bluuebunny/crossref_metadata_2025 huggingface dataset:
12363 A Unique Case Of hüRthle Cell Carcinoma of the Thyroid Gland and Meningioma
Authors: Elsayed Iya , Khan Rumana , Dhaliwal Harmeet
Published: October 2024

Disclosure: I. Elsayed: None. R. Khan: None. H. Dhaliwal: None.

Introduction: MEN1 gene is a tumor suppressor gene on chromosome 11q13 that encodes the nuclear protein menin, which regulates cell growth and cycle. When menin protein is deficient, MEN1 develops. MEN1 mutation usually involves tumors within the parathyroid glands, pancreas, or pituitary. Case Description: A 66-year-old male with past medical history of hypertension, hyperlipidemia, and coronary artery disease presented with sudden onset dizziness, nausea and vomiting for 1 hour. He had similar symptoms on and off for several months, however on the day of presentation, these symptoms were much more acute and severe. Stroke work-up was done including CT and CTA head which revealed a 1.7cm enhancing lesion to R temporal lobe with surrounding edema with an incidental 3 x 3 cm heterogeneous mass in the large portion of the right thyroid gland. Steroids initiated. MRI brain imaging revealed findings consistent with meningioma with local mass effect and pronounced parenchymal edema. Patient underwent successful resection of the mass and pathology confirmed diagnosis of Meningioma, WHO Grade 1. Ear Nose Throat specialist was consulted for incidental thyroid mass. Ultrasound guided Fine needle aspiration biopsy was, Pathology report returned suspicious for follicular neoplasm, Hürthle cell-type. Patient initially underwent right substernal semi-thyroidectomy. Pathology confirmed diagnosis of Oncocytic (Hürthle cell) carcinoma, minimally invasive, 4.3 cm with a single focus of capsular invasion, negative for lymphovascular invasion Discussion: This case presents a 66-year-old male with a rare coexistence of two distinct tumors: a meningioma and a Hürthle cell carcinoma of the thyroid gland. While meningiomas and Hürthle cell carcinoma are not commonly associated with MEN1 syndrome, there have been reports of atypical cases with unusual tumor associations. MEN1 is usually characterized by abnormalities in at least two affected endocrine glands, but variations can involve other endocrine and non-endocrine tumors as well. 25% of thyroid disease can be seen in MEN 1 syndrome; typically papillary thyroid cancer. Only one case in literature found Hürthle cell carcinoma and meningioma in the setting of MEN-1 phenotype. A second case unique case was Hürthle cell carcinoma with metastases to the meninges. The discovery of both a meningioma and a Hürthle cell carcinoma in this patient emphasizes the importance of clinicians being vigilant for the possibility of multiple neoplasms. This case highlights that there may be a relation between role of MEN1 with atypical neoplasms not commonly seen.

Presentation: 6/2/2024
8225 Amiodarone-Induced Thyrotoxicosis; Unusual Outcome for a Relatively Common Problem
Authors: Abobaker A , Naji A , Ansari F , Mushref M
Published: October 2024

Disclosure: A. Abobaker: None. A. Naji: None. F. Ansari: None. M. Mushref: None.

Background: Amiodarone-Induced Thyrotoxicosis (AIT) affect a significant proportion of patients taking Amiodarone. AIT manifests in different types and can be challenging to treat. Herein, we present a case of Amiodarone-induced thyrotoxicosis complicating ventricular tachycardia (VT) in a patient with prior history of non-ischemic dilated cardiomyopathy (DCM) requiring plasmapheresis and total thyroidectomy. Clinical case: A 38-year-old male with history of non-ischemic DCM, VT status post multiple endocardial ablations, ICD placement, and maintenance medical treatment with amiodarone and mexiletine, who was admitted to hospital on account of symptomatic episodes of ventricular tachycardia. Initial laboratory work showed significant hyperthyroidism; TSH < 0.03 µIU/ml (n 0-3-5.6 µIU/ml), free T4 4.06 ng/dl (n 0-6-1-6 ng/dl) and free T3 5.1 pg/ml (n 2.5-3.9 pg/ml). Thyroid ultrasound showed moderate thyromegaly without thyroid nodules. Amiodarone was stopped, and he was started on methimazole and prednisone for a presumed mixed type AIT. During the hospital course, he developed multiple episodes of VT requiring multiple shocks by ICD. He was subsequently treated with sotalol and discharged after he was stable with improvement in his thyroid function. Consequently, he was re-admitted several times with VTs and worsening thyroid hormones level. Endocrinology team was consulted, who initially treated the patient with increasing dose of both methimazole, glucocorticoids and cholestyramine. However, due to lack of clinical response and the complicated cardiovascular presentation, total thyroidectomy after achievement of euthyroid-state was recommended. To expedite the process, the patient received plasmapheresis for 7 days with significant improvement of thyroid hormones level, and he successfully underwent total thyroidectomy. His hospital course after thyroidectomy was complicated by the development of refractory VT necessitating endocardial ablation. He was then discharged on antiarrhythmics and levothyroxine. Despite normal thyroid function after surgery, the patient was re-admitted after 15 months with VT storm and eventually underwent heart transplant surgery. Conclusion: Amiodarone-induced thyrotoxicosis, especially when unresponsive to medical treatment, poses a critical challenge, particularly in patients with arrhythmias complicating cardiomyopathy. In our case, the patient necessitated plasmapheresis followed by total thyroidectomy due to the failure of medical interventions. This approach should be considered in patients who require prompt attainment of euthyroid state.

