bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-081 Hidden in Plain Sight: Rethinking Our Approach to Allan-Herndon-Dudley Syndrome
Authors: Dye Alyssa M , Nelson Grace Bazan , Diaz-Thomas Alicia Marie 
Published: May 2020

Abstract
Background: Allan-Herndon-Dudley (AHD) is a rare X-linked disorder with neurological manifestations secondary to a mutation in monocarboxylate transporter 8, a protein that transports T3 into nerve cells in the brain. AHD is characterized by increased serum free T3, decreased serum free T4 and normal serum TSH levels as well as the severe neurological manifestations including global developmental delay, hypotonia, and joint contractures (1). A phase 2 trial using triodyothyroacetic acid has shown promise in treating this disorder (2). We report on three children who were diagnosed by whole exome sequencing after presenting with neurological manifestations.
Clinical Cases: Patient 1 presented at 4 months to the neurology clinic for seizures. He had a normal newborn screen. Worsening developmental delays and central hypotonia prompted a brain MRI that revealed delayed myelination for age. At 6 months a chromosomal microarray and metabolic work-up were performed and were nondiagnostic. Whole exome sequencing was obtained at the age of 4.5 years revealing a mutation in the SLC16A2 gene (p.Ser210Tyr). Thyroid studies were consistent with the diagnosis.
Patient 2 presented to neurology at 9 months for developmental delay. A brain MRI was obtained which was within normal limits. At 14 months an acylcarnitine profile was obtained which indicated a possible CPT1 deficiency, which did not fit his clinical picture. Chromosomal microarray as well as work-up for inborn errors of metabolism were performed and were nondiagnostic. Thyroid studies were obtained which showed low free T4 with normal TSH. Whole exome sequencing was obtained at the age of 2.5 years, which revealed a mutation in SLC16A2 (p.R371C).
Patient 3 presented as sibling of patient 2 with known AHD syndrome. Testing for SLC16A2 was performed at the age of 5 months and returned positive for same mutation as sibling (p.R371C).
Conclusion: Allan-Herndon-Dudley syndrome is a rare neurological disease secondary to a mutation in the T3 transporter protein to nervous tissue. A high index of suspicion as well as thyroid studies should be obtained in patients presenting with central hypotonia and global developmental delay with normal newborn screens, particularly in states that use TSH as a screening test. This is especially important as treatments are becoming available that may help prevent neurological devastation seen in these patients.
References:
1. Dumitrescu AM, Fu J, Dempsey MA, Refetoff S. MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993
2. Groeneweg S, Peeters RP, Moran C, et al. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial. Lancet Diabetes Endocrinol. 2019;7(9):695-706.
SAT-390 Preoperative Parathyroid Ultrasound Imaging - Pitfalls and Ways to Improve Diagnostic Accuracy
Authors: Goundan Poorani , Patel Harshal , Lee Stephanie L 
Published: May 2020

Abstract
Introduction: Parathyroid ultrasound (US) is commonly used for pre-operative imaging to facilitate focused parathyroid surgery. It provides point-of-care imaging without ionizing radiation and is less expensive compared to nuclear scintigraphy or computed tomography (CT). Parathyroid US is, however, operator skill and experience dependent. Methods: The charts of all patient who underwent parathyroid surgery between 2016 and 2018 were reviewed. Investigators reviewed the pre-operative US images and correlated these findings with pathology reports, operative notes and with results of CT and nuclear scintigraphy imaging. The US characteristics of parathyroid lesions were described. Results: In total 146 patients underwent parathyroid surgery during the three-year study period. The average age of the cohort was 55.1 +/- 15.1 years and the male to female ratio was 1:2.6. The average pre-operative serum calcium and PTH levels were 11.6 +/- 0.9 mg/dL and 310.9 +/-305 pg/ml, respectively. 134 out of 138 patients with preoperative PTH US had images available for review by investigators. Compared to the pre-operative read that identified 106 lesions, 19 additional parathyroid lesions were identified: seven (36.8%) were easily identifiable lesions with typical US features, 3 (15.8%) were easily identifiable lesions with atypical US features, 5 (26.3%) were lesions adherent to the thyroid gland and 9 (47.4%) were small lesions that were likely only identified by the investigators due to knowledge of the final pathology and intraoperative findings. Forty-seven parathyroid lesions could not be identified by investigators and one or more of the following reasons were determined as possible explanations: lesion was small in size (14.9%), presence of a large thyroid gland (27.7%), location of the lesion deep in the neck or at an ectopic location (21.3%). The quality of stored images was inadequate in 31.9% of these cases. After review, 67.1% (compared to the actual detection rate of 61.3%) of parathyroid lesions should have been identified on preoperative US. Sixty percent of parathyroid lesions were left sided and 66.9% were inferior in location. The shapes observed were oval (48.8%), conforming (50.4%) or elongated (&lt;1%) and echogenicity was hypoechoic (86.8%) or isoechoic (13.2%). Only a small percentage had a target sign (6.6%) or were partially cystic (7.4%). 74.8% demonstrated a feeding vessel and 33.6% had vascular arborization or scattered vascularity. Conclusions: While parathyroid lesions with typical US feature and locations are easily identified, the common reasons for failure to identify a lesion include atypical features, small size, slender configuration and adherence to the thyroid gland. Being aware of these possibilities can improve detection rate. Parathyroid lesions are also less likely to be identified when present deep in the neck or at an ectopic location outside of the neck.
