bluuebunny/crossref_metadata_2025_split huggingface dataset:
FRI401 Co-creating Patient-facing Materials For Primary Ovarian Insufficiency
Authors: McDonald Isabella R , Blocker Elizabeth S , Weyman Elizabeth A , Welt Corrine K , Dwyer Andrew A 
Published: October 2023

Abstract
Disclosure: I.R. McDonald: None. E.S. Blocker: None. E.A. Weyman: None. C.K. Welt: None. A.A. Dwyer: None.
Evidence suggests people with POI have unmet health and information needs that contribute to impaired health-related quality of life (HR-QoL). Co-creation can produce high-quality patient-facing educational materials that respond to patient-identified needs and overcome healthcare disparities. Our goal was to co-create patient-facing materials that respond to unmet health and informational needs, mitigate health disparities, and improve HR-QoL for people with POI. The project had three sequential steps. First, we synthesized the state of the science on HR-QoL, care, and management of POI. Next, we conducted a systematic scoping review to identify “best practices” for co-creating patient-facing materials. Last, we employed co-creation best practices, patient engagement, and an iterative “design thinking” process to co-create and evaluate patient-facing POI materials. The HR-QoL scoping review identified three inter-related themes related to impaired HR-QoL in POI (diagnostic odyssey, isolation & stigma, and ego integrity) along with sub-themes of decreased sexual function, altered body image, psychological vulnerability and catastrophizing. The co-creation scoping review identified 6 best practices for co-creation: (1) begin with a review of the literature, (2) utilize a framework to inform the process, (3) involve clinical and patient experts from the beginning, (4) engage diverse perspectives, (5) ensure patients have the final decision, and (6) employ validated evaluation tools. Informed by the synthesis of care and management of POI, we partnered with patients to create concise patient-facing materials responding to unmet health and informational needs of people with POI. Patients engaged in co-creation using the “design thinking” process: empathize, define the question, ideate/brainstorm, iterate prototypes (n=4), and testing using the “gold standard” Patient Education Materials Assessment Tool (PEMAT). The final 2-page patient-facing materials were evaluated using 7 readability algorithms revealing a consensus reading level of 7th grade (i.e., fairly easy to read for an 11-13 year-old). The patient partners rated the materials as highly acceptable and actionable. The online PEMAT evaluation is underway in collaboration with POI patient organizations. We envision such co-creation will produce understandable and actionable materials (i.e., all PEMAT domain scores &gt;80%). This project may serve as a roadmap for healthcare organizations and patients to collaborate and surmount health disparities and improve care for other health conditions.
Presentation: Friday, June 16, 2023
SAT385 Pituitary Immune Cells Regulate Gonadotrope Hormone Secretion
Authors: Del Mundo Zena Marie , Nguyen Thu , Ujagar Naveena , Nicholas Dequina 
Published: October 2023

Abstract
Disclosure: Z. Del Mundo: None. T. Nguyen: None. N. Ujagar: None. D. Nicholas: None.
Polycystic ovary syndrome (PCOS) is one of the most common causes of female infertility in the US and is associated with a combination of reproductive neuroendocrine physiological changes. Previous studies have shown that PCOS patients have elevated serum C reactive peptide and lipopolysaccharide (LPS), which indicates chronic low-grade inflammation. However, it is unknown how inflammation or immune cells impact reproductive outcomes. In this project, I study how inflammation affects gonadotrope regulation of sex hormone secretion. I show that in vitro depletion of immune cells from dispersed primary mouse pituitary increases the luteinizing hormone (LH) to follicle-stimulating hormone (FSH) ratio. In contrast, immune activation through chronic LPS exposure in mice results in decreased serum LH to FSH ratio. Using single-cell RNA sequencing data from immune cell-enriched mouse pituitaries, I identified specific resident immune cell populations. These cell populations include macrophages with higher RNA expression of heat shock proteins in male mice compared to female mice suggesting inflammatory protection in males. Ongoing experiments include chronic LPS exposure in mice, where pituitary cells are immunophenotyped, sex hormone serum levels measured, and ovulation monitored. Ultimately this work will allow us to understand the contribution of inflammation to PCOS, with the hope of designing immunotherapy for PCOS.
