bluuebunny/crossref_metadata_2025 huggingface dataset:
MON-075 Autonomy and Self-Determination in a Patient with XY Gonadal Dysgenesis
Authors: Moryan-Blanchard Kristen , Karaviti Lefkothea P , Axelrad Marni
Published: May 2020

Background:

XY gonadal dysgenesis is characterized by the presence of male chromosomes with atypical testes differentiation. Due to an impaired ability to make testosterone, patients are often under-virilized at birth and present with ambiguous genitalia. For multidisciplinary teams specialized in disorders of sex development (DSD), gonadal dysgenesis presents challenges in sex assignment, initiation of hormonal therapy, and timing of surgical interventions. Recent discussions have reconsidered early interventions in favor of preserving self-determination in decisions regarding gender and anatomy.

Case:

LT initially presented at 3 years old, after her grandmother noted her abnormal appearing genitalia. Examination revealed clitoromegaly, 1.8 cm in length and 0.8 cm in width, with a blind, open introitus. XY gonadal dysgenesis was diagnosed, based on a pelvic MRI, cystourtheroscopy/vaginoscopy, genetic and hormonal testing.

LT was lost to follow-up for 6 years. At 11 years old, LT had been consistently raised as a female. When asked about gender identity, LT’s understanding of gender identity developed over time. At 11 years old, LT declared her gender identity as a “boy”, because boys are “strong”, and because she did not like make-up. LT denied any desire for breast development and explained that her family told her that breasts ‘make it hard to run fast.’

On follow-up evaluation 6 months later, LT voiced her decision to be a girl, and said that she was very confident in this decision. LT and her parents both desired estrogen therapy for induction of puberty. After discussions regarding the permanent effects of therapy, LT started hormone therapy. Two months after initiation of therapy, she remained firm in her gender identity and expressed a desire to grow her hair long. She independently stated that she did not desire surgery at this time. She will receive formal psychological testing at her next clinical evaluation to evaluate her for body dysmorphia, anxiety, and depression.

Discussion

LT’s case demonstrates the progression of developmental understanding of gender and expressed gender identity that may occur as learning progresses in patients with DSDs. This case also shows that a delay in surgery may not have significant developmental consequences to these patients as was previously suggested. In general, the American medical system has tended to perform early sex assignments and surgical interventions to align anatomy with the sex assignment. However, after thoughtful discussions regarding human rights concerns, many have recommended to delay surgical interventions until adolescence, when the patient can consent appropriately to interventions that cause permanent anatomic changes. As many of these interventions may be discussed in early adolescence, it is of the utmost importance that information is presented in an understandable and developmentally appropriate manner.
MON-458 Elevated Thyroglobulin Level in Benign Thyroid Nodule
Authors: Murphy Cara , Gupta Ankur
Published: May 2020

Background: Elevated thyroglobulin levels are most commonly associated with differentiated thyroid carcinoma and these levels are often used to monitor for disease recurrence. Thyroglobulin antibody levels can be elevated in both Hashimoto’s Thyroiditis and Graves’ Disease and these antibodies can interfere with thyroglobulin levels as detailed by Spencer, Wang (1). With benign thyroid nodules, there is limited research regarding thyroglobulin levels as studied in Chinnappa, et al (2).

Clinical Case: A 31-year woman presented with a palpable thyroid nodule and dysphagia. Her primary care physician ordered thyroid labs including normal TSH (1.3 mIU/L, n0.4-4 mIU/L), normal thyroid peroxidase antibody (56 units, n<250units), normal thyroglobulin antibody level (<1 IU/mL, n<1 IU/mL), and elevated thyroglobulin level (469.1 ng/mL, n2.8-40.9 ng/mL). Her thyroglobulin levels remained elevated on repeat testing (224.4 ng/mL, n2.8-40.9) one month later. In addition, her thyroglobulin lab studies were repeated with HAMA treatment and remained elevated (277.7 ng/mL, n2.8-40.9). Office ultrasound showed longest dimension of nodule to be 5 cm and patient received FNA biopsy. Biopsy results were reported as a benign nodule and it was recommended to follow-up in 12 months. Six months later the patient reported having increasing dysphagia. She underwent Barium swallow which showed no abnormalities. She had a growth increase of 35% on repeat imaging along with increasing neck pressure and discomfort and was referred to an ENT for surgery. Final pathology after left thyroid and isthmus thyroidectomy was reported as “Multinodular hyperplasia with background thyroid parenchyma histologically unremarkable. Negative for malignancy.” Thyroglobulin levels subsequently returned to within the normal range and the patient’s dysphagia resolved.

Conclusion: Thyroglobulin levels can be markedly elevated with benign thyroid nodules, which can mislead physicians and increase concern for thyroid cancer.

References: (1) Spencer, CA, Wang, CC. Thyroglobulin measurement. Techniques, clinical benefits, and pitfalls. Endocrinol Metab Clin North Am. 1995 Dec; 24(4): 841-63.

(2) Chinnappa, P, Taguba, L, Arciaga, R, Faiman, C, Siperstein, A, Mehta, AE, Reddy SK, Nasr, C, Gupta MK. Detection of thyrotropin-receptor messenger ribonucleic acid (mRNA) and thyroglobulin mRNA transcripts in peripheral blood of patients with thyroid disease: sensitive and specific markers for thyroid cancer. J Clin Endocrinol Metab. 2004 Aug;89(8):3705-9.
SAT-480 Myxedema Madness: A Rare Case of Severe Hypothyroidism Presenting as Psychosis
Authors: Kohm Kevin , Vekaria Shivani , Xu Jack , Nasr Carol , Hogshire Lauren
Published: May 2020

Introduction

Myxedema coma is a rare, life-threatening medical emergency resulting from uncontrolled hypothyroidism. Myxedema coma refers to the neurological sequelae of severe hypothyroidism, which classically manifests as depressed mental status. Rarely, myxedema coma can present with a hyperactive mental state and psychosis. We present an unusual case of a drug overdose secondary to myxedema coma-induced psychosis.

