bluuebunny/crossref_metadata_2025_split huggingface dataset:
PSAT014 Pheochromocytoma in a Pregnant Woman with VHL leading to First Trimester Fetal Demise
Authors: Gorbonos Allen , Kamat Arnav , Williams Belinda , Rodriguez Giovanna , Bahtiyar Gul 
Published: November 2022

Abstract

Introduction
Pheochromocytomas (PCCs) are rare neuroendocrine tumors that secrete catecholamines. They may be associated with familial syndromes such as Multiple Endocrine Neoplasia type 2 (MEN 2), von Hippel-Lindau disease (VHL), and Neurofibromatosis type 1 (NF 1). PCCs are a common cause of malignant hypertension in pregnancy and can lead to adverse maternal and fetal outcomes if left undiagnosed or untreated.

Case Description
A 39-year-old Latin American primigravid woman at 8 weeks 4 days gestation was referred to the endocrinology clinic for labile blood pressure (160/90 mmHg at recent ER visit) and a lab finding of elevated catecholamines (plasma norepinephrine 4720 pg/ml; normal 0-874 pg/ml). She reported chronic headaches and 2-lb unintentional weight loss during pregnancy. Past medical history was significant for right adrenal PCC diagnosed at age 13 (currently status post adrenalectomy), and a cerebrovascular accident at age 29. Family history was relevant for PCC in the patient's sister and mother. The patient's home medications were nifedipine 30 mg daily and prenatal vitamins. On physical exam, her blood pressure was 126/76 mm Hg, heart rate was 67/min and a scar of previous right adrenalectomy was noted. Doxazosin 1 mg daily was added to her regimen and nifedipine was discontinued. The patient was initially planned for an elective cesarean section at term. However, at 10 weeks 5 days of gestation, she had a missed abortion. Further genetic testing of syndromic PCC revealed a heterozygous mutation in the VHL gene. Abdominal MRI showed a left adrenal mass (3.6×2.6×3.6 cm3) and retroperitoneal lymphadenopathy. The patient underwent left adrenalectomy and is currently hemodynamically stable on maintenance hydrocortisone and fludrocortisone.

Discussion
We report a case of PCC complicating pregnancy in a 39-year-old primigravida who had a family history of PCC. In females of reproductive age with a known PCC diagnosis, we suggest early genetic testing as it can further advise family planning, antepartum monitoring, and management. Medically, these patients can be managed with α-adrenergic blockers and calcium-channel blockers, followed by β-blockers. This can improve maternal and fetal outcomes primarily by minimizing paroxysmal elevations in catecholamines. Definitive treatment of PCC is surgical excision, usually performed during the second trimester or postpartum. Management of patients with VHL requires lifelong clinical, laboratory, and imaging surveillance for other manifestations of the disease.

References
Bancos, Irina et al. Maternal and fetal outcomes in phaeochromocytoma and pregnancy: a multicentre retrospective cohort study and systematic review of literature. Lancet Diabetes Endocrinol 2021; 9: 13–21
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
PSAT023 Not Every Pain Is a Gain! A Rare Case of Adrenal Leiomyosarcoma.
Authors: Syeda Javeria Nasir , Zafar Rafia , Rajamani Krishnakumar , Azim Salman 
Published: November 2022

Abstract

Introduction
Adrenal leiomyosarcoma (AL) is a rare malignant tumor, representing only 0.1% to 0.2% of all retroperitoneal soft tissue sarcomas in adults (1). A young male's acute abdominal and back pain led to an unusual diagnosis of AL.

