bluuebunny/crossref_metadata_2025_split huggingface dataset:
THU431 An Interesting Case Of Severe Osteoporosis In A Young Male
Authors: Bilbatua Martha , Deshmukh Mrunalini 
Published: October 2023

Abstract
Disclosure: M. Bilbatua: None. M. Deshmukh: None.
Background: Systemic Mastocytosis is a rare disorder in which Osteoporosis is seen in about 24% of cases. We describe a rare case of Secondary Osteoporosis in a young man caused by Systemic Mastocytosis. Case presentation: A 32-year-old male with no significant medical history was seen by Endocrinology for evaluation of Osteoporosis. Symptoms started after two episodes of falls which caused persistent pain. A CT scan of thoracic spine revealed chronic anterior wedge compression fracture of T5, T7 and T10 with approximately 5-10% loss of height. DEXA scan demonstrated T-score of -4.2 at L1-L4, T-score of -2.3 at left hip suggestive of severe Osteoporosis. The patient admitted to generalized flushing and itching after taking hot showers as well as intermittent episodes of palpitations. The patient was started on Calcitonin nasal spray daily for pain related to vertebral fracture. Testing for secondary causes of Osteoporosis showed a Total testosterone 410 ng/dL (250-1,100 ng/dL), PTH 16 pg/mL (16 - 77 pg/mL), TSH 1.88 mIU/L (0.40 - 4.50 mIU/L), Phosphorus 4.1 mg/dL (2.5 - 4.5 mg/dL), Magnesium 2 mg/dL (1.5 - 2.5 mg/dL), Alkaline phosphatase 66 U/L (36 - 130 U/L), Vitamin D 25 ng/mL (30 - 100 ng/mL), Calcium 9.3 mg/dL (8.6 - 10.3 mg/dL), Tryptase 64 mcg/L (&lt;11.0 mcg/L), 5-HIAA 24H Ur mg/24H 3 (&lt;=6.0 mg/24 h). Based on this, the patient was seen by Hematology/Oncology for evaluation on elevated tryptase levels. Bone marrow biopsy and aspirate was performed, demonstrating 20% Mast cells positive for CD 117, CD 25, patient was diagnosed with Mastocytosis and treatment with Midostaurin 100 mg PO twice daily and Zometa every 12 weeks was initiated. Improvement of Tryptase was noted within two months of treatment. Discussion: Systemic Mastocytosis is a rare disease often complicated by Osteoporosis of which around 37% of the patients will develop Osteoporotic fractures where Bisphosphonates are effective and have a role in the associated refractory bone pain. The pathophysiological mechanisms leading to osteoporosis in Systemic Mastocytosis are not well understood. Although rare, back pain secondary to osteoporotic vertebral fractures is often the major presenting symptom of Mastocytosis and it should be included in the differential diagnosis of idiopathic osteoporosis due to its significant morbidity.
Presentation: Thursday, June 15, 2023
THU437 Oral Ulcers As A Clue To Bone Fragility
Authors: Sridhar Sushrutha , Krug Esther Irina 
Published: October 2023

Abstract
Disclosure: S. Sridhar: None. E.I. Krug: None.