Clinical Case

A 48 year old woman with a history of seizure disorder and hypothyroidism presented to the hospital after lamotrigine overdose. The patient’s spouse witnessed her ingest forty-five tablets of lamotrigine after an argument. The patient had no previous psychiatric diagnoses or suicide attempts. On examination, the patient was hemodynamically stable but was agitated, disoriented, and uncooperative. She had a normal neurologic exam and no peripheral edema. Her lamotrigine level was 25.4 ug/ml (2.5-15.0 ug/ml). The patient’s mental status did not improve with lamotrigine cessation. Psychiatry determined that the patient’s psychosis was not consistent with lamotrigine overdose. Given these recommendations, alternative causes of psychosis were considered. The patient’s husband stated she had not taken levothyroxine for over one year. Thyroid function tests revealed a thyroid stimulating hormone (TSH) of 299 mcIU/ml (0.35-5.50 mcIU/ml) with a free thyroxine (T4) level of 0.27 ng/dl (0.89-1.76 ng/gl). The patient was started on levothyroxine intravenously. After five doses of intravenous levothyroxine, her mental status improved to baseline and she was transitioned to oral levothyroxine. She denied that the lamotrigine ingestion was a suicide attempt. Based on the patient’s presentation and clinical course, we concluded that her overdose was due to severe hypothyroidism leading to myxedema madness.

Conclusion

Severe hypothyroidism with myxedema coma often presents with depressed mental status, which can manifest as progressive confusion, lethargy, and eventually coma. However, in the case of our patient, severe hypothyroidism presented as psychosis, a rare manifestation. Remarkably, the patient had no other obvious physical manifestations of severe hypothyroidism. Psychosis, though rare, has been seen in cases typically after thyroidectomy or in patients with previously undiagnosed Hashimoto’s thyroiditis. In this patient’s case, it is likely that her myxedema madness was precipitated by long-term nonadherence with her thyroid replacement therapy, as the patient had no prior psychiatric history. Additionally, her rapid reversal of symptoms after the administration of levothyroxine supports the diagnosis of hypothyroid-induced myxedema madness.
SAT-350 A Tale of Two Mutations: Familial Hypocalciuric Hypercalcemia Caused by a Novel CaSR Start Codon Mutation Found in the Setting of a CaSR Hypercalciuric Variant
Authors: Bandaru Sindhura , Pelley Elaine Michelle
Published: May 2020

Background: The calcium-sensing receptor (CaSR) mediates PTH production and renal calcium excretion by sensing circulating calcium levels. Activating mutations in the CaSR can cause a spectrum of phenotypes from overt hypoparathyroidism to isolated hypercalciuria. Inactivating mutations of the CaSR lead to the syndrome of familial hypocalciuric hypercalcemia (FHH) where the protein produced is less sensitive to calcium. A mutation in the start codon of the CaSR leading to FHH has not previously been reported. Case: 60-year-old female was seen for evaluation of osteoporosis with lowest T- score of -2.9 at spine. She had no family history of calcium disorders. Biochemical evaluation for secondary etiologies of bone loss showed persistent PTH-dependent hypercalcemia (with albumin-corrected serum calcium of 10.4-10.8 mg/dl, and PTH 64-78 pg/ml), initially raising suspicion for primary hyperparathyroidism. Subsequent testing showed a low 24-hour urine calcium (82 mg/day) despite adequate daily calcium intake, robust 25-hydroxy vitamin D levels (47 ng/ml), and normal renal function. Calcium/creatinine clearance ratio was low at 0.0064 and FHH was suspected. CaSR gene sequencing revealed two heterozygous abnormalities: (1) a likely pathogenic mutation in the start codon of the CaSR (c.3G>A (p.M1?)) that has not been previously reported (p.M1? indicates that it is not known whether the mutation leads to no CaSR being produced from that allele or if an abnormal protein is produced using an alternate methionine start codon) and (2) a low-prevalence activation mutation variant of the CaSR (p.R990G), which is associated with hypercalciuria and increased risk of kidney stones but generally does not cause hypocalcemia. Genetic testing was unable to determine if these two mutations were on the same (cis) or opposite (trans) alleles. If they are on opposite alleles, the phenotype represents the heterozygous loss-of-function CaSR abnormality with compensation by an activating mutation in the opposite allele. If they are on the same allele, the activating variant is either not expressed at all due to nontranslation or is located on an abnormal/shortened protein. CaSR sequencing of the patient’s daughter was normal. In the absence of recombination occurring between the two loci, this strongly suggests the two were on the same allele in this case. Discussion: Thus far, > 100 mutations in the CaSR gene causing FHH have been described; but to our knowledge, this case is the first report of a start codon mutation causing FHH. This happened to be identified in the setting of a low-prevalence hypercalciuric variant. Familial testing strongly suggested the two mutations were on the same allele. The activating mutation, therefore, was likely functionally silenced in this case.
SAT-121 Secretin Stimulation Test in a Patient Receiving Proton PUMP Inhibitor Therapy- to Do or Not to Do?
Authors: Madhavan Parvathy , Aftab Hassaan , Tendler Beatriz
Published: May 2020

Introduction:

Complications of gastrinoma cause increase in mortality in patients with MEN syndrome. There are concerns that secretin stimulation test (SST) can produce false positive results in the setting of proton pump inhibitor (PPI) use. However, withholding the PPI treatment in a patient with severe peptic ulcer disease can be potentially unsafe. There is also a theoretical concern that abrupt withdrawal of PPI will cause a surge in gastrin. Here we discuss a case where SST yielded impressive results despite the use of PPI.

