bluuebunny/crossref_metadata_2025_split huggingface dataset:
SAT290 Course of SARS-CoV-2 Infection In Patients With Congenital Adrenal Hyperplasia
Authors: Javaid Rida , Kollender Sarah , Moon Amy , Merke Deborah P 
Published: October 2023

Abstract
Disclosure: R. Javaid: None. S. Kollender: None. A. Moon: None. D.P. Merke: Research Investigator; Self; Diurnal, Neurocrine Biosciences.
Patients with primary adrenal insufficiency (PAI) are at risk for life-threatening adrenal crises, most often triggered by illness. Prior studies suggest possible inefficient immune response in PAI, especially in patients with autoimmune Addison’s disease. Starting in December 2019, the pandemic due to the novel SARS-CoV-2 coronavirus created many challenges in patient management. Data regarding COVID-19,risk of severe illness, and proper prevention of adrenal crisis in patients with PAI due to congenital adrenal hyperplasia (CAH) are lacking.Objective:To describe the experience of patients with PAI due to CAH who acquired COVID-19 in a large cohort study.Methods:Questionnaires and retrospective chart reviews were performed for all patients enrolled in a Natural History Study at the National institute of Health (NCT00250159) who reported COVID-19 infection from March 2019 until November 2022.Results:42 patients with CAH (25 salt-wasting 21OHD, 13 simple virilizing 21OHD, 1 nonclassic 21OHD, 3 P450 SCC deficiency) reported 46 episodes of COVID-19 infections (12 pediatric, 34 adult), 16 were before nationwide vaccine distribution. Of the 30 responses post vaccine, 23 were vaccinated and 7 were unvaccinated. Patients were instructed to stress dose according to standard guidelines for general illnesses. In 21 episodes, patients did not stress dose; in 25 episodes, patients stress dosed orally (1 to 15days); in 6 episodes, patients received intramuscular Solucortef injections. Two patients (8 y.o., 63 y.o.) were hospitalized. One patient with salt-wasting CAH and asthma developed long COVID following 2COVID-19 episodes. Patient risk factors for COVID-19 included: 6 obese (BMI &gt; 30), 2 tobacco users, 1 with concomitant type 1 diabetes mellitus. COVID-related symptomatology was similar to national trends. Early in the pandemic, patients were more likely to have loss of taste and smell, as well as GI symptoms, and later in the pandemic, patients were more likely to experience cough, sore throat, tiredness, and body aches. Data analysis underway.Conclusion:Patients with PAI due to CAH do not appear to be at greater risk of acquiring COVID-19 and do not have higher risk of complications triggered by COVID-19 infection than the general population. Standard glucocorticoid stress dosing guidelines are appropriate in the setting of COVID-19. Glucocorticoid stress dosing is not recommended if the patient is without fever or gastrointestinal symptoms.
Presentation: Saturday, June 17, 2023
SAT294 Effectiveness Of Electronic Consults For Immune Related Endocrine Toxicities In Reducing Appointment Access Time And Preventing Hospital Admissions
Authors: Diamond Carrie , Patolia Harsh , Phinney Donna , Shariff Afreen 
Published: October 2023

Abstract
Disclosure: A.I. Shariff: Consulting Fee; Self; Bristol-Myers Squibb. Speaker; Self; Merck.
Background: Endocrine irAEs are noted in 4% to 14.6% of ICI treated patients leading to 12.2% of irAE related admissions.1Delayed access, diagnosis and management are often causes of preventable hospital admissions in cancer patient.2 3 Herein, we describe a single-institution experience with an e- consult platform from oncology to endocrinology as a cost effective and high impact solution to this limitation. Methods: Between 5/1/2020 to 11/1/2021 patients who received ICI were included in a retrospective observational cohort study. Data collection included patient demographic, cancer, treatments, irAE and appointment specifics. Results: 102 e-consults were reviewed during the study period. Thyroiditis was noted as the most common irAE while NSCLC, and pembrolizumab use were most commonly noted in the cohort. 88 and 60 consults received diagnostic and treatment recommendations respectively. Reduction in median time to appointment was lowered from 60.5 days to 38.50 days. Among e-consulted patients, 2 (2.23%) required hospitalization for further evaluation and management. This is a reduction from previous data at the same institution (2007- 2017) where 11% endocrine toxicities were admitted. With an average length of stay approximated to 6.4 days at $3,142 per day, a total of $100,544 was saved as a result of the consult service.1 We also noted that these e-consults were poorly reimbursed by all payers, and current average reimbursement ranged from $15- $32/ consult.4Conclusion: This study underscores the impact and effectiveness of e consults as a tool for timely recommendations and improving access leading to reduction in health care utilization. To support e-consults, the effort-payment mismatch must be addressed by health systems and payers that can propel integration and scalability of these effective services across oncology and other subspecialty practices to enhance access and mitigate gaps in specialty care provided to cancer patients.
