bluuebunny/crossref_metadata_2025_split huggingface dataset:
SUN-206 A Rare Case of Untreated Congenital Adrenal Hyperplasia Leading to Gender Dysphoria and a Female to Male Transgender
Authors: Awad Dana , Win Htet Htet , Zena Mohsen 
Published: May 2020

Abstract
Background: CAH is a common genetic disorder usually diagnosed in early childhood. However, when it is detected in adulthood, different approach and treatment strategies need to be undergone as their needs are generally different from those of children with CAH.
Case presentation: A 49-year-old male with a past medical history of recurrent urinary tract infections was admitted to the hospital with sepsis and was treated with antibiotics. CT abdomen during admission showed an incidental finding of markedly enlarged bilateral adrenal hyperplasia with an 8x5.5x5.8 cm left adrenal mass, as well as two ovaries and a uterus. Upon further history, the patient said he knew that he was born with abnormal genitalia and had a prolonged stay in the hospital immediately after birth and had surgery of his genitals at the age of six months. He was always told by his family that he is a female, although he never felt it, and he continued to identify himself as a male throughout his life.
He only had one menstrual period at the age of thirteen. He participates in sexual activities as a male but was never able to have a normal sex life. He also gave a history of salt cravings, where he consumes dry salt. He was not taking any home medications.
On examination, the patient had a male voice, a beard, male body hair distribution, no breast. The genital exam revealed labia majora, no labia minora. The rest of his examination was unremarkable.
Work up for CAH revealed normal range plasma metanephrines and DHEA. But ACTH, androstenedione, 17-OH progesterone were all elevated (90.4 pg/ml, 2737 ng/dl, and 24191 ng/dl respectively) and levels were all higher after Cosyntropin stimulation test. He was found to have primary adrenal insufficiency with a maximum cortisol level of 13.3 mcg/dl after the stimulation test.
He was started on oral Hydrocortisone and was closely followed by endocrine after discharge where long-term treatment plans were discussed and our patient decided that he wants to continue his life as a male, and was evaluated by Urology as well as OBGYN for left adrenalectomy and hysterectomy with bilateral Salpingo-Oophorectomy that was successfully performed a month later. Pathology of his left adrenals showed adrenocortical hyperplasia without evidence of malignancy. Patient was educated about lifelong corticosteroid treatment and that he would need to start testosterone replacement therapy to keep his male characteristics.
Conclusion: When children with CAH lose follow up and don’t receive treatment early in life, they can develop gender dysphoria, and their approach as adults become more challenging and it needs a multidisciplinary team to treat, address their needs and detect complications of prolonged adrenal stimulation. Additional research to the natural history and optimal interventions is needed to improve outcomes as these cases are not encountered frequently in clinical practice.
SAT-386 Inconsistent Bilateral Arm Serum PTH Testing in Recurrent Hyperparathyroidism in a Patient Status-Post Parathyroid Auto-Transplantation
Authors: Jenkins Craig , Kemm Matthew , Jenkins Lydia 
Published: May 2020

Abstract
Background: More than 95% of patients with primary hyperparathyroidism will be cured with the initial operation by an experienced surgeon. However, localization of hyperparathyroid recurrences, especially after extensive surgery becomes challenging. For patients with transplanted parathyroid glands into the forearm, there may be utility in bilateral arm serum PTH testing to help with localization.
Clinical Case:
A 65-year-old woman presented to the clinic with primary hyperparathyroidism in 2008. After a localization study, she had a partial parathyroidectomy but continued to have persistent biochemical hyperparathyroidism despite negative localization studies. She was then referred to another institution for further studies. Follow up Sestamibi scans were negative but 4D-CT scans assisted in localizing the presence of a superior parathyroid gland adenoma which was later removed in 2011. During this time, the left inferior parathyroid gland was auto-transplanted into the left forearm. Again, her calcium and PTH levels rose despite negative Sestamibi scans showing no abnormalities in post-operative beds or in the forearm. Review of previous labs revealed elevated PTH levels in the ranges of 80-110 pg/mL since 2012-2019. The patient’s most recent PTH was 2408 pg/mL. At that point, the decision was made to repeat the labs on the left and right forearms simultaneously and labs showed PTH levels of 1283 pg/mL and 118 pg/mL, respectively. Repeat Sestamibi scan following these labs demonstrated evidence of increased radiotracer uptake in the region of the prior transplanted parathyroid tissue with no neck uptake concerning for hyperparathyroidism due to auto-transplanted hyperplastic tissue.
