bluuebunny/crossref_metadata_2025_split huggingface dataset:
MON-LB66 Altered Mental Status and Hypercalcemia: A Rare Presentation of Pure Osteolytic Metastatic Prostate Cancer
Authors: Kulkarni Ajinkya , Kulkarni Mrunal , Ellangovan Rithikaa , Thirumaran Rajesh 
Published: May 2020

Abstract
Background: We present a rare case of hypercalcemia with the concomitant presence of parathyroid adenoma, secondary hyperparathyroidism due to kidney disease and hypercalcemia of malignancy. Mild hypercalcemia due to primary hyperparathyroidism often precedes the acute, more severe hypercalcemia of malignancy. Prostate cancers are usually known to cause osteoblastic lesions. We present a rare case of prostate cancer with pure osteolytic metastasis.
Case: 73 year old male with past history of ESRD on hemodialysis was brought to the ER with change in mental status. Labs showed elevated serum calcium 13.3 mg/dl (8.6-10.2 mg/dl) and creatinine 7.0 mg/dl (0.60-1.30mg/dl). Patient underwent emergent hemodialysis. Additional lab work revealed, elevated phosphorus level of 5.8mg/dl (2.5-5 mg/dl), low vitamin D 25-hydroxy of 22 ng/ml (30-100 ng/ml) and vitamin 1-25 dihydroxy level of 7 ng/ml (20-79 ng/ml). Both PTH 172.6 pg/ml (12-88 pg/ml) and PTHrP 64 pg/ml (14-27 pg/dl) levels were elevated. Parathyroid scan showed increased uptake in left inferior parathyroid gland indicating the presence of a parathyroid adenoma. Serum calcium levels remained persistently elevated despite being continued on dialysis with a low calcium bath and receiving calcium lowering therapy with calcium binding agent- cinacalcet, calcitonin, bisphosphonate. Further work up for refractory hypercalcemia revealed an elevated prostate-specific antigen (PSA) level of 1420 ng/ml (0-3.999 ng/ml). Bone scan showed no evidence of osseous metastasis. CT abdomen & pelvis showed extensive lytic bony metastases, with metastasis to lung and lymph nodes in mesenteric root and in the pelvis. Prostate gland showed asymmetric contour along the left posterolateral zone suspicious for malignancy with extracapsular spread.Biopsy from the left iliac lytic bone lesion was done that showed poorly differentiated metastatic adenocarcinoma, consistent with a prostatic primary. The patient was started on treatment with anti-androgen medication- Bicalutamide and prednisone and was planned to be started on Leuprolide as outpatient.
Discussion: Hypercalcemia is uncommon in advanced prostate cancer compared to other malignancies where osteolytic metastasis is more common than osteoblastic metastasis. Incidence of malignancy in patients with primary hyperparathyroidism and vice-versa is high, hence serum PTH and PTHrP should be measured in hypercalcemic patients with malignancy. If PTHrP and PTH are both elevated, it indicates co-existent primary hyperparathyroidism. Prostate cancers are usually known to cause osteoblastic lesions and pure osteolytic metastasis from prostate carcinoma is extremely rare. Radio-nucleotide bone scan preferentially detects osteoblastic metastasis. CT or MRI is indicated to look for osteolytic lesions if suspicion for bone metastasis is high.
