bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-371 Severe Hypocalcemia Secondary to Pseudohypoparathyroidism
Authors: Ghanta Neelima , Adams Derick 
Published: May 2020

Abstract
Introduction: Pseudohypoparathyroidism (PHP) is a rare disorder characterized by PTH resistance due to a mutation in the GNAS gene causing decreased cyclic AMP generation. The 5 subtypes of PHP include type 1a, 1b, 1c, 2, and pseudo-PHP with type 1a being the most common. Patients with PHP present with hypocalcemia, hyperphosphatemia, appropriately elevated PTH, and suppressed calcitriol levels. PHP type 1a patients have characteristic features including obesity, short stature, round facies, and shortened metacarpals. PHP patients should be evaluated for other endocrinopathies as mutations in the GNAS gene may result in resistance to other hormones like TSH, GHRH, and gonadotropins.
Case Report: This patient is a 25 year old male who presented to clinic for evaluation of hypocalcemia. He denied any personal or family history of calcium disorders, thyroid disease, or parathyroid disease. He admitted to severe fatigue and muscle cramps for over one year leading to a car accident. He was sent to the emergency room and diagnosed with hypocalcemia requiring IV calcium gluconate. He was then seen by his family physician and was found to have elevated intact PTH and low 25-hydroxy vitamin D levels. He was placed on cholecalciferol 5000 international units (IU) daily, ergocalciferol 50,000 IU once weekly, calcium carbonate 500 mg (6 tablets daily), and referred to endocrinology. The physical exam was unremarkable. The laboratory values tested were an intact PTH of 645 pg/mL (10–65 pg/mL), ionized calcium of 4.2 mg/dL (4.6–5.08 mg/dL), magnesium of 2.1 mg/dL (1.5–2.3 mg/dL), 25-OH vitamin D of 31.7 ng/mL (20–100 ng/mL), and creatinine of 0.81 mg/dL (0.7–1.3 mg/dL) four months after starting the above mentioned calcium and vitamin D supplementation. Further testing revealed a phosphorus level of 4.8 mg/dL (2.3–4.7 mg/dL), calcitriol level of 55.8 pg/mL(19.9–79.3 pg/mL), TSH of 10.46 uIU/mL (0.4–4.2 uIU/mL) and free T4 of 1.5 ng/dL (0.8–1.7 ng/dL). His labs were consistent with PHP. Although unknown which PHP subtype, it is likely not type 1a as he lacks its characteristic phenotype. His abnormal thyroid function tests may be secondary to TSH resistance associated with the GNAS gene mutation. He was told to continue the current dose of calcium carbonate but to discontinue ergocalciferol and cholecalciferol. He was placed on calcitriol 0.5 mcg daily. He will have repeat levels of his ionized calcium, calcitriol, TSH, and free T4 in two weeks. If TSH is still above 10 uIU/mL, we will start levothyroxine replacement.
Conclusion: Although a rare disorder, clinicians should have a high index of suspicion for PHP to prevent complications of hypocalcemia (tetany, arrhythmias, seizures) and metabolic bone disease from PTH resistance.
References: Mantovani, G. Pseudohypoparathyroidism: Diagnosis and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 96, Issue 10, 1 October 2011, Pages 3020–3030.
MON-438 Papillary Thyroid Carcinoma Arising in a Thyroglossal Duct Cyst: A Case Report
Authors: Zuniga Gabriela , Fortuna Gliceida Galarza , Guzman-Davant Alejandro , Paramo Juan , Pagacz Michael 
Published: May 2020

Abstract
Introduction: Thyroglossal duct cysts (TGDCs) are uncommon benign congenital entities. Rarely, thyroid carcinoma can arise from a TGDC; the most common being papillary thyroid carcinoma (PTC). Similar to TGDC, carcinomas originating within them can present as an asymptomatic midline neck mass. Signs of malignancy include dysphagia, dysphonia, weight loss, and rapid growth. Given the rarity of TGDC carcinomas, clinical management remains controversial, particularly regarding the requirement for total thyroidectomy.
Case: A 52-year-old female with history of an anterior central neck mass initially noted in 2017. A 0.3-cm left lobe mid-segment cyst and a complex thyroglossal avascular simple cyst measuring 2.4 × 1.1 × 1.8 cm was observed during ultrasound (US). She presented to the endocrinology clinic in April 2019 due to progressive enlargement of the mass.