Presentation Date: Saturday, June 17, 2023
SAT298 Adrenal Insufficiency Presenting With Isolated Severe Hyponatremia: A Case Series
Authors: Shafi Amtul , Berardo Jeronimo , Hwang Jessica 
Published: October 2023

Abstract
Disclosure: A. Shafi: None. J. Berardo: None. J. Hwang: None.
Background: Adrenal insufficiency (AI) is an overlooked cause of severe hyponatremia (defined as serum Na &lt;120); especially when it is not accompanied by other classic features (i.e., hypotension, hypoglycemia or other electrolyte dysfunction) leading to delayed diagnosis, treatment and increased length of hospital stay (LOS).Case series: We report 14 cases (9 distinct patients) of hospital admission for severe hyponatremia either on presentation or during course of hospitalization attributable to adrenal insufficiency. Four of the nine patients had multiple admissions. These cases were divided into 2 groups based on if they were newly diagnosed (n=6) or had a known diagnosis (n = 8) of AI. Mean age was 56 for both groups, serum Na was 117 vs 114, systolic BP was 126 vs 123. Endocrine was consulted on day 4.5 vs 1.8 and hydrocortisone was started on day 4.8 vs 1.3 resulting in length of stay 8 vs 5 days, respectively. 80% of the subjects also had hypothyroidism with a mean free T4 of 0.87 vs 0.71. In the newly diagnosed group, cortisol was checked on day 3.5. The majority (86%) of admissions were attributed to a secondary adrenal insufficiency crisis. Conclusion: This case series presents several important conclusions which impact endocrine consultation, treatment and length of hospital stay. A) Despite various hyponatremia guidelines suggesting ruling out AI and hypothyroidism before empirical diagnosis of SIADH, there can still be delay in checking cortisol status. B) AI presentation can lack hemodynamic instability or other electrolyte abnormalities so a high clinical index of suspicion should be exercised in diagnosing this potentially fatal condition when encountering isolated severe hyponatremia. C) There is a significant rate of readmission in cases of severe hyponatremia related to adrenal insufficiency.
Presentation: Saturday, June 17, 2023
SAT299 Comparison Of Plasma Cortisol-, Salivary Cortisol- And Salivary Cortisone-response To The Short Synacthen Test In Women Using Oral Contraceptives
Authors: Bäcklund Nils , Lundstedt Staffan , Olsson Tommy , Dahlqvist Per Mikael , Brattsand Göran 
Published: October 2023

Abstract
Disclosure: N. Bäcklund: None. S. Lundstedt: None. T. Olsson: None. P.M. Dahlqvist: None. G. Brattsand: None.
