bluuebunny/crossref_metadata_2025_split huggingface dataset:
7460 An Atypical Presentation of a Nonfunctional Pituitary Macroadenoma Found in a Patient with Chronic Sinusitis
Authors: Patel A A , Mai V Q 
Published: October 2024

Abstract
Disclosure: A.A. Patel: None. V.Q. Mai: None.
Non-functioning pituitary adenomas (NFPAs) are benign pituitary tumors that account for up to one third of all pituitary adenomas. The vast majority of NFPAs are incidentally found on head or brain imaging performed to evaluate for other medical problems. We present a unique case of a NFPA incidentally found via biopsy during a sphenoid sinus endoscopy. A 56-year-old female was evaluated initially by otolaryngology for two year duration of persistent post-nasal drip, retro-orbital pressure and frontal headaches despite trials of antibiotics and allergy medications. A CT of the sinuses showed soft tissue opacification of the midline sphenoid sinus with erosion of the sellar floor. Nasopharyngeal endoscopic evaluation showed copious purulent material and granulation tissue from the floor of the sphenoid sinus which was drained and biopsied. Surgical pathology was consistent with pituitary adenoma. Immunohistochemical staining showed strong reactivity in the cells with chromogranin A, CD56, INSM1, and synaptophysin and scattered positivity with AE1/AE3 and FSH. E-cadherin staining was retained and p53 negative. ACTH, CD31, CD68, GH, LH, prolactin, and TSH were non-reactive. Biochemical evaluation demonstrated that the lesion was hormonally non-functioning. An MRI of the sella subsequently showed a pituitary macroadenoma measured 1.7 x 0.7 x 1.4 cm extending into the right cavernous sinus and inferiorly into the right sphenoid sinus and wrapping around the right internal carotid artery without compressing it. The patient was initially thought to have Ectopic Sphenoid Sinus Pituitary Adenoma (ESSPA) which is rare and accounts for only 2% of all pituitary adenomas. By strict definition, ESSPA does not often have direct anatomic connection with the pituitary and imaging studies usually show a normal pituitary gland. In our patient, MRI shows a direct communication and extension into the sphenoid sinus potentially following the migratory embryonic path during the Rathke's pouch development. Therefore, although not truly an ESSPA, this case may still be a unique variant where there is not a complete separation of the path between the pituitary and pharynx. Management options of NFPAs include observation, surgical resection if symptomatic or compressive, medical therapy with dopamine agonists and/or somatostatin agonists, or radiation therapy. Our patient was particularly unique as the endoscopy also resulted in surgical removal of part of the adenoma from the sphenoid sinus. She will be monitored for development of compressive symptoms and growth of her macroadenoma on subsequent imaging to determine the need for further surgery. In conclusion, it is important to broaden our differential diagnoses to include intracranial pathology particularly the pituitary gland when evaluating for common symptoms and chronic diseases of the sinuses.
Presentation: 6/2/2024
5086 Approaching the Enigma: Unveiling a Pituitary Stalk Lesion with Imaging and Hormonal Patterns
Authors: Rodriguez-Morales N , Guido P 
Published: October 2024

Abstract
Disclosure: N. Rodriguez-Morales: None. P. Guido: None.
