bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT-310 Analysis of the Influence of Glucocorticoid Receptor Gene Polymorphism BCL-1 on Clinical and Psychiatric Manifestations in Brazilian Patients with Cushing’s Disease
Authors: Garcia Erica , Amato Angelica Amorim , Barra Gustavo Barcelos , Naves Luciana Ansaneli , Vilar Lucio , Neves Francisco de Assis Rocha , Azevedo Monalisa Ferreira 
Published: May 2020

Abstract
In Cushing’s disease (CD), the spectrum of clinical manifestations is considerably wide, and the intensity of symptoms does not correlate with the magnitude of cortisol hypersecretion or with pituitary tumor size. Polymorphisms in the gene that encodes the glucocorticoid receptor (GR), an essential regulator of the hypothalamic-pituitary-adrenal axis, have been linked to some psychiatric disorders. Considering that psychiatric manifestations are present in nearly all patients with hypercortisolism, we hypothesized a possible correlation of polymorphisms in the GR gene and clinical and psychiatric manifestations, in CD. To investigate the frequency and clinical implications of the GR gene polymorphism Bcl-1 in patients with CD, we conducted a cross-sectional, case-controlled study. Fifty-three Brazilian patients with CD aged between 12 and 75 years and one hundred healthy controls aged between 42 and 67 years, of both genders, who provided written informed consent, were enrolled. Blood samples were collected from patients for DNA extraction and sequencing for analysis of the GR gene polymorphism Bcl-1. Clinical data (obesity, skin lesions, muscle weakness, hypertension, diabetes, hypokalemia, and sex-related disorders) were obtained through retrospective analysis of medical records, appointment with endocrinologist and with psychiatrist. Mini International Neuropsychiatric Interview, scales self-applicable of anxiety and depression were used to address psychiatric conditions. From the 53 patients studied, 48 were women (90,56%), and 16 patients had macroadenoma (2 of them had tumors larger than 4 cm). Overall frequencies of the Minor Allele for Bcl-1 polymorphism, which corresponds to the risk allele for psychiatric illness in the normal population, did not significantly differ between CD patients (67.92%) and controls (74.00%). Similarly, differences in Minor Allele Frequencies among subgroups of patients presenting with psychiatric and clinical manifestations of CD were not statistically significant. Although data from the literature strongly suggests a correlation between Bcl-1 polymorphism with psychiatric disorders (especially depression) in the normal population, this association was not observed in our cohort of patients with CD. More studies are needed to better clarify a possible role for GR gene polymorphisms as modifiers of the spectrum of psychiatric and clinical manifestations of CD.
SUN-LB24 Clinical Performance of Multiplatform Mutation Panel MicroRNA Risk Classifier in Indeterminate Thyroid Nodules
Authors: Sistrunk J Woody , Shifrin Alexander , Frager Marc , Bardales Ricardo H , Thomas Johnson , Fishman Norman , Goldberg Philip Andrew , Guttler Richard B , Grant Edward 
Published: May 2020

Abstract
Introduction: We evaluated the clinical performance of an expanded mutation panel in combination with microRNA classification (MPTX) for the management of indeterminate thyroid nodules. Methods: MPTX included testing of fine needle aspirates with a combination of ThyGeNEXT® mutation panel for strong and weak driver oncogenic changes and ThyraMIR® microRNA risk classifier. MPTX test status (positive or negative) and MPTX clinical risk classifications (low, moderate, or high risk) were determined blind to patient outcomes. Surgical pathology and clinical follow-up records of patients from multiple centers were used to determine patient outcomes. MPTX performance was assessed by Kaplan Meier analysis for cancer-free survival of patients, with risk of malignancy determined by hazard ratios (HR). Results: Our study included 140 patients with AUS/FLUS or FN/SFN nodules, of which 13% had malignancy. MPTX negative test status and MPTX low risk results conferred a high probability (94%) that patients would remain cancer free. MPTX positive test status (HR 11.2, P&lt;0.001) and MPTX moderate risk results (HR 8.5, P=0.001) were significant risk factors for malignancy, each conferring a 53% probability of malignancy. MPTX high risk results elevated risk of malignancy even more so, conferring a 70% probability of malignancy (HR 38.5, P&lt;0.001). Conclusions: MPTX test status accurately stratifies patients for risk of malignancy. Further classification using MPTX clinical risk categories enhances utility by accurately identifying patients at low, moderate, or high risk of malignancy at the low rate of malignancy encountered when clinically managing patients with indeterminate thyroid nodules.
SAT-LB314 Not That Sweet Honeymoon: A Case of Proinsulinoma
Authors: Maldonado Francisco Javier Lopez , Mayorga León Angel Alfonso , Milan Eduardo Rafael Leon , Chinchillas Carlos Alfonso Morales , Guardado Jesus Alan , Fragoso Maria Elena Marin , Yocupicio Flor Maria , Luareano Karla Itzel , González Alondra Rodríguez 
Published: May 2020