Case report:

78 y.o. Caucasian male presented in December 2018 with chronic nausea, vomiting, diarrhea of 5-year duration. Further evaluation showed severe esophagitis with strictures, multiple gastric and duodenal ulcers and he was initiated on PPI. He also had h/o hyperparathyroidism diagnosed 2 years ago s/p parathyroidectomy (2 of 4 parathyroid glands removed) and one kidney stone in his late 20s and early 70s. He had no family history of any endocrine issues. Physical examination was unremarkable. Labs were significant for gastrin levels (nl <100 pg/mL) of 375 pg/mL in 6/2016 and 219 pg/mL in 11/2018. SST was performed on 12/22/2018 which showed gastrin levels as follows: -10 min=405 pg/mL, - 5 min=404 pg/mL, + 2 min=3201 pg/mL, + 5 min=3439 pg/m, +10 min=2445 pg/mL, +20 min=1218 pg/mL, +30 min=578 pg/mL. He was diagnosed with gastrinoma based on the SST results. Genetic testing did not show any pathogenic sequence variants or deletions/duplications identified in MEN-1; CASR; CDC73; CDKN1B or RET. Given history of hyperparathyroidism and gastrinoma, he was clinically diagnosed with MEN1 syndrome. Ga-68 DOTATATE scan in May 2019 revealed focal radiotracer avidity in the tail the pancreas suspicious for neuroendocrine tumor and multiple radiotracer avid retroperitoneal and abdominal lymph nodes. Focal radiotracer avid lesion was also noted in the sacrum suspicious for osseous metastatic disease. He was started on lantreotide monthly injections in July 2019. Gastrin level decreased to 94 pg/mL 1 week after first injection, however later increased to 304 pg/ml 1 week after third dose of lantreotide. Surgical options are also being explored.

Conclusion:

An increase in more than 120pg/mL over basal gastrin level within 10 min in SST is consistent with a diagnosis of gastrinoma. Our patient demonstrated an impressive increase in gastrin level with SST while on PPI therapy. Pertinent diagnostic information was successfully obtained without increasing the risk of complications that can occur by withdrawal of PPI therapy.
SUN-031 Megestrol Acetate for Bodybuilding Resulting in Abrupt Hypothalamic-Pituitary Dysfunction
Authors: Lessard Kimberly Kochersperger , Miller Jeffrey L , Arzeno Luis
Published: May 2020

Introduction: Megestrol acetate (MA) is a synthetic progestin often used for appetite stimulation and weight gain in patients with cachexia related to AIDS, cancer or terminal illness. MA is frequently implicated in development of both glucocorticoid excess and adrenal insufficiency (AI) in a somewhat unpredictable manner. Less commonly reported adverse effects of MA include dysfunction of the hypothalamic pituitary axis. Few cases in literature exist regarding the use of MA in young, healthy patients and the potential clinical severity of pituitary dysfunction in this population.

Case : A 24-year-old male was previously healthy but frustrated by an inability to gain muscle mass. Evaluation one-year prior was unrevealing and included a total testosterone of 1100ng/dL (264-916ng/dL). In the interim, he was prescribed MA 625/5mg for 2 months with rapid development of abdominal adiposity, depressed mood, low libido and erectile dysfunction. Repeat evaluation revealed a precipitous drop in total testosterone to 66 ng/dL at which point he self-discontinued MA. He then began to experience palpitations, sweats, poor concentration, and undesirable weight loss along with worsening symptoms of sexual and erectile dysfunction.

Three months after MA discontinuation, he appeared well with physical examination and vital signs within normal limits. Surprisingly, repeat studies revealed total testosterone <3, free testosterone <0.2 (9.3 -26.5 pg/mL), LH 1.3 (1.7-8.6 mIU/mL), FSH 2.2 (1.5-12.3 mIU/mL), Prolactin 33.4 (4.0-15.2 ng/mL) as well as 8AM cortisol 2.2 ug/dL and ACTH 22.7 pg/mL. A basic metabolic panel, thyroid function studies and pituitary MRI were unremarkable. The patient was empirically placed on prednisone 5mg daily pending ACTH stimulation testing for HPA axis reassessment. Topical testosterone replacement therapy was initiated due to intolerance of hypogonadal symptoms.

Discussion: MA, by virtue of affinity for glucocorticoid receptors, has the potential to cause hyperglycemia and Cushing’s syndrome. Secondary AI often results from withdrawal of MA however central AI can also occur with active administration by unclear mechanisms. Hypogonadism and hyperprolactinemia are additional under-reported adverse effects of MA with symptoms often masked by AI or elements of chronic illness. In study of men age 60-85 year on MA, a mean percentage change of ACTH -89.5%, LH -49%, TSH -14.7% and Prolactin +150% were seen from baseline after 12 weeks of therapy as was decreased cortisol. Limited data exists in young patients such as ours given limited indications for the agent’s use. Importantly, MA should be prescribed with understanding that weight gain is predominantly adipose rather than muscle mass and that its safety is limited by potential HP axis dysfunction, namely adrenal and gonadal deficiencies.
SUN-697 Importance of Immunosuppressive Therapy for Managing Insulin Resistance Type B
Authors: Amankwah Samuel , Silpasuvan Artit
Published: May 2020