Background: Pituitary stalk lesions (PSL) pose a diagnostic dilemma for endocrinologists. Multiple studies have attempted to associate hormonal imbalances and imaging patterns to a specific etiology (1,2). However, the diagnosis remains a mystery on many occasions. We describe a case of secondary hypogonadism and central DI attributed by a PSL. Clinical Case: A 39-year-old male presented with symptoms of hypogonadism and polyuria. Initial workup was consistent with secondary hypogonadism; decreased free and total testosterone levels (1.8 pg/dL and 9 ng/dL, n&gt;35 pg/dL, n&gt;250 ng/dL), LH (0.2 mIU/mL, n&gt;1.5 mIU/mL), and FSH (&lt;0.7 mIU/mL, n&gt;1.6 mIU/mL). The remaining anterior pituitary hormones were within normal limits. The patient was also polyuric (6.5L urine output in 24hr). HgbA1c was normal. Urine Na, urine Osm demonstrated water diuresis (13 mmol/L and 54 mOsm/kg, respectively). A water deprivation test was performed. Initial urine Osm after water restriction was 119 mOsm/kg, which more than tripled to 575 mOsm/kg after administration of desmopressin, diagnostic of central DI. Pituitary MRI showed a well-circumscribed thickening of the pituitary stalk (6x6x5mm), with uniform enhancement. Evaluation for etiology to rule out germ cell tumor, lymphoma, sarcoidosis, opportunistic infection, tuberculosis, Langerhans cell histiocytosis showed a normal serum hCG, HIV, ACE, LDH, AFP. A lumbar puncture demonstrated normal cytology and was negative for AFB. Whole body bone scintigraphy and chest X-ray were normal. Pituitary deficits were treated with hormone replacement (testosterone and desmopressin), and a repeat MRI showed a stable lesion. Conclusion: Noninvasive testing is key to the evaluation of a pituitary stalk lesion. Careful consideration of inflammatory, infectious, and neoplastic etiologies along with attention to pituitary deficits is very important. Our patient most likely has a craniopharyngioma based on data from other case series (1,2). This case serves to bring additional data to the body of literature on this complicated clinical scenario. References: 1. Turcu AF, Erickson BJ, Lin E, et al. Pituitary stalk lesions: The mayo clinic experience. Journal of Clinical Endocrinology and Metabolism. 2013;98(5):1812-1818. doi:https://doi.org/10.1210/jc.2012-41712. 2. Sbardella E, Joseph R, Bahram Jafar-Mohammadi, Isidori AM, Cudlip S, Grossman A. Pituitary stalk thickening: the role of an innovative MRI imaging analysis which may assist in determining clinical management. European journal of endocrinology. 2016;175(4):255-263. doi:https://doi.org/10.1530/eje-16-0455
Presentation: 6/1/2024
8407 Baseline Clinical Factors Associated with Cessation of Growth Hormone Therapy in Patients with Severe Growth Hormone Deficiency: Real World Evidence
Authors: Ssemmondo Emmanuel , Nadarajah Nageswary , Brooks Shani , Akinyombo Remi , Adeleke Kazeem A , Deshmukh Harshal , Sathyapalan Thozhukat 
Published: October 2024

Abstract
Disclosure: E. Ssemmondo: None. N. Nadarajah: None. S. Brooks: None. R. Akinyombo JNR: None. K.A. Adeleke: None. H. Deshmukh: None. T. Sathyapalan: None.
Introduction: Growth hormone replacement is indicated in adults with severe growth hormone (GH) deficiency, adult growth hormone deficiency assessment (AGHDA) score of at least 11 and are receiving treatment for other pituitary hormone deficiencies. GH is administered as a daily subcutaneous injection. There are no data looking at the cessation of GH replacement in adult patients with severe GH deficiency and the factors that predict the likelihood of patients continuing or stopping growth hormone replacement. Methods: We audited patients on the GH register between January 2006 and January 2023 in Hull Teaching Hospital NHS foundation Trust, a UK tertiary hospital. Baseline characteristics, the cause of GH deficiency, AGHDA score at diagnosis and the reason for stopping GH were collected. Proportions were compared between patients adhering to GH replacement and those who had ceased it using the Fisher exact test. Logistic regression was employed to explore factors correlated with the cessation of GH replacement. Results: The study comprised 141 adult patients with a mean age of 52 years, of which 75 (53%) were female. Notably, 54 (38%) individuals had discontinued GH replacement therapy. Predominant reasons for discontinuation were cited as lack of therapeutic benefit (46%) and a shift in clinical indication (26%). Among patients off GH therapy, the most frequent cause of GH deficiency was idiopathic (57%), while for those on GH replacement, pituitary surgery was the leading cause (53%). Upon adjusting for covariates, gender emerged as significantly associated with the cessation of GH therapy. Females exhibited an 8.8 times higher likelihood of discontinuing GH therapy compared to males (P-value=0.02). However, no other baseline factors displayed a statistically significant correlation with the cessation of GH replacement. Conclusion: In this real-world investigation of patients with severe GH deficiency, over two in five individuals who discontinued GH therapy cited the absence of perceived benefits. Notably, gender is a predictive factor for the cessation of GH replacement, with females displaying a higher tendency to discontinue this therapy.