Repeat thyroid US revealed that the cystic structure had become complex with a peripheral solid component and measured 3.3 × 2.1 × 2.2 cm. FNA was performed and found to be suspicious for PTC (Bethesda category V) and positive for the BRAF V600E mutation.
Patient was referred for surgical evaluation. Physical examination revealed a midline anterior 10-cm, painless, and fixed mass above the thyroid that moved with deglutition and tongue protrusion. Contrast computed tomography scan showed a large multiloculated cystic structure measuring 4.1 × 4.4 × 5.9 cm. A lobulated soft tissue mass measuring 2.2 × 2.4 × 3.0 cm was noted internally along the inferior margin of the cyst. She underwent en-block resection of the TGDC in addition to a total thyroidectomy. Histopathological examination identified a 7.5 × 5.5 × 5.0 cm cystic mass with fluctuation and a firm, solid area in the lower portion measuring 2.6 × 2.4 cm. Thyroid gland examination was otherwise unremarkable. No areas of extension of the mass into the thyroid tissue were clearly identified and no other gross lesions were observed. The solid area within TGDC contained a tumor with findings characteristic of PTC. Postoperatively, she was placed on thyroid hormone replacement therapy.
Conclusion: The main difficulty encountered with cancer developing from TGDC is that the diagnosis is usually made during surgery and from definitive pathological samples. The most common surgical procedure used is the Sistrunk procedure. Some studies have suggested that this procedure alone is an adequate therapy, but others advocate the need for total thyroidectomy. The Sistrunk procedure is considered to be appropriate for low-risk patients, but high-risk patients must undergo total thyroidectomy. The decision to perform a total thyroidectomy in this patient was based on her high-risk classification due to: age, sex, cyst size, and a positive FNA for malignancy. Follow-up includes an annual physical examination, thyroglobulin levels, and an US every 6 months during the first year and annually thereafter.
SUN-170 Adrenal Insufficiency Due to Adrenal Hemorrhage
Authors: Bansal Rashika , Nath Priti V , Hoang Thanh Duc , Mai Vinh Q , Shakir Mohamed K M 
Published: May 2020

Abstract
Introduction: Antiphospholipid Syndrome (APS) can involve multiple organ systems but endocrine manifestations are rare. In most cases adrenal insufficiency (AI) is the first endocrine manifestation of APS. The prompt diagnosis of adrenal insufficiency is critical. We present a case of AI associated with antiphospholipid syndrome who was managed successfully. Case presentation: A 50-year-old man was admitted with deep venous thrombosis of the distal left femoral vein extending to the popliteal vein and was started on xarelto, but he developed pleuritic chest pain and dyspnea in 48 hours. CT scan confirmed a pulmonary embolism and patient was treated with heparin drip. Two days following heparin drip patient developed acute bilateral flank pain and hypotension; and CT abdomen showed 2 masses replacing the adrenal glands that were concerning for hematomas. Laboratory results: serum potassium 4.9 mmol/L, serum cortisol 3.3 mcg/dL (reference 7.2–19.4), ACTH level 319 pg/mL (reference 7–53), aldosterone &lt;1.0 ng/dL (reference 0.0–3.0), and plasma renin activity 7.17 ng/ml/hr (reference, 0.15–3.95). Serum antiphospholipid antibody testing showed cardiolipin Ab Ig 140 GPL/mL (reference 0–14), cardiolipin Ab IgM 100 MPL/mL (reference 0–12) and cardiolipin Ab IgA &gt;150 APL/mL (reference 0–11). Further testing showed beta-2 glycoprotein 1 Ab IgG 103 GPI units (reference 1–20), IgM 94 GPI units (reference 0–32), and IgA 150 GPI units (reference 0–25). His hypotension dramatically improved upon administration of IV hydrocortisone and the abdominal pain resolved in 3 days. Upon discharge he was placed on hydrocortisone and continued warfarin therapy. At a 6-week follow-up visit, patient was asymptomatic. Additional lab tests revealed normal plasma renin activity and aldosterone levels. Two years later an ACTH stimulation test confirmed persistent AI. Basal plasma ACTH level was 230 pg/mL (ref 5–50). Additionally plasma renin activity and serum aldosterone levels indicated no mineralocorticoid deficiency. An adrenal CT scan revealed significant long-term interval decrease in size of bilateral adrenals with hypo-attenuating focus in the right adrenal gland, favored to represent post hemorrhage changes without convincing evidence of underlying neoplasm especially given decrease in size compared to 4-years prior. Presently, patient is doing well on hydrocortisone and warfarin treatment. Conclusion: In all cases of adrenal hemorrhage and infarction with unknown etiology, screening with lupus anticoagulant and anticardiolipin antibodies is imperative. Recognition of this high mortality condition will allow for appropriate screening and confirmatory tests leading to prompt diagnosis and timely management.
