bluuebunny/crossref_metadata_2025_split huggingface dataset:
MON-LB002 Compounded Testosterone Preparations Raise Testosterone Levels to Premenopausal Ranges in Postmenopausal Women With Hypo-Sexual Desire Disorder (HSDD)
Authors: Olson Beatriz Rodriguez 
Published: May 2020

Abstract
Introduction
Testosterone (T) in women declines with age. T levels cannot differentiate women with or without HSDD. T therapy approximating upper physiologic premenopausal levels improves all domains of sexual desire, libido, and decreases sexual distress1,2. As of 2020, there are no FDA-approved T preparations for women. Male preparations of T are frequently used off-label to treat HSDD. No peer-reviewed data exists on T levels achieved with compounded testosterone preparations from a single reliable source. This study assesses efficacy of four compounded T preparations to raise T levels, using typically recommended doses. T was obtained from a single Pharmacy Compounding Accreditation Board (PCAB)-certified pharmacy.
Methods
Twenty-six matched baseline and post-treatment T levels were obtained as part of standard care for post-menopausal women (age 61±6 years) 3 months after being prescribed T for HSDD. T was obtained from the Women’s International Pharmacy. T doses were 0.5-2.0 mg/day, 6 days a week, using 4 methods of administration based on patient’s preferences: 1) cutaneous cream to skin (CS) behind the knees (n=12); 2) intravaginal suppositories (IVS) (n=5); 3) intravaginal oil-capsules (IVoil-C) (n=7); and 4) vulvar cream (VC) (n=2). Mean T dose was 1.5±0.6 mg/day. All patients gave consent for use of their T data, and were compliant with treatment for a week prior to testing. Measures of total T were performed by MS/LC, and of free T by equilibrium dialysis. Normal ranges for total T is 15-70 ng/dl and free T is 0.5-6.5 pg/ml. Paired T-tests comparisons between baseline and treatment values where done within each group where n was sufficient. (*p&lt;0.05, **p&lt;0.01).
Results:
Baseline and treatment total T (ng/dl) were 18.3±3.6 and 55.3±5.2** for CS, 19.8±4.3 and 56.6±15.9 for IVS (p=NS), 23.0±3.2 and 89.2±23* for IVoil-C, and 25.0±3.0 and 182±47 for VC. Baseline and treatment free T (pg/ml) were 1.18±0.26 and 4.16±0.6** for CS, 1.12±0.2 and 3.46±1.3 for IVS, 1.60±0.2 and 5.95±1.2* for IVoil-C, and 1.36±0.4 and 9.45±1.2 for VC. Testosterone administration by CS or IVoil-C significantly increased testosterone levels to the upper normal premenopausal range in women with HSDD.
Conclusion
Treatment of HSDD in postmenopausal women with compounded T via CS or IVoil-C, at doses of 0.5-2.0 mg, effectively raises T levels to upper premenopausal range. Vaginal oil capsules may be particularly useful in avoiding accidental hormone contact by other household members. A FDA-approved form of T replacement would be a welcome treatment for women with HSDD.
1. Islam RM et al. Lancet Diabetes-Endocrinology (7):754-66, 2019.
2. Davis SR. Climacteric, 22:5,429-434, 2019.
MON-LB038 Isolated Hypoaldosteronism Due to Autoimmune Adrenalitis in a Patient With Autoimmune Polyglandular Syndrome
Authors: Grover Dheera , Cao Chenxiang , Rao Sarika 
Published: May 2020

Abstract
BACKGROUND
At the initial presentation of autoimmune adrenal insufficiency, most patients present with hormonal deficiencies from all three layers of adrenal cortex. However, isolated aldosterone deficiency causing a true partial adrenal insufficiency in the setting of autoimmune adrenalitis remains underrecognized.