Presentation: 6/1/2024
12450 Beyond the Surface: A Deep Dive into Pancreatic Insulinoma
Authors: Bhandari S , Elhag R , Singh J , Rastogi N 
Published: October 2024

Abstract
Disclosure: S. Bhandari: None. R. Elhag: None. J. Singh: None. N. Rastogi: None.
Background: Pancreatic neuroendocrine tumors (NET) are rare lesions that are typically sporadic, solitary and usually &lt;2cm in diameter, with reported incidence of 4 cases per 1 million patients per year[1]. The most common hormone secreting NET are insulinomas. The hallmark of insulinomas is hypersecretion of insulin, leading to neuroglycopenic symptoms and uncontrolled sympathoadrenal activity. Clinical case: 51 years old female with no significant past medical history was referred to endocrine clinic by her primary care physician for hypoglycemia with a blood glucose level of 48 mg/dl. She reported an increased frequency of headaches and dizziness which began with intermittent fasting (10-12 hours) for past 6 months. These symptoms improved upon increasing meal frequency. Initial laboratory investigations revealed glucose of 54 mg/dl, normal HbA1c, and negative sulfonylurea panel. The patient had normal liver and kidney function with no malnutrition or malabsorption issues. Further work up showed C-peptide level 1.56 ng/ml (n 0.80-3.85ng/ml), insulin level 7.9 uIU/mL (n &lt;18.4 uIU/mL), pro-insulin level significantly elevated at 77.6 pmol/L (n &lt;/= 18.8pmol/L) and beta hydroxybutyrate of 0.12 mmol/l (n 0.02-0.27mmol/l). Insulin like growth factor was normal. Insulin antibodies were negative, and pituitary hormones were within normal limits. Pancreatic ultrasound was normal. CT abdomen/pelvis showed a 0.8x1.1 cm homogenously hypervascular anterior pancreatic body soft tissue lesion consistent with NET. Patient was started on diazoxide and continuous glucose monitoring (CGM). She was referred to general surgery and underwent successful tumor resection. Insulinoma is suggested by Whipple's triad, which is presence of hypoglycemic symptoms, documented hypoglycemia and resolution of hypoglycemic symptoms after glucose administration. As clinical manifestations are non-specific, diagnosing an insulinoma is challenging and depends on collateral history and a high index of suspicion. The gold standard of diagnosis is supervised 72-hour fasting test with plasma glucose, insulin, C-peptide, and proinsulin level measurements. Medical management of insulinoma includes the use of diazoxide, calcium channel blockers, propranolol, and glucocorticoids. Surgery is definitive treatment for insulinomas, with cure rates ranging from 77 to 100%. Conclusion: Insulinomas are benign and curable in most cases but can be fatal if misdiagnosed. Incidental findings of hypoglycemia should warrant thorough diagnostic workup to facilitate timely diagnosis and management. References:1.Service FJ, McMahon MM, O'Brien PC, Ballard DJ. Functioning insulinoma--incidence, recurrence, and long-term survival of patients: a 60-year study. Mayo Clin Proc. 1991 Jul;66(7):711-9. doi: 10.1016/s0025-6196(12)62083-7. PMID: 1677058.