Conclusion:
This case demonstrates the utility of bilateral arm serum PTH testing in the evaluation of recurrent hyperparathyroidism in patient’s status-post parathyroid auto-transplantation.
MON-160 The Burdens of Adrenal Insufficiency: A Survey Study from Two Tertiary Care Centers in the United States
Authors: Genere Natalia , Li Dingfeng , Xhikola Majlinda , Behnken Emma , Abbondanza Tiffany , Vaidya Anand , Bancos Irina 
Published: May 2020

Abstract
Background: Adrenal insufficiency (AI) is a chronic disorder necessitating life-long replacement. Patients’ quality of life and health outcomes depend on knowledge and comfort level with self-management.
Objective: To determine patients’ knowledge in regards to diagnosis and management, estimate burden of disease and to identify predictors of adverse outcomes in patients with AI
Methods: Survey study of patients with AI evaluated at two tertiary medical centers between 2015 and 2019. Collected variables included data on circumstances of AI diagnosis, symptoms, management, burden of disease, and overall well-being.
Results: Among 785 patients (mean age at diagnosis 44.2 ± 18.0, 64% women, and 92% Caucasian), 310 (40%) had primary AI (PAI), 255 (33%) had secondary AI (SAI) not related to glucocorticoid use, and 211 (27%) had steroid-induced AI (SIAI). Patients were diagnosed with AI after presenting with symptoms for a median of 1 year (0-6), 28% with symptoms lasting &gt;2 years, 44% visiting emergency room (ER) at least once prior to diagnosis. A third of patients reported a discordant diagnosis from their medical record.
Baseline glucocorticoid replacement therapy included hydrocortisone (HC) in 447 (59%), median of 20 mg (IQR 15 - 25mg), prednisone in 190 (25%), median of 5 mg (IQR 4 - 7.5mg), other regimens in 38 (5%), and no steroids in the remainder (85, 11%); 197 (26%) patients reported daily equivalent HC dose of &gt;25 mg. Overall, 549 (73%) of patients reported use of stress dose steroids at least once per year, higher in patients taking HC &gt;25 mg/day (3.2 vs 2.7 times per year if HC&lt;25mg/day, p=0.01). Improper use of stress steroids was reported in 193, 25% patients. Patients taking HC&gt;25 mg /day reported a higher number of adrenal crises (1.6 vs 1.3 in patients on HC&lt;25 mg/day, p=0.04). Among 314 (41%) patients who reported ER visits due to adrenal crisis, only a third received prompt glucocorticoids.
One third of patients described their general health as fair or poor. Predictors of negative perceptions of overall health included SIAI (OR 6.2 and 2.5, vs PAI and SAI respectively), poor understanding of diagnosis (OR 2.6), daily HC&gt;25 mg (OR 2.1), and presence of at least one adrenal crisis (OR 2.3) (p&lt;0.001 for all).
Conclusion: Patients with AI experience delay in diagnosis, and a third do not fully understand their diagnosis. In addition to patient education, interventions to improve general health and outcomes may include selecting a physiological glucocorticoid replacement therapy, prevention of adrenal crisis, and improving ER care.