SAT-578 A Rare Case of Laboratory Hypertriglyceridemia: Glycerol Kinase Deficiency
Authors: Ueda Masako , Wolska Anna , Sampson Maureen , Burke Frances M , Rader Daniel J , Dunbar Richard L , Remaley Alan T 
Published: May 2020

Abstract
Background: Hypertriglyceridemia (HTG) is common; however, pseudo-HTG due to high glycerol in glycerol kinase deficiency (GKD, MIM: 307030) is a rare cause of HTG that need to be delineated for appropriate management. GKD is an X-linked recessive disorder characterized by hyperglycerolemia and glyceroluria. Two of three GKD subtypes are known as “isolate” GKD due to a mutation in GK gene alone: (1) symptomatic juvenile form, and (2) benign adult form, associated with an incidental finding of HTG.
Since most commercial laboratories determine triglyceride (TG) levels by a glycerol measurement, TG-backbone, patients with GKD are mistakenly labelled as having HTG. Glycerol-blanking is required to reveal the actual TG, but it is costly. Since usual TG-lowering medications are ineffective or even harmful, novel methods to screen for individuals with GKD or pseudo-HTG are necessary.
Objective: Through identification of a clinical case of GKD that was diagnosed by glycerol-blanking, we are proposing two potential methods to screen for pseudo-HTG, and presenting their reliability.
Methods: The patient was recruited into an IRB-approved study investigating etiologies of dyslipidemia at the University of Pennsylvania. Patient provided consent for medical record review.
Results: A 49-year-old man was referred for HTG management. His reported TG levels ranged between 490 and 559 mg/dL without any other adverse lipid levels for several years without a history of pancreatitis or diabetes mellitus. Intriguingly, he reported a family history of HTG.
Since TG-lowering medications (fibrates and fish oil) had not reduced his TG levels, specialized lipid analyses were obtained: a non-blanked TG level of 521 mg/dL and a glycerol-blanked TG of 66 mg/dL, consistent with pseudo-HTG or hyperglycerolemia. Repeat glycerol blanked TG levels were 68 and 69 mg/dL, confirming the previous result, and the likely diagnosis of GKD.
With two methods, estimated TG levels were calculated, using some of his laboratory values: (1) modified Friedewald equation to solve for TG with a direct LDL (dLDL) value, and (2) the application of a newly developed formula derived from a collection of 17,545 patient samples, to calculate the absolute TG-gap, using apolipoprotein A and B, estimating TG levels (% deltaTG), and determining whether a TG mesurement might be falsely deviated from the “plausible” TG value.
Although neither methods showed perfect concordance, the calculated TG-valued derived by the two methods were significantly lower than the non-glycerol blanked TG values. The difference was statistically significant (p&lt;0.05).
Conclusion: The patient was clinically diagnosed with GKD, and was taken off of fibrate and the recently added niacin. These two methods can be used quickly to screen for pseudo-HTG or patients with GKD. Currently, it is unknown whether high glycerol levels are associated with high cardiovascular risks.
