine and free cortisol. Adrenal CT and MRI revealed left adrenal lesion 1.3 x 1.2 x 1.1 cm (pre-contrast Hounsfield Unit 13, absolute washout 74%), adjacent extra-adrenal 1.8 x 1.6 x 1.6 cm lesion near left renal vein chain (MRI T2 hyperenhancement) and no right adrenal lesions. She was started on prazosin 1 mg qd, spironolactone 25 mg qd, telmisartan 40 mg qd and potassium chloride 20 mEq TID for three weeks prior to left adrenalectomy and left retroperitoneal mass resection. Pathology revealed left adrenal cortical adenoma and left retroperitoneal PARA (positive synaptophysin, chromogranin, S100; preserved SDHB expression; Ki67 index 2%). Postoperatively blood pressure was controlled with amlodipine alone. Postoperative plasma/24 hour urine aldosterone, metanephrine, catecholamine and plasma renin, potassium were all normal. Conclusion: This is the first case, to our knowledge, of extra-adrenal PARA and Conn's Syndrome. Mao et al reviewed 7724 adrenal masses and found fifteen cases of concurrent PA and PHEO, but no concurrent PA and PARA [1]. Hypokalemia is rare yet more common (87%) in concurrent PA/PHEO than PA alone (28%)[1]. Management of concurrent PA and PHEO is primarily focused on medical bridging to a surgical cure while conserving adrenal function. As our case demonstrates, while exceedingly rare, it is important to work up adrenal masses to ensure that concurrent lesions are not missed. We propose a potential mechanism for concurrent lesions of PHEO/PARA could be concurrent germline mutations in genes triggering PA and in genes triggering PPGL syndromes.2References: 1. Mao JJ, Baker JE, Rainey WE, Young WF, Bancos I. Concurrent Pheochromocytoma and Primary Aldosteronism: A Case Series and Literature Review. J Endocr Soc. 2021;5(8):bvab107. 2. Kimura N, Koch CA, et al. Extraadrenal paragangliomas. pp.190-195. in: Lloyd RV et all. (Eds). WHO classification of tumors of endocrine organs (4th edition). IARC, Lyon 2017
Presentation: 6/2/2024
6637 A Rare Case of a Possible Non-functional (Clinically Silent Biochemically Negative) Adrenal Pheochromocytoma
Authors: Kumar Babu Vedesh , Corwin Michael T , Olatunbosun Samuel T 
Published: October 2024

Abstract
Disclosure: V.K. Babu: None. M.T. Corwin: None. S.T. Olatunbosun: None.
Introduction: Adrenal pheochromocytomas (pheo) are rare neuroendocrine tumors arising from the chromaffin cells of the adrenal medulla. Their incidence is around 0.8 per 100,000 patient years. They are usually sporadic, with about 40% having a pre-existing familial genetic disease. About 3% of adrenal incidentalomas prove to be pheo. They have a heterogenous presentation and are diagnosed by measuring urinary and plasma fractionated metanephrines (met) and catecholamines (catecho). The diagnosis becomes challenging in patients presenting with small tumors and normal levels of biochemical metabolites, as in our patient. Clinical Case: A 32-year-old male with no significant past medical history was referred to us with a left adrenal incidentaloma of 1.2 cm x 1 cm with 23 Hounsfield units during a non-contrast CT scan performed for abdominal pain. He denied spells of headaches, excessive perspiration, palpitations, history of hypertension, hypokalemia, history of kidney stones, fractures, muscle weakness, easy bruisability, new abdominal striae, change in weight, steroid use, or family history of endocrine tumors. MRI with adrenal protocol 3 months later showed a 1.2 cm x 1.4 cm left adrenal nodule that was markedly hyperintense on T2-weighted and hypointense on T1-weighted images without microscopic fat, suspicious for a pheo. It also demonstrated peripheral enhancement with progressive central filling on the delayed images without washout. Plasma met and catecho were normal: normetanephrines (normet) (45.2 pg/mL), met (36.4 pg/mL), epinephrine (epi) (34 pg/mL), norepinephrine (norepi) (295 pg/mL) and dopamine (&lt;30 pg/mL). Subsequent 24-hour urine testing revealed normal met (155 mcg/day, 154 mcg/day), and normal normet (248 mcg/day, 236 mcg/day) on two separate occasions, and normal epi (9 mcg/L), norepi (36 mcg/day), and dopamine (228 mcg/day). The patient was subsequently referred to Endocrine Surgery for evaluation. Conclusion: Our patient likely has a non-functional pheo. Another possibility is an adrenal hemangioma, which would show discontinuous peripheral nodular enhancement in addition to progressive central filling. Patients with pheo less than 2 cm may present with normal biochemical testing. The size of a pheo is usually proportional to the levels of its biochemical metabolites. This case is unique because patients with a similar sized pheo are expected to have 3 times higher levels of plasma met and catecho, even if still within normal limits. It is important to take tumor size into consideration when interpreting labs to determine its functional status. This may help in determining the need for a pre-operative alpha blockade prior to adrenal surgery. A definitive diagnosis of a pheo’s non-functional status can only be confirmed after histopathological examination of the tumor tissue.
Presentation: 6/3/2024