Background: Autoimmune Antibodies against insulin receptors leading to refractory hyperglycemia is known as Type B insulin resistance. In addition to insulin management, immunosuppressive therapy appears to be an essential part for successful management. Clinical Case: A 20 year old African American woman with no significant past medical history presented to the Emergency Department with worsening nausea and vomiting for 5 days and shortness of breath. She admitted to polyuria, unintentional weight loss of 15 pounds in the last six months, decreased appetite, and hyper-pigmented rashes mostly on her back. The patient was not on any medications at home. No known drug allergies, no past surgical history. Family history was significant for Grandmother with Type 2 Diabetes Mellitus and Lupus on father’s side of family. The patient denied use of alcohol, tobacco, illicit and IV drug use. T: 37.2 °C, HR: 124, RR: 25, BP: 105/74, SpO2: 100%. Weight 45kg. Physical exam significant for Tachycardia but normal rhythm. Initial work up revealed new onset diabetes HbA1c 9.6% and massive pericardial effusion on echocardiogram s/p pericardiocentesis. Due to developing complaints of intermittent cyanosis of fingertips and intermittent joint pain of fingers, Rheumatology work up was ordered and positive for mixed connective tissue disease. Patient was treated with Cellcept 1500 mg BID, Plaquenil Sulfate 300 mg daily, and prednisone 12.5 mg BID. Hospital course was complicated due to hyperglycemia in 300s-400mg/dL requiring high amounts of insulin. Diabetes work up was negative for GAd-65 and islet cell antibodies. C-peptide was elevated at 16.1 ng/mL (0.8-3.1 ng/mL) and anti-Insulin an antibodies was 20uU/mL. Patient was euthyroid. Hyperglycemia persisted despite increasing doses of long and short acting insulin subcutaneously. The patient eventually required Insulin intravenously at 50 units/hour plus 50 units of short acting Insulin every 4 hours subcutaneously. The patient was transferred to a facility to begin Combined Immunosuppressive Therapy plus insulin to manage hyperglycemia due to insulin resistance. After six months of rituximab, high-dose pulsed steroids, cyclophosphamide, plus insulin therapy, glycemic index improved with HbA1c reduced to 5.6%. Conclusion: Combined Immunosuppressive Therapy in addition to insulin management of refractory hyperglycemia due to type B insulin resistance has been shown to not only be effective in controlling refractory hyperglycemia but preventing against recurrences as well. Reference: 1) Klubo-Gwiezdzinska J, Lange M, Cochran E, Semple RK, Gewert C, Brown RJ, Gorden P. Combined Immunosuppressive Therapy Induces Remission in Patients With Severe Type B Insulin Resistance: A Prospective Cohort Study. Diabetes Care. 2018 Nov;41(11):2353-2360.
SAT-466 Hashimoto’s Glomerulonephritis: A Reality or Just a Coincidence?
Authors: Gomez Noronha Andres Alberto , Sedó Isabel Pulgar
Published: May 2020

Background: Glomerulonephritis is a common health problem surrounding nephrologists, mainly characterized by nephrotic range proteinuria, low serum albumin level and edema. There are several causes such as infections, cancer or autoinmune disorders, like Hashimoto’s thyroiditis. This is a chronic inflammation of the thyroid gland caused by high serum thyroid autoantibodies leading to hypothyroidsm. In the last years, many authors worldwide have found an uncommon association between Hashimoto’s disease and nephrotic syndrome. This may be attributed to cross-reacting antigens, such as thyroglublin, that become deposited in the glomeruli. Clinical Case: A 40-year women was admitted to our hospital with typical symptoms of nephrotic syndrome. The patient has a history of hypothyroidsm two years ago, treated with levothyroxine 200 mcg. Initial tests were congruent with glomerular impairment: low serum albumin 2.8 g/dl (NR > 3.5 g/l), hypercholesterolemia 300 mg/dl, (NR <200 mg/dl) and nephrotic-range proteinuria (9g/24h). Viral infections such as HIV, hepatitis B and C, herpes virus and rubella were discarded. Moreover, autoantibodies such as ANA, ANCAc and ANCAp were studied with no contributory results. Tumor markers were also tested and a complete body CT scan was performed looking for some occult cancer, but nothing contributory was found. Thyroid hormones levels were out of range (TSH: 20.04 mIU/l, NR: 0.27-4.20 mIU/l; FT4: 5 pmol/L, NR: 12-22 pmol/L). ATPO and ATG were performed, which were positive and in several fold higher levels than expected. (ATPO: >600 U/ml, N<34 U/ml; ATG: 195 U/ml, N <115 U/ml)

During hospitalization a kidney biopsy was performed. The anatomic pathology report was compatible to membranous glomerulonephritis. Since there was no clear etiology of the nephrotic syndrome, we assumed that Hashimoto’s disease had an important role in this particular case, having already discarded the most common causes. We decided to optimized levothyroxine dose (from 200 mcg qd to 250 mcg qd) and ACE inhibitors (losartan 50 mg qd) were added to the therapeutic plan. During the follow up (one year later), we observed an improvement in thyroid hormone levels (TSH: 0.94 mIU/l, FT4: 14.17 pmol/L) and a decreased in proteinuria (3g/24h); however, ATPO and ATG levels persisted high (ATPO: >600. ATG: 170.6). No immunosuppressive therapy was used at all. Conclusion: This is the first case in our hospital demonstrating the possible association between Hashimoto’s disease and membranous glomerulonephritis. Santoro et al. strongly believe that there is a trully relationship connecting both entities, suggesting that similar imnunological abnormalities ought to be the key point in the pathogenesis of the two conditions. Reference: (1) Santoro, D., Vadalà, C., Siligato, R., Buemi, M., & Benvenga, S. Autoimmune thyroiditis and glomerulopathies. Frontiers in endocrinology, 8, 119. (2017)
SUN-010 Efficacy of High Intensity Intermittent Training for Improving Cardio-Metabolic Health in Women with Polycystic Ovary Syndrome: A Pilot Study
Authors: Patten Rhiannon Kate , McIlvenna Luke , Moreno-Asso Alba , Stepto Nigel Nigel , Hiam Danielle
Published: May 2020