CASE REPORT
A 67-year old female patient with a known history of diabetes mellitus type 1 since the age of 13 and morphea, presented with progressively worsening symptoms of confusion and hallucinations, fatigue, and loss of appetite over the past 5 years. During this time, she has had frequent and recurrent episodes of mild intermittent hyponatremia with hyperkalemia requiring intravenous fluids and ingested salt tablets, especially when she felt more symptomatic. On her initial evaluation here, she presented with hyponatremia (125 mmol/l, n: 135-145 mmol/l), low osmolality (264 mOsm/kg, n: 275-295 mOsm/kg), and normal potassium level (3.6 mmol/l, n: 3.6-5.2 mmol/l). Further investigations drawn at the same time revealed a low aldosterone (&lt;4 ng/dL), normal renin (5.3 ng/mL/hr, ref 2.9-10.8), normal serum cortisol level (and normal response to Cortrosyn stimulation), though all in the setting of positive antibodies against 21-hydroxylase. Pan-imaging revealed no evidence of malignancy that can be causing ectopic SIADH production. Additional testing showed presence of auto antibodies contributing to pernicious anemia and thyroid disease. Treatment was started with fludrocortisone 0.1 mg tablet daily and she was advised to take the salt tablets only if she has any symptoms. The patient’s symptoms have resolved 8 months since this diagnosis, with normalized sodium and potassium levels.
CONCLUSION
Autoimmune primary adrenal insufficiency usually affects all three layers of the adrenal cortex, where patients present with deficiencies in cortisol and aldosterone. Isolated hypoaldosteronism has rarely been reported, however because it can cause life-threatening hyponatremia, it is an important entity to recognize. It is important to work up in such patients as they may be in the initial stages of autoimmune Addison’s disease and can progress to developing cortisol deficiency, though the time course to this progression is not well known.
SAT-LB75 Thyroid Peroxidase Antibody Positivity Predicts Relapse Free Survival Following Anti-Thyroid Drug Treatment for Graves Disease
Authors: Muir Christopher Alan , Greenfield Jerry Richard , Weissberger Andrew , Jones Graham R D , Samaras Katherine 
Published: May 2020

Abstract
Objective: Graves disease is an autoimmune disease characterized by production of autoantibodies directed against the thyroid gland. Thyrotropin-receptor antibodies (TRABs) are clearly pathogenic, but the role of thyroid-peroxidase antibodies (TPOAb) in Graves disease is unknown. Design: We retrospectively studied whether TPOAb positivity reduced risk of relapse following anti-thyroid drug treatment in newly diagnosed Graves disease. Results: During follow-up of 204 patients with TRAB positive Graves disease, 107 (52%) relapsed following withdrawal of anti-thyroid medication. Mean age was 40.0 years and 82% were female. The average duration of anti-thyroid drug (ATD) treatment was 23.5 months and was not different between patients who relapsed and those with sustained remission. Absence of TPOAb significantly increased risk of Graves relapse (OR 2.21) and displayed a trend towards shorter time to relapse. Male sex and younger age were additional factors significantly associated with increased risk of relapse. Conclusion: TPO-antibody positivity significantly improves odds of remission following ATD treatment in newly diagnosed Graves disease.
SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta
Authors: Choksi Ishani , Carpenter Thomas O , Robinson Cemre 
Published: May 2020

Abstract
Background: Osteogenesis imperfecta (OI) is characterized by bone fragility and increased fracture susceptibility. Most mutations occur in COL1A1 and COL1A2 genes. Rarely, mutations in BMP1 have been reported in association with OI type XIII. Disease severity is generally more severe when the mutation affects both gene products encoded by BMP1 that serve as procollagenases: bone morphogenic protein 1 and mammalian tolloid (mTLD) [1].
Clinical Case: A 7-year-old Hispanic boy, with speech and gross motor delays, sustained five bilateral tibial fractures with minimal trauma since age 2.5 years. At age 6 years, he developed severe back pain after a minor fall. Diffuse spinal osteopenia and multiple vertebral compression fractures (VCF) at T9, L1, L3 were identified radiographically, with progressive vertebral height loss in the ensuing 9 months. Fatigue was reported after walking &gt;10 min, with difficulty running and climbing stairs. There was no family history of musculoskeletal disorders.