Introduction: The short Synacthen test (SST) is a cornerstone in the diagnosis of adrenal insufficiency (AI). However, cortisol levels in serum or plasma may be misleadingly elevated by estrogen containing oral contraceptives (OCs), due to increased levels of cortisol binding protein (CBG). This may falsely declare a woman with AI to be cortisol sufficient. Salivary cortisol and cortisone closely correlate with the unbound fraction of plasma cortisol and is thus less likely to be influenced by variations in CBG levels. Our hypothesis was that the salivary cortisol and cortisone response to SST would be similar in women with and without OC use. Materials and methods: A standard intravenous 250 µg SST was performed in 87 women without known diseases or medications affecting the cortisol axis, 41 using OCs containing ethinylestradiol and 46 controls. Plasma cortisol was analyzed by Roche Elecsys Cortisol II assay and salivary cortisol and cortisone by LC-MS/MS in samples collected at baseline (time 0), and 30 and 60 minutes after Synacthen injection. The effect of OCs upon plasma cortisol, salivary cortisol and salivary cortisone was assessed by a two-way ANOVA with sampling time after SST as repeated measure. Results: There was an overall effect of OCs on plasma cortisol, but not on salivary cortisol or cortisone. Plasma cortisol levels were considerably higher in the OC group vs. controls at all time points; +150% at 0 minutes; +90% at 30 minutes; and +86% at 60 minutes. There was a significant interaction between OC use and sample time point for both salivary cortisol and cortisone. Mean salivary cortisol in women using OCs was 37% higher vs. controls at 0 minutes but was instead lower in the OCs group at 30 and 60 minutes after SST (-13% and -11%, respectively). Similarly, mean salivary cortisone was also slightly higher in the OC group than controls at baseline (+13%) and somewhat lower at 30 and 60 minutes (-6% and -7%). Conclusion: Plasma cortisol levels during an SST were significantly elevated in women using OCs containing estrogen whereas OC effects upon salivary cortisol and cortisone levels were modest, especially for salivary cortisone. Analysis of salivary cortisone is a promising alternative to plasma cortisol for diagnosis of AI in women using OCs.
Presentation: Saturday, June 17, 2023
SAT529 An Uncommon Case Report Of A Paraaortic Paraganglioma
Authors: Askar Esraa , Fredrick Jason Regis , Anantha Sandeep , Reddy Kalpana G 
Published: October 2023

Abstract
Disclosure: E. Askar: None. J.R. Fredrick: None. S. Anantha: None. K.G. Reddy: None.
Background: Extraadrenal pheochromocytomas, also known as paragangliomas are uncommon neuroendocrine tumors that develop from sympathetic ganglia chromaffin cells. These tumors rarely cause hypertension, in less than 0.2% of patients. Although pheochromocytomas are known to be secreting catecholamines, paragangliomas are less likely to be functional. Here we report a rare case of Catecholamine secreting Paraganglioma presenting with hypertension. Clinical Case: A 28 -year-old female with past medical history of Goldenhar syndrome presented to our outpatient institution complaining of headache, palpitations and high blood pressure measurements at home with systolic blood pressure ranging between 160-200 mm Hg for a few months prior to presentation. Her only medication was propranolol for hypertension. At presentation, blood pressure was 126/72 mm Hg, heart rate was 76 beats per minute. Physical examination revealed no significant findings. Abdominal exam did not reveal any palpable masses. The patient denied any history of substance, tobacco, or alcohol abuse. No family history was found for any similar masses or hypertension. Laboratory findings were significant for elevated normetanephrines at 785 pg/mL (18 to 111) with normal metanephrines level. CT abdomen was significant for 2.5 cm enhancing left paraaortic mass separate from kidneys and adrenal glands. The patient was started on doxazosin and propranolol was switched to atenolol. After her blood pressure was adequately controlled with the alpha and beta blockade, she was referred to a tertiary facility for excision of the mass. Robotic excision of the mass was performed successfully without any significant blood pressure variations noted intraoperatively. The diagnosis of a well differentiated extraadrenal pheochromocytoma was confirmed by pathology, and the patient was referred for outpatient genetic testing and endocrinology follow up. Conclusion: This is an extremely rare case of paraganglioma given its presentation and location of the mass. The previously reported paragangliomas usually present as ER visits with severe sympathetic symptoms but it is uncommon to present as an outpatient for secondary hypertension workup. In the literature, we have found case reports of catecholamine secreting paragangliomas which guided the management of this uncommon case as mentioned above. Clinicians must be aware of this rare presentation of paraganglioma in order to properly diagnose and manage the condition.References: https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-endocrine-tumor/paraganglioma
Presentation: Saturday, June 17, 2023
OR30-02 Salivary Cortisol Response To The High Dose ACTH Stimulation Test Provides A Reliable Alternative To Serum Cortisol Measurement In The Evaluation of Suspected Hypoadrenalism, And Is Unaffected By Cortisol-Binding Concentration
Authors: El-Farhan Nadia , Rees Seren , Tennant Sarah , Evans Carol , Rees Aled 
Published: October 2023

Abstract
Disclosure: N. El-Farhan: None. S. Rees: None. S. Tennant: None. C. Evans: None. A. Rees: None.