Presentation: 6/1/2024
8623 Atypical VHL Genetic Variant Causing Paraganglioma
Authors: Mangu Goutami , Faria Briceno Judith Jackelyn , Kanth Yatavelli Rajini 
Published: October 2024

Abstract
Disclosure: G. Mangu: None. J.J. Faria Briceno: None. R. Yatavelli: None.
Abstract: Pheochromocytomas and paragangliomas (PPGLs) are rare chromaffin cell tumors that originate from the adrenal medulla and extra-adrenal paraganglia respectively. Previous studies have shown that incidental PPGLs are seen in older patients with mild symptoms. They have lower levels of plasma catecholamines and lower incidence of malignancy than patients with nonincidental PPGLs. We report a case of an incidental paraganglioma in a young female with atypical pathogenic variant in the VHL gene which is known to cause familial erythrocytosis but NOT VHL syndrome or PPGL. Case Presentation: A 33-year-old African American female with no significant medical history presented to the emergency room with the chief complaint of right lower quadrant pain for 2 days, which started with her menstruation. The vitals were BP 128/67, pulse 67 and physical examination was unremarkable. CT showed a 4.0 x 3.0 cm heterogenous enhancing left adrenal mass and MRI with adrenal protocol revealed 3.4 x 3.1 cm mass consistent with pheochromocytoma. Labs revealed elevated plasma nor metanephrines and 24-hour urine normetanephrines were 1020 mcg. She was asymptomatic without hypertension, palpitations, or chest pain. She underwent laparoscopic left adrenalectomy after appropriate alpha blockade. The pathology report showed left periadrenal paraganglioma with immunohistochemistry staining significant for Carbonic anhydrase IX (CAIX) membranous expression which is mostly seen in paragangliomas associated with von Hippel-Lindau syndrome. Clinically, she did not have any stigmata for hereditary PPGL syndrome. Her genetic testing revealed a pathogenic heterozygous variant in the VHL gene, Exon 3, c.598C.T (pArg200Trp), which is a missense variant expected to disrupt VHL protein function. Although she has a germline mutation in VHL, it is not the garden variant which is associated with classic VHL syndrome. It has been reported to cause autosomal recessive erythrocytosis but not PPGL. Conclusion: The pathogenic heterozygous variant in VHL gene, Exon 3, c.598C.T (pArg200Trp) is known to cause autosomal recessive familial erythrocytosis type 2 in the Chuvash population, termed as Chuvash Polycythemia. Our patient did not have polycythemia but had iron deficiency anemia from menorrhagia. Several studies have reported that this variant does not cause VHL syndrome, however it has been reported in a single family with VHL syndrome but WITHOUT pheochromocytoma. To our knowledge, incidental adrenergic paraganglioma associated with this mutation has not been reported in the literature.
Presentation: 6/3/2024
7173 Cabergoline Induced Psychosis in a Patient with no Previous History of Psychiatric Disorder
Authors: Aryal Badri , Kim Keun Young , Shafi Amtul , Ganesh Malini 
Published: October 2024

Abstract
Disclosure: B. Aryal: None. K. Kim: None. A. Shafi: None. M. Ganesh: None.