Polycystic ovary syndrome (PCOS) is a common and complex endocrinopathy with reproductive and metabolic manifestations, carrying a major health and economic burden. Exercise training has consistently been found improve clinical outcomes in women with PCOS, but shortfalls with exercise prescription are evident. Research suggests that high intensity intermittent exercise (HIIT) is feasible, well tolerated and enjoyable for people with or at risk of chronic disease and can address many of the shortfalls and barriers to exercise participation. To investigate the effects of high intensity exercise, twenty-four reproductive aged, overweight and obese, previously sedentary women with PCOS were recruited from the community and randomised to complete either 12 weeks of moderate intensity continuous cycling exercise (MOD; 50-60% of maximal heart rate [HRmax]; n=11) or HIIT (90-95% HRmax; n=13). All exercise was supervised by an exercise physiologist and completed 3 times per week on a cycle ergometer. Baseline and post testing measures consisted of peak oxygen consumption (VO2peak) determine by a graded maximal exercise test, insulin sensitivity determined by hyperinsulinaemic-euglycaemic clamp, body composition outcomes and anti-mullerian hormone (AMH). Enjoyment was also measured throughout the intervention using feeling scales. Significant improvements were seen for VO2peak after HIIT with an average increase of 5.6 ± 2.5 mL.kg-1.min-1 (P=0.013) and non-significant increases in the MOD group (3.4 ± 2.1 mL/kg/min; P=0.20). Body composition, fasting insulin and AMH values remained unchanged in both groups. Non-significant improvements in glucose infusion rate (3.3 ± 2.8 mg.lbmkg-1.min-1; P=0.06) and insulin sensitivity index (M-to-I ratio; 3.0 ± 3.8 mg.lbmkg-1.min-1[mU/I]-1 x 100; P=0.17) were found as a result of HIIT compared to no changes after moderate intensity exercise. Importantly, HIIT was also found to be more enjoyable than moderate intensity continuous exercise. The present study is the first to compare current exercise recommendations of moderate and vigorous intensities in women with PCOS. The results of this study provide preliminary validation of HIIT and should be considered for improving cardio-metabolic health in women with PCOS.
SAT-181 Pheochromocytoma Masquerading as Acute Coronary Syndrome. To Cath or Not to Cath?
Authors: Khatri Krish , Haas Richard Allen
Published: May 2020

Background

Pheochromocytoma had been known as the “Great Mimic” as it can present with signs and symptoms consistent with numerous differentials [1]. Cardiac ischemia is one in particular which creates a diagnostic dilemma and poses significant risk for misdiagnosis.

Clinical Case

62-year-old female with recent onset hypertension and type II diabetes(HbA1C of 6.9%) presented to the ER with new episodes of nausea, vomiting, and substernal chest pain. During the preceding four months she also experienced episodic headaches, palpitations, and flushing.

Initial vital signs were significant for blood pressure 157/81 mm Hg. Physical exam was unremarkable. An Electrocardiogram showed normal sinus rhythm with right axis deviation and ST segment depressions in the inferior leads II, III and aVF.

Labs revealed a troponin peak at 2.95 (<0.04 ng/mL) and d-dimer of 403 (<400 ng/mL). Serum chemistry, TSH, and complete blood count were within normal limits. A CT Chest with angiography was negative for pulmonary emboli. However, it did note a heterogenous 7.6 cm right adrenal mass. At this juncture there was clinical concern for pheochromocytoma and serum free metanephrines was ordered.

Prior to receiving medical treatment for her pheochromocytoma, she underwent cardiac catheterization which showed no evidence of coronary artery disease. The procedure was uncomplicated. However, post-procedurally she did develop worsening paroxysms and severe hypertensive episodes with heart rate up to 140 beats per minute and systolic blood pressure up to 220 mm Hg. She was subsequently started on alpha blockage with phenoxybenzamine 10mg twice daily to which she responded favorably. Her initial serum free metanephrine was 6087(< 57 pg/mL) and free normetanephrine 2489 (<148 pg/mL).

Conclusions

This case highlights the importance of maintaining a high index of suspicion for pheochromocytoma for all patients with acute chest pain and hypertension. Her untreated pheochromocytoma could have been fatal during or immediately after the cardiac catheterization. Given the suspicion for pheochromocytoma in this case, it would have been most appropriate to have begun alpha blockade after blood was drawn for metanephrines and before attempting any invasive procedures. Pheochromocytoma should be included in the differential diagnosis of acute coronary syndrome because it can mimic an ischemic episode.

References:

1. Soltani A, Pourian M, Davani BM. Does this patient have Pheochromocytoma? a systematic review of clinical signs and symptoms. J Diabetes Metab Disord. 2016 Mar 17;15:6. doi: 10.1186/s40200-016-0226-x. Erratum in: J Diabetes Metab Disord. 2017 Oct 16;16:42. PMID: 26998444; PMCID: PMC4797176.
SAT-306 Muscarinic and Adrenergic Receptor Cooperativity in a Human Adrenocortical Carcinoma Cell Line
Authors: Malaiyandi Latha , Meyer Alice , Surachaicharn Nuntida , Pelchat Dominic , Gilchrist Annette , Kopf Phillip , Dineley Kirk
Published: May 2020

