bluuebunny/crossref_metadata_2025_split huggingface dataset:
MON-922 Multiple Endocrine Neoplasia Type 1- A Clarion Call for Clarity
Authors: Hashmi Hiba , Fish Lisa 
Published: May 2020

Abstract
A 35-year-old gentleman presented with epigastric pain and bilious emesis. He also endorsed urinary frequency, non-bloody diarrhea and diffuse bone pain. On physical examination he had epigastric tenderness and multiple hyperpigmented skin lesions.
An abdominal computed tomography (CT) scan revealed multiple diverticula with peri-colonic fat stranding in the descending and sigmoid colon, concerning for diverticulitis. He was started on a course of metronidazole and ciprofloxacin. A 3.1 cm mass was incidentally noted in the uncinate process of the pancreas. Bilateral adrenal nodules were also appreciated.
An endoscopic ultrasound (EUS) guided trans-gastric fine needle aspiration biopsy was performed, revealing a well differentiated pancreatic neuroendocrine tumor (pNET - pT3N1Mx, intermediate risk). Chromogranin A was elevated to 108 ng/ml (reference range &lt;93 ng/ml). Serum and urine metanephrine, V-peptide, gastrin, glucagon and parathyroid hormone related peptide were all normal; indicating a nonfunctioning neuroendocrine tumor. He underwent a pancreaticoduodenectomy. Octreotide scan was unrevealing for residual uptake. Adrenal biopsy revealed adrenal adenomas.
Three years later, he presented with severe abdominal pain and a new pancreatic mass was noted on CT. Chromogranin A was elevated to 227 ng/mL. EUS revealed a 0.35 cm mass in the bed of the pancreatic head, encasing the superior mesenteric artery. Pathology was positive for recurrence of the neuroendocrine tumor.
He was hypercalcemic to 11.4 mg/dL and parathyroid hormone was elevated to 319 pg/mL. CT neck revealed a 0.1 cm nodule concerning for parathyroid adenoma. He underwent a subtotal parathyroidectomy.
Genetic testing confirmed Multiple Endocrine Neoplasia Type 1 (MEN1) with a heterozygous mutation of the menin1 gene.
MEN1 is a rare genetic syndrome with affected individuals at increased risk of developing pancreatic, pituitary, parathyroid gland and cutaneous tumors. With a kaleidoscope of presentations, clinicians must maintain a high index of suspicion for MEN1, particularly for cases with nonfunctioning pNETs which present insidiously and are the foremost cause of mortality in MEN1 patients.1
Further clarity is needed on MEN1 associated pNET prognostic risk stratification, surveillance and targeted immunochemotherapy.2 Timely and algorithmic screening for MEN 1 syndrome in patients with pancreatic incidentalomas is essential to improving patient outcomes.
1.
Kamilaris CDC, Stratakis CA. Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis. Front Endocrinol. 2019;10:339. doi:10.3389/fendo.2019.00339
2.
Yates CJ, Newey PJ, Thakker RV. Challenges and controversies in management of pancreatic neuroendocrine tumours in patients with MEN1. Lancet Diabetes Endocrinol. 2015;3(11):895-905. doi:10.1016/S2213-8587(15)00043-1
MON-287 Expression of Programmed Death-Ligand 1 (PD-L1) in Human Pituitary Neuroendocrine Tumor
Authors: Suteau Valentine , Collin Alexandre , Menei Philippe , Rodien Patrice , Rousselet Marie-Christine , Briet Claire 
Published: May 2020

Abstract
Introduction
Some Pituitary NeuroEndocrine Tumors (PitNET) present an aggressive evolution and are resistant to standard management. Immunotherapy have shown durable efficacy in a variety of malignancies. The aim of this study was to explore the programmed death-ligand 1 (PD-L1) expression in varied subtypes of pituitary adenomas with assessment of their clinical behavior at diagnosis and follow-up.
Methods
We conducted a retrospective monocentric study, including all patients operated a PitNET between 2012 and 2018. PDL-1 immunostaining were performed using an European Conformity-In-Vitro-Diagnostic labeled anti-PDL1 antibody (Clone 22C3). PD-L1 immunostaining was evaluated as the percentage of tumor cell showing positive membrane staining, into four grades: grade 0 = &lt;1%, grade 1 = 1 to 5%, grade 2 = 6 to 49% and grade 3 = ≥ 50%. PD-L1 expression was compared with tumor features (secretion, proliferation, invasion) and outcome.