Case Presentation
A 38-year-old male patient with no past medical history presented with a history of right sided abdominal pain of several months duration radiating to the back and significant weight loss. His vital signs were stable; however, he appeared mildly distressed and had tenderness on deep palpation in the right mid-upper quadrant. An abdominal sonogram showed a hypoechoic mass between the liver and the right kidney with no evidence of acute cholecystitis. A CT scan of the abdomen with IV contrast showed a lobulated mass invading the right adrenal gland, measuring 5.4×4.3×5.1 cm, with a post-contrast density measurement of 30 Hounsfield units. Laboratory tests showed plasma renin of 1.8 (upper limit of normal ULN 4.3 ng/ml/h), aldosterone of 8.6 (ULN 21 ng/dl), plasma metanephrine of &lt;0.2 (ULN 0.50 nmol/l), and plasma normetanephrine of 0.49 (ULN 0.90 nmol/l). Additionally, his cortisol level after dexamethasone suppression was 0.9 (ULN 22.4 ug/dl). He underwent a right-sided laparoscopic adrenalectomy. The histopathological testing returned as a high-grade undifferentiated malignant neoplasm consistent with leiomyosarcoma. The IHC stains showed positive staining for SMA, CD10, and GATA3. He underwent whole-body PET/CT that showed multiple hypermetabolic abnormalities, including the right adrenalectomy bed, with a possible tumor invading the right upper renal pole. Systemic chemotherapy with doxorubicin and dacarbazine was initiated. Foundation panel testing showed NF1 loss on exons 2-3, CDKN2A/B CDKN2A rearrangement on exon 2, and TP53 loss on exons 1-4. He has received two rounds of chemotherapy, with no evidence of disease progression.

Discussion
Adrenal leiomyosarcoma usually originates from the smooth muscle cells of the adrenal or adjacent vascular structures. The tumor is asymptomatic until it enlarges and compresses the surrounding structures. Currently, there are about 50 reported valid cases (2) with no reports of NF-1 exon loss to our knowledge. The primary treatment is radical surgery with or without adjuvant chemotherapy and radiotherapy. Foundation panel testing showing NF-1 and TP53 exon loss may guide future targeted therapy.

References
1-Fatema Jabarkhel, Henri Puttonen, Lina Hansson, Andreas Muth, Oskar Ragnarsson, Primary Adrenal Leiomyosarcoma: Clinical, Radiological, and Histopathological Characteristics, Journal of the Endocrine Society, Volume 4, Issue 6, June 2020. 2-Bahador Oshidari, Amir Zamani, Hooman Bahrami-Motlagh, Elena Jamali, Setareh Mahmoodi, Manoochehr Ebrahimian, Primary leiomyosarcoma of the adrenal; a case report, International Journal of Surgery Case Reports, Volume 90, 2022, 106707.
Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.
OR20-4 Expression of the Neuropeptide Substance P and the NK1 Receptor in Aldosterone-Producing Adenomas
Authors: Amar Laurence , Cornu Erika Cornu , Defortescu Guillaume , Duparc Céline , Fernandes-Rosa Fabio L , Lefebvre Hervé , Louiset Estelle , Manceau Gilles , Meatchi Tchao , Renouf Sylvie , Sabourin Jean-Christophe , Zennaro Maria-Christina , Lopez Antoine-Guy 
Published: November 2022

Abstract

Background
Aldosterone-producing adenoma (APA) is a major cause of primary aldosteronism (PA) which is the most frequent form of secondary hypertension (1-2). The pathophysiology of PA is quite complex and still incompletely understood. Substance P (SP) encoded by the TAC1 gene belongs to a family of bioactive peptides named tachykinins. A recently published study indicated that SP, released by subcapsular nerve fibres, stimulates aldosterone production through activation of the neurokinin type 1 receptor (NK1R) in the human adrenal gland (3). The aim of our work was to investigate the presence of SP fibres and the NK1 receptor in a large series of APA in order to assess the potential role of this peptide in the pathophysiology of PA.

Methods
APA tissues were studied by molecular and histological approaches. Expression of SP and NK1 receptor was searched for in a series of 51 APA by RT-Q-PCR and immunohistochemistry.

Results
Quantitative RT-PCR data indicated that adenomas strongly express TAC1 mRNA. Immunohistochemistry showed the presence of SP-positive nerve fibres in APAs tissues. SP was also detected in a subpopulation of adenomatous cells. Adenomas strongly express mRNA encoding the NK1 receptor. The distribution of the NK1 receptor within APAs is similar to that of aldosterone synthase (CYP11B2), suggesting that SP may regulate aldosterone secretion by APAs.