SAT-510 Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
Authors: Proudan Nikoletta , Gordon Murray B 
Published: May 2020

Abstract
Myotonic dystrophy (MD) is a multisystemic, autosomal dominant disorder associated with progressive muscle weakness, premature cataracts, frontal baldness, and cardiac disturbances. MD has been associated with several endocrinopathies including primary testicular failure, autoimmune endocrinopathies (hypothyroidism, hyperthyroidism, multinodular goiter, and Addison’s disease), thyroid carcinoma (primarily papillary), insulin resistance, and type 2 DM. Development of diabetes is thought to be related to formation of an insulin-resistant receptor because of aberrant regulation of mRNA. We describe the first reported case of a patient with MD associated with type I diabetes mellitus, Hashimoto’s thyroiditis with hypothyroidism, and follicular variant of papillary thyroid cancer. A 49-year-old female presented with acute congestive heart failure. The patient had history of type I DM diagnosed at the age of 26, complicated by mild background retinopathy, peripheral neuropathy, and nephropathy with microalbuminuria. The patient first noticed proximal muscle weakness 1 year ago that gradually progressed resulting in multiple falls. She had history of bilateral cataracts status post cataract extraction at age 26. She also had progressive dysphagia requiring PEG placement, and cognitive dysfunction with mood disorder and depression. Family history was significant for myotonic dystrophy in both maternal aunt and uncle as well as 2 cousins. EMG confirmed myotonia however genetic testing was not obtained due to cost. Due to her cognitive dysfunction and depression, she had difficult to control diabetes with HbA1c of 9.9%, and multiple previous admissions for DKA. She was status post total thyroidectomy in 2008 for follicular variant of papillary carcinoma and Hashimoto’s thyroiditis followed by I-131 therapy in 2009 and maintained on levothyroxine suppression therapy. Most recent Tg and Tg Ab were undetectable. On physical exam, the patient had a narrow, sallow face with temporal muscle atrophy, percussion myoclonus involving the thenar eminence of the hands, but no frontal balding. Work up showed LVEF of 20-24% with regional hypokinesis that led to catherization and PCI to LAD. The patient had recurrent NSTEMI which eventually resulted in CABG 1 year after presentation. The association of autoimmune endocrinopathies, thyroid carcinoma and MD suggests a possible cause and effect relationship between these disorders. In patients with diabetes and MD, previously described insulin resistance as well as cognitive dysfunction can hinder good glycemic control increasing risk for complications. Although patients with MD are typically treated by neurologists, evaluation and therapy of endocrine dysfunctions are also necessary.