SAT-LB81 Carbohydrate Crash: A Rare Case of Thyrotoxic Periodic Paralysis
Authors: Sittol Rani , Allen Juliann , Lofters Jason , Ran-Castillo Dan , Williams Karlene 
Published: May 2020

Abstract
IntroductionThyrotoxic Hypokalemic Periodic Paralysis (TPP) is an uncommon diagnosis in the western world and may be the initial presentation of hyperthyroidism. CaseA healthy 37 year old Asian male was visiting the US when he had sudden onset lower limb weakness after carbohydrate rich meal on Saturday night. He reported hand tremors for 1 month and a 10kg weight loss. On examination he was anxious with a fine hand tremor, BP 158/80mmHg, and HR 106bpm. He had grade 2/5 power to lower limb proximal muscles and brisk reflexes. Thyroid and eyes were normal. Laboratory results significant for potassium (K) 3.2mmol/l, TSH 0.005 (0.270-4.4uiu/ml), FT4 2.6 (0.8-2.2ng/dl), FT3 12.4 (2.77-5.27 pg/ml) and TSH Receptor antibody was 23.9% (&lt;16%). Thoracolumbar MRI was normal. Repletion of K resulted in total resolution of paresis. He was given propranolol and methimazole and chose to complete workup in China.Clinical LessonTPP results in paralysis due to hypokalemia and hyperthyroidism and can be the initial presentation of hyperthyroidism. It is most common in Asian males 20-40 years with incidence 1.9%, but only 0.2% in the west. Proximal muscles are affected more. Attacks may be precipitated by carbohydrate load, rest after exercise, or stress. Patients tend to present on weekends between 2100-0900hrs. It is hypothesized that K metabolism is diurnal, with influx to muscle at night or at rest. Once euthyroid, TPP will not recur unlike familial hypokalemic periodic paralysis which is recurrent and of earlier onset. The underlying reason remains unclear. It may be related to the action of thyroxine on Na/K-ATPase pump. TPP is usually associated with Graves’ disease, but other causes of hyperthyroidism have been reported. TPP is a treatable rare illness in Asians, and very uncommon in the West. Physicians must be aware of its subtleties, as it may be confused with other more common conditions.ReferencesChang-Hsun Hsieh, Shi-Wen Kuo, Dee Pei, Yi-Jen Hung, Sandra Chyi-Fan, Ling-I Wu, Chih-Tsueng He, Tsao-Chin Yang, Wei-Cheng Lian, and Chien-Hsing Lee, Thyrotoxic periodic paralysis: an overview, Ann Saudi Med. 2004 Nov-Dec; 24(6): 418-422. doi:10.5144/0256-4947.2004.418Annie W. C. Kung, CLINICAL REVIEW: Thyrotoxic Periodic Paralysis: A Diagnostic Challenge, The Journal of Clinical Endocrinology and Metabolism 91(7):2490-2495, Copyright © 2006 by The Endocrine Society doi: 10.1210/jc.2006-0356
SUN-LB70 Bone Mineral Density, Vitamin D Status and Bone Turnover Markers in Thai Youth With Graves’ Disease: A Pilot Study
Authors: Wiromrat Pattara , Panamonta Ouyporn 
Published: May 2020

Abstract
Background: Several studies in adults and limited studies in youth have demonstrated decreased bone mineral density (BMD) and increased bone turnover in people with Graves’ disease (GD) with hyperthyroidism state. These negative impacts on bone loss can be reversed, in some extent, after normalizing of thyroid hormone. Low 25(OH)D was also prevalent in adults with GD that may worsen bone health. However, there has been no study evaluating 25(OH)D and its associations with BMD and markers of bone turnover in youth with GD. Objective: To evaluate BMD, bone turnover markers and 25(OH)D concentrations and the associations among these measures in youth with GD with varying thyroid status. Methods: Thirty participants with GD [age range 8-20 years; female 75%; mean BMI %tile 61±29 kg/m2, median Tanner stage 4 (3, 5)] were included in the study. Seventeen (57%) participants underwent radioactive iodine ablation. Twelve, seven and three participants had hyperthyroidism, euthyroidism/subclinical hypothyroidism and overt hypothyroidism, respectively. Participants were grouped according to free triiodothyronine [FT3] tertiles [low 2.3±0.8; medium 3.5±0.4; high 10.9±0.9 pg/ml]. Lumbar [L-BMD] and total body headless BMD [TBHL-BMD] were measured with Hologic Discovery A densitometry and compared with reference value (BMD z-score, BMDz). Morning serum concentrations of osteocalcin [OC], procollagen type 1 N-terminal propeptide [PINP], β-crosslaps [β-CTX] and 25(OH)D were also analyzed. Results: Mean L-BMDz and TBHL-BMDz in youth with GD were 0.256±1.064 and 0.011±0.898, respectively. Osteopenia was found in only one participant [L-BMDz -1.6 and TBLH-BMDz -1.2] who had thyrotoxicosis. L-BMDz (p=0.713) and TBLH-BMDz (p=0.91) were not significantly different between FT3 tertiles. There were no significant differences in OC [p=0.481], PINP [p=0.37], β-CTX [p=0.71] and 25(OH)D [p=0.91], adjusting for age, sex and BMI %tile, between FT3 tertiles. There were no significant associations among FT3, OC, PINP, β-CTX and BMDz. However, FT3 was negatively correlated with 25(OH)D [r=-0.574, p=0.032]. Participants with GD had mean 25(OH)D of 21.5±5.1 ng/ml. Twenty-nine out of 30 participants (97%) had 25(OH)D concentrations &lt 30 ng/ml. Of these, 11 participants (38%) had 25(OH)D &lt 20 ng/ml. Further, 25(OH)D was associated with L-BMDz [β (95%CI): 0.284 (0.091-0.477), p=0.013] and β-CTX [β (95%CI): 0.078 (0.020-0.136), p=0.011], independent of age, sex and BMI%tile. Conclusions: Vitamin D insufficiency/deficiency is prevalent in Thai youth with GD. Moreover, 25(OH)D concentrations, but not thyroid hormone, is independently associated with spine BMD and bone turnover. Therefore, evaluation and prompt treatment of vitamin D insufficiency/deficiency in pediatric GD are needed to prevent negative skeletal consequences.
SUN-197 Giant Adrenal Myelolipoma Associated with Prolonged ACTH Elevation in a Patient with Congenital Adrenal Hyperplasia (CAH)
Authors: Kaluarachchi Vidumini , Arshad Muhammad Fahad , Balasubramanian Sabapathy , Lim Chern Beverly Brenda , Bull Matthew , Ross Richard John M 
Published: May 2020

Abstract
Background: Myelolipomas are rare benign tumours which consist of adipose tissue and mature hematopoietic tissue. The incidence ranges from 0.08 to 0.4% and they constitute 15% of adrenal incidentalomas. We report the case of a massive adrenal myelolipoma in a patient with CAH. Clinical Case: A 51year old man with salt losing CAH due to 21 hydroxylase deficiency presented to the emergency department with abdominal pain. CT scan of the abdomen revealed a 15 x 16 x 19cm mass in the left adrenal gland. There were concerns about malignancy, however expert radiology review diagnosed a massive adrenal myelolipoma. The patient was diagnosed to have salt losing CAH during infancy and managed with cortisone acetate and fludrocortisone during childhood, then dexamethasone 0.5mg nocte, 0,25mg mane as an adult. At 27 years he was reviewed and found to be Cushingoid with abdominal striae, obesity and hypertension. A CT scan of the abdomen done at that time showed a normal left adrenal gland with nodular right adrenal gland. While he was on dexamethasone, his 17-OHP was 14 nmol/l (NR: 0–6.0 nmol/l). His dexamethasone was reduced, then he was transferred on to prednisolone and then to hydrocortisone. 17-OHP level and ACTH levels have risen with each change in medication. At the time of referral with abdominal pain, he was on hydrocortisone 10 mg mane, 10 mg midday and 5mg at 1700h and his biochemistry showed: ACTH 486ng/l (NR 7.2–63.3), 17-OHP 101.1nmol/l (0–6.0nmol/l), renin 5.5 nmol/l/hr (NR 0.2–3.3) and androstenedione 26.6 nmol/l (NR 0–7.8). He underwent laparoscopic hand-assisted left adrenalectomy with the removal of a 2030 gram adrenal myelolipoma. He made an uneventful recovery with remarkable clinical improvement in general wellbeing. Histology confirmed adrenal myelolipoma. Conclusion: Chronic exposure to high ACTH levels causes metaplasia of adrenocortical cells, but a direct causal relationship for myelolipomas is not established. The role of ACTH in development of myelolipomas is supported by the increased incidence in patients with Addison’s disease, Nelson’s syndrome and ACTH dependent Cushing Disease. Our case supports the role of ACTH as the myelipoma developed after the reduction of patient’s glucocorticoid treatment and ACTH levels were high for years. Myelolipomas are usually asymptomatic but can present with abdominal pain, spontaneous rupture, and spontaneous retroperitoneal haemorrhage. There are no set guidelines but for large and rapidly growing tumours, surgery may be considered..