Stature was consistently between 10-15th% for age. Subtle facial dysmorphism included micrognathia and small chin, with patchy blue-gray sclerae, and normal dentition. The lumbar spine was tender to percussion. Gait was slow and antalgic with external rotation of the right hip.
Laboratory evaluation revealed normal serum calcium, iPTH, magnesium, phosphate, 25-hydroxyvitamin D and alkaline phosphatase for age. P1NP was slightly high (193 µg/L, 30-110 µg/L) and CTX was slightly low (554 pg/mL, n: 574-1849 pg/mL), the latter being atypical for OI. Total hip BMD (adjusted for height Z-score) was normal (Z-score = 1.76) and adjusted femoral neck BMD was high (Z-score = 2.67). VCFs precluded assessment of lumbar spine BMD. Genomic analysis revealed a homozygous missense mutation in exon 4 of BMP1 resulting in an amino acid substitution (c. C505T; p.Arg169Cys) in both the bone morphogenetic protein 1 and mTLD gene products of BMP1. The mutation is predicted to be damaging to both proteins, and associated with this rare form of OI.
Conclusion: We report a novel homozygous mutation in BMP1 identified in a child with autosomal recessive OI. Unlike most forms of OI, patients with type XIII often have normal or increased BMD [1], making a correlation between BMD and fracture risk difficult. While bisphosphonates (BP) may help reduce recurrent fractures and provide symptomatic relief, the broad phenotypic spectrum and concern for further increasing BMD complicate management. A high resolution peripheral quantitative CT scan to assess bone microarchitecture and quality may aid in the decision of BP therapy. As evidence is limited on the effectiveness of BP in this rare form of OI, it is important to consider each case individually.
1.
Sangsin, A., et al., Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report. BMC Med Genet, 2017. 18(1): p. 25.
SAT-LB36 Distinct Vitamin D Receptor DNA Methylation Profiles Are Associated With the Outcome of Pediatric Patients With Adrenocortical Tumors
Authors: Bueno Ana Carolina , Stecchini Monica Freire , de Lima Neto Daniel F , Coeli-Lacchini Fernanda B , Ramalho Leandra N Z , Moreira Ayrton Custodio , Brandalise Silvia , Yunes Andres , Castro Margaret De , Vêncio Ricardo Z N , Antonini Sonir R R 
Published: May 2020

Abstract
Pediatric adrenocortical tumors (pACT) are rare, display complex genomic background and lack robust prognostic markers. Very recently, distinct genomic methylation profiles of pACT were associated with prognosis. The vitamin D receptor (VDR) was shown to be underexpressed in ACT, especially in carcinomas (ACC). In adult ACC, VDR inactivation by methylation was demonstrated. On the other hand, VDR activation was shown to inhibit ACC proliferation in vitro and in vivo.
Aim: To evaluate VDR DNA methylation profile and its clinical and prognostic significance in pediatric ACT.
Methods: Genomic DNA methylation from 57 pACTs [40 girls; median age: 2.1 (0.2-16.4) years] was assessed using Infininium Methylation EPIC BeadChip Array. Unsupervised hierarchical clustering analysis (Ward method, R Stats Package) was performed considering the M-values of the 49 probes targeting the whole extension of VDR gene contained in the array. Clinical, histopathological and molecular features, as well as pACT VDR mRNA levels (qPCR) and nuclear immunoreactivity (IHC) were used for association analysis.