MON-055 A Rare Case of a Macroadenoma Causing Cushing Syndrome in a Pediatric Patient
Authors: Patel Erica , Weigensberg Marc 
Published: May 2020

Abstract
Background: Pediatric Cushing Syndrome, a rare diagnosis, is almost always caused by pituitary microadenomas less than 5 mm in children older than 6 years old. We report on a 9-year-old girl with a 2.3 cm pituitary macroadenoma, whose ACTH and urinary 24-hour free cortisol were the highest recorded at our institution. Clinical Case: A 9-year-old pre-pubertal female presented with six months of frontal headaches, rapid weight gain, and hirsutism. Two months prior she developed fatigue and proximal muscle weakness and pain. On physical exam, she had plethoric round facies with acne and hirsutism, dorsal fat pad, central adiposity, and violet colored abdominal striae. Her pubertal development was tanner stage 3 for breast and 2 for pubic hair. BMI was 95th percentile and height was 40th percentile, previously 75th and 50th percentile respectively one year prior. 24 hour urinary free cortisol was 40,650 mcg/day [normal:100 mcg/day]. A 48 hour high dose dexamethasone suppression test was done as it is the most accurate in pediatric patients over 40 kg, morning cortisol was 100 mcg/dL [normal: 5-20 mcg/dL], ACTH 868 pg/ml [normal: 9-57 pg/ml], 24 Urinary Free Cortisol was 15,878 mcg/day [normal: 100 mcg/day]. A MRI Pituitary/Sella revealed a 2.3 cm pituitary macroadenoma superiorly displacing and flattening the optic chiasm, invading into the right cavernous sinus. She was referred to Neurosurgery, who did a partial transphenoidal resection, pathology consistent with ACTH producing tumor. Post-operatively she developed central diabetes insipidus and adrenal insufficiency for which she received desmopressin and oral hydrocortisone respectively. Her laboratory values eight months since surgery show normalization of ACTH and cortisol levels. The patient’s general health has improved, headaches have resolved, strength has returned, and her hirsutism is reduced. Her BMI remains elevated at 88% but is declining and growth velocity is increasing back to her pre-disease level. Conclusion: Cushing Syndrome is exceedingly rare in pediatric aged patients and pituitary macroadenomas are atypical in this population.This is a unique case of an ACTH producing macroadenoma in a Pediatric patient, which has seldom been reported in the literature, and should be considered in patients with similar presenting symptoms.
SUN-483 A Retrospective Diagnosis of Malignant Struma Ovarii After Discovery of Pulmonary Metastases
Authors: Qureshi Maham , Kishore Preeti , Boucai Laura 
Published: May 2020

Abstract
Background: Malignant struma ovarii is a rare ovarian tumor that is histologically identical to differentiated thyroid carcinoma.1 We present a case of a struma ovarii that was recognized as being malignant only after the discovery of pulmonary metastases.
Clinical Case: A 29 year old female presented to the hospital with acute right lower abdominal pain, suspicious for ovarian torsion. She underwent urgent right salpingoopherectomy and pathology demonstrated a mature cystic teratoma with benign struma ovarii. Two years later, a CT of the abdomen incidentally revealed bilateral pulmonary nodules. Review of the imaging showed that these pulmonary nodules were also present two years prior, and had since become larger. Video-assisted thoracoscopic surgery was performed and lung biopsy was positive for well-differentiated thyroid carcinoma. The patient then underwent total thyroidectomy which revealed a 0.3 x 0.3 cm infiltrative papillary thyroid cancer, follicular variant, without lymphovascular invasion. Thyroglobulin level decreased from 169 ng/mL pre-operatively to 80 ng/mL post-operatively, but then continued to be variable ranging from 56 to 252 ng/mL (1.6-50 ng/mL). Thyroglobulin antibodies remained negative.
Pathology from right ovary was re-reviewed at a second institution and found to be consistent with highly differentiated thyroid carcinoma with characteristic nuclear features of papillary thyroid carcinoma.
A diagnostic whole body I-131 scan showed uptake within the thyroid bed, bilateral lung nodules, left distal thigh and right mid thigh. These thigh lesions were not visualized on lower extremity ultrasound. After dosimetry was performed, the patient received radioactive iodine-131 200 mCI. Post-therapy scan six days later demonstrated uptake in the thyroid bed, bilateral lungs and bilateral thighs. About five months later, thyroglobulin level had decreased to 0.4 ng/mL with a suppressed TSH. A repeat CT chest demonstrated that the lung nodules had all decreased in size, largest from 0.5 cm to 0.3 cm.