The role of autonomic receptors in the regulation of the adrenal cortex is poorly understood. We recently showed that activation of M3 muscarinic receptors stimulates intracellular calcium oscillations, aldosterone production, and expression of CYP11B2 (1). The present study explores the relationship between muscarinic and adrenergic receptors in corticosteroid production. Using live-cell fluorescence imaging of HAC15 adrenocortical cells with the calcium-sensitive probe Fluo-4, we have shown that stimulation of adrenergic receptors with the endogenous, non-selective adrenergic agonist norepinephrine (10μM) enhances intracellular Ca2+ oscillations caused by the cholinergic agonist carbachol (1μM). However, Ca2+ is not affected by norepinephrine alone. Adrenergic enhancement of carbachol-induced Ca2+ oscillations is blocked by the ⍺ adrenergic receptor antagonist phentolamine, but not by the β adrenergic receptor antagonist propanolol. Specifically, ⍺2 and β2 antagonists (such as yohimbine and butoxamine, respectively) significantly suppressed the norepinephrine effect, but ⍺1 and β1 antagonists (such as tamsulosin and metoprolol, respectively) had no effect. RT qPCR identified ⍺2A receptors as the most abundant adrenergic receptor in HAC15 cells. Saturation experiments using 3H-NMS and 3H-Rauwolscine confirmed the presence of muscarinic M2 and M3 receptors as well as ⍺2A receptors. Using competition radiolabeled binding assays we explored the cooperation between M2/M3 and ⍺2A adrenergic receptors. Our results suggest that autonomic regulation of intracellular Ca2+ depends on an interplay of M3 and ⍺2A receptors. Additional experiments will use ELISA methods to determine the functional impact of autonomic receptor cooperativity on steroid synthesis and secretion.

References: (1) Malaiyandi et al., Mol Cell Endocrinol. 2018 478: 1-9.
SAT-369 Parathyroid Microadenomas as a Cause of Normocalcemic Primary Hyperparathyroidism (PHPT) and a Surgical Challenge
Authors: Nguyen Tiffany , Coltrera Marc D , Chao Jing H
Published: May 2020

Background: Patients with normocalcemic primary hyperparathyroidism (PHPT) share similar risks of osteoporosis and nephrolithiasis with patients having hypercalcemic PHPT. The prevalence and natural history of normocalcemic PHPT is not well defined. Parathyroid microadenomas weighing < 100 mg may present as special clinical challenges in both the diagnosis and surgical resection.

Clinical Case: A 55-year-old woman presented for an evaluation of osteoporosis following a non-traumatic L1 compression fracture at the age of 50 years. Noting an initial serum calcium of 10 mg/dL, we diagnosed her with normocalcemic PHPT based on a concurrent parathyroid hormone (PTH) level of 112 pg/mL (12-88 pg/mL) and a lack of other causes for an elevated PTH, including a normal eGFR, serum 25-hydroxyvitamin D, 24-hour urine calcium, and autoantibodies for celiac disease. Initial dual-energy x-ray absorptiometry (DXA) scan from 2015 showed normal bone mineral density (BMD) and T-scores in the L-spine, total hip, and femoral neck. Neck imagings, including ultrasound, sestamibi scan, and 4D CT, failed to localize a parathyroid adenoma. In the absence of a target and indications for parathyroidectomy other than osteoporosis, she was treated with bisphosphonates. While her serum calcium remained normal (9.6-10.2 mg/dL) despite an elevated PTH level (92-116 pg/mL) over a two-year period, subsequent DXA scans showed a significant loss in BMD on the bisphosphonates, prompting a peripheral DXA scan, which revealed severe osteoporosis at the distal third of the forearm (BMD 0.450 g/cm2, T-score -3.7), consistent with PTH-associated bone resorption. Following a 4-gland exploration with removal of 2 parathyroid microadenomas (63 and 100 mg), intra- and post-operative PTH levels normalized. She now awaits a repeat DXA scan at 1 year after a successful parathyroidectomy.

Conclusion: Although many patients with normocalcemic PHPT may progress to develop hypercalcemia, some remain normocalcemic over an extended period. We report a patient who maintained normocalcemia for over 2 years. To correctly establish the diagnosis of normocalcemic PHPT, a comprehensive evaluation must be performed to exclude secondary causes of an elevated PTH (renal insufficiency, hypovitaminosis D, hypercalciuria, and malabsorption). Since significant osteoporosis may be preferentially seen in the cortical bone, BMD at the distal 1/3 of forearm should be evaluated in addition to the L-spine, hips and femoral necks. When a parathyroid adenoma cannot be localized in patients with normocalcemic PHPT, a careful 4-gland exploration for parathyroid microadenoma(s), paying special attention to the size, texture, and shape of the glands, and guided by intraoperative PTH levels, ensures the successful removal of the culprit gland(s).
SAT-565 Familial Homozygous Lipoprotein Lipase Defect Presenting with Recurrent Chylomicronemia Syndrome: Making a Case for Elective Plasmapheresis as an Adjuvant Treatment Modality
Authors: Shaka Hafeez , Edigin Ehizogie , Yap Sara Elizabeth , Asemota Iriagbonse
Published: May 2020

Background

The chylomicronemia syndrome is a disorder characterized by severe hypertriglyceridemia and fasting chylomicronemia. Type Ia hyperlipoproteinemia is an extremely rare genetic disorder that results from homozygous deficiency in LPL activity. It is characterized by eruptive xanthomas, lipemia retinalis, memory disturbances, hepatosplenomegaly and frequent episodes of pancreatitis. Pharmacologic agents including fibrates, fish oils and statins have been used for treatment. Patients who fail pharmacologic therapy are usually treated with plasmapheresis. This case showed a patient in which joint decision making led to elective plasmapheresis to avoid chylomicronemia syndrome as an adjunct to medical therapy.