SAT-LB17 Triplication of SHOX Downstream Region in Mild Short Stature
Authors: Bunyan David J , Gevers Evelien F 
Published: May 2020

Abstract
Deletions of the downstream flanking regions of the SHOX gene that contain conserved non-coding cis-regulatory DNA elements are a known cause of Leri-Weill dyschondrosteosis or idiopathic short stature (ISS). Functional and comparative genomic studies have demonstrated the existence of four CNE enhancers downstream of SHOX which have transcriptional activity, and a fifth has recently been suggested at approximately X:970,000. Duplications of these downstream regions have also been described in patients with ISS, although with a variable phenotype. We present a family with ISS and the first ever reported SHOX downstream triplication. The index case was a 12-year-old Caucasian female of unrelated parents, born with normal weight and length, and normal hearing/vision and development. At the age of 12, her height was -1.87 SD (-1.35 SD adjusted for parental height). Her growth chart showed a height on the 90th centile at birth, slowly crossing centiles for the first 5 years to the 2nd centile, which she then followed. She had normal proportions and head circumference, and no dysmorphic features apart from inverted nipples. Baseline investigations for short stature were normal, including IGF1, karyotype and celiac screen. Bone age was 1.5 year delayed. Family history: arthritis in the father, early menopause in the mother. Analysis of SHOX and its flanking regions was carried out using Multiplex Ligation-dependent Probe Amplification (MLPA) and direct sequencing of all coding exons. MLPA analysis showed a SHOX downstream triplication with a minimum size of 66kb (X:963670-1029779) and a maximum size of 428kb (X:899389-1327688). The size of the duplication was further defined using array comparative genome hybridization (ACGH) analysis which showed the minimum size to be ~325kb (X:907457-1232802). This triplication includes the proposed regulatory element at ~ X:970,000. The triplication was subsequently shown to be present in the proband’s mother and brother who also have mild ISS. Further analysis of these and other family members is ongoing. The triplication is of a single-sized fragment, and the fragment size is identical to one that has been seen in duplicated form in several other patients, increasing the likelihood that the triplicated fragments are in tandem. The precise mechanism of the pathogenic effect of the triplication is unknown, but it likely exerts a negative effect on SHOXtranscription, reducing its expression and ultimately resulting in SHOX haploinsufficiency. In conclusion, we describe a family with mild ISS and a downstream triplication of the proposed X:970,000 SHOX downstream regulatory element. This provides further evidence for this previously proposed regulatory element downstream of SHOX and adds additional proof that increased dosage of this regulatory element region is a cause of short stature.
SUN-LB74 Radiofrequency Echographic Multi-Spectrometry (REMS) for the Assessment of Bone Strength and Fracture Risk Prediction
Authors: Ciardo Delia , Conversano Francesco , Pisani Paola , Casciaro Sergio 
Published: May 2020

Abstract
Introduction Fragility bone fractures impact patient’s quality of life and worldwide healthcare systems: accurate technologies and device are required in order to early diagnose and monitor the effect of osteoporosis on a mass-population basis. Several studied have analysed the pros and cons of the numerous technologies available nowadays for the diagnosis and monitoring of bone health, highlighting the need of further tools able to better define and estimate bone strength and to predict the risk of fracture [1].
Objectives The aim is to assess the state of the art about Radiofrequency Echographic Multi-Spectrometry (REMS).
Methods A review of the available literature was performed, considering full papers, reviews and abstracts on REMS published before January 31th 2020.