Results
The study included one hundred and thirty-nine PitNET, including 84 (60%) nonfunctioning adenomas. Twenty-five PitNET were PD-L1 positive (18%), including 3 grade 3, 8 grade 2 and 14 grade 1. PD-L1 expression was not different between functioning and non-functioning adenomas (p=0.26). Among sixteen tumors with proliferative markers (Ki-67 ≥ 3% and p53 positive), only one was PD-L1 positive.
Conclusion
In our series, pituitary tumors rarely exhibit PD-L1 expression and this immune marker did not seem to be associated with any biological characteristic or behavior of the pituitary tumors. Thus, PD-L1 staining is necessary before considering PD-L1 blockage in PitNET, in case of therapeutic impasse.
SUN-292 Life-Threatening Hypernatremia in Partial Diabetes Insipidus with Adipsia Due to Cranial Radiation: Diagnostic and Therapeutic Challenges
Authors: Laghi Franco , Sarkar Sauradeep , Singh Amteshwar , Kaur Arshpreet 
Published: May 2020

Abstract
Background: Anterior pituitary dysfunction is a known, time and dose dependent effect of cranial radiotherapy but central diabetes insipidus (CDI) has been rarely reported. We present a patient with partial CDI (PCDI) and adipsia, months after subtotal resection and radiation therapy for a large anterior cranial fossa meningioma.
Clinical Case: A 53-year-old woman with history of subtotal resection of a 7 cm meningioma ~2 years ago and radiation therapy (54 Gy, completed 15 months ago), was admitted to the ICU with obtundation, tachycardia (120/min), hypotension (87/52 mmHg, on vasopressors in the first 24 hours), severe hypernatremia (serum Na 170 mmol/L), and acute kidney injury (creatinine 2.11 mg/dL; baseline 1.0 mg/dL). Plasma osmolality (pOSM) was 385 mOsm/kg and urine osmolality (uOSM) was 982 mOsm/kg. MRI brain 3 months ago showed frontal lobe encephalomalacia, residual meningioma at the planum sphenoidale (1.8x3.5x2.8 cm) with cavitary lesion compatible with post-radiation necrosis. After receiving 4 litres (L) isotonic fluids and 5 L hypotonic fluids in the first 38 hours, serum Na was 168 mmol/L, creatinine 1.35 mg/dl and uOSM 386 mOsm/kg. Urine output was 2.6 L on day-1 and 1.9 L during first 7 hours on day-2. After an IV dose of 2 mcg DDAVP, uOSM increased to 784 mOsm/kg, and Na decreased to 164 mmol/L, supporting CDI diagnosis. ACTH stimulation test was normal. Levothyroxine 50 mcg daily was started for central hypothyroidism. By day-6, her mental status returned to baseline (alert only to person). DDAVP dose adjustment was challenging due to frequent fluctuation in her serum Na (130s to 150s), adipsia and urinary incontinence. On day-44, she was discharged on subcutaneous (subQ) DDAVP 0.25 mcg every 36 hours, with a serum Na of 145 mmol/L. She was readmitted 3 days later with serum Na of 164 mmol/L, followed by another prolonged hospitalization complicated by acute kidney injury and popliteal DVT. On day-64, she was discharged to a nursing facility on DDAVP 0.25 mcg subQ twice daily.
Clinical Lesson: Delayed PCDI with adipsia is an exceedingly rare but challenging complication of cranial radiation therapy. The initial uOSM (twice as high as pOSM) in our case caused a delay in diagnosis. This could reflect enhanced antidiuretic response to low circulating ADH levels, possibly due to lower rate of solute extraction in dehydration, upregulation of ADH receptors due to chronic hormone deficiency, and to a fall in glomerular filtration rate. Decrease in uOSM after hydration could be due to ADH exhaustion.