Introduction: Cabergoline is a dopamine agonist (DA) used to treat prolactinomas. It is well established that DAs may cause psychotic symptoms. However, very few cases report cabergoline-associated psychosis in patients without personal or family history of psychiatric disorders. We report a rare case of cabergoline-induced psychosis in a patient with a prolactinoma without any underlying psychiatric disorder, which was managed with the addition of olanzapine. Case: A 41 year old male with no history of psychiatric disorder was started on cabergoline 0.5mg twice a week for a newly diagnosed prolactinoma. 4 weeks later, he presented to the emergency room for aggressive behavior and confusion for the past 2 weeks. He endorsed visual and auditory hallucinations. Cabergoline was discontinued. During hospitalization, he attempted suicide and required 1:1 observation. He was started on olanzapine per the inpatient psychiatry team. Surgical resection of the prolactinoma was considered given his acute psychosis associated with cabergoline. However, complete resection of the tumor was deemed impossible given encasement of the internal carotid arteries. After discussion with the patient, he underwent re-challenge with cabergoline 0.25mg weekly while on olanzapine under 1:1 observation in the ICU. He was monitored for 2 weeks and eventually discharged home on cabergoline 0.25mg twice a week and olanzapine with improvement in prolactin levels to 4973.7 ng/mL after 4 weeks. He continued to remain free of psychotic symptoms upon follow up as an outpatient. Discussion: Psychosis is a rare side effect of DA mediated via D2/D3 receptors in the mesocortical and mesolimbic pathways. Several cases report psychosis associated with cabergoline in patients with a history of psychiatric disorders. However only one case reports de novo psychosis. Our patient developed severe psychosis while on low-dose cabergoline for 4 weeks. This rare case of de novo cabergoline-associated psychosis re-emphasizes that psychosis may occur regardless of previous history of psychiatric disorder and independent of the dose or duration of cabergoline. Treatment of a prolactinoma in the setting of cabergoline-associated psychosis requires a multidisciplinary approach. Alternative treatment of surgical resection was considered for our patient. However surgical resection was not plausible given difficult surgical anatomy. Therefore he was monitored closely to re-initiate cabergoline while on olanzapine. Several cases report successful use of clozapine, aripiprazole, and quetiapine for patients with psychiatric symptoms while on cabergoline. Patients who are on cabergoline should be closely monitored for any psychotic symptoms. Further studies are warranted to identify patients at risk of developing psychosis while on cabergoline to tailor an individualized approach to therapy and monitoring.
Presentation: 6/2/2024
8705 Autoimmune Polyglandular Syndrome Type 2 Presenting As Recurrent Cardiac Tamponade
Authors: Marta Niedzialkowska Ewelina , Shelden Daniel 
Published: October 2024

Abstract
Disclosure: E.M. Niedzialkowska: None. D. Shelden: None.
Introduction: Autoimmune polyglandular syndrome type 2 (APS2) is a rare endocrinopathy with co-occurrence of autoimmune adrenal insufficiency, autoimmune thyroiditis and/or type 1 diabetes. In rare cases, APS2 can predispose patients to recurrent pericardial effusion and tamponade. Case presentation: 32 y.o male with medical history of hypothyroidism on replacement therapy diagnosed 2 weeks prior to admission presented with progressive dyspnea and hypotension. The patient was found to have pericardial effusion with tamponade requiring pressor support. Initial lab tests showed TSH 148.7 uIU/ml (N 0.4-4.5), free t4 0.7 ng/dl(N 0.7-1.5 ), free t3 2 pg/ml (N 1.7-3.5), Hb a1c 4.7% (N &lt;5.6%), thyroglobulin antibody 851 IU/ml (N &lt;20), TPO antibody &gt;1 000 IU/ml (N&lt;=35), TSI 0.1 IU/l (&lt;0.1), sodium 127 mmol/l (N 135-145), and a negative adrenal antibody panel. The patient was started on IV levothyroxine (400 mcg daily) and stress dose steroids in the setting of shock requiring 4 pressors. Shock resolved after pericardiocentesis and the patient was weaned off pressor support. Pericardial fluid showed neutrophil predominance and was negative for an infectious process, lab tests showed negative ANA, ANCA and GBM. The day following admission lab tests showed TSH of 23.86 uIU/ml, ft4 1.3 ng/dl, the patient was transitioned to oral levothyroxine 125 mcg and the steroid regimen was tapered and discontinued. Follow up tests showed normal TSH and resolution of pericardial effusion. Four weeks after initial admission the patient was readmitted due to hypotension. Laboratory tests showed random cortisol &lt;1.0 ug/dl (N 2.9-19.4), ACTH 17 pg/ml (N 6-48), adrenal antibody titers 1:20 (N &lt; 1:10), cosyntropin stimulation test was positive for adrenal insufficiency and the patient was started on steroid regimen with symptomatic improvement. He was diagnosed with APS type 2 based on his constellation of endocrinopathies. Repeat echocardiogram was negative for pericardial effusion. Two months later, the patient presented with chest pain. Imaging was positive for recurrent pericardial effusion requiring pressor support and pericardiocentesis. The patient was subsequently started on colchicine. Infectious and rheumatologic workup continued to be negative. The patient did not exhibit symptoms of connective tissue disease. Seven months after the initial presentation the patient was readmitted with COVID-19 infection complicated by hypotension and a small pericardial effusion. Symptoms improved after initiation of stress dose steroids. Conclusion: Cardiac tamponade is a rare presentation of APS2 with 9 cases reported in the literature up to date. Increased incidence of pericardial effusion is presumed to be a result of autoimmune inflammation leading to fluid accumulation. The patients are prone to tamponade due to intravascular volume depletion, decreased vascular tone and impaired stress response.