Presentation Date: Saturday, June 17, 2023
SAT387 Impact Of Genetic Background On Chronic Inflammation In A Letrozole-induced Mouse Model Of PCOS
Authors: Ujagar Naveena , De Robles Gabriela , Velez Leandro , Seldin Marcus , Nicholas Dequina 
Published: October 2023

Abstract
Disclosure: N. Ujagar: None. G. De Robles: None. L. Velez: None. M. Seldin: None. D. Nicholas: None.
The etiology behind polycystic ovary syndrome (PCOS) is elusive due to the heterogeneity of its symptoms and varying severity in patients. There are a wide variety of factors associated with PCOS, like hyperinsulinemia, hyperandrogenism, endotoxemia and chronic inflammation that have been implicated as causal factors in the condition. However mechanisms of cause and effect are difficult to establish in human cohorts. Endotoxemia, observed in humans and mouse models of PCOS, is known to trigger chronic inflammation by activating immune cells. Although correlation of chronic inflammation with PCOS has been established, the type of inflammation in PCOS patients has not been defined, in part due to the genetic variance from person to person. Using a systems immunology approach to mimic human genetic diversity, combined with a letrozole-induced PCOS mouse model, we aim to distinguish the types of inflammation present in PCOS. We analyzed the immune cells from lymph nodes and spleens of 21 different strains of PCOS induced and control mice (130 mice in total), and found that based on genetic background the reproductive and metabolic phenotypes differed- similar to how PCOS presents clinically. Splenocytes from these control and PCOS mice were activated in vitro to trigger T cell and myeloid cell cytokine secretion, which was measured via luminex. Clustering analysis of these multi-analyte cytokine measurements together with flow cytometry of the immune cells allowed us to identify T-helper 17 (Th17) cells as the prominent immune cell driving inflammation in letrozole-induce mouse model of PCOS independent of genetic background. This systems immunology approach has allowed us to define PCOS associated inflammation and will be the basis for integrating human inflammation in PCOS with mouse models that appropriately recapitulate disease. The discovery of Th17 cells as key inflammatory mediators provide targets for understanding the mechanisms linking chronic inflammation to reproductive and metabolic outcomes in PCOS, and will assist in future development of anti-inflammatory therapies.
Presentation Date: Saturday, June 17, 2023
SAT389 Reproductive And Metabolic Characterization of Mice Overexpressing CYP17 in Ovarian Theca Cells
Authors: Joseph Serene , Ubba Vaibhave , DSilva Milan K , Wu Sheng 
Published: October 2023

Abstract
Disclosure: S. Joseph: None. V. Ubba: None. M. K DSilva: None. S. Wu: None.
Androgens, in physiological levels are important to normal ovarian function. However, excess androgens are detrimental to ovarian function, and is seen in PCOS, Congenital Adrenal Hyperplasia and Transgender Males undergoing testosterone therapy. Current models of androgen excess in females, mostly involve external administration of the causative agent. Hence, we developed an endogenous model of excess testosterone in female mice. To achieve this, a Triple mutant (TM) mouse was developed using the doxycycline inducible tet- on system, which involved RTTA, Cyp17 Cre and teto operator specifically inserted into CYP17 gene (purpose- double secure CYP17 specifically expressed in theca cells). These mice were fed with Doxycycline 625 mg/kg at 2 months of age. The TM mice showed significantly increased testosterone levels and Cyp17 protein expression in the ovaries. Estradiol, progesterone was unchanged. Reproductive characterization of the mice showed impaired estrous cyclicity and reduced fertility (number of pups and litters). Ovarian histology showed increased number of atretic follicles, with no changes in the number of developmental follicles and corpus leuteum. In the pituitary, mRNA expression of LHβ was significantly decreased, while GnRHR and FSHβ was unchanged. GnRH stimulation showed a decrease in LH levels in the TM mice. Immunoblotting showed increased expression of Androgen Receptor (Ar). Although increased androgens in females is associated with metabolic dysfunction, we did not observe any changes in Glucose, pyruvate and insulin tolerance in TM mice. Comprehensive Laboratory Animal Monitoring System (CLAMS) did not show any changes in the Respiratory Exchange Ratio, heat production and ambulatory movement. These studies show a unique strategy to develop an endogenous excess testosterone producing transgenic mice with decreased fertility.