Conclusion: Careful examination of struma ovarii pathology should be performed to evaluate for malignant features since benign appearing histology can present diagnostic difficulty.2 In this case, thyroglobulin level was lower than reported in previous cases; however, sites of metastases were responsive to radioactive iodine therapy indicating well differentiated disease and a favorable prognosis.
References: 1. Goffredo P, Sawka AM, Pura J, Adam MA, Roman SA, Sosa JA. Malignant Struma Ovarii: A Population-Level Analysis of a Large Series of 68 Patients. Thyroid. 2015:25(2): 211-216.
2. Roth LM, Miller AW, Talerman A. Typical Thyroid-Type Carcinoma Arising in Struma Ovarii: A Report of 4 Cases and Review of Literature. Int J Gynecol Pathol. 2008:27(4): 496-506.
SUN-742 Roles of Progesterone Receptor Isoform B in Non-Small Cell Lung Cancer Tumor Progression
Authors: Asavasupreechar Teeranut , Saito Ryoko , Miki Yasuhiro , Edwards Dean Paul , Boonyaratanakornkit Viroj , Sasano Hironobu 
Published: May 2020

Abstract
Lung cancer is a leading cause of cancer mortality worldwide. Premenopausal women often has worse survival with advanced stages of the disease compared to postmenopausal women, suggesting an involvement of sex steroids and their receptors in the progression of non-small cell lung cancer (NSCLC). Progesterone receptor (PR) was reported to be involved in an inhibition of NSCLC cell proliferation and correlated with better clinical outcome. In addition, PRB suppressed epidermal growth factor (EGF)-induced NSCLC cell proliferation and activation of ERK1/2, in the absence of progestin. However, clinical and biological significance of PRB in NSCLC patients has remained virtually unknown. Therefore, we performed immunohistochemistry using monoclonal antibody specific to the N-terminus of PRB (250H11 mAb) and 1294mAb which could detect both PRA and PRB in 124 NSCLC cases: 94 adenocarcinoma and 30 squamous cell carcinoma (SCC). Overall survival (OS) was analyzed using the Kaplan-Meier plotter (KM plotter) database, examining the correlation between the status of PRs and survival rate of the patients.
19 cases were immunohistochemically positive for PRB and 23 PRA/B positive NSCLC cases, and all of four cases harboring abundant PRs were also positive for PRB. Therefore, PRB positivity was considered to be significantly correlated with the whole PR (&lt;0.01). Of particular interest, the abundance of PR or PRB was significantly correlated with lower tumor size in total NSCLC (p=0.0395) and SCC (p=0.023), and tended to be correlated with pleural invasion in adenocarcinoma cases (p=0.051). In addition, PRB positive cases tend to have lower tumor size than those positive with PRA/B. The analysis using KM plotter also revealed that PR was a good prognostic factor in total NSCLC patients.
Our data demonstrated that not only PR but also PRB could be a good prognostic factor and have an important role on tumor progressing in NSCLC patients. In order to further elucidate the molecular mechanisms of PRB signaling in NSCLC, we are now performing further in vitro studies. Results of our present study could contribute to the development of novel therapeutic strategies targeting PR and/or PRB in NSCLC patients.
MON-910 I’m Not Crazy! I Get a Headache When I Pee: A Case of Metastatic Bladder Paraganglioma
Authors: Sunny Sonie , Behari Gauri , Correa Ricardo , Alsayed Mahmoud , Jyothinagaram Sathya 
Published: May 2020

Abstract
Tumors of chromaffin cells derived from the embryonic neural crest are classified as pheochromocytomas when located in the medulla of the adrenal glands and paragangliomas when located externally to it. Bladder paragangliomas constitute less than 1% of all catecholamine-secreting neuroendocrine tumors. Usually, these tumors are functional and symptomatic, but in other cases, they can be silent. We present an interesting case of a patient with post-micturition catecholaminergic crises that went undiagnosed for several years until found to have a bladder paraganglioma.