SUN-607 Iron Parameters in Patients with Partial Lipodystrophy and Impact of Metreleptin Therapy
Authors: Boutros Sabine , Akinci Efe Yagiz , Ryan Benjamin , Sargin Pinar , Akinci Baris , Swaidan Mario , Neidert Adam , Hench Rita , Horowitz Jeffrey , Oral Elif A 
Published: May 2020

Abstract
Introduction Intriguing rodent studies and epidemiological data suggest that iron metabolism and adipocytokines crosstalk to regulate glucose metabolism and fuel storage. Iron parameters have not been previously studied in patients with lipodystrophy whereas increased iron stores have been associated with type 2 diabetes. In this study, we sought to investigate the status of iron parameters in patients with partial lipodystrophy (PL) and to interrogate whether the adipocyte hormone leptin can modulate iron metabolism. Methods Serum samples of 19 patients with PL (age: 42, IQR: 34-57, M/F: 3/16) were used from an open-label study previously performed at the University of Michigan evaluating the efficacy of metreleptin in nonalcoholic steatohepatitis (NCT01679197) to measure ferritin, hepcidin, iron, and transferrin soluble receptor levels. High-sensitivity C-reactive protein (hs-CRP) levels were also determined as broader changes in inflammatory pathways may potentially impact circulating ferritin levels. Results were integrated into an existing database of metabolic parameters. Data are presented as median, IQR. Results At baseline, ferritin levels were positively correlated with fasting glucose (r = 0.533; p = 0.023) and HbA1c (r = 0.510; p = 0.031). During the 6 months of therapy period, HbA1c (9.2%, 7.3-10.3 vs. month-3: 8.6%, 7.7-9.6; p = 0.099; and month-6: 8.5%, 6.8-9.5; p = 0.264), triglyceride levels (346 mg/dL, 240-1771 vs. month-3: 346 mg/dl, 237-479; p = 0.047; and month-6: 295 mg/dl, 207-495; p = 0.091), and hepatic fat (12.7%, 9.8-20.6 vs. month-6: 8.9%, 7.0-11.0; p = 0.031)} decreased. Reductions were observed in serum ferritin after metreleptin treatment (83.23 ng/mL, 76.43-178.97 vs. month-3: 73.79 ng/ml, 68.30-78.59; p = 0.007; and month-6: 61.03 ng/mL, 46.45-157.74; p = 0.004). There was a tendency for hepcidin and iron to be decreased, but this did not reach statistical significance. On the other hand, there were notable reductions in hs-CRP levels at 6 months compared to baseline (2.94 mg/L, 1.30-4.80 vs. 1.6 mg/L, 1.00-6.30; p = 0.012). Baseline leptin level was inversely correlated with percent reduction in hs-CRP at month-6 (r = -0.685; p = 0.001). Also, modest correlations were observed between changes in serum iron and triglycerides (r = 0.491, p = 0.033) and hepatic fat (r = 0.412, p = 0.079). Conclusions We observed a significant relationship between ferritin and glucose control in a group of patients with PL. Metreleptin therapy was associated with improvements in triglycerides and hepatic fat and there were also significant decreases in ferritin and hs-CRP levels. These results raise the possibility that metreleptin therapy influences iron metabolism. However, whether the decrease in ferritin indicates a decrease in iron stores or is mediated by an effect on inflammation remains unknown.
MON-207 Validating and Optimizing the Guideline Criterion for Skipping Confirmatory Tests of Primary Aldosteronism
Authors: Hu Jinbo , Wang Kanran , Yang Shumin , Li Qifu 
Published: May 2020

Abstract
Abstract
Background: Confirmatory tests of primary aldosteronism (PA), including saline infusion test (SIT), captopril challenge test (CCT) and fludrocortisone suppression test (FST), are recommended by the Endocrine Society Clinical Practice Guideline. In order to simplifying diagnostic process, a criterion for skipping confirmatory tests was established by the guideline, while the evidence is lacking.
Objective: To validate and optimize the guideline criterion for skipping confirmatory tests.
Design: Prospective diagnostic study.
Setting: Chongqing, China.
Measurements: A total of 501 patients with high risk of PA were retrospectively enrolled. All of them completed at least two confirmatory tests (CCT, SIT, and FST). The guideline criterion is: history of spontaneous hypokalemia, plasma renin concentration (PRC) below detection levels and plasma aldosterone (PAC)&gt;20ng/dl (550pmol/L). An optimized criterion (history of spontaneous hypokalemia, PRC &lt;2.5 uIU/ml and PAC&gt;20 ng/dl) was established based on the guideline criterion. Parameters such as sensitivity, specificity and area under the receiver-operator characteristic curves (AUC) were calculated to compare the diagnostic value of these two criteria.
Results: Using SIT, CCT and FST (cutoffs: PAC post-SIT 10 ng·dl-1; PAC post-CCT 11 ng·dl-1; PAC post-FST 6 ng·dl-1) for PA diagnosis, the specificity of the guideline criterion was 1.00 (0.98–1.00), 1.00(0.98–1.00) and 1.00(0.97–1.00) respectively, while the sensitivity was 0.12 (0.09–0.17), 0.12(0.08–0.16) and 0.09(0.06–0.12) respectively. Compared to the guideline criterion, the sensitivity of the optimized criterion was significantly improved [SIT: 0.42 (0.36–0.49); CCT: 0.41 (0.35–0.48); FST: 0.30 (0.25–0.34), all the P values &lt; 0.001 when compared to the guideline criterion]. However, the specificity of the optimized criterion was similar to the guideline criterion (all the P values&gt;0.05).