Results REMS has been recently presented by an ESCEO consensus paper as a valuable technology for osteoporosis diagnosis and fracture risk estimation [1]. It is based on the automatic processing of the raw unfiltered signals obtained with an ultrasound scan, thus overcoming the main drawback of dual-energy X-ray absorptiometry (DXA) and computed tomography (CT)-based technologies [2]. Moreover, REMS scans are performed at axial skeleton reference sites, i.e. lumbar spine [3] and femoral neck [4], differently from quantitative ultrasound (QUS) technology, which is usually applied to peripheral sites [3]. Clinical performance has been confirmed by a multicentre clinical trial enrolling over 1900 Caucasian women, demonstrating a high correlation between bone mineral density (BMD) estimated by REMS and DXA. In addition, high performance in terms of precision and intra- and inter-operator repeatability of REMS have been assessed [6]. Prospective studies have demonstrated the predictive ability of incident fragility fractures [7] and the high concordance with DXA in terms of measured BMD in patients with rheumatoid arthritis and pre/post-menopause [8, 9].
Conclusions REMS is an innovative approach for the early diagnosis, short-term monitoring of osteoporosis and risk fracture prediction. The available data envisaged for further applications in paediatric patients, pregnant women and patients at risk of secondary osteoporosis (e.g., diabetic, nephropathic, oncological patients). The EchoS system, a device implementing the REMS technology, has recently received the approval from the U.S. Food and Drug Administration (FDA).
References 1. Diez-Perez et al. Aging Clin Exp Res 2019;31(10):1375–89 2. Iwaszkiewicz & Leszczyński. Forum Reumatol 2019;5(2):81–8 3. Hans & Baim. J Clin Densitom 2017;20(3):322-3 4. Conversano et al. Ultrasound Med Biol 2015;41:281–300 5. Casciaro et al. Ultrasound Med Biol 2016;42:1337–56 6. Di Paola et al. Osteoporos Int 2018;30:391–402 7. Adami et al. Ann Rheum Dis, vol.78, supp.2, 2019, p.A928 8. Bojincă et al. Exp Ther Med 2019;18(3):1661-68 9. Kirilova et al. Clin Cases Miner Bone Metab 2019; 16(1):14-17
MON-LB124 Euglycemic Diabetic Ketoacidosis on Initiation of Ertugliflozin in a Patient With Type 2 Diabetes Mellitus Precipitated by a Ketogenic Diet
Authors: Richstein Ryan , Palmeiro Christopher 
Published: May 2020

Abstract
Background: Diabetic ketoacidosis (DKA) is defined by metabolic acidosis, ketosis and hyperglycemia. It is considered to be a consequence of significant insulin deficiency and/or insulin resistance and is usually precipitated by the presence of hyperglucagonemia or other counterregulatory hormones. In patients on oral sodium-glucose cotransporter 2 (SGLT2) inhibitors, decreased carbohydrate availability through renal glucose excretion can cause serum glucose levels to be lower than what is normally seen (&lt; 200 mg/dL) in DKA cases, masking the diagnosis. This phenomenon is termed euglycemic DKA (EuDKA). Existing evidence suggests that EuDKA in the setting of SGLT2 inhibitor use is rare and occurs mostly in patients with type I diabetes mellitus (T1D) and seldom in type 2 diabetes mellitus (T2D). Most published reports of EuDKA in patients with T2D describe patients on SGLT2 inhibitors with clear inciting events such as decreased insulin doses, surgery, or severe acute illness. To our knowledge, none have reported EuDKA precipitated by ertugliflozin. This is also the first report of EuDKA of a patient in the United States with T2D initiating SGLT-2 inhibitor use while on a low carbohydrate diet. Clinical Case: A 53-year-old female with a history of poorly controlled T2D was admitted to the hospital with EuDKA within seven days of starting ertugliflozin and alogliptin. Patient admitted to strict adherence to a low-carbohydrate diet for one week prior to admission. On admission, the patient was afebrile. Initial labs showed blood glucose 104 mg/dL, serum bicarbonate 8 mmol/L, anion gap 