Results: Hierarchical clustering identified three clusters of pACT. Methylated VDR-targeted probes (M-values different from 0; n=37) composed the VDR methylation profile, which differed significantly between the clusters [M-values: C1=1.77 (1.1-1.9) (low), C2=2.15 (1.7-2.7) (intermediate), and C3=2.65 (2.2-3.1) (high); p&lt;0.0001]. The C1 cluster comprised a set of patients with favorable outcome (n=18), who were younger (p=0.035), did not present metastasis at diagnosis (IPACTR stage IV) or after surgery, nor were diagnosed with carcinomas (Wieneke criteria &gt;=4), were not carriers of somatic Beta-catenin activating mutations, or died. Although cluster C2 patients (n=21) presented intermediary disease features, only 2 patients died and the overall outcome was positive. Instead, the C3 cluster concentrated patients (n=18) with non-localized/metastatic disease (IPACTR stages I/II vs. III/IV; p=0.004), post-surgical metastasis/recurrence (p=0.009), and patients who needed adjuvant chemotherapy (p=0.005). Moreover, C3 patients had lower overall and disease-free survival rates (log-rank: p=0.001 and p=0.014, respectively). VDR methylation was not associated with sex, clinical presentation, P53 mutations, nor with tumor VDR mRNA expression or nuclear immunoreactivity.
Conclusions: Three VDR methylation profiles were associated with distinct pACT clinical features and outcome. High VDR methylation was associated with worst outcome. Fully functioning VDR may play a beneficial role against pediatric adrenocortical tumorigenesis. This finding highlights the potential of targeting VDR as an adjuvant therapeutic target.
MON-LB041 Pheochromocytoma - Illusive Myriad of Symptoms
Authors: Gunda Mouna , Bantu Sravani , Jakka Bharath , Thudi Vaishali 
Published: May 2020

Abstract
Background: Pheochromocytoma is a rare neuroendocrine neoplasm arising from the adrenal medullary chromaffin cells. It contributes to 80-85% of catecholamine secreting tumors. The annual incidence of pheochromocytoma is 0.8 cases per 100,000 person-years. It can be both sporadic or familial. The classic triad of headache, palpitations and diaphoresis is seen in only 4% of cases. Rare presentations include cardiomyopathy, stroke, diabetes mellitus, ventricular arrhythmias and myocardial infarction. Our patient presented concurrently with dilated cardiomyopathy, hypertensive emergency and new-onset diabetes mellitus (DM) followed by ischemic stroke within a week. Heart failure can present as takotsubo or dilated cardiomyopathy with an incidence of 10%. The underlying pathophysiology is catecholamine mediated myocardial stunning, diffuse coronary vasospasm, microvasculature dysfunction and fibrosis. DM is seen in 23% of pheochromocytoma and is due to catecholamine-induced impaired glucose tolerance, and insulin resistance. Cerebral ischemia has an incidence of 3%, and is secondary to severe hypertension and cerebral vasospasm. Clinical Case: A 47-year-old African American woman presented with a 1-week duration of worsening dyspnea, orthopnea, dizziness, and palpitations. Past medical history includes HTN, non-ischemic cardiomyopathy on carvedilol and pravastatin. Physical exam: BP 182/119, HR 120, mild pulmonary crackles. Labs: proBNP 3533 (1-150 pg/ml), HbA1c 13.1%. Echocardiogram: moderate global hypokinesis with left ventricle ejection fraction (LVEF) of 30-35%. On imaging, CT of chest revealed an incidental finding of 4.7 cm right adrenal adenoma. MRI abdomen confirmed heterogeneously enhancing 4.3 cm right adrenal mass. Further testing showed high plasma catecholamines of 9963 (242-1125 pg/ml), 24-hour urine catecholamines of 2125 (50-100 mcg), thus confirming the diagnosis of pheochromocytoma. Further, her clinical course was complicated by left-sided weakness. MRI brain reported an acute infarct in right corona radiata. Pre-operative blockade was done with phenoxybenzamine and metoprolol. Subsequently, she underwent right adrenalectomy and tissue diagnosis confirmed pheochromocytoma. On follow up visit, her symptoms resolved. Also noted normalized catecholamine levels, HbA1c of 5.4% and LVEF of 40- 45%. Conclusion: Pheochromocytoma can rarely present with multi-organ failure. It warrants a high index of suspicion in non-ischemic cardiomyopathy. As per recent Mayo Clinic criteria, diagnosis of takotsubo cardiomyopathy mandates ruling out pheochromocytoma. As seen in our patient, it is a reversible cause of left ventricular dysfunction, focal weakness and DM. Based on our knowledge, this is the only contingently diagnosed pheochromocytoma with varied clinical presentations. It has been aptly described as “The Great Masquerader”.