Conclusion
These results suggest that SP and its NK1 receptor may be involved in the pathophysiology of aldosterone hypersecretion by APAs. References: 1. Monticone S, Burrello J, Tizzani D, Bertello C, Viola A, Buffolo F, et al. Prevalence and Clinical Manifestations of Primary Aldosteronism Encountered in Primary Care Practice. J Am Coll Cardiol. 2017;69(14): 1811-20. 2. Buffolo F, Monticone S, Tetti M, Mulatero P. Primary aldosteronism in the primary care setting. Curr Opin Endocrinol Diabetes Obes. 2018;25(3): 155-9. 3. Wils J, Duparc C, Cailleux A-F, Lopez A-G, Guiheneuf C, Boutelet I, et al. The neuropeptide substance P regulates aldosterone secretion in human adrenals. Nat Commun. 2020;11(1): 2673.
Presentation: Monday, June 13, 2022 11:45 a.m. - 12:00 p.m.
LBODP034 Metformin Associated Lactic Acidosis, Rare But Real
Authors: Khalifa Maram , Kantorovitch Vitaly 
Published: November 2022

Abstract

Background
Metformin has been widely used as a first-line agent to treat type 2 diabetes mellitus. Although metformin has become a drug of choice for the treatment of type 2 diabetes mellitus, some patients may not receive it owing to the risk of lactic acidosis. Metformin increases plasma lactate levels in a plasma concentration-dependent manner by inhibiting mitochondrial respiration predominantly in the liver. Elevated plasma metformin concentrations (as occur in individuals with renal impairment) and a secondary event or condition that further disrupts lactate production or clearance (e. g., cirrhosis, sepsis, or hypoperfusion), are typically necessary to cause metformin-associated lactic acidosis (MALA).

Case description
We present a case of a severe metformin-induced lactic acidosis in a patient with type 2 DM admitted to the emergency department with a history of dehydration due to diarrhea and complicated by acute renal failure Our patient is a 57-year-old female with a medical history of DM on metformin 1000 mg twice daily, hypertension, hyperlipidemia, and hypothyroidism who presented to the hospital with a concern of altered mental status. Upon presentation, the patient could not provide much history, but her daughter confirmed that she was in her normal state of health until 2 weeks ago when she started complaining of knee pain and stated that she was taking ibuprofen 600 mg every 8 hours for pain with good response. Later, 2 days prior to her presentation she started having severe nausea, vomiting, weakness and was noted to be confused so she was brought to the emergency department. Upon arrival the patient's blood pressure was noted to be 104/50, GCS 15, rest of the vitals were within normal. Potassium was 5.5(3.4 - 5.3 mmol/L), bicarbonate 5(22 - 33 mmol/L), creatinine 10.2(0.4 - 1.1 mg/dL) compared to normal creatinine 6 months ago, GFR&lt;5(&gt;59 ml/min/1.73 sq meters, anion gap 41(4-16), PH 6.7(7.33 - 7.43), After resuscitation, her severe acidemia persisted despite aggressive intervention with volume resuscitation and vasopressors, leading to the initiation of renal replacement therapy. After multiple dialysis treatments, her severe acidemia resolved and creatinine improved back to baseline after which she was discharged home in stable condition.

Conclusion
The reported incidence of lactic acidosis in clinical practice has proved to be very low (&lt;10 cases per 100,000 patient-years). This literature-based review provides an update on the impact of renal function and other conditions (cirrhosis, sepsis, or hypoperfusion) on metformin plasma levels and the risk of MALA in patients with type 2 diabetes. As these secondary events may be unpredictable and the mortality rate for MALA approaches 50%, metformin has been contraindicated in moderate and severe renal impairment to minimize the potential for toxic metformin levels and MALA.
Presentation: No date and time listed
PSUN248 Mitochondrial diabetes - a rare but important cause of diabetes
Authors: Botros Mina , Ohri Anupam 
Published: November 2022

Abstract

Background
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder which presents with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mitochondrial diabetes is the cause in 1% of all diabetic patients. Here we present a case of a patient with insulin dependent diabetes mellitus (DM) who experienced sensorineural deafness and was diagnosed with MELAS.

Case
33-year-old female presented with stroke like symptoms in December 2018. Medical history was significant for Diabetes Mellitus (DM), bilateral deafness and end stage renal disease requiring peritoneal dialysis with subsequent kidney transplant. On presentation, she had left sided weakness, lab work revealed lactic acidosis. MRI brain showed large areas of restricted diffusion in right hemisphere and cerebral edema. CSF analysis was positive for lactate and pyruvate. Left lower extremity muscle biopsy and mitochondrial genome analysis were positive for m.3243A&gt;G in the MT-TL1 with 80% heteroplasmy, confirming the diagnosis of MELAS. Patient was started on Arginine, CoQ10, Levetiracetam, phenytoin, IVIG and her symptoms improved. DM was diagnosed in 2013 when patient was on peritoneal dialysis. Family history significant for type 2 DM in maternal uncle.