Limitation: This study was carried out in a single center.
Conclusions: The guideline criterion shows high specificity but low sensitivity for direct diagnosis of PA. The optimized criterion has greatly improved the sensitivity and may be more suitable for skipping confirmatory tests of PA.
MON-171 Characterization of the Adrenal Gland and Adrenal Rest Tissues in Congenital Adrenal Hyperplasia
Authors: Kolli Vipula , Werneck Isabela , Kim SunA , Mallappa Ashwini , Gaynor Alison , Quezado Martha , Merke Deborah P 
Published: May 2020

Abstract
Background: Adrenonodular hyperplasia and tumor formation are common long-term complications of congenital adrenal hyperplasia (CAH) driven by chronic ACTH elevation. Clinical studies indicate that the majority of males with classic CAH have testicular adrenal rest tumors (TART). Ovarian adrenal rest tumors (OART) are less commonly observed. Little is known about the pathophysiology of adrenal rest, however both adrenal cortex and Leydig cell markers have been described in TART, suggesting a pluripotent embryological cell origin.
Objective: To characterize adrenals and adrenal rest tissues of patients with CAH in comparison with normal tissues.
Materials and Methods: Using immunohistochemistry (IHC) and, real-time qRT-PCR we investigated CAH-affected adrenals (n=5), adrenal rest tissues (n=2; 1 testicular, 1 ovarian), controls [normal adrenal (n=2), testis (n=1), and ovary (n=1)]. Tissue sections prepared from paraffin embedded tissue blocks were immunostained with adrenal [melanocortin 2 receptor (MC2R), delta-like homolog 1 (DLK-1), steroidogenic factor 1 (SF-1), steroidogenic acute regulatory protein (StAR) and other cytochrome P450 genes], inflammatory [interleukin 2 receptor (IL-2R), B-lymphocyte antigen (CD20), cluster of differentiation 3 (CD3), tumor necrosis factor alpha (TNFα), interleukin 6 (IL6)], and gonadal markers [progesterone receptor (PR), androgen receptor (AR), insulin-like 3 (INSL3)]. RNA was isolated and gene expression studies were performed. High-throughput RNA sequencing technology was used to analyze the differential transcriptome profiles between the CAH adrenals, adrenal rest and normal tissues.
Results:
In contrast to the controls, CAH adrenals and adrenal rest tissues showed the following:
(i) IHC studies revealed 95% of tissue positive for adrenal zona-reticularis; (ii) significant nodular lymphocytic infiltration with a predominance of B and T lymphocytes and overexpression of lymphocyte markers IL-2R, CD20, CD3, and inflammatory cytokines TNFα and IL6; (iii) increased expression of adrenocortical specific genes MC2R, DLK1.
Conclusion: CAH-affected adrenals and adrenal rest tissue have similar predominance of zona reticularis and demonstrate lymphocytic infiltration. Active inflammation may play a role in the abnormal development of adrenal and adrenal rest tissue in CAH patients.