Presentation Date: Saturday, June 17, 2023
FRI503 HCG-induced And Autoimmune Hyperthyroidism In A Male Patient With HCG Secreting Germ Cell Tumor
Authors: Mohamed Abubakr H B , Basina Marina 
Published: October 2023

Abstract
Disclosure: A.H. Mohamed: None. M. Basina: None.
Background: While Graves’ disease is the most common cause of hyperthyroidism, other rare causes include HCG secreting germ cell tumors. We describe a hyperthyroidism case with metastatic HCG secreting germ tumor and Graves’ disease. Case: 34 years old smoker male presented in 2016 with weakness and hypokalemia 2.7 mmol/L with concerns of paroxysmal periodic paralysis and was found to have hyperthyroidism consistent with Graves’ disease per work up (suppressed TSH &lt;0.01- uIU/ml (ref 0.27-4.2 uIU/ml), elevated FT4 4.08 ng/dl (ref 0.93-1.7 ng/dl), elevated Free T3 15.0 (ref 2.3 - 4.0 pg/ml), and (thyroid stimulating immunoglobulin (TSI) 354 (ref 0 - 139 %). He was started on methimazole 20 mg that he did not use and lost follow up. In May 2022, he presented with expressive aphasia and seizures along with 4 months of right scrotal swelling, generalized lymphadenopathy, and hemoptysis episodes. He had intermittent palpitations, 30 Ibs weight loss and eye bulging. On exam he was tachycardic 120 bpm, enlarged thyroid, brisk reflexes and mild tremors. His eye exam was significant for stare, lid lag, proptosis and bilateral lid edema. His labs were remarkable for suppressed TSH &lt;0.01 uIU/ml, FT4 &gt;7.7 ng/dl , Total T3 394 ng/dl (80 - 200 ng/dl)Thyrotropin receptor antibodies (TRAb) 29 IU/L (ref 0-1.75 IU/L), TSI 4.8 (ref &lt;1.3 index), Thyroglobulin Ab 5.8 IU/ml (ref &lt;4IU/ml), TPO-Ab &gt;900 (ref &lt;9.0) and HCG &gt;1,000,000 (ref &lt;2mIU/ml). Thyroid US showed diffuse heterogeneous enlargement of the thyroid with increased vascularity and without a discrete well-defined nodule. His lymphadenopathy work revealed high grade stage III C non-seminomatous mixed germ tumors (60% teratoma and 40% choriocarcinoma) with metastasis to brain, lungs, liver, spine, iliac and sacral bones. He was started on methimazole (MMI) 20 mg TID, propranolol 40 mg TID, dexamethasone 2 mg q6hrs and chemotherapy. His thyroid labs improved in 3 days to FT4 2.83 ng/dl and TT3 93 ng/dl while TSH and HCG were unchanged. He was discharged on MMI 25 mg daily. Over 3 months, he subsequently underwent right orchiectomy, cyber knife radiation of the brain metastatic lesions and 4 chemotherapy cycles. His HCG levels fluctuated (1,000,000-&gt;3980-&gt; 120,181) as well thyroid function test (TSH &lt;0.01-&gt; 5.1-&gt;0.01 uIU/ml, FT4 1.02-&gt;0.65-&gt;5.7 ng/dl and TSI 6.4 ). He required multiple methimazole adjustments. Discussion: Co-occurrence of HCG secreting germ tumors and Graves’ hyperthyroidism is rare. HCG can bind TSH receptors and in high levels has thyrotropic effects. The interplay between HCG thyrotropic effects and thyroid autoimmunity can be challenging and use of both binding and functional bioassays maybe helpful. Close thyroid function monitoring and frequent adjustment of thioamides are needed as patients undergo treatment of the primary HCG source as well as long term follow up.