Discussion
Mitochondrial diseases are rare, maternally inherited, heterogeneous conditions caused by mutations in mitochondrial DNA and present with a variety of clinical symptoms. Mitochondrial diabetes results from the 3243 A&gt;G gene mutation, responsible for both MELAS and Mitochondrial inherited diabetes and deafness (MIDD). MELAS presents with encephalopathy, stroke like symptoms and lactic acidosis (1). MIDD presents with nerve deafness, which usually occurs at an early age (2). In our patient, she presented with neurological symptoms suggesting MELAS and bilateral deafness suggesting MIDD. Her presentation is unusual and constitutes an overlap between both disorders.

Conclusion
Early recognition and diagnosis of mitochondrial diabetes is important. The diagnosis has important genetic implications for other family members. This case report highlights the presentation of MELAS and MIDD and importance of genetic studies in the confirmation of diagnosis
1) D. M. Sproule and P. Kaufmann, "Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome," Annals of the New York Academy of Sciences, vol. 1142, pp. 133–158, 20082) Murphy R, Turnbull DM, Walker M, Hattersley AT. Clinical features, diagnosis and management of maternally inherited diabetes and deafness (MIDD) associated with the 3243A&gt;G mitochondrial point mutation. Diabetic Medicine 2008. Apr;25(4): 383-99. doi: 10.1111/j.1464-5491.2008.02359.x.Epub 2008 Feb 18. PMID: 18294221.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
PSUN249 Starvation Ketoacidosis as the Presenting Finding of Glycogen Storage Disorder Type III
Authors: Fiacco Nicholas , Caraccio Donald 
Published: November 2022

Abstract

A 30-year woman with a history of heart transplantation and a history of post-transplant diabetes mellitus presents with severe euglycemic ketoacidosis. Initial concern was for diabetes related ketoacidosis given history of diabetes however blood glucose was within goal range in the absence of pregnancy and use of sodium glucose transporter type 2 inhibitor use. Initial laboratory evaluation showed a serum glucose of 177 mg/dL, a serum beta hydroxybutyrate of greater than 12.66 mmol/L, serum lactate of 0.6 mmol/L, with a calculated anion gap of greater than 30 mmol/L. C-peptide levels were repeatedly normal and appropriate for blood glucose level ranging between 2.8 ng/mL and 7.5 ng/mL ruling out insulin deficiency as causative. It was discovered that the patient had intentionally fasted for greater than 18 hours and thus had not used the premixed insulin regimen prescribed. Metabolic disturbance corrected with a dextrose and insulin infusion. Evaluation for inborn error of metabolism showed: acylcarnitine panel returned normal making an inborn error of fatty acid metabolism unlikely. The mitochondrial DNA mutation panel was negative for point mutations or deletions. Further testing for urinary organic acids did not reveal elevation of 3-hydroxybutyric acid suggesting SCOT enzyme levels were sufficient in our patient. Review of pathology records for heart transplantation completed for idiopathic cardiomyopathy 20 years prior to this presentation showed high levels of glycogen deposition prompting evaluation for glycogen storage disorders. Results revealed a heterozygous abnormality at exon 9 of the AGL gene; AGL gene c.1139A&gt;G (p.Glu380Gly). This is not a reported pathologic mutation, and given the heterozygosity of the mutation in this autosomal recessive condition, it is felt that either environmental factors or the presence of other unrecognized genetic mutations allowed for the phenotypic expression of GSDIII with euglycemic starvation ketoacidosis. The patient was treated with dietary counseling regarding ketone suppression with basal insulin during periods of fasting and preference to avoid periods of prolonged fasting with frequent carbohydrate-containing meals.