MON-906 MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A: Familiar Case Report
Authors: Sousa Barbara K P , Calasans Camila R , Scardua Deborah F , Azevedo Potira A G , Ricardo Gustavo P , Pires Andre D A , Maciel Mirele P , Santos Lucas R , Oliveira Marco A C , Biscolla Rosa P M , Scalco Renata C , Bueno Cristina B F , Scalissi Nilza M , Lima Jose Viana 
Published: May 2020

Abstract
Introduction: Multiple endocrine neoplasia type 2A (MEN 2A) is a autosomal dominant transmission inherited syndrome which oncogenesis is based on germline mutations with RET proto-oncogene function gain. Patients have medullary thyroid carcinoma (CMT) and some develop unilateral or bilateral pheochromocytoma and/or primary hyperparathyroidism, its frequency depends on the inherited RET mutation. We present a case of a mother and daughter with marfanoid habitus and MEN 2A syndrome confirmed by genetic analysis that identified mutation in the RET gene, codon 634.Clinical cases: 35-year-old woman with weight loss, sweating, nausea, hypertensive peaks, syncope episodes and marfanoid habitus, with plasma metanephrines 9.1nmol/L (RV&lt;0.5), bilateral adrenal tumors on MRI (4.7x4.5x3.3 cm left adrenal and 7.4x7.3x6.3 cm) and MIBG scintigraphy high uptake bilateral, with diagnosis of bilateral pheochromocytoma. She also had calcitonin 49.40pg/mL (RV&lt;6.4), calcium 11.9mg/dL (RV 8.6-10.2), PTH 372.7pg/mL (RV15-65) and cervical ultrasound (USG) with solid and hypoechogenic thyroid nodule, diagnosed with CMT and primary hyperparathyroidism with 6 possible parathyroid glands by SPECT CT scintigraphy. Genetic panel by NGS identify germline mutation in RET códon 634 - minsense mutation: c.1900T&gt;C. The patient denied prior family history. In the familiar screening, her 18-year-old daughter has a marfanoid habitus, serum calcitonin 48.8pg /mL (RV&lt;9.8), CEA 3.8ng/mL(RV&lt;3.0), cervical USG shows a thyroid nodule of 0.7x0.5x0.5cm, solid, hypoechoic, with microcalcifications and a central compartiment lymph node, whose puncture calcitonin &gt; 2000pg/mL and 118pg/mL, respectively. She features plasma metanephrines 0.5mmol/L (RV&lt;0.5), normal plasma normetanephrines, MIBG scintigraphy and adrenal MRI without alterations and absence of primary hyperparathyroidism. She has the same mutation as her mother.Conclusion: Although rare, it is essential to know the clinical and laboratory changes in MEN 2A in order to enable early diagnosis and treatment. Also, investigate every first-degree relative is important so complications and mortality of this syndrome can be reduced.
MON-393 Evaluation of Bone Mass in Transgender Women After Gender Affirming Surgery - a Pilot Study
Authors: Fighera Tayane Muniz , da Silva Eliane Dias , Borba Gustavo da Silva , Spritzer Poli Mara 
Published: May 2020

Abstract
Estrogen deficiency is classically associated with bone loss in both men and women. In transgender women, after being submitted to gender-affirming surgery (GAS), the main goal of hormone therapy (HT) is to maintain the female phenotype and prevent the consequences of the orchiectomy-related hypogonadal state. The aim of this study was to evaluate the impact of GAS on bone mass in transgender women. A total of 142 trans women attending the outpatient Gender Identity Program were sequentially enrolled. Patients aged &lt; 20 and &gt; 60 years (n=15), with gluteal silicone prosthesis (n=26) and without FSH dosage after surgery (n=9) were excluded. Anthropometric evaluation, laboratory tests and dual-energy X-ray absorptiometry (DXA) were performed in all patients during the follow-up. In women undergoing CAS (CAS-Y), DXA was performed at least 12 months after surgery and with estrogen therapy. In the other women (CAS-N), tests were performed after at least 3 months of standardized treatment (estradiol plus spironolactone or cyproterone acetate). Patients with testosterone values still above the reference for women were not excluded as long as they were on regular HT. Ninety two trans women were included. Among them, 30 had performed CAS, and had DXA assessment performed 37 months (21-78) after surgery. The mean age and BMI were 37 years (33 - 46) and 24.9 kg/m² (23.1 - 27.5) in patients CAS - Y and 30 years (24 - 36) and 24.3 kg/m² (21.5 - 28.5) in patients CAS - N. Trans women CAS-Y were significantly older (p=0.000). No difference was observed regarding estradiol levels between the groups [105.7pmol/L (48.4-207.8) and 147.5 pmol/L (71.9-284.5), p=0.622]. Free androgen index (FAI) was significantly higher [0.45 (0.17 - 1.63) and 4.47 (0.70 - 36.4), p=0.002] and FSH significantly lower [60.4mIU/ml (37.9 - 75.6) and 2.6mIU/ml (0.6 - 4.4), p=0.000] in trans women CAS - N. BMD (g/cm²) and Z-score of lumbar spine, femoral neck and total femur did not differ significantly between the groups. Considering all participants, the lumbar spine BMD was negatively correlated with FSH levels (r=-0.343, p=0.005), which remained significant even after adjustments for FAI. When only CAS - Y trans women were considered, a negative correlation was found between FSH levels and lumbar spine (r=-0.598, p=0.001) and hip (r=-0.404, p=0.033) BMD. In a multiple regression model adjusted for age and surgery, women with FSH &gt; 35 mIU/ml presented a prevalence rate ratio of 11.79 for low bone mass (p=0.040, IC 95% 1.19 - 124.39). The results of this pilot study in trans women show no difference in bone mass according to GAS status. However, long-term elevated FSH levels observed in some post GAS - trans women, even on HT, presented a negative association with bone mass. Further studies with greater sample sizes are needed to confirm the impact of GAS on bone mass and fracture risk.