SAT-018 Androgen Actions in Adipose Tissue and the Brain Are Key Mediators in the Development of Polycystic Ovary Syndrome
Authors: Cox Madeleine J , Edwards Melissa C , Aflatounian Ali , Paris Valentina Rodriguez , Ledger William L , Gilchrist Robert B , Handelsman David J , Walters Kirsty A 
Published: May 2020

Abstract
Polycystic ovary syndrome (PCOS) is a complex disorder characterised by endocrine, reproductive and metabolic abnormalities. Despite PCOS being the most common endocrinopathy affecting women of reproductive age, its etiology is poorly understood so there is no cure and symptom-oriented treatment is suboptimal. Elucidation of the underlying mechanisms involved in the pathogenesis of PCOS would pave the way for the development of new interventions for PCOS. Hyperandrogenism is the most consistent feature observed in PCOS patients, and recently aberrant neuroendocrine signalling and adipose tissue function have been proposed as playing a pathogenic role in the development of experimental PCOS. To investigate the role of adipose tissue and the brain as potential key sites for androgen receptor (AR)-mediated development of PCOS, we combined an adipocyte and brain-specific ARKO knockout (AdBARKO) mouse model with a dihydrotestosterone (DHT)-induced mouse model of PCOS. Wildtype (WT) and AdBARKO prepubertal mice were implanted with a blank or DHT implant and examined after 12 weeks. In WT control females, DHT exposure induced the PCOS reproductive traits of cycle irregularity, ovulatory dysfunction and reduced follicle health. In contrast, these reproductive features of PCOS were absent in DHT-treated AdBARKO females. The PCOS metabolic characteristics of increased adiposity, adipocyte hypertrophy and hepatic steatosis were induced by DHT in WT females. Despite DHT treatment, AdBARKO females displayed normal white adipose tissue weight, and adipocyte hypertrophy and hepatic steatosis were not evident. However, as with WT mice, DHT treatment induced increased fasting glucose levels in AdBARKO females. These results demonstrate that adipose tissue and the brain are key loci for androgen-mediated actions involved in the developmental origins of PCOS. These findings support targeting adipocyte and neuroendocrine AR-driven pathways in the future development of novel therapeutic strategies for PCOS.
SUN-496 A Challenging Diagnosis of Thyrotoxic Periodic Paralysis
Authors: Mroueh Gabriela , Chemitiganti Ramachandra Rahul V 
Published: May 2020

Abstract
Thyrotoxic Periodic Paralysis (TPP) is a rare but potentially lethal manifestation of hyperthyroidism which is characterized by muscular weakness due to intracellular shift of potassium and subsequent hypokalemia. The muscular weakness may range from mild weakness to complete flaccid paralysis. It is predominantly seen in Asian young men. Graves’ disease has been described as the most common cause of TPP. Other rare causes of hypokalemic periodic paralysis include inherited disorders and acquired cases due to drug abuse, specifically cocaine. It is important to recognize and diagnose TPP to provide appropriate treatment and prevent serious cardiopulmonary complications.
A 26 year old Hispanic male with past medical history of cocaine abuse presented to the emergency department with profound lower extremity weakness since that morning. Laboratory studies on initial evaluation revealed hypokalemia. He was admitted to the intensive care unit (ICU) for IV potassium replacement and cardiac monitoring. Upon obtaining further history, the patient had suffered a similar episode of weakness and hypokalemia two months prior. At the time, he had a positive urine toxicology for cocaine. He was treated with IV potassium with resolution of his weakness and was told the reason for the episode was cocaine induced periodic paralysis. No further work up was done due to patient leaving Against Medical Advice. The patient stopped recreational drug abuse after this diagnosis.
During current hospitalization, further laboratory studies revealed hyperthyroidism. TSI and TPO antibodies were elevated and thus patient was diagnosed with Graves’ disease. On questioning, patient was asymptomatic and clinically euthyroid. He was treated with IV potassium, methimazole and propranolol with quick resolution of weakness. He has been followed in an out-patient basis and he has had no further exacerbations.
In this case, we present a case of TPP that was initially diagnosed as cocaine induced periodic paralysis which is an extremely rare disorder with only a couple of described cases in the literature. Diagnosis was initially missed as the patient was clinically euthyroid and had history of recreational drug abuse. Restoration of euthyroidism eliminates attacks of TPP. It is important to recognize and diagnose these patient to prevent further attacks.
SUN-901 A Case of Coexisting Insulinoma and Islet Cell Hyperplasia
Authors: Chin Yun Ann , Koh Huilin , Kek Peng Chin , Lim Shao Ting Dawn , Bee Yong Mong 
Published: May 2020

Abstract
Introduction
Insulinoma is the most common neuroendocrine tumour of the pancreas and cause of endogenous hyperinsulinemia hypoglycaemia. Islet cell hyperplasia is a rare cause of hypoglycaemia in adults.
Clinical Case
A 42-year-old lady presented with hyperphagia, giddiness, decreased concentration and weight gain of 10 kg over one year. Her symptoms occurred both during fasting and postprandial. She did not have any medical conditions and did not take alcohol.