SAT-LB312 Central Diabetes Insipidus as Presenting Manifestation of Suprasellar Epidermoid Cyst
Authors: Bokhari Samia Abdullah 
Published: May 2020

Abstract
Back Ground: Epidermoid cysts (ECs) result from the inclusion of squamous epithelial elements during neural tube closure. ECs are tumors constituting 02-1.8% of all brain tumors. ECs are typically found in cerebellopontine angle, but occasionally develop in sellar region. ECs are usually clinically silent, but may produce signs of mass effect as headaches, visual field defects. ECs presenting with Central Diabetes insipidus is reported but rare. Only two cases were reported in literature (Ref: 1).Here we report a case of sellar Epidermoid cyst presenting with Diabetes insipidus. Case Description: 49-year male presented with one-month history of polyuria, polydipsia and weight loss. The initial work up identified normal blood glucose, serum calcium and renal function. The water deprivation test confirmed the diagnosis of central Diabetes insipidus. Further pituitary hormonal assessment revealed panhypopituitarism along with diabetes insipidus. The MRI of brain showed evidence of large sellar supracellar cystic mass with a differential diagnosis of craniopharyngioma, Rathkeys cyst. Surgery performed in order to remove the tumor. The pathological report confirmed the tumor as epidermoid cyst. He did well through hospital stay. DI and along with panhypopituitarism persisted post operatively and treated with hormonal replacement. Conclusion: ECs of sellar region vary in presentation depending upon their location, and extension into surrounding areas producing mass effects. Diabetes Insipidus is a rare presentation in these rare tumors. References: 1: CW huo, C Caputo,YY Wang: Supracellar keratinous cyst: A case report and review on its radiological features and treatment: Surgical Neurology International 2018,9;15
SUN-194 Adrenal Incidentaloma to Pheochromocytoma (Variant of Unknown Significance of Von Hippel Lindau Syndrome, VHL)
Authors: Oo Yin Htwe 
Published: May 2020

Abstract
Introduction
The majority of adrenal masses are found incidentally during imaging for non-adrenal causes. Approximately 5% of adrenal incidentalomas have proved to be pheochromocytomas. The majority of incidentalomas are benign and non-secretory.
Case
A 73 years-old white male with pre-diabetes and morbid obesity has been followed by endocrine service for right adrenal incidentaloma overall several years. A 1.6 cm right adrenal nodule with 31 Hounsfield Unit was found incidentally in 2009 CT abdomen for abdominal pain. It was a lipid poor adenoma with &gt;60% absolute contrast washout in 10 minutes. Biochemically it was non-secretory. The size of nodule was gradually increased over next seven years measuring at 1.9 x 1.6 cm in 2010 and 2.1 x 1.6 cm in 2012 but remained non-secretory. In 2015 CT scan, it was measured at 3.0 x 2.3 cm with absolute washout value of 45% and relative washout value of 34%. The size was overall stable again for next three years measuring at 3.2 x 2.2 cm in 2018 scan. Repeat plasma and urine metanephrine were about 2-folds higher than upper normal reference level in 2015 and 3-folds higher in 2017. Clinically he was asymptomatic except anxiety. He has normocalcemia. He underwent laproscopic right adrenectomy after alpha blockage with doxazosin. Pathology showed 4.5 cm pheochromocytoma with positive chromogranin and synaptophysin. Fulgent paraganglioma-pheochromocytoma comprehensive panel with negative for RET,NF1,FH,SDHB,SDHD,SDHC,SDHAF2,SDHA,MAX,TMEM127 and VHL but noted to have heterozygous VUS of VHL c.205&gt;G(p.Arg69Gly). He has no significant family history or personal history to suggest VHL.