MON-119 Osteoporosis Practice: A Pilot Survey of Primary Care Medical Residents
Authors: Yatavelli Rajini Kanth , Craven James , Millar Morgan , Bakian Amanda V , Sundaresh Vishnu 
Published: May 2020

Abstract
Background: Patients with osteoporosis are not adequately managed. This pilot study was aimed at evaluating primary care medical residents’ confidence and knowledge to diagnose and treat osteoporosis.
Methods: A 16-item, a paper-based de-identified survey was administered to all participating primary care medical residents at two independent University programs. Questions collected information on resident demographics, prior endocrinology exposure through a rotation or a didactic in osteoporosis, future career plan, and assessed confidence and knowledge about screening, diagnosis, and management of osteoporosis. Wilcoxon rank-sum tests were used to compare mean ranks and tetrachoric correlations were used to assess the correlation between variables.
Results: A total of 66 (24.4%) residents completed the survey with 59% being male, 64% were in the 1st and 2nd year of training (junior residents) and 36% were in their 3rd and 4th year of training (senior residents). Forty-eight percent had completed endocrinology rotation and 74% had attended a didactic in osteoporosis.
Residents who had an endocrine rotation had significantly higher confidence (p= 0.003) and knowledge (p= 0.04) to diagnose and treat osteoporosis. Residents who attended endocrine didactics had significantly higher confidence (p=0.04) but no difference in knowledge (p= 0.1). Senior residents had a positive correlation between confidence and knowledge (rho= 0.4, p=0.02). There was no difference in confidence level between males and females. Senior residents who had completed an endocrinology rotation were more likely to respond that they feel confident to obtain osteoporosis history and perform a physical exam compared to those who had not completed an endocrinology rotation (p=0.04). Female junior residents who attended didactics were more likely to respond that they have a higher confidence level to screen (p=0.02) and diagnose (p=0.007) osteoporosis compared with female junior residents who did not attend didactics. There was a strong positive correlation between confidence and knowledge for osteoporosis screening among senior residents who attended didactics (rho=0.8, p&lt;0.0001) and for female residents overall (rho=0.75, p&lt;0.0001). Confidence and knowledge for management of osteoporosis were highly correlated among junior residents who had completed endocrine rotation (rho=1, p&lt;0.0001).
Limitation: Limitations of this study include its small sample size and lack of generalizability.
Conclusion: This pilot study provides important insights into the confidence and knowledge among in-training primary care medical residents in two independent University programs. Curriculum development should focus on practical and measurable modules to improve resident knowledge. Findings from this survey need to be replicated in a larger sample size study.