Introduction: Metabolic bone disease is common in celiac disease (CD) and can occur in patients without gastrointestinal symptoms. Successful treatment of malabsorption is associated with amelioration of bone loss. Recurrent aphthous stomatitis (RAS) may be the sole manifestation of CD (1). According to American College of Gastroenterology Guidelines, tissue transglutaminase (tTG)-IgA antibody and total IgA level is the single preferred test for detection of CD in adults due to reported sensitivity of 90-98% and specificity of 95-97%. No additional testing is typically recommended for patients without IgA deficiency (2). Case: The patient is a 58 year old woman with past medical history of RAS treated with prednisone, 5 mg daily for 10 years, facial and ocular rosacea, menopause at age 49, asthma, chronic back and neck pain, history of spontaneous rib fracture and L4 compression fractures during chiropractic manipulation, who had progressive bone loss despite ongoing treatment with oral bisphosphonates, calcium and vitamin D supplementation for 4 years with good adherence, and was referred for endocrine evaluation. Laboratory studies revealed TSH 1.94 mIU/L (0.4-4.5), 25(OH)vit D 41 ng/mL (30-100 ng/mL), PTH 31 pg/mL (14-64), Ca 9. mg/dL (8.6-10.4), albumin 4.1 mg/dL (3.6-5.1), Mg 2.1 mg/dL (1.5-2.5), tTG-IgA 1 U/mL (&lt;4), total IgA 190 mg/dL (47-310), Gliadin deamidated peptide IgA Ab 11 Units (&lt;20), Gliadin deamidated peptide IgG Ab (DGP-IgG) 44 Units (&lt;20). Duodenal biopsy revealed diffuse increase in intraepithelial lymphocytes, acute and chronic inflammation of lamina propria, focally marked villous blunting consistent with CD. The patient reported complete resolution of RAS and rosacea symptoms within one month of starting a strict gluten free diet. She also noted marked improvement in neck and back pain. After 6 months repeat DGP-IgG was 13 Units. Treatment with teriparatide of 12 months duration resulted in 12.1% and 5.4% gain in bone density of lumbar spine and total hip respectively. Conclusion: CD should be suspected in patients with osteoporosis and extraintestinal conditions including RAS and, possibly, rosacea. CD has been reported in 2.83% of 247 patients with RAS screened for (tTG)-IgA and anti-endomysial IgA Abs (2). Rosacea has also been linked to CD in one study (3). Our case suggests that patients presenting with RAS may need to be tested for DGP-IgG reported to have a sensitivity of 92% and specificity of 100%, regardless of total IgA level. References:
Shakeri R et al. Gluten sensitivity enteropathy in patients with RAS. BMC Gastroenterol. 2009;9:44.
Rubio-Tapia A et al. American College of Gastroenterology. ACG clinical guidelines: diagnosis and management of CD. Am J Gastroenterol. 2013;108(5):656.
Egeberg A et al. Rosacea and gastrointestinal disorders: a population-based cohort study. Br. J. Dermatol. 2017;176:100-106.
Presentation: Thursday, June 15, 2023
THU444 A Case Of Zoledronic-Acid Induced Acute Anterior Uveitis, Episcleritis, And Synovitis
Authors: Au Xiu Ying , Dorin Richard I , Aguirre Lina E 
Published: October 2023

Abstract
Disclosure: X. Au: None. R.I. Dorin: None. L.E. Aguirre: None.
Introduction: IV zoledronic acid infusion (ZAI) may result in acute phase reaction associated with self-limited symptoms of pyrexia, myalgia, headache, arthralgia, and pain in extremities. Eye inflammation and joint swelling are less common manifestations of post-ZAI acute phase reaction, but are important to recognize and treat owing to the potential for long-term sequelae. Clinical Case: A 66-year-old female was diagnosed with osteoporosis by DXA. She received her first ZAI (5 mg) and within 24 hours noted onset of moderate-to-severe diffuse musculoskeletal pain and fever up to 102°F. Two days later, the patient noted swelling of her left wrist and bilateral knee and ankle joints. Clinical assessment led to a diagnosis of post-ZAI synovitis, which improved somewhat with IV ketorolac followed and outpatient po acetaminophen and ibuprofen. Six days after ZAI she developed left eye (OS) redness. Ophthalmologic evaluation identified acute episcleritis and acute anterior uveitis with normal visual acuity and intraocular pressures. The patient was managed with a transient (5 day) course of prednisone (40 mg daily) and a 14-day course of topical