Context The serum total cortisol response to the ACTH stimulation test is widely used to assess adrenocortical function but is affected in conditions of altered cortisol-binding globulin (CBG) concentration. Salivary cortisol reflects free cortisol concentrations and may offer a reliable alternative. Objectives: 1. To establish the salivary cortisol response to the high dose ACTH stimulation test in healthy volunteers and in patients with altered CBG concentrations. 2. To evaluate the performance of a lower reference limit (LRL) determined in healthy volunteers in patients with suspected hypoadrenalism. Design: A high dose (250 µg) intravenous ACTH stimulation test was undertaken in 139 (60 male, 79 female) healthy volunteers, 24 women taking an oestradiol-containing oral contraceptive pill (OCP females), 10 patients with low serum protein concentration secondary to the nephrotic syndrome or liver cirrhosis (LP patients) and 29 patients with suspected hypoadrenalism (SH patients). Salivary cortisol was measured by liquid chromatography-tandem mass spectrometry. The mean and estimated LRL of the 30-minute salivary cortisol response to ACTH stimulation (mean - 1.96 SD) were derived from log-transformed concentrations. The LRL was subsequently applied as a diagnostic cut-off in SH patients. Results: CBG concentrations were 58 [42-81] mg/L), 64 mg/L [43-95], 41 [28-60] mg/L and116 [84-159] mg/L in male volunteers, female volunteers, LP patients and OCP females, respectively. The mean 30-minute salivary cortisol concentration was 19.3 [2.5th-97.5th percentile 10.3-36.2] nmol/l in healthy volunteers, with no difference between genders. Corresponding values were not different in OCP females (19.7 [9.5-41.2] nmol/l; p=0.59) and LP patients (19.0 [7.7-46.9] nmol/l; p=0.97), in contrast to 30-minute mean serum cortisol responses which differed between healthy female volunteers (555 [421-731] nmol/l) and OCP females (869 [649-1162] nmol/l; p&lt;0.001). Overall diagnostic agreement between 30-minute salivary and serum responses in patients undergoing evaluation for SH was high (79%). Conclusions: Salivary cortisol response to intravenous ACTH stimulation offers a reliable alternative to serum cortisol measurement in the assessment of patients with suspected hypoadrenalism and may be especially useful in conditions of altered CBG concentration.
Presentation: Sunday, June 18, 2023
THU398 Variants In The Vitamin D Receptor, 1alpha-hydroxylase Enzyme Genes In Cholecalciferol Therapy
Authors: Kalinchenko Svetlana , Vorslov Leonid , Shkeleva Tatyana , Kahn Alena , Samburskaya Olga 
Published: October 2023

Abstract
Disclosure: S. Kalinchenko: None. L. Vorslov: None. T. Shkeleva: None. A. Kahn: None. O. Samburskaya: None.