OR09-03 Brain Aromatase Is Essential for Regulation of Sexual Activity in Male Mice
Authors: Brooks David C , Zhao Hong , Coon V John , Ercan C Mutlu , Dong Hongxin , Levine Jon E , Bulun Serdar Ekrem 
Published: May 2020

Abstract
Introduction: The biologically active form of estrogen, estradiol (E2), has important organizational roles in brain development and activational roles in adult brain physiology and behavior. It has been proposed that E2 formation in the brain might regulate sexual activity in various species. The mechanisms that link estrogen formation in the brain and sexual behavior, however, remain unclear. Aromatase is the key enzyme that catalyzes the conversion of testosterone (T) to E2 in the testis and brain of male mice. To determine the role of brain aromatase in male sexual activity, we generated a brain-specific aromatase knockout (bArKO) mouse model. Additionally, a newly generated total aromatase knockout (tArKO) mouse model served as a positive control. Methods: We generated the floxed aromatase mice (Aromfl/fl), which flanked the transcription and translation start sites and the common splice acceptor site for the upstream brain promoter I.f of the aromatase gene. We then crossed Nestin-Cre mice with Aromfl/fl mice to generate bArKO mice. Using the same Aromfl/fl mice, we bred tArKO via crossing with ZP3-Cre mice. Circulating and tissue (brain and testis) E2 levels were measured using liquid chromatography-tandem mass spectrometry. We assessed sexual activity in 12-14 week-old bArKO, tArKO and littermate control males over two 30-minute trials. The interactions were monitored and videotaped, and the videotape was scored for the sexual activity. To investigate whether the lack of estrogen production in the brain was causative for altered sexual behavior, 20 bArKO and 20 control mice were castrated at ~nine weeks of age and supplemented with exogenous sex hormone via 60-day time release pellet implantation. Results: E2 levels are significantly decreased in the brain but not the testis of bArKO mice as compared to control mice (P &lt; 0.05, n=6-12). As expected, E2 levels in the brain and testis are significantly lower in tArKO mice compared with their WT littermates (n=6-9). Furthermore, we demonstrate that local aromatase expression and estrogen production in the brain is required for male sexual behavior and sex hormone homeostasis. Male bArKO mice exhibited significantly decreased sexual activity in the presence of strikingly elevated circulating T (n=5). In castrated adult bArKO mice, administration of E2 together with T restored maximum sexual behavior (n=5). Thus, aromatase in the brain is necessary for T-dependent male sexual activity. We also found that brain aromatase is required for negative feedback regulation of circulating T of testicular origin. Conclusion: Our findings suggest T activates male sexual behavior in part via conversion to E2 in the brain and provide the foundation for inhibition or enhancement of brain aromatase enzyme activity and/or utilization of selective estrogen receptor modulators in modifying sexual behavior.
DCB and HZ contributed equally to this work.
SUN-650 Body Composition Assessment in Clinical Practice: Use in Rheumatoid Arthritis and Hypogonadism
Authors: da Silva Marina Sousa , Borges Joao Lindolfo 
Published: May 2020

Abstract
BACKGROUND: DXA is an accessible, non-invasive method, also used for body composition assessment, standing out for regional composition analysis. In clinical practice, the analysis of body composition is relevant by differentiating lean (fat-free) mass from fat mass. The higher the fat to lean mass ratio, the greater the obesity-related comorbidities.
CLINICAL CASE:
Case 1: A 22-year-old male, BMI 21kg/m2, with rheumatoid arthritis (RA) and on chronic glucocorticoid (GC) performed a DXA to evaluated body composition. The first analysis, during GC use, showed 26.1% fat (14.6kg) despite the low BMI. The patient, evolved stable from RA, and was able to stay out of GC for 2 years, with no other interventions. A new DXA showed a decrease in fat percentage to 12.6% (6.2kg), a reduction in total body weight (-7kg) and an increase in lean mass (+1.2kg). Within 16 months of GC reintroduction, the fat percentage increased up to 36.8% (23.8kg), the total weight increased by 15.6kg and the lean mass decreased by 2.1kg.
Case 2: A 40-year-old male with hypogonadism showed 37% fat (33.8kg) on ​​first DXA evaluation. Testosterone replacement was started, and a new DXA was performed after 10 weeks, and although the total weight increased by 3.1kg, there was a decrease in fat mass to 33.5% (31.6kg) and an increase of 5.3kg in lean mass. After 3 years, there was a reduction to 27.1% of fat (24.5kg) and, after 4 years of therapy initiation, the percentage of fat was 26.9% (24.5kg). There was no change in diet or exercise.
CONCLUSION:
The exposed cases highlight the importance of body composition assessment in patients with conditions that interferes with energy metabolism. The patient on chronic GC use, after medication withdrawal, presented a significant decrease in fat mass, more pronounced in the android percentage. The reintroduction of the CG showed an increase in fat percentage, with android predominance. The patient with hypogonadism, in the second evaluation performed with only 10 weeks of treatment with testosterone, evolved with a reduction in fat mass associated with an increase in lean mass, besides a reduction in the android percentage.
The reported cases illustrate everyday clinical situations in which disease vs. treatment significantly changes body composition. Assessment of body composition is essential in patients exposed to conditions that interfere with energy metabolism since obesity is associated with chronic comorbidities and cardiovascular outcomes.