Presentation: Friday, June 16, 2023
FRI190 Catching A Chimera: A Case Of Suspected Glucocorticoid Remediable Aldosteronism
Authors: Khan Aysha , Ramchandani Bhanvi , Aftab Hassaan B 
Published: October 2023

Abstract
Disclosure: A. Khan: None. B. Ramchandani: None. H.B. Aftab: None.
Introduction: Familial hyperaldosteronism type 1 (FH-I), also known as glucocorticoid remediable aldosteronism (GRA) is responsible for 1% of cases of primary aldosteronism (PA). It is caused by a chimeric fusion of the CYP11B2 and CYP11B1 genes resulting in ACTH-sensitive aldosterone production. We describe a case of suspected GRA and outline the diagnosis of this rare condition. Case. A 52-year-old female with history of type 2 diabetes mellitus, obesity, sleep apnea, SVT with ablation presented with long-standing history of resistant hypertension (HTN). HTN was diagnosed in her late twenties. She was previously trialed on eight different classes of antihypertensive medications excluding mineralocorticoid antagonists or potassium-sparing diuretics but HTN remained uncontrolled. Current regimen included hydralazine, nebivolol, and furosemide. Her sister had HTN diagnosed in her forties, a nephew with HTN diagnosed in his early twenties and mother with HTN with unclear age of diagnosis. Her systolic and diastolic BP averaged 150 mmHg and 90 mmHg, respectively, on both home and clinic monitoring. Physical examination was significant for mild cushingoid appearance. Screening tests for pheochromocytoma and hypercortisolism were normal. Plasma aldosterone concentration (PAC) was noted to be at 14.4 ng/dl (&lt;39.2) with a plasma renin activity (PRA) of &lt;0.6 ng/mL/h (2.9 - 10.8), with aldosterone to renin ratio (ARR) of 24. Repeat testing showed PAC of 15.1 ng/dl, PRA&lt;0.6 ng/ml/hr (ARR: 25.1) with potassium of 3.3 mmol/L (3.5 -5.1). PAC levels remained unsuppressed above 10 ng/dL following four-hour, seated, 2 L IV saline suppression test with serum potassium of 3.5 mmol/L. CT abdomen showed normal appearance of the adrenal glands. Given early age of onset of HTN and strong family history, 3-day dexamethasone test was performed using 1 mg oral dexamethasone every 12 hours following which PAC suppressed to &lt;1 ng/dl. Patient was started on spironolactone 25 mg twice daily and at the time of writing is awaiting genetic testing to confirm the diagnosis of GRA. Discussion: GRA is a rare subtype of PA which has an increased risk of cardiovascular and cerebrovascular complications. Our case highlights the importance of screening for GRA in patients who have a personal and/or family history of early onset HTN who have screened positive for PA. Genetic testing for chimeric CYP11B1/B2 gene is the confirmatory step of diagnosis, however, a 3-day dexamethasone suppression test can be used to screen for GRA with a high sensitivity. Elevated levels of urine 18-hydroxycortisol and 18-oxocortisol are also noted but these are not widely available tests. Treatment of GRA is with medical management only; since surgical intervention is not required; proper diagnosis can also save the patient from unnecessary and invasive tests such as adrenal vein sampling.
Presentation: Friday, June 16, 2023
FRI509 A Girl With Trisomy 21 Presents With Van Wyk-Grumbach Syndrome
Authors: Hayes Dorado Juan Pablo , Calla Ayala Marco Antonio , Arias Andrea Colque , Gaite Karem Lanuza , Lopez Marco Rossell , Frias Eid Daniela 
Published: October 2023

Abstract
Disclosure: J. Hayes dorado: None. M. Calla Ayala: None. A. Colque Arias: None. K. Lanuza Gaite: None. M. Rossell Lopez: None. D. Frias Eid: None.