Abstract
Introduction
Proinsulin-secreting tumors (proinsulinomas) are exceedingly rare, characterized by the predominant hypersecretion of proinsulin. We present an unusual case of hypoglycemic syndrome in a 19-year old woman with a proinsulinoma (PI).
Clinical Case
19-year-old female presented mild neuroglycopenic symptoms (SX) while having sexual intercourse with her husband at their honeymoon. Her condition began with diaphoresis, blurred vision, tremors and anxiety ending in somnolence that appeared exactly during sexual intercourse and disappear with orange juice intake. The SX kept appearing every time she had intercourse during the next month, denying that any other situation triggered them. She was referred to psychiatry where she was diagnosed with erotophobia and treated with fluoxetine and alprazolam. She gained 33 pounds and referred her husband gave her chocolate bars during sexual intercourse so SX wouldn’t appear. 5 months later she presented cognitive deterioration characterized by stupor during intercourse, so she was taken to the emergency department (ED). Arrived the ED with tachycardia (110 bpm), BP 140/90 mmHg, stuporous, diaphoretic, pale and with a 27mg/dl blood glucose (BG). The patient was admitted to the hospital for further evaluation. After 12 hours of insulin fasting test, she began with SX and a 32 mg/dl glycometry was registered, the test was stopped afterwards. Serum labs were obtained: BG 28 mg/dl, insulin 3 (n 3.0-25.0Uiu/ML), C-peptide 0.9 (n 0.8-3.0ng/ml), proinsulin 298 (≤ 18.8 pmol/L). Abdominal CT scan in arterial phase revealed a single round, hypervascular image, located in the pancrea’s body, 1.96 x 1.37 x 1.42 cm and 123 HU. Enucleation of the mass was performed. The histopathological report showed a neuroendocrine neoplasia and chromogranin positive immunohistochemistry in the neoplastic cells. Patient presented complete clinical remission, fluoxetine and alprazolam were discontinued and she lost 35 pounds in the next 6 months.
Conclusion
PI are predominantly benign neuroendocrine tumors that have the potential to cause symptomatic hypoglycemia. The patient’s clinical manifestations were confused with an anxious syndrome and erotophobia, and these cases illustrate that the diagnosis of organic hypoglycemia can be challenging.
MON-059 Acute Hyponatremia Following Computed Tomography Radiocontrast in a Pediatric Patient
Authors: Chiu Harvey Kenn , Bahri Shadfar , Iskander Paul 
Published: May 2020

Abstract
Hyponatremia is a common laboratory finding. Radiocontrast is hyperosmolar and can draw fluid from the intracellular to the extracellular compartment, but radiocontrast-induced hyponatremia is rare, usually noted in the context of renal insufficiency as a consequence of extracellular expansion exceeding diuresis. We describe an unusual case of 3-year old girl with normal renal function who developed significant hyponatremia following computed tomography radiocontrast. The patient had a mediastinal mixed yolk sac/germ cell tumor and mature teratoma. Imaging was performed with a PET/CT, cardiac CT angiogram, and abdominal CT, for which she received Omnipaque radiocontrast 2 cc/kg. Hyponatremia developed 5 days after administration, with a fall from a baseline sodium of 141 mmol/L to an eventual nadir sodium of 123 mmol/L. An assessment using the serum osmolality of 266 mOsm/kg failed to diagnose hyperosmolar effects of the radiocontrast, with an undetectable concurrent vasopressin level of &lt;0.5 pg/mL. 3% NS boluses failed to have an enduring effect. Without a specific enduring intervention, the hyponatremia then resolved 9 days after administration of the radiocontrast, as the sodium levels remained between 134–139 mmol/L over the subsequent 5 days. Recognition of the clinical scenario and time course of events for radiocontrast-induced hyponatremia is essential for a correct diagnosis. Pediatric patients may be particularly susceptible to radiocontrast-induced hyponatremia given the inherently small size, and following administration of radiocontrast in a pediatric patient, significant morbid hyponatremia is a possible sequalae that should suspected especially if suggestive clinical symptoms present.
SAT-689 Amantadine Induced Severe Hypoglycemia in a Patient With Type 1 Diabetes and Multiple Sclerosis
Authors: Mishriky Basem M , Cummings, PharmD Doyle M , Powell James R 
Published: May 2020