Clinical case

A 35-year-old lady without known medical co-morbidity presented with 2 weeks of dull abdominal pain radiating to the back. She developed nausea and vomiting which led to her presentation. There was no history of alcohol use, gall stones, diabetes mellitus or thyroid dysfunction. She was not on any medications. Physical examination was significant for BMI of 18, moderate abdominal tenderness, splenomegaly and an indurated rash in her legs. Laboratory investigation showed elevated lipase and triglyceride level of 3313 (normal 30-50) mg/dL. CT of the abdomen was consistent with acute interstitial pancreatitis. She was managed with insulin drip and fenofibrate and discharged 3 days later on fenofibrate, atorvastatin and long acting insulin. She developed another episode of acute pancreatitis while on medical therapy requiring readmission and initiation of insulin drip 2 months later. However, triglycerides trended upwards when the drip was stopped and symptoms of acute pancreatitis worsened. She subsequently underwent plasmapheresis which led to resolution of symptoms. Despite maximally tolerated pharmacologic therapy, she persistently has triglycerides above 4000s and persistent abdominal discomfort. Genetic testing confirmed homozygous defect in LPL gene. Following an outpatient Endocrinology visit, a decision was made to pursue elective plasmapheresis as an adjunct to therapy. She had on average 2 sessions monthly for 3 months with overall improvement in abdominal discomfort as well as significant improvement in triglyceride levels.

Conclusion

Familial chylomicronemia syndromes often require multimodal therapeutic approaches to prevent morbidity and complications. These include diet and pharmacologic therapy. Although plasmapheresis is often used during hospitalizations for hypertriglyceridemia induced pancreatitis refractory to diet and pharmacologic therapy, it was used in our patient electively and efficaciously to control hypertriglyceridemia and improve symptoms of chylomicronemia syndrome.
SUN-596 A Rare Presentation of Early Onset Wernicke Encephalopathy Following Sleeve Gastrectomy
Authors: Gilreath Nathan , Kant Ravi , Antony Mc Anto , Verma Vipin
Published: May 2020

Background: Wernicke encephalopathy (WE) has been reported after malabsorptive bariatric surgeries but is an uncommon complication of sleeve gastrectomy. Since 2011, the number of patients receiving a sleeve gastrectomy has tripled, with almost 60% of patients undergoing bariatric surgery receiving a sleeve gastrectomy in 2017 (1). We present a case of WE in a young woman as a rare and early complication of sleeve gastrectomy.

Clinical Case: A 32-year old female with a past medical history significant for hypertension, pseudotumor cerebri, and morbid obesity status post sleeve gastrectomy two months prior presented to the emergency department with complaints of blurry vision and lower extremity numbness. Physical examination showed sluggish light reflex and decreased extraocular movements. Given history of pseudotumor cerebri, patient underwent a therapeutic lumbar puncture with removal of 13 ml of CSF. Opening pressure was 20 cm of water and patient experienced no relief of her symptoms. Ophthalmology consult did not offer an explanation for the blurry vision. MRI-brain with and without contrast showed findings highly suggestive of WE. It showed faint linear symmetric hyperintensities along the bilateral mesial thalamus, dorsal midbrain and periaqueductal gray matter, which were determined to be acute in nature in comparison with a MRI performed three weeks prior. Upon further investigation, thiamine level was low at 43.6 nmol/L [66.5 – 200] confirming the diagnosis of WE. Thiamine supplementation was started immediately and patient reported improvement of her vision the next day with return to baseline in 3 days.

Conclusion: There have been a handful of cases of WE reported in literature as a complication of sleeve gastrectomy. Zheng, L also reported a case of WE 7 weeks after sleeve gastrectomy (2). Although sleeve gastrectomy does not directly affect the primary absorptive pathway of thiamine in the gastrointestinal tract, it is imperative to consider WE in patients presenting with suspicious neurologic symptoms after a recent sleeve gastrectomy. WE was suspected in our case due to typical MRI findings and neurological presentation after bariatric surgery, which was later confirmed by low serum thiamine level. Early detection and thiamine supplementation resulted in complete reversal of symptoms in our patient. WE is a rare but severe and preventable consequence of bariatric surgery that warrants attention given its rapid onset and detrimental course.

Reference: (1) Estimate of Bariatric Surgery Numbers, 2011-2017. (2018, June 26). Retrieved from https://asmbs.org/resources/estimate-of-bariatric-surgery-numbers. (2) Zheng, L. (2016).

Wernicke Encephalopathy and Sleeve Gastrectomy. American Journal of Therapeutics, 23(6).
SAT-192 Eletriptan (RelpaxaTm) Causing False Positive Elevations in Urinary Metanephrine
Authors: Bloomer Zachary , Priti Nath , Hoang Thanh Duc , Shakir Mohamed K M
Published: May 2020

Background:

The diagnosis of pheochromocytoma depends crucially on the demonstration of excessive production of catecholamines. This step, however, is fraught with several difficulties, in particular with false-positive test results. Drugs such as phenoxybenzamine and tricyclic antidepressants are the most frequently associated causes for false-positive results. Other medications are also known to cause a false positive elevation of urinary metanephrines. We are reporting a patient with markedly elevated urine metanephrines associated with the use of Eletriptan hydrobromide (RelpaxaTM), a drug commonly used for treating migraine.

Clinical Case:

A 29-year-old man with a history of migraine managed on ibuprofen and recently started Eletriptan presented to the emergency room complaining of a 24-hour history of progressively worsening headaches. At the time of initial evaluation his blood pressure was in the 220s/160s with a creatinine of 1.9 mg/dL with unknown baseline. He was managed on an IV nicardipine drip. Due to his young age he underwent an evaluation for secondary causes of his hypertension. Laboratory: normal aldosterone/renin level (ratio was 0.4), normal midnight salivary cortisol and normal thyroid function studies. Urine screening for drug abuse was also negative. A 24-hour urine metanephrine level, while the patient was taking Eletriptan, was markedly elevated (normetanephrine 1341mcg (ref 82–500) and metanephrine level of 2494 mcg (ref 45–290). In contrast, the plasma metanephrines were only mildly elevated (metanephrines level 27 pg/ml (ref 0–62) and normetanephrine level of 255 pg/ml (ref 0–145)). Adrenal CT did not reveal any evidence of adrenal nodules. Additionally a Gallium-68 PET/CT scan did not reveal any evidence of pheochromocytoma or paraganglioma. Eletriptan was discontinued and his blood pressure was controlled on oral medications. Within one week of stopping Eletriptan his urine metanephrines (metanephrine 76 mcg/ 24 hrs, normetanephrine 277 mcg/dL) and plasma metanephrines (metanephrine 39 pg/mL, normetanephrine 148 pg/mL) normalized.