prednisone, cyclosporine, and lubrication. Posterior synechiae of OS resolved on follow-up exam and topical medications were successfully tapered over three weeks with resolution of visual complaints. Discussion: Acute phase reaction is a common side effect of ZAI, with an incidence of fever (17.2%) and diffuse musculoskeletal pain (15.7%) reported in one study [1]. Eye inflammation and joint swelling have also been reported after ZAI, but at a lower incidence (0.4% each) [1]. Patients with acute episcleritis and uveitis may require systemic steroids. While the prognosis of appropriately treated acute anterior uveitis is good, it may be associated with concomitant orbital inflammation that could lead to permanent vision loss. Risk factors for development of severe acute-phase reactions after ZA infusion have not been identified, though acute phase reactions are more commonly observed after the first dose of ZAI [2]. Conclusion: Physicians should be aware of rare ophthalmic complications of ZAI, as their prompt recognition and treatment may be important in prevention of long-term ocular sequelae. References: 1. Reid IR, Gamble GD, et al. Characterization of and risk factors for the acute-phase response after zoledronic acid. J Clin Endocrinol Metab. 2010 Sep;95(9):4380-7.2. Black DM, Delmas PD, et al. HORIZON Pivotal Fracture Trial. Once-yearly zoledronic acid for treatment of postmenopausal osteoporosis. N Engl J Med. 2007 May 3;356(18):1809-22.
Presentation: Thursday, June 15, 2023
THU445 Complicated Course And Management After Denosumab Discontinuation: A Case Report
Authors: Arora Ipsa , Ceglia Lisa 
Published: October 2023

Abstract
Disclosure: I. Arora: None. L. Ceglia: None.
Background: Discontinuation of denosumab (DMAb) can lead to rapid bone loss and sometimes multiple vertebral fractures (VFx). Here we present such a case and related challenges in management. Case: A 56-year-old perimenopausal female presented for management of osteoporosis (OP) complicated by multiple VFx following a missed dose of DMAb in 8/2020. Past bone health history was notable for treatment with alendronate for approximately 11 years as a premenopausal woman. During a drug “holiday” in 2015, she was found to have a decline in bone mineral density (BMD). She was advised to start treatment with DMAb in 8/2016. She was adherent to DMAb injections for 4 years but missed a dose in 8/2020 due to the COVID-19 pandemic. In 1/2021, she developed back pain with no trauma and was diagnosed with VFx of T7, T10 and T12. She underwent vertebroplasty of all 3 vertebrae by 2/2021. DMAb was resumed in 2/2021 and 8/2021. Labs were only notable for hypercalciuria for which hydrochlorothiazide (HCTZ) was initiated. In 11/2021 she presented with new symptomatic VFx of T5, T9 and T11. In 12/2021 (3 weeks post 3 new VFx), serum fasting C-telopeptide (CTX) was 79 pg/mL. Teriparatide or abaloparatide were avoided due to hypercalciuria and potential BMD losses with this transition. Thus in 1/2022, she started romosozumab (ROMO) in an attempt to prevent new VFx. CTX was initially 78 pg/mL and rose rapidly over 3 months to 325 pg/mL with new back pain in 4/2022. No new VFx were detected; however, ROMO was discontinued due to the rise in CTX level. In 5/2022, she received a dose of zoledronic acid (ZOL). It suppressed CTX from 325 to 131 pg/mL by 6/2022. She received another 2 doses of ZOL in 8/2022 and 11/2022 due to rebound rises in CTX. Of note, as she reported ongoing menopausal complaints, transdermal low-dose estradiol therapy was started in 11/2022. She has not had a new VFx in more than 1 year. Hypercalciuria persisted throughout 2022 requiring rising doses of (HCTZ). DXA in 12/2022 was stable vs. 12/2021 without evidence of significant BMD loss. Discussion: This case not only highlights the known risk for multiple VFx in a patient discontinuing long-term DMAb treatment (4 years), but also the risks for such VFx complications in women of younger age during menopausal transition and a history of vertebroplasty. In addition, this report does not support transitioning from long-term DMAb to ROMO in order to prevent a rapid increase in the bone resorption marker, CTX. Rather, treatment with ZOL every 12 weeks based on frequent CTX monitoring successfully maintained BMD stable following long-term DMAb discontinuation.