Abstract
Introduction: Amantadine is one of the few options commonly used to treat fatigue associated with multiple sclerosis. However, in a previous trial investigating the effect of amantadine on oral glucose tolerance test results, amantadine caused a reduction in plasma glucose and glucagon levels while increasing insulin levels in healthy volunteers [1]. If amantadine can reduce glucagon levels, we hypothesized that it might also cause hypoglycemia in patients with type 1 diabetes.
Case presentation: The patient is a 34-year-old African American male who has a past medical history of type 1 diabetes and multiple sclerosis. His baseline hemoglobin A1c values ranged from 6.9% to 7.6% and his weight was 88 Kg. His insulin glargine dose was 28 units daily while his insulin lispro was 10 units before meals. For almost one year he was followed in clinic and had no episodes of severe hypoglycemia (defined as hypoglycemia requiring assistance from another person).
The patient complained about gait imbalance and fatigue from multiple sclerosis for which he was followed by a neurologist. To treat these symptoms, he was prescribed amantadine 100 mg twice daily. A couple of hours following his first dose of amantadine after eating his usual breakfast (with his sister), the patient was found unconscious by his sister. Emergency Medical Services (EMS) was called and he was found to have a blood glucose of 22 mg/dL. He was admitted to the hospital. During that admission, amantadine was discontinued, and he was discharged on insulin glargine 24 units daily and insulin lispro 10 units with meals.
Discussion: We present a case of suspected amantadine induced severe hypoglycemia. In patients with type 1 diabetes, there is a loss of the pancreatic β-cells while the α-cells are preserved [2, 3]. We hypothesize that if amantadine reduces glucagon production from the α-cells, patients would be prone to severe hypoglycemia, presumably because of the unopposed insulin action. Although it is unlikely that the severe hypoglycemia was secondary to insulin since the patient was on stable doses, it cannot be completely excluded. We recommend caution when prescribing amantadine to patients on insulin therapy particularly within the first two hours after rapid acting insulin administration. More research is needed to explore this possibility.
References: [1] Diabetes Metab Syndr Obes 2009; 2: 203. [2] Br J Diabetes Vasc Dis 2014; 14: 45. [3] Peptides 2018; 10: 54.
MON-LB131 Perfluoroalkyl Substance Exposure Was Negatively Associated With Cortisone Levels in Pregnancy
Authors: Dreyer Anja Fenger , Jensen Richard Christian , Glintborg Dorte , Schmedes Anne Vibeke , Brandslund Ivan , Nielsen Flemming , Kyhl Henriette Boye , Jensen Tina Kold , Andersen Marianne 
Published: May 2020