A 72-hour fast confirmed the presence of endogenous hyperinsulinemia; serum glucose of 2.4 mmol/L paired with insulin 8.14 mU/L and C -peptide 0.71 nmol/L occurring after 16 hours of fasting. Screening for sulphonylureas and meglitinides was negative. Serum beta-hydroxybutyrate was 0.1 mmol/L with a 1.6 mmol/L rise in serum glucose post 1 mg glucagon administration. Computed tomography (CT) of the abdomen showed a 13 X 11 X 15 mm exophytic lesion at the superior aspect of the pancreatic body and another exophytic projection measuring 9 X 8 X 6 mm arising from the tail. In view of possible multifocal insulinoma, a 68Ga-DOTATATE scan was performed and it showed an intensely DOTATATE-avid exophytic nodule arising from the pancreatic body and a second indeterminate DOTATATE-avid nodule close to the pancreatic tail. In addition, there was diffuse DOTATATE uptake in the tail of pancreas.
She underwent enucleation of pancreatic body nodule and spleen-saving distal pancreatectomy as the pancreatic tail nodule was not seen intra-operatively. Histology showed an insulinoma; a well-differentiated neuroendocrine tumour (Grade 1, pT1 N0 Mx) that was positively stained for synaptophysin, CD56, insulin, SSTR2 and SSTR5. The pancreatic tail nodule and distal pancreatectomy specimen showed islet cell hyperplasia; the pancreatic parenchyma showed multiple foci of well-circumscribed nests of bland islet cells with similar morphology to those seen in the insulinoma. She did not have further hypoglycaemia episodes post-operatively.
Concomitant presence of fasting and postprandial hypoglycaemia may suggest underlying dual pathology. Clinical and biochemical differentiation between insulinoma and islet cell hyperplasia is difficult. Therefore, imaging for diagnosis and precise preoperative localisation is important for successful resection of suspected lesions. 68Ga-DOTATATE scan can be as useful as 68Ga-DOTANOC and 68Ga-DOTATOC scan and is better than CT scan in localising not only insulinoma but also islet cell hyperplasia. In this case, islet cell hyperplasia-induced hyperinsulinemic hypoglycaemia may have persisted if distal pancreatectomy was not performed.
Conclusion
Adult-onset endogenous hyperinsulinemia hypoglycaemia can be caused by concurrent insulinoma and islet cell hyperplasia. 68Ga-DOTATATE scan may be a useful, non-invasive investigation, especially in cases where CT imaging suggests multifocal disease.
SUN-250 Effects of Anti-Mullerian Hormone on the Expression of Gonadotropin Subunits in Pituitary Gonadotroph Cell Models
Authors: Kanasaki Haruhiko , Oride Aki , Tumurbaatar Tuvshintugs , Tumurgan Zolzaya , Kyo Satoru 
Published: May 2020

Abstract
Aim: We examined the effect of anti-Müllerian hormone (AMH) on the expression of gonadotropin subunits in pituitary gonadotrophs.Methods: The mouse pituitary gonadotroph cell line LβT2 was stimulated with AMH and the expression levels of gonadotropin subunits were determined by real-time PCR. We also examined the involvement of the Kiss-1 gene (encoding kisspeptin) and the kisspeptin receptor (Kiss-1R) in LβT2 cells. Results: A significant increase was observed in the expression level of the FSHβ subunit with AMH but not in the expression levels of gonadotropin α and LHβ subunits. A significant decrease was observed in the expression of Kiss-1 and Kiss-1R genes in LβT2 cells with AMH stimulation. Kiss-1 gene knockdown by siRNA did not alter the basal expression of gonadotropin subunits. When LβT2 cells overexpressing Kiss-1R were stimulated with kisspeptin, there was a significant increase in the gene expression levels of the gonadotropin subunits α, LHβ, and FSHβ. This inductive effect of kisspeptin was almost completely inhibited by AMH pretreatment. The GnRH-induced increase in gonadotropin subunit genes was unchanged in the presence of AMH. Conclusions: AMH can increase FSHβ subunit gene expression in pituitary gonadotroph cells. However, AMH decreases Kiss-1 and Kiss-1R gene expression within the gonadotrophs. Because AMH pretreatment abolishes kisspeptin-induced expression of gonadotropin subunit genes, AMH may control kisspeptin-regulated gonadotropin expression by inhibiting the expression and function of Kiss-1R within gonadotrophs.