The administration of vitamin D drugs should be done with regard to genetic analysis of polymorphisms in the vitamin D receptor (VDR) and 1alpha-hydroxylase enzyme (CYP27B1) genes to select the required dose, form and activity of the drug. Materials and Methods: In the period from 10.10.2020 to 23.12.2022 there were 936 patients aged from 2 to 77 years on therapy with cholecalciferol, in whom vitamin D status was determined by calcidiol mass spectrometry and parathormone in blood. Patients were genotyped for two markers of susceptibility to vitamin D deficiency: variants in the vitamin D receptor gene (VDR, BsmI Polymorphism, rs1544410) and the 1-alpha hydroxylase enzyme gene (CYP27B1, g.57764205A&gt;G; rs4646536) by direct sequencing. Findings: Patients received therapy with cholecalciferol preparations. As a result, they were divided into 2 groups: the first group in which clinical effects of vitamin D deficiency compensation were achieved against the background of treatment, the second group in which, despite taking adequate selected doses, considering age, weight and degree of deficiency, laboratory criteria of vitamin D sufficiency were achieved, but clinical effects were not achieved. Genetic analysis showed that those patients in whom clinical symptoms of vitamin D deficiency were more severe and those in whom therapy with cholecalciferol did not produce the expected clinical effect had polymorphisms in the genes encoding VDR and/or 1alpha-hydroxylase enzyme. Discussion: In the presence of the CYP27B1 variant, g.57764205A&gt;G; rs4646536 in the gene encoding 1alpha-hydroxylase (86.5% of all patients, n = 809), calcitriol formation is reduced, which explains the lack of effect of cholecalciferol therapy. In the presence of the VDR variant, BsmI Polymorphism, rs1544410 in the gene encoding the vitamin D receptor, sensitivity of the receptor to hormone D is reduced (13% of all patients, n = 122), which explains the lack of clinical effects of therapy with vitamin D drugs in standard therapeutic doses. And the most difficult to treat clinical manifestations of vitamin D deficiency occur in patients with polymorphisms in the two genes encoding both VDR and 1alpha-hydroxylase, which constituted 11.3% (n = 106) according to our study among all those examined. Conclusion: Conflicting literature data and clinical effects in vitamin D therapy are due to variants in the VDR and/or CYP27B1 genes. Knowledge of genetics is the individualized dose, form, and activity of vitamin D medication as the key to success in therapy.
Presentation: Thursday, June 15, 2023
THU403 Fluoxetine Administration During The Peripartal Period And The Effect On Calcium Metabolism And Serotonin Signaling In The Mammary Gland
Authors: Fricke Hannah , Krajco Chandler J , Perry Molly J , Hernandez Laura L 
Published: October 2023

Abstract
Disclosure: H. Fricke: None. C.J. Krajco: None. M.J. Perry: None. L.L. Hernandez: None.
Postpartum depression affects an estimated 10 to 15% of the population. Selective serotonin reuptake inhibitors (SSRIs) are the most commonly prescribed class of antidepressants during pregnancy and lactation and are considered safe to use during pregnancy and lactation. During lactation, bone resorption is increased to mobilize calcium via a serotonin-dependent hormonal cascade. In the mammary gland, serotonin acts via the Hedgehog (Hh) signaling pathway to liberate calcium from bone for milk. Previously, our lab has determined that a high dose of the SSRI fluoxetine (FLX) during the peripartal period impacts calcium and serotonin metabolism during lactation. We hypothesize that a low dose of FLX during the peripartal period will upregulate Hh signaling and subsequently modulate calcium and serotonin metabolism during lactation, and that this impact will vary depending on whether FLX was administered during lactation only or throughout gestation and lactation. Female C57BL/6J mice were randomized to receive FLX (2 mg/kg) or saline daily via i.p. injection from parturition to the end of lactation (D21; lactation only), or from P0 to D21 (gestation + lactation), creating the following treatments: lactation saline (LS; n=10), lactation FLX (n=16), gestation + lactation saline (G+LS; n=5), and gestation + lactation FLX (G+LF; n=15). Circulating serotonin and calcium levels were measured in the serum at P0, the beginning of lactation (D2), and D21, and mammary glands were harvested at D21 for gene expression analysis. When normalized to P0 measurements, there were no differences in circulating calcium or serotonin levels between control and FLX groups at D2 or D21 when treated during lactation only, or gestation and lactation. However, G+LF mice tended to have a lower circulating serotonin level than G+LS mice on D21 (p=0.0770). At D21, gene expression of glioblastoma transcription factor 1 (GLI1) and sonic hedgehog (SHH), both members of the Hh signaling pathway, were altered in the G+LF group. There was a tendency for GLI1 expression to be increased in the G+LF dams (p=0.0634) and SHH was significantly increased in the G+LF dams (p=0.0382) when compared to the G+LS dams. These data suggest that a low dose of FLX during lactation only may not have a significant impact on calcium and serotonin metabolism via alterations in Hh signaling in the mammary gland but may be impacted when administered throughout the entire peripartal period.
Presentation: Thursday, June 15, 2023