Abstract
Introduction: During pregnancy, maternal cortisol levels are increased threefold by third trimester. The enzyme 11β-hydroxysteroid dehydrogenase (11β-HSD, isoforms 1 and 2) regulates cortisol levels by the conversion between cortisol and cortisone. Perfluoroalkyl substances (PFAS) are persistent chemicals with suspected endocrine disrupting abilities applied in consumer products. PFAS have been reported to inhibit 11β-HSD1 and 11β-HSD2, which could lead to reduced levels of cortisol and cortisone.
Aim: To investigate a possible effect of early pregnancy PFAS exposure on late pregnancy activity of 11β-HSD1 and 11β-HSD2 assessed by cortisol and cortisone levels in urine and blood samples.
Methods: The study is part of the prospective cohort study, Odense Child Cohort (OCC). A total of 1,826 pregnant women had serum (S) concentrations of five PFAS (Perfluorooctanoic acid (PFOA), perfluorooctane sulfonic acid (PFOS), perfluorohexane sulfonic acid (PFHxS), perfluorononanoic acid (PFNA), and perfluorodecanoic acid (PFDA)) measured in first trimester (median gestational week (GW) 11). Diurnal urinary (dU) cortisol and cortisone (n=344), and S-cortisol (n=1,048) were measured in third trimester (median GW 27).
Results: In multiple regression analyses, a two-fold increase in S-PFOS was significantly associated with lower dU-cortisone (β=-9.1%, p&lt;0.05) and higher dU-cortisol/dU-cortisone (dU-C/C) (β=9.3%, p&lt;0.05). The same trend was demonstrated for PFOA, PFHxS, PFNA, and PFDA. In crude models, a doubling in PFOS, PFOA, PFHxS, and PFNA concentrations were associated with a significant increase in S-cortisol, however, these associations became insignificant after adjustment.
Conclusion: Early pregnancy concentrations of maternal S-PFAS were inversely associated with late pregnancy dU-cortisone, indicating reduced activity of 11β-HSD2.
SAT-LB66 X Linked Rickets: Description of 16 Cases in the Adulthood in Argentina
Authors: Schiró Laura María , Núñez Hilda Tatiana Martínez , Rodriguez Patricia , Giacoia Evangelina 
Published: May 2020

Abstract
Introduction. X-linked hypophosphatemic rickets (XLH) is an inherited disorder that results from an inactivating mutation of the PHEX gene. The familiar form comprises most cases. Its incidence is 4.8 per 100000 persons (Haffner D et al., 2019). XLH is characterized by bowed or bent legs, short stature, tooth abscesses, hearing loss, joint pain and impaired mobility, which can alter quality of life.
Aim. To describe clinical characteristics, laboratory and imaging findings of XLH adult patients attending to our hospital; to evaluate physical function and impact on the quality of life; to estimate adherence to conventional treatment.
Methods. A retrospective, observational study from 16 XLH patients medical records was performed. Age, sex, BMI, age at diagnosis, number of fractures, bone deformities, corrective surgeries, biochemical and genetic profile were evaluated. Physical functionality, pain and stiffness were measured with WOMAC (Bellamy N et al., 1988) and PROMIS scale; and QOL with SF36. Adherence to treatment was assessed with the CQR questionnaire. To monitor treatment complications renal ultrasound and brain CT scan were performed.
Results. 16 patients were evaluated, 14 (88%) female, 2 (12%) male, with a mean (☐) age 40.06 years (± 12.4), Age at diagnosis (12%) male, with a mean:12.68 years (SD ± 18.37), BMI ☐:38.5 kg/m2 (13.07), stature ☐:129.9 cm (± 33.9), fractures 8/16 (50%) and skeletal deformities 16/16 (100%), number of corrective surgeries required 15/16 (94%), pseudofractures 13/16 (81%), kyphoscoliosis 8/16 (50%). Laboratory: calcemia ☐:9.5 mg/dl (± 0.37), phosphatemia ☐:2.07 mg/dl (± 0.41), PTH ☐:88.31 pg/ml (± 36.1), 25OHD ☐:26,77 ng/ml (± 11.48), RTP ☐:76.76% (± 11.19), FAO ☐:37.08 (± 26.94), CTX ☐:1646 (± 1119), FGF23 ☐:58.85 pg/ml (± 27.7). Genetic profile: 1/14 had a definitely pathogenic not previously described in the literature mutation. 14/16 (88%) patients showed NOT to adhere to conventional treatment. Application of WOMAC function scale ☐:47.87 (± 25.23); PROMIS ☐:31.5 questionnaire (± 9.23); SF36 ☐:34.95 (± 8.5). Renal ultrasound abnormalities 2/16 (13%) nephrocalcinosis and 3/16 (19%) renal lithiasis; no brain calcifications in the CT were described.
Conclusion. We note that the high percentage of patients not adherent to conventional treatment leads to marked impaired physical function with important skeletal deformities, fractures and pseudofractures, bone pain and altered QOL. Early diagnosis, adequate treatment and follow-up by a multidisciplinary team will avoid complications and improve the patient’s quality of life.
MON-LB003 Clinical Case Series of Augmented Fertility in Females After Administration of an Amino Acid Blend That Enhances Release of Human Growth Hormone
Authors: Swelstad Brad B , Blauer Keith Leon , Greenway Frank Lyons , Heaton Amy L , Buster John E 
Published: May 2020