Conclusion
This case represents a novel, potentially pathologic defect in the AGL gene. This finding should prompt further investigations into genetic variabilities that may lead to this phenotypic expression.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
PSUN253 Cocaine Use Resulting in Inadvertent Sulfonylurea Overdose
Authors: Gothong Chikara , Whitlatch Hilary B 
Published: November 2022

Abstract

Introduction
Most street cocaine is cut with other substances to increase drug volume. Often, cutting agents are used that change or intensify the effects of the drug. We present a case in which sulfonylurea-laced cocaine resulted in life-threatening hypoglycemia.

Clinical Case
A 61-year-old male with a history of heart failure with reduced ejection fraction, moderate aortic stenosis, and substance abuse was found unconscious with a fingerstick of 25 mg/dL. He had no personal history of diabetes. No one in his household had diabetes, and he denied any use of insulin or oral anti-diabetic medications. In the emergency department, he had recurrent hypoglycemia despite D10 boluses, glucagon, oral glucose tablets, and a full meal. He required initiation of a continuous intravenous D10 drip, which was titrated to 250 mL/hr to maintain normoglycemia. The endocrinology service was consulted for further evaluation and treatment. The patient recalled smoking a new supply of cocaine prior to his current admission. He had been admitted to two other hospitals within the month prior with similar episodes of severe hypoglycemia. Biochemical evaluation during a prior hospitalization suggested hyperinsulinemic hypoglycemia and a CT abdomen did not visualize an insulinoma. However, diagnostic evaluation was not completed at that time as the patient left against medical advice.Tests during this hospitalization included a low serum glucose 42 mg/dL, high insulin 107 uIU/mL (normal &lt;3), high proinsulin 42.8 pmol/L (normal &lt;5 pmol/L), high c peptide 13 ng/mL (normal &lt;0.6) and low beta-hydroxybutyrate 1.2 mg/dL (normal &gt;2.7mg/dL), consistent with hyperinsulinemic hypoglycemia. Other results included negative insulin antibody, normal TSH, and appropriately elevated cortisol levels. Given desire to rapidly wean D10 drip to avoid volume overload, octreotide therapy was initiated. He received octreotide 50mcg subcutaneously three times over a span of 24 hours, and the D10 drip was discontinued. His sulfonylurea screen subsequently resulted positive for glipizide. Considering the timing of cocaine use preceding the onset of hypoglycemia, it was postulated that the hyperinsulinemic hypoglycemic event was due to use of cocaine that was intermixed with sulfonylurea.

Conclusion
In cases of hypoglycemia with a known history of illicit substance abuse, clinicians should consider the presence of contributing cutting agents, such as sulfonylureas.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.
PSUN257 Acute Onset Diabetes and GAD Antibody Positivity After COVID-19
Authors: Wilson Jessica 
Published: November 2022

Abstract

Background
Viral infections can trigger the development of auto-antibodies including against the pancreas (1). The Sars-CoV2 virus can infect the pancreas (2). Limited data exist linking COVID-19 infection and the development of islet related auto-antibodies and diabetes in adults.

Case
A 46-year-old healthy man (BMI 24.7kg/m2) developed upper respiratory symptoms in mid-July 2021. He did not have a family or personal history of autoimmune diseases. His mother has mild type 2 diabetes mellitus. He underwent Sars-CoV-2 testing in July which was positive. In August, upper respiratory symptoms resolved, however, he developed acute onset polyuria, polydipsia, fatigue, and weight loss. He lost 12.7kg within one month. On his own, he noticed that he felt worse after eating carbohydrates and modified his eating (limiting to 20g of carbohydrates per meal), which reduced his polyuria, polydipsia, and weight loss. In September, he presented to his primary care physician who diagnosed him with hyperglycemia and diabetes. Fasting blood glucose was 331mg/dL (18.4mmol/L) and hemoglobin A1C was 11.3%. He presented to endocrinology clinic in October for evaluation and was started on insulin therapy for diabetes. Laboratory studies included: glucose 194mg/dL (10.8mmol/L), repeat hemoglobin A1C 10.1%. Autoantibody testing was positive for GAD65 (glutamic acid decarboxylase 65 antibody 34.4nmol/L, reference &lt;0.02nmol/L). Other type 1 diabetes related autoantibodies were negative. Blood glucose normalized on insulin therapy (average 115mg/dL (6.4mmol/L) on continuous glucose monitor).
Op de Beeck, Anne and Decio L. Eizirik, Nature Reviews, May 2016.Muller, J, et al. Nature Metabolism, Feb 2021.
Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.