Discussion
In a patient with lipid poor adrenal incidentaloma, pheochromocytoma should be ruled out biochemically with either plasma or 24hr urine fractionated metanephrine. Both tests have similar specificity and sensitivity. Even with initial negative biochemical assessment, repeat screening should be performed annually based on clinical suspicion and radiology characteristics. Imaging can be performed annually or biannually to assess the stability of nodule. VHL is an autosomal dominant hereditary disease with del/dup mutation in the VHL gene and associated with multisystem tumor such as CNS or retinal hemagioblastomas, RCC, pheochromocytoma, pancreatic NET, endolymphatic sac tumor, epididymal and broad ligament cystadenoma and visceral cysts.
Learning points
Lipid poor adrenal incidentaloma needs interval biochemical and imaging follow up. The frequency of monitoring can be individualized based on clinical suspicion and radiology findings. Pheochromocytoma can be clinically silent especially if it is small, however, it can be lethal with late or missed diagnosis. This is the first published case report of c.205C&gt;G VHL variant associated with pheochromocytoma.
OR28-05 Approaching Indeterminate Thyroid Nodules in the Absence of Molecular Markers. “The BETH-TR Score”
Authors: Kannan Subramanian , Khadilkar Kranti , Siddegowda Shivaprasad Kumbenahalli 
Published: May 2020

Abstract
Context: Given the lack of easy access to molecular markers, for indeterminate thyroid nodules (Bethesda (BETH) category III, IV), the clinician can either decide to get a second opinion from an expert high volume thyroid cytopatholgist, re-do the FNAC after a period of 3-6 months or send the patient for a diagnostic hemithyroidectomy. Reviewing the sonographic risk features is also one way of triaging these nodules. The ACR-TIRADS (TR) is an objective method of sonographic risk assessment and is superior to other forms of sonographic classification. Aim: We propose combining the scoring of TR category and BETH category (both expressed as numerical value and summated) and look at the score which could potentially guide the clinician in deciding whom to send for surgery. Settings and Design: Observational Prospective collection of consecutive patient data from Thyroid FNAC clinic. Statistical analysis used: The BETH categories were represented numerically and summated with the TR category. The categorical outcome variables of Benign and Malignant nodules and the summated score was analysed using Kruskal-Wallis test. Results: We analysed 450 FNAC data, out of which 403 were thyroid nodule aspirates. Out of these nodules, 96 of them underwent surgery and 64% of these nodules were malignant on final histopathology (Malignant=62 and Benign=34). The mean (sd) size of the benign nodules was 3.6 (2.2)cm compared to 2.8 (1.8)cm of the malignant nodules. After excluding those with BETH 1 (n=4), the mean BETH-TR score for benign nodules was 6(1.4) and malignant nodules 9.4(2.1) (p&lt;0.0001). The BETH-TR score progressively increased from 7.3(0.92) in Follicular thyroid cancers (FTC) to 8.6(1.4) in Follicular variant Papillary thyroid cancer (FVPTC) to 10(1.3) in classic Papillary thyroid cancers (PTC). Among the indeterminate nodules (BETH III & IV; n=40), the BETH-TR score of benign nodules was 6.75(1) and malignant nodules was 7.5(0.72) (p value=0.01). A BETH-TR score &gt;=7 gave a sensitivity of 92% specificity of 74% and correctly identified malignant nodules in 86% of cases (Likelihood ratio 3.5; ROC area: 0.8841; CI 0.79-0.94). Conclusion: A combined sono-cytological BETH-TR score is one way to triage management of indeterminate thyroid nodules. A BETH-TR score &gt;=7 gave a sensitivity of 92% specificity of 74% and correctly identified malignant nodules in 86% of cases.