Van Wyc-Grumbach syndrome (VWGS) is a rare presentation of long standing prepubertal hypothyroidism characterized by bilateral multicystic enlarged ovaries, vaginal bleeding and delayed bone age. It appeared that high TSH could produce FSH and LH like activity leading to multiple ovarian cysts. A 7-year-old girl with trisomy 21, presented with vaginal bleeding for 2 days prior to admission. Physical exam revealed bradycardia (68 bbm), apathy, sluggishness, as well as dry skin and eyelid oedema. She had no breast development nor pubic hair.Causes of vaginal bleeding such as trauma, possible abuse, foreign body insertion and urethral prolapse were excluded. There was no purpura or bleeding from other sites.The abdominal sonogram revealed bilateral ovarian cystic masses (V:17.29 cm3 and 16.48 cm3, right and left, respectively). Bone age was delayed almost 3 years behind her chronological age. Laboratory tests revealed TSH 860 μIU/mL, T4 0.71 μg/dL, FSH 8.12 mIU/mL, LH &lt; 0.1 mIU/mL, estradiol 193 pg/mL, thyroid peroxidase Abs 184 IU/mL, thyroglobulin Abs 212 IU/mL, Β-hCG &lt; 0.1mU/mL, confirming severe hypothyroidism. The girl was diagnosed with VWGS due to unrecognized chronic lymphocytic thyroiditis and LT4 treatment (75mug/OD) was initiated. The patient responded with complete remission of symptoms and regression of the ovarian cysts one month after initiation of treatment. It is very important to think of VWGS and investigate for thyroid status during the evaluation of ovarian cysts or isolated premature menarche. Early recognition can eliminate unnecessary surgery to remove ovarian cysts, as appropriate treatment with levothyroxine leads to complete remission of symptoms. Even when the diagnosis of VWGS is confirmed, practitioners must be watchful to consider surgical intervention in the presence of uncontrolled vaginal bleeding, hemodynamic instability, or failure of regression of ovarian cysts with exogenous thyroid hormone replacement.
Presentation: Friday, June 16, 2023
FRI513 Pathological Bone Fracture In An Adolescent With Graves’ Disease
Authors: Hayes Dorado Juan Pablo , Calla Ayala Marco Antonio , Sejas Daniela Vargas , Tapia Emilene Coca , Vargas Gerben Justiniano , Arze Francisco Leon 
Published: October 2023

Abstract
Disclosure: J. Hayes dorado: None. M. Calla Ayala: None. D. Vargas Sejas: None. E. Coca Tapia: None. G. Justiniano Vargas: None. F. Leon Arze: None.
Graves’ disease is the most common pediatric cause of hyperthyroidism. Although hyperthyroidism has been reported to cause a decrease in bone mineral density (BMD), its association with bone fractures is rare. A 12-year-old female patient presented to emergency with left arm pain that started after collision with an electricity pole. Her medical history included fractured right femur one year previously. Her heart rate 128 beats/min, blood pressure 120/70 mm Hg, weight 44 kg, height 156 cm (75th percentile) and BMI 18 kg/m2(50th percentile). Family history was unremarkable. He had prominent thyromegaly with diffuse enlargement and soft consistency on palpation. X-ray revealed a fracture of left humerus. Demineralization of bone was detected. Blood Tests: calcium 8.9 mg/dL (8.5-10.5); phosphate 4.36 mg/dL (3.7-5.6); alkaline phosphatase 239 U/L (42-362); PTH 23 pg/mL (12-88); 25-OHD 22.8 ng/mL (20-80); TSH &lt;0.01 μIU/mL (0.38-5.33); fT3 29 pg/mL (2.6-4.37); and fT4 5.13 ng/dL (0.61-1.2). Auto-antibodies were positive: thyroid peroxidase Abs 42 IU/mL (0-9), thyroglobulin Abs 21 IU/mL (0-4) and TSH Receptor Abs 7.33 IU/L (0-0.1). Complete blood count, liver, kidney function tests were normal. Thyroid ultrasonography showed a significant increase in thyroid gland volume and vascularization. A diagnosis of Graves’ disease was confirmed. Methimazole, propranolol, calcium and vitamin D therapies were started. Pre-treatment bone densitometry showed significantly low BMD: lumbar BMD (L1-L4) was 0.701 g/cm2 (Z-score - 2) and femoral BMD was 0.639 g/cm2 (Z-score -2). Euthyroidism was achieved after ten weeks of treatment and clinical signs of hyperthyroidism had improved. At six months follow up there were no clinical signs of hyperthyroidism and the patient remained euthyroid. Bone densitometry investigation one year after diagnosis showed marked improvement: lumbar BMD (L1-L4) was 0.898 g/cm2 (Z-score -0.5) and femoral BMD was 0.799 g/cm2 (Z-score -0.4). Untreated adolescents with Graves’ disease may present with fractures. It highlights the importance of considering hyperthyroidism as a possible diagnosis among the differential diagnoses of pathological bone fractures.