Presentation: Thursday, June 15, 2023
THU450 Looking Beyond The Usual Suspects: A Rare Case Of Teriparatide Induced Gynecomastia
Authors: Ramchandani Bhanvi Prakash , Mirza Faryal Sardar 
Published: October 2023

Abstract
Disclosure: B.P. Ramchandani: None. F.S. Mirza: None.
Introduction: Teriparatide (TP) is a parathyroid hormone analogue used as anabolic therapy for treatment of osteoporosis. Common side effects include nausea, headache and orthostatic hypotension. We hereby describe the first case of gynecomastia that developed shortly after starting treatment with TP, and resolved a couple of months after discontinuation of therapy. Clinical Case: A 61 year old male physician with severe osteoporosis presented to the endocrinology clinic with bilateral nipple tenderness and a firm lump under the left areolar region four months after starting therapy with TP. There was no associated bleeding or nipple discharge. He denied having any erectile dysfunction or decline in sexual function. His medications included vitamin D, lansoprazole and rosuvastatin. Family history was significant for osteoporosis and ductal carcinoma in situ in mother, and bilateral hip fractures after falls in his father at the age of 80. He denied any alcohol or recreational drug use. He was physically active but denied any recent weight loss. Other than the firm glandular tissue under left lateral areola, no other findings including nipple inversion or lymphadenopathy were noted on exam. Laboratory testing showed normal total and free testosterone level at 360 ng/dl and 68 pg/ml respectively, estradiol 39 pg/ml, LH 1.44 mIU/ml, FSH 4.44 mIU/ml, TSH 1.71 uIU/L, Prolactin 4.54 ng/ml and HCG &lt;2 IU/ml, along with normal creatinine and liver enzymes. Mammogram showed left greater than right flame-shaped focal asymmetry contiguous with the nipple compatible with gynecomastia. Breast ultrasound showed left greater than right retroareolar dendritic slightly hypoechoic soft tissue correlating with the mammographic findings. Due to significant discomfort associated with gynecomastia, a decision was made to stop TP and treatment with risedronate was initiated. Following the discontinuation of the drug, the patient reported that his symptoms gradually improved and the nipple sensitivity and the palpable swelling of the left breast completely resolved at his follow up visit four months later. Conclusion: The temporal association between the initiation of teriparatide treatment and onset of gynecomastia, and improvement of the symptoms and physical findings upon discontinuation of the drug suggests that teriparatide was the likely cause of gynecomastia in our patient.
Presentation: Thursday, June 15, 2023
THU465 Significant Improvement In Bone Mineral Density Following Treatment For Tumor Induced Osteomalacia
Authors: McHan Lara C , Augustine Marilyn 
Published: October 2023

Abstract
Disclosure: L.C. McHan: None. M. Augustine: None.