22, pH 7.100, beta-hydroxybutyrate 66.94 ng/mL (0.20-2.81), and a hemoglobin A1c of 11.2%. Urinalysis revealed glucosuria ≥500 mg/dL, ketonuria 80 mg/dL, hyaline cast 20/lpf, no nitrites or leukocyte esterase, WBC 1/hpf. Flu PCR negative. WBC count was 17.4 x10e3/uL initially, though all CBC cell lines decreased with fluid administration. CXR was negative for acute pulmonary disease. All oral T2D agents were held and our patient was initiated on a DKA protocol based on ADA guidelines. Her EuDKA subsequently resolved with successful transition to a weight-based basal-bolus insulin regimen. Conclusions: There are no published case reports identifying patients with T2D developing euglycemic DKA precipitated only by a low carbohydrate diet and ertugliflozin initiation. We hypothesize that our patient’s ketogenic diet lowered the threshold for a euglycemic ketoacid crisis resulting directly from the new addition of the SGLT2 inhibitor in the setting of pre-existing glucose toxicity. In patients considering, starting and being maintained on ertugliflozin or other SGLT2 inhibitors, the importance of effective, early and frequent dietary counseling with close follow-up cannot be overstated. Further, this report of EuDKA in a patient starting ertugliflozin supports that EuDKA is an SGLT2 inhibitor class risk.
SUN-LB4 Androgenic Profiles of Patients With Severe Insulin Resistance
Authors: Jha Smita , Turcu Adina , Brookner Brittany , Abel Brent Samuel , Startzell Megan , Auchus Richard Joseph , Brown Rebecca J , Merke Deborah P 
Published: May 2020

Abstract
Background Patients with severe insulin resistance have ovarian hyperthecosis, high testosterone (T) and minimal adipose tissue. Recent studies have found elevated levels of 11-oxygenated (11-oxy) androgens in women with polycystic ovary syndrome (PCOS) compared to age and sex-matched controls. 11-oxy-androgens are produced by CYP11B1, an enzyme expressed predominantly in the adrenal, with minor ovarian expression. We analyzed 11-oxy-androgens in women with severe insulin resistance. Methods We performed retrospective analysis of women with severe insulin resistance (lipodystrophy or insulin receptor defects) seen at the NIH and identified 19 patients with testosterone ≥ 80 ng/dl (immunoassay) and available serum samples. Quantitation of androgens was performed by LC-MS/ MS and compared to age, sex and BMI-matched controls. Data between groups was compared using non-parametric Mann-Whitney U test. Correlation analyses utilized the Pearson and Spearman’s rho. Results Median patient age was 18yrs (IQR 17-26) with median fasting insulin of 63mcU/ mL (IQR 40-184). Serum insulin correlated strongly with fold elevation of T in patients relative to controls (r= 0.47, P=0.04). Median levels of all androgens except 11-hydroxytestosterone (11OHT) were significantly higher in patients than controls, including 11-ketotestosterone (11KT), a clinically relevant androgen in both congenital adrenal hyperplasia and PCOS [69 ng/dl (IQR 27-82) vs 24 ng/dl (IQR 16-40), P &lt; 0.001]. 11KT/ T was lower in patients (0.30, IQR 0.12-1.15) compared to controls (1.1, IQR 0.41-1.5, P = 0.04). All 11-oxy-androgens correlated with each other (rs range: 0.6-0.8, P &lt; .05) in both groups. There was no difference in the proportionate contribution of 11-oxy-androgens to the total circulating androgenic pool in patients vs. controls. Conclusion: Elevated 11-oxy-androgens in patients with severe insulin resistance suggests that both adrenal and ovarian androgens are upregulated by hyperinsulinemia. Lower 11KT/T in patients compared to controls despite higher 11-oxy-androgens than in controls is consistent with predominant ovarian T excess in patients with severe IR. Correlation between insulin and fold elevation of T relative to controls supports hyperinsulinemia as the cause of high T in states of hyperinsulinism. Acknowledgement: This research was supported by the Intramural Program of NIH Clinical Center and NIDDK.