A 60-year-old male with a past medical history of TIA, HTN, CAD, and ischemic cardiomyopathy presented with post-micturition headaches since age 14. Despite work up, no etiology was found. Eventually, the patient was referred to mental health for what was thought to be somatic symptoms. In 2010, he was diagnosed with hypertension and started keeping daily blood pressure (BP) logs, which showed BP fluctuation as high as 260s/110s with high-volume micturition, yet normotensive at other times. This led to imaging and cystoscopy which revealed a 6-cm bladder lesion. Surgical resection was completed, and pathology showed paraganglioma with positive margins and lymphovascular invasion. He was lost to follow up until 2017 when he presented with hypertensive crisis. CT and octreotide scan showed numerous osseous lytic lesions concerning for metastases. Laboratory testing confirmed excess catecholamines. He was referred to oncology, and after consideration of several treatment options, the patient was started on Xgeva and Sandostatin LAR. However, he passed away shortly thereafter.
Bladder paragangliomas are very rare and account for 6% of extra-adrenal pheochromocytomas. They occur more frequently in women than in men and clinically present mainly during the third decade of life. The patient typically suffers from hypertensive crises that may be accompanied by headache, palpitations, hot flushes, and sweating. These crises are mainly provoked by micturition, overdistention of the bladder, defecation, sexual activity, ejaculation, or bladder instrumentation. If there is high suspicion, biochemical and functional imaging workup should be performed. Surgery is the mainstay of the treatment and requires total excision. If diagnosed preoperatively, a partial cystectomy is preferred over trans-urethral resection as the majority of these tumors extend in the deep layers of the detrusor muscle. Because they are likely to recur and to metastasize, annual follow up with a measurement of plasma and urinary catecholamine levels and cystoscopy are essential. A functional imaging study (Ga-DOTATE scan) should be done to locate recurrence if symptoms reappear or catecholamine resurgence occurs.
MON-369 Calcium Gone Crazy: Recurrent Hypercalcemia in Patient with History of Hypoparathyroidism
Authors: Tarar Omer H , Rao Ambika 
Published: May 2020

Abstract
Introduction
Patients with post-operative hypoparathyroidism mostly require Calcium supplements and Calcitriol with goal of maintaining calcium levels in low normal range. However, calcium balance can further be dysregulated by other factors including renal failure in patients with otherwise stable levels.
We present a case of recurrent symptomatic hypercalcemia leading to multiple hospital visits in a patient with otherwise stable longstanding post-operative hypoparathyroidism that was precipitated after episode of Acute Renal Failure.
Case Presentation
71 Year old male with past medical history of Atrial fibrillation, Hypertension, Primary Hyperparathyroidism status post Parathyroidectomy (Parathyroid hyperplasia with removal of 3/12 glands) in 2003 with subsequent Hypoparathyroidism presented with lethargy and confusion few days after cardioversion attempt for atrial fibrillation. He was noted to have bradycardia and hypotension post procedure which improved subsequently. His medications included Calcitriol 0.25 mcg twice daily and Calcium Carbonate 1.25 grams twice daily. His Calcium had remained stable over the years on this regimen.
On presentation, he was found to have elevated corrected calcium of 12.5 mg/dl and Acute Renal failure with Creatinine of 8.3 mg/dl which was normal 1 week prior. He underwent hydration and subsequently required few sessions of hemodialysis with improvement in kidney function and further hemodialysis was not needed. On discharge his corrected calcium was 8.6 mg/dl and Creatinine was 3.9 mg/dl. His Calcitriol and Calcium were resumed on discharge. However, 3 weeks later he presented again with lethargy and calcium was again elevated at 14.8 mg/dl. All other workup for hypercalcemia including PTHRP, Bone marrow biopsy, Serum electrophoresis were negative. Subsequently, he had 2 more admissions for hypercalcemia and 1 admission for hypocalcemia within 1 month. Finally his calcium levels stabilized with reduced dose of Calcitriol and Calcium with close weekly monitoring initially as outpatient.
Discussion
In advancing kidney disease, the kidneys are no longer able to increase urine calcium excretion, and this removes an important safety mechanism to prevent calcium excess in patients with Chronic kidney disease. In patients with hypoparathyroidism on Calcitriol and Calcium supplements, renal failure may offset the calcium balance leading to dysregulation and erratic levels with increased tendency towards hypercalcemia.
Conclusion
Acute Renal Failure may lead to hypercalcemia in patients with otherwise stable levels. However, limited understanding of calcium balance/ regulation in renal failure, especially in setting of hypoparathyroidism further complicates the situation and may lead to difficult titration of medications.