MON-289 Pituitary Metastasis: A Systematic Review
Authors: Parekh Shrina , Kalidas Poonam , Fung Russell K , Hernandez Maria Del Mar Morales , Santhoshi Rupa , Gandhi Gunjan Yogendra 
Published: May 2020

Abstract
Metastatic lesions to the pituitary are uncommon as well as concerning as they do not always have a characteristic radiographic appearance and can be easily missed. We conducted a systematic review of all the published cases and case series of pituitary metastasis to further understand the unique characteristics of these lesions. Using Pubmed and Embase as the primary search engines, we reviewed all cases published from January 1980 to July 2019. A total of 175 unique cases were included in the study. Over 400 cases were collected amongst which a total of 278 cases were included in the study. As part of a challenge with any retrospective study some data points were missing from cases reviewed. Only English language publications were included in the study. The study revealed a predominance of females with 121 cases. Median age was noted to be 61 years. Only 40 patients had previously known metastatic disease. 70 patients were noted have primary cancer arising in the breast which was noted to be the most common primary cancer followed by 64 cases of primary cancer arising from the lungs. Majority of the patients (162 cases) had pituitary hypofunction with deficiency of one or more pituitary hormones. 97 cases were reported to have diabetes insipidus on presentation. Only 40 patients had no visual field deficits whereas 77 patients were reported to have abnormal eye movements. Displacement of the gland superiorly towards optic chiasm was the most common radiographic features in 137 reported cases. Although not commonly reported in most of the published literature, 45 cases were noted to have bony erosion due to expansion of the gland. Only 5 cases were reported to have no contrast enhancement, although many case reports did not specify contrast enhancement of the pituitary. 22 cases were noted to have an aggressive or rapid growth pattern of the pituitary. 13 cases were noted to have edema around the optic chiasm. The pituitary should not be overlooked as a site of metastasis. Many cases can present asymptomatically without biochemical or radiographic characteristics of metastatic lesion. Any biochemical or clinical sign of pituitary pathology in a patient with known cancer should raise suspicion for sellar metastasis. Unique radiographic characteristics should alert the clinicians to consider this possibility. Our study revealed many unique characteristics of metastatic lesions of the pituitary. This should allow clinicians to become aware of the more common findings in these patients allowing prompt diagnosis.
MON-918 Familial Paraganglioma: Familiar Case Report
Authors: Ricardo Gustavo Piech , Naldi Murilo Marques , Calasans Camila Ricci , Chang Claudia Veiga , Tirapeli Renata da Cunha Scalco , Bueno Cristina Bellotti Formiga , Scalissi Nilza , Lima Jose Viana 
Published: May 2020

Abstract
Introduction: Pheochromocytomas and Paragangliomas (PGL) are rare tumors originating from chromaffin cells. They may be sporadic or associated with familial inherited genetic syndromes around 50-80%. There are several PGL syndromes, the most common being PGL 1 (SDHD mutations), PGL 2 (SDHAF), PGL 3 (SDHC), PGL 4 (SDHB), PGL 5 (SDHA), PGL 6 (SLC25A11) and PGL 7 (DLST). SDHB mutations generate a higher probability of malignant PGL, as well as risk of renal, GIST and pituitary neoplasms. We report the case of a patient with a positive family history for the autosomal dominant SDHB mutation.Clinical cases: FZR, male, 19 years old, history of headache, sweating, palpitations, and sudden onset tremors associated with hypertensive peaks. Physical examination: Blood Pressure 140x90mmHg lying down, 110x70 standing up. Performed examinations, of which altered, showed: Plasma metanephrines: 82 pg/mL (RV &lt;65), Plasma normetanephrines: 1.488pg/mL (VR &lt;196), Urinary Catecholamines: 1.784mcg/24h (RV: 80-500), Abdomen Resonance showed an expansive, solid, heterogeneous abdomen mass in posterior contact with the left psoas muscle, medial with the aorta, and lateral with jejunum loops, measuring 7x3.5 cm. MIBG scintigraphy: abnormal uptake in left kidney. Family history: uncle diagnosed with cervical paraganglioma with cervical lymph node metastasis, gastric GIST and PCR genetic sequencing identifying mutation in SDHB (Q.137 G &gt; T in exon 2). Asymptomatic second cousin with positive genetic analysis for the same mutation and another deceased first cousin diagnosed with pheochromocytoma with bone metastasis. He underwent tumor resection that identified retroperitoneal paraganglioma with 10% KI67, Protein S-100, Chromogranin-A and Synaptophysin positive. Carried out PCR genetic analysis that identified the same Q.137 G &gt; T mutation in exon 2 of the SDHB gene in heterozygosis.Twenty-six relatives were called for mutation research, of which 5 positive for the SDHB mutation, until now, including the patient’s mother and twin brother, both already investigating related diseases.We await new family members and, subsequently, the result of the mutation analysis to continue the clinical and laboratory follow-up of this family.Conclusion: Although rare, this condition should be remembered as a differential diagnosis of diseases with such clinical symptoms and, once characterized, investigate possible associations with genetic syndromes.