Presentation: 6/3/2024
6372 Changes in Blood Steroid Hormone Profile after Switching from Metyrapone to Osilodrostat
Authors: Yokozeki K , Kameda H , Miya A , Nomoto H , Nakamura A , Jin S , Matoba K , Atsumi T 
Published: October 2024

Abstract
Disclosure: K. Yokozeki: None. H. Kameda: None. A. Miya: None. H. Nomoto: None. A. Nakamura: None. S. Jin: None. K. Matoba: None. T. Atsumi: None.
Background: The new steroidogenesis inhibitor osilodrostat has recently been approved for use in Cushing's syndrome. However, there are limited studies on changes in blood steroid hormone profiles after switching from existing drugs including metyrapone. Purpose: To study the changes in steroid hormone profiles with switching from metyrapone to osilodrostat in patients with Cushing's disease and to examine the differences in clinical efficacy. Case 1: A woman in her 40s underwent transsphenoidal pituitary tumor surgery (TSS) for Cushing's disease in X-12, but was not in remission and was treated with 1000 mg/day of metyrapone and oral hydrocortisone. In X-3, the patient complained of masculinization and was started pasireotide LAR 10 mg per month, which was subsequently increased to 30 mg. Despite the addition of 240 mg/day of trilostane in X-2, the patient did not show improvement. Switched the steroidogenesis inhibitors to osilodrostat 4 mg/day in year X, blood cortisol and testosterone levels decreased and the symptoms of virilization disappeared.Case 2: A woman in her 40s experienced edema in her face and limbs, increased appetite and weight gain since Y-13. After endocrinological examination, she was diagnosed with Cushing's disease. TSS was performed and she was in remission. However, she suffered a relapse in Y-4 and was started on metyrapone, which was titrated up to 4,000 mg/day. Due to gastric discomfort, metyrapone was switched to osilodrostat 52 mg/day in year Y, leading to an improvement of her gastric symptoms and stabilized blood cortisol level. Case 3: A woman in her 70s underwent TSS for Cushing's disease in Z-6, but the tumor remained and she was prescribed metyrapone 1,500 mg/day. The disease was stable and complications were under control with metyrapone. In Z-1, the patient developed elevated blood pressure and worsening leg edema, and metyrapone was switched to osilodrostat 3 mg/day in year Z, resulting decreased blood cortisol level and blood pressure. Results: Liquid chromatograph mass spectrometry (LC-MS) analysis of blood steroid hormone profiles in above three cases demonstrated a decrease in 17-OH pregnenolone, 17-OH progesterone, and 11-deoxycorticosterone after switching the steroidogenesis inhibitors. Discussion and Conclusion: It has been noted that osilodrostat lowers serum cortisol in a shorter period of time compared to metyrapone and may also decrease the number of antihypertensive medications used. Under metyrapone administration, hypertrichosis, hypertension, and hypokalemia are often observed with increased mineralocorticoid precursors, but osilodrostat may have a different clinical effect as a result of its different pattern of steroid hormone synthase inhibition.
Presentation: 6/2/2024