Abstract
Supplementation with adjuvant therapies, including growth hormone (hGH), is commonly used to improve fertility treatment outcomes. hGH is important for normal female fertility; low hGH has been associated with causes of infertility and impaired fertility, including polycystic ovarian syndrome (PCOS), endometriosis, diminished ovarian reserve (DOR), and advanced maternal age. A novel, low dose, orally administered amino acid blend has been previously shown in a double-blind, randomized, placebo-controlled, crossover clinical trial to produce a statistically significant increase in endogenous hGH secretion. In this clinical case series, we report outcomes in 7 women with infertility or impaired fertility and conditions associated with low hGH who administered the amino acid blend during fertility treatment (n=5) or timed intercourse/spontaneous pregnancy (n=2). Medical history included conditions associated with impaired fertility and low hGH: endometriosis (n=3), PCOS (n=2), and poor response to ovarian stimulation/history of failed in vitro fertilization (IVF) (n=3). The amino acid blend (containing 2.9 g of L-lysine, L-arginine, oxo-proline, N-acetyl-L-cysteine, L-glutamine, and schizonepeta) was administered daily on an empty stomach. Outcomes included embryo quality and success of embryo transfer (for IVF) and successful pregnancy/live births. Mean±SD age was 33±5 years (range 27-38) and BMI was 27±7 kg/m2 (range 21-37). Time to pregnancy ranged from 1 week to 9 months (median 3 months) prior to egg retrieval for IVF (n=4), intrauterine insemination (n=1), or timed intercourse/spontaneous pregnancy (n=2). For women with a history of failed IVF (n=3), there was an improvement in oocyte retrieval, a higher fertilization rate, and a greater number of high-quality embryos compared to previous IVF attempts. There were 2 twin pregnancies (both following IVF). All 7 pregnancies resulted in live births. Consistent with previous studies, the amino acid blend was well tolerated; no adverse events were observed. We report a case series of successful pregnancy in 7 women with conditions associated with low hGH including PCOS, endometriosis, and poor response to ovarian stimulation/history of failed IVF who administered the amino acid blend concomitant with fertility treatment or who reported spontaneous pregnancy. This may represent a potential low-risk and cost-effective treatment to improve IVF success and increase pregnancy rates in individuals with infertility or impaired fertility.
SAT-LB55 A Case of Central Hyperthyroidism From a TSH Secreting Pituitary Adenoma
Authors: dela Cruz Almeda Maria Guia Estrella 
Published: May 2020

Abstract
This is a case of a 41 year old Filipino female, with one month history of palpitations, unintentional weight loss and increased frequency of bowel movement. Patient was tachycardic and had a slightly enlarged thyroid on physical exam. There were no cushingoid or acromegalic features. Initial work-up revealed elevated TSH 7.10 U/mL prompting referral to an endocrinologist who had an initial consideration of central hyperthyroidism, MRI was done revealing a pituitary adenoma with dimensions of 7.4 x 11 x 5.8 mm. Prolactin level was at 118.9 ng/mL, gonadotropins (FSH 5 mIU/mL, LH 4.3 IU/L) were within normal range for pre-menopausal non pregnant women and early 24h urine cortisol was within normal at 63.79 nmol/ day. Patient was started on propranolol 40 mg thrice daily and methimazole 20 mg twice a day which prompted slight relief. She was also referred to neurosurgery service for further management. Patient underwent transsphenoidal surgery which was tolerated well. Subsequent clinical course revealed improvement of hyperthyroid symptoms with no evidence of post-operative complications such as hematomas, CSF leak, vision loss, diabetes insipidus or central adrenal insufficiency. Immunohistochemical staining was positive for TSH.
On outpatient follow-up, repeat thyroid function tests were within normal with TSH 1.260 and free T4 15.07 pmol/L. Patient is currently symptom free and off methimazole or propranolol. Future plans include a repeat MRI after 6 months of surgery and hormonal testing to confirm cure.