Background: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by renal phosphate wasting and impaired activation of vitamin D due to excess secretion of FGF23, often from phosphaturic mesenchymal tumors (PMTs). TIO typically presents with months to years of bone pain, muscle weakness, and fractures often leading to functional decline. Given these nonspecific symptoms, diagnosis of TIO can be delayed for years. Removal of the tumor is curative, though it can sometimes be a challenge to localize. For those whose tumors are unable to be localized or removed, medical management with phosphorus and vitamin D is recommended. Patients with TIO have low bone mineral density (BMD) at time of diagnosis. Case Reports: We are presenting two cases of TIO, one managed surgically and one managed medically. Patient 1 is a 45-year-old man with Fabry disease who presented with years of progressive pain, difficulty ambulating, and multiple fractures. Lab workup revealed low serum phosphorus, elevated urinary phosphorus, elevated FGF23, and negative genetic testing for heritable causes of hypophosphatemic osteomalacia. DOTATATE imaging identified a subcutaneous left flank mass, which was excised resulting in improvement in symptoms and resolution of biochemical abnormalities. Additionally, lumbar spine (LS) bone mineral density (BMD) nearly doubled; prior to diagnosis of TIO, LS BMD was 0.601 g/cm2 and 8 months after surgical excision of the tumor, LS BMD was 1.178 g/cm2. Patient 2 is a 55-year-old nonverbal man with autism and intellectual disability who presented with months of progressive difficulty ambulating, presumed pain, functional decline, and multiple fractures. Workup revealed low serum phosphorus, elevated urinary phosphorus, and elevated FGF23 concerning for TIO. He was initiated on phosphorus and vitamin D supplementation, but no culprit tumor has been identified despite multiple scans over the course of years. However, the patient has had a significant improvement in functioning with medical management in addition to a remarkable 48% improvement in LS BMD, from 0.855 g/cm2 prior to diagnosis of TIO and 1.264 g/cm2 following 3 years of medical management. Clinical Lessons: In our review of the literature, there are few case reports and case series documenting the significant improvements in BMD with treatment of TIO. In our experience, two patients who had months to years of debilitating symptoms exhibited remarkable improvements in symptoms and marked improvement in LS BMD following treatment. This emphasizes the importance of recognizing the diagnosis of TIO, as even when the causative tumor is not identified, treatment typically has a significant impact on patient functioning and quality of life.
Presentation: Thursday, June 15, 2023
THU469 Inhalant Use Resulting In Diffuse Osteosclerosis: Case Report And Review Of The Literature
Authors: Hung Chermaine , Jesse Mary , Saxon David 
Published: October 2023

Abstract
Disclosure: C. Hung: None. M. Jesse: None. D. Saxon: None.
Osteosclerosis of the bone can develop from excessive fluoride intake. Fluoride sources range from oral intake of fluorinated water, ingestion of toothpaste, to fluorocarbon inhalation. Skeletal fluorosis can manifest with bony changes ranging from increased striation/granulation to thickened trabeculae, and ligaments and tendons can ossify (1). In the literature patients have presented after noticing joint enlargement, worsening chronic joint pains, immobility, and stiffness. Workup generally includes radiographs and dual x-ray absorptiometry (DXA) can reveal increased bone density (2). We describe a patient with osteosclerosis and the workup for this condition. We review the existing literature on fluorinated inhalant use as a cause of osteosclerosis. The patient is a 49-year-old man with type 2 diabetes, chronic pain in multiple joints, hypogonadism, and osteomyelitis status post right above knee amputation was referred to Endocrinology after he was found to have sclerotic bone lesions while undergoing workup for poor mobility. X-ray, CT and MRI scans over the past 7 years showed diffuse bone sclerosis in the spine, pelvis, knee, tibia, and foot. Labs demonstrated normal calcium, albumin, and alkaline phosphatase. DXA confirmed elevated T-scores of +6.8 (1.985 g/cm2) at left femoral neck, +8.6 (2.097 g/cm2) at left proximal femur and +9.8 (2.406 g/cm2) at lumbar spine. The patient confirmed “huffing” computer cleaner for 1 year while having severe depression and had stopped inhalant use 7 years prior to presentation. On literature review we identified case reports of bone sclerosis related to inhalant use. Long-term outcomes and optimal management were described only in case reports. Osteosclerosis from fluorosis should be considered in patients with diffusely increased bone density at multiple sites.