Conclusion: The discrepancy between plasma and urine metanephrines in our patient suggests the possibility of a false positive test. Eletriptan, a second generation triptan drug, is a selective 5-hydroxytryptamine 1B/1D receptor agonist and has been shown to reduce carotid arterial blood flow, with only a small increase in arterial blood pressure at high doses. However, Eletriptan has no significant affinity or pharmacological activity at adrenergic α1, α2, or β; dopaminergic D1 or D2; muscarinic; or opioid receptors. It is also interesting to note that Eletriptan use is contraindicated in uncontrolled hypertension. It is possible Eletriptan may affect the assay of urine metanephrines. However, the exact mechanism of Eletriptan causing elevated urine metanephrines in our patient is not clear.
SUN-210 Differentially Expressed Mirnas in Zona Reticularis (ZR) Cells of the Human Adrenal Cortex
Authors: Garcia Francisco , Colman Diego , Zoff Luciana , Saraco Nora Isabel , Belgorosky Alicia , Baquedano Maria Sonia
Published: May 2020

The human adrenal cortex, involved in adaptive responses to stress, fluid homeostasis, and secondary sexual characteristics, arises from a tightly regulated development of a zone and cell type-specific secretory pattern. However, the molecular mechanisms governing adrenal zonation, particularly postnatal ZR development, which produces adrenal androgens in a life-time-specific manner, remain poorly understood. The hallmark of ZR is the low expression of type 2 3β-hydroxysteroid dehydrogenase (HSD3B2). However, the mechanisms underlying HSD3B2 downregulation in the ZR remain unknown. MiRNAs are seen as regulators of cell phenotypes. The objective of the study was to compare miRNA expression profiles in human adrenal ZR and zona fasciculata (ZF). ZF and ZR were microdissected from human adrenals tissues (n=5, from boys aged 16, 17 and 19 yr and girls aged 12 and 16 yr) by laser capture microdissection (LCM). Total RNA was extracted from 5 ZF/ZR pairs and next-generation sequencing (NGS) was used to perform the microRNA expression profiling. 281 mature microRNAs were identified in human adrenal cortex. Among them, 7 microRNAs were significantly differentially expressed between ZF and ZR. The expression of miR-375-3p, miR-483-3p and miR-7-5p was higher in ZR compared with its paired ZF by 2-fold or greater. Multiple available bioinformatic algorithms (TargetScan, miRanda, DianaLab and PicTar) were employed to search for its target genes. Among predicted target genes, several genes (GATA-6, GATA-4, SF1, NR4A2, and IGF-1) are known to be involved in HSD3B2 regulation. In summary, LCM combined with NGS provided a robust approach to explore the adrenal zone-specific micro-RNA profiling. Our data gave first hints that miRNAs might be novel regulatory modules associated with human adrenal ZR cell-specific transcript regulation underlying developmental androgen production.
SUN-543 Real World Evidence of Successful Weight Management for the Obese Population: Complete Reversal of Obesity Related Metabolic Co-Morbidities and Weight Loss in Patients Attending a Multidisciplinary Weight Management Clinic in Australia
Authors: Rock Zoe , Chen Juliana , Jaques Joanna , Champion Bernard L , Lord Reginald V , Preda Veronica Angela
Published: May 2020

Over 2.5 billion people worldwide are overweight or obese. Multidisciplinary weight management interventions have evolved to address the complexity of weight loss for those with one or more chronic diseases, and the trend of weight regain. The aim of these interventions is to encourage sustainable lifestyle changes, resulting in weight loss and weight maintenance and improvements in comorbidities. While some prospective clinical trials have demonstrated efficacy, results are often not reported by real life practices.

The aim of this study was to evaluate the effectiveness of a Sydney based multidisciplinary weight management clinic with endocrinology, dietetics, exercise physiology, psychology, and bariatric surgical domains. All patients who attended the clinic for weight loss purposes between March 2017 and April 2019 were included (n=220). A retrospective chart review was conducted. Patient data on weight, BMI, waist circumference, body composition measurements, and selected blood test results and co-morbidities were analysed. All patient therapy included endocrinological input for co-morbidity identification and management, lifestyle intervention (dietetic and exercise physiology input) with optional adjunct pharmacotherapy or psychological counselling. Of the 220 cohort, 20 of the patients had sleeve gastrectomy.

Patient retention in the clinic after the first consultation was 85% (n=186), a high rate within the weight management community. 59% of patients achieved a minimum of 5% total body weight loss, including 18% who achieved greater than 10% total body weight loss. Additionally, 31% of patients lost enough weight to decrease their BMI class by up to 2 or more classes. Of the gastric sleeve cohort average excess body weight loss was 32kg (21-56kg) enhanced by multidisciplinary care in the lead up to surgery. Across the cohort some patients completely reversed co-morbidities; including dyslipidaemia (n=1), hypertension (n=3), NAFLD (n=1), pre-diabetes (n=8) and type 2 diabetes (n=3), OSA (n=1). These results demonstrate that obesity is a chronic condition that can be successfully managed. We have demonstrated significant durable weight loss and improvement in metabolic co-morbidities with holistic coordinated care. Future directions include translating this model of care into standard practice in Australia and other countries where obesity to date not received the same coordinated approach as other chronic conditions.