Presentation: Friday, June 16, 2023
FRI559 An Uncommon Association Of Two Common Etiologies Of Hyperthyroidism
Authors: Kian Chew Chee 
Published: October 2023

Abstract
Disclosure: C. Chew: None.
Introduction: Subacute thyroiditis and Graves’ disease are two common etiologies of hyperthyroidism. Association of these two diseases in patient presented with recurrent hyperthyroidism has rarely been reported. Case Report: A 35 years old women, with no known medical illness, was referred to Endocrine Clinic for painful anterior neck swelling associated with palpitation for 2 weeks. The symptoms were preceded by 3 days history of sore throat and mild fever She denied other symptoms of hyperthyroidism. Her last menses was 3 weeks prior. On physical examination, she was tachycardic with heart rate of 115 beats per minute. Her blood pressure was 135/90 mmHg and she was afebrile. There was a tender and diffusely enlarged goiter. However, there were no signs of thyroid eye disease and other signs of hyperthyroidism. Examinations of her throat, lung, abdomen, cardiovascular system and neurological system were unremarkable. There was also absence of lymphadenopathy. She denied family history of thyroid disease. Results of laboratory investigations were suggestive of hyperthyroidism secondary to subacute thyroiditis: Free T4 52 pmol/L (8-16), TSH &lt;0.01 mIU/L (0.45-4.50), TRAb 0.8 IU/L (0-1.0) and ESR 108 mm/hr (1-10). The technetium scan showed mildly enlarged gland with decreased uptake of Tc-99m tracer suggestive of thyroiditis. She was treated with Ibuprofen and Propranolol, and her symptoms improved. At 6 weeks follow up, her thyroid function normalized with Free T4 of 13 pmol/L (8-16), TSH of 1.28 mIU/L (0.45-4.50). However, she complained of weight loss and palpitation at 6 months follow up. Examination revealed a small painless diffuse goiter and she was tachycardic with heart rate of 115 beats per minute. Thyroid function test confirmed recurrence of hyperthyroidism: free T4 45.8 pmol/L (8-16) and TSH &lt;0.01 mIU/L (0.45-4.50). Elevated TSH receptor antibody (TRAb) level at 16.8 IU/L confirmed the diagnosis of Graves’ disease. Carbimazole was then started. Discussion: Subacute thyroiditis and Graves’ disease are two common etiologies of hyperthyroidism. The incidence of association of these two diseases had been reported to be rare at 0.15% in patients with Graves’ disease and 0.76% in patients with subacute thyroiditis (1). The postulated mechanism of the association is that the release of thyroid antigens and corresponding activation of the immune system due to viral invasion of the thyroid gland in subacute thyroiditis may cause the subsequent Graves’ disease (1,2). Conclusion: Graves’ disease should be suspected in patient with persistent or recurrent hyperthyroidism after an episode of subacute thyroiditis although it is rare. Reference:
1. Nakano Y et al. Graves’ disease following subacute thyroiditis. Tohoku J. Exp. Med. 2011; 225:301-309.
2. Bartalena L et al. Graves’ disease occurring after subacute thyroiditis. Report of a case and review of the literature. Thyroid. 1996; 4:345-348.
Presentation: Friday, June 16, 2023