1. Wang Y, Yin Y, Gilula LA, Wilson AJ. Endemic fluorosis of the skeleton: radiographic features in 127 patients. AJR Am J Roentgenol. 1994;162(1):93-8. Epub 1994/01/01. doi: 10.2214/ajr.162.1.8273699. PubMed PMID: 8273699.2.Tucci JR, Whitford GM, McAlister WH, Novack DV, Mumm S, Keaveny TM, et al. Skeletal Fluorosis Due To Inhalation Abuse of a Difluoroethane-Containing Computer Cleaner. J Bone Miner Res. 2017;32(1):188-95. Epub 2016/07/28. doi: 10.1002/jbmr.2923. PubMed PMID: 27449958; PubMed Central PMCID: PMCPMC5977397.
Presentation: Thursday, June 15, 2023
FRI669 Skeletal Effect Of Cyclic Guanosine Monophosphate Dependent Protein Kinase G Type 2
Authors: Kim Se Min , Shelly Eleanor , Sultana Farhath , Korkmaz Funda , Temple Morgan , Gimenez Judit , Muradova Valeriia , Yuen Tony , Zaidi Mone 
Published: October 2023

Abstract
Disclosure: S. Kim: None. E. Shelly: None. F. Sultana: None. F. Korkmaz: None. M. Temple: None. J. Gimenez: None. V. Muradova: None. T. Yuen: None. M. Zaidi: None.
The nitric oxide (NO)-cyclic guanosine monophosphate (cGMP)-protein kinase G (PKG) pathway plays a significant role in bone remodeling. PKG type 2 (PKG2) is expressed in bone cells [1-2], and mice with osteoblast-specific PKG2 upregulation (Col1a1-Prkg2R242Q) showed increased bone formation and preserved bone in mice with streptozotocin-induced diabetes [3]. In this study, we have crossed Prkg2fl/fl mice with Col2.3-Cre mice and Acp5-Cre mice, respectively, to generate osteoblast-specific and osteoclast-specific Prkg2 knockout mutants. The areal BMD of osteoblast-specific or osteoclast-specific mice were not different from the respective Cre- controls at 4, 6 and 8 months. µCT did not show any difference in fractional bone volume (BV/TV), or trabecular parameters compared with the Cre- controls. However, when mice were put under skeletal insults through glucocorticoid injection (dexamethasone, 10 mg/kg, SQ, daily, 4 month), Col2.3-Cre+;Prkg2fl/+ mice lost more bone compared with Col2.3-Cre−;Prkg2fl/+ mice at the tibia (−23.1% vs. −12.1%, P=0.011). In addition, we observed the osteoblast-specific Prkg2 knockout mice displayed increased body weight (Col2.3-Cre+;Prkg2fl/fl +25.1%**, Col2.3-Cre+;Prkg2fl/+ +19.9%*, Col2.3-Cre−;Prkg2fl/fl +7.3%), increased fat mass (Col2.3-Cre+;Prkg2fl/fl +26.0%*, Col2.3-Cre+;Prkg2fl/+ +21.4%**, Col2.3-Cre−;Prkg2fl/fl −3.3%), and decreased lean mass (Col2.3-Cre+;Prkg2fl/fl −4.3%*, Col2.3-Cre+;Prkg2fl/+ −2.9%, Col2.3-Cre-;Prkg2fl/fl +0.3%) from the baseline (**P &lt; 0.01 and *P &lt; 0.05 vs. Cre- controls). Furthermore, we noted a longer femur length in the osteoblast-specific Prkg2 knockout mutants. At 8 months, the femur length of Col2.3-Cre+;Prkg2fl/fl and Col2.3-Cre+;Prkg2fl/+ were 9.3% (P &lt; 0.01) and 7.5% (P = 0.01), respectively, longer than the Cre- controls. Our findings suggest that PKG2 is necessary for protecting bone from glucocorticoid insults and abolishing PKG2 in osteoblasts might affect the differentiation of mesenchymal stem cell towards adipocytes and chondrocytes at the expense of osteoblasts and myocytes.
[1] Kim et al, Ann N Y Acad Sci, 2021[2] Rangaswami J et al, Biol Chem. 2009[4] Ramdani et al, J Endocrinol 2018
Presentation: Friday, June 16, 2023