Presentation: 6/3/2024
7965 An Extremely Rapid Progression of Anaplastic Thyroid Carcinoma!
Authors: Makadsi Sarah , Altaweel Tamara , Seyoum Berhane , Garg Ayushi
Published: October 2024

Disclosure: S. Makadsi: None. T. Altaweel: None. B. Seyoum: None. A. Garg: None.

Introduction: Anaplastic Thyroid Carcinoma (ATC) is a very rare and aggressive form of thyroid cancer. It mostly occurs in people over 60 years of age, has unexpected local and distant metastases with short average survival rate of 6 months and approximately 1 in 5 alive after 12 months. Though there are long term survivors, here we are presenting an unfortunate rapid case of a highly aggressive anaplastic thyroid carcinoma. Case Presentation: A 63-year-old female with history of widely metastatic stage IV lung adenocarcinoma diagnosed 3 months prior, alcohol and tobacco abuse, hypertension and arthritis who presented to the hospital with dyspnea and dysphagia. During her hospitalization, she was found to have a large neck mass and hypercalcemia. CT neck showed interval development of a 7.5 cm thyroid mass, with mild narrowing of the airway and bilateral necrotic cervical nodes. A PET/CT a month and a half prior to admission showed no evidence of this mass. Core biopsy of the mass on day 3 of admission showed poorly differentiated thyroid carcinoma, favoring anaplastic histology, stage IVB (T3a N1b M0). The pathology showed variously sized and spaced thyroid follicles with infiltration by highly atypical cells with high mitotic activity, focal prominent nucleoli and hyperchromasia without any specific architectural configuration. On day 6, she underwent tracheostomy placement and was started on chemoradiation with carboplatin and paclitaxel. Additionally, she completed 6 of 20 sessions of radiation to the thyroid. The mass effect on her airway continued to worsen daily. On day 12 of admission, she developed acute hypoxic respiratory failure and shock and was transferred to the ICU. She required aggressive care in the ICU for 3 days and was then transferred back to the medical floor. Subsequently, her clinical status stabilized, however she continued to have a very poor prognosis given the aggressive behavior of the tumor and the airway compromise. Supportive services and primary team had discussion with family regarding the goals of care and the plans were made to transition to comfort measures only. Conclusion: ATC is a rare yet devastating diagnosis. The patient in the discussion demonstrated an ultra-rapid progression of disease. Despite intensive treatment, the patient quickly deteriorated within a month and was placed under hospice care. Currently, treatment options for anaplastic thyroid carcinoma are limited and the prognosis is poor. Investigation into new, fast-acting therapies is necessary to help alter the outcomes in these patients.

Presentation: 6/1/2024
8086 An Interesting Yet Uncommon Presentation of Sensorineural Hearing Loss Due to Hypothyroidism
Authors: Kiani Amna N , Solanki Naisargee N , Lattouf Ali , Chaudhary Ahmed jamal
Published: October 2024

Disclosure: A.N. Kiani: None. N.N. Solanki: None. A. Lattouf: None. A. Chaudhary: None.

Introduction: Thyroid hormone is needed for the normal development of body structures including the auditory system. Apart from some common manifestations, hypothyroidism can also cause hearing loss. This hearing loss is more commonly bilateral and sensorineural. We present a case of improvement of hearing loss in an elderly female with hypothyroidism, after starting levothyroxine Case presentation: A 64-year-old female, with a past medical history of hypertension, and hypothyroidism Secondary to radioactive iodine ablation, presented after a fall. Home medications include thyroxine 175 mcg daily, however, she is not compliant with her medication. Thyroid profile 2022 showed thyroid stimulating hormone (TSH) 54.80, and free T4 0.3. A few months ago, the patient developed sudden bilateral sensorineural hearing loss that is more pronounced in the left ear. The audiogram showed moderate to profound mixed hearing loss on the right and moderate mixed hearing loss on the left, with asymmetry on her word recognition score - worse on the right. Cerum disimpactation improved hearing loss partially. Recent thyroid profile showed a TSH level 44.05, free T4 < 0.25, and free T3 2.3. The patient was restarted on a home dose of levothyroxine. A week later, the patient reported subjective hearing improvement bilaterally with a repeat TSH of 19.88. Conclusion: Hearing loss secondary to hypothyroidism is not uncommon and is partially or completely reversible with treatment. Patients with newly diagnosed hypothyroidism should get a baseline and annual audiograms to monitor any changes in hearing. Additionally, evaluation for hearing loss should also include TSH levels.

Presentation: 6/3/2024
6581 Case of Conversion from Hashimoto’s Thyroiditis to Graves’ Disease: An Unusual Sequence
Authors: Atri Avica , Anastasopoulou Catherine
Published: October 2024

Disclosure: A. Atri: None. C. Anastasopoulou: None.

Introduction: The two most common autoimmune thyroid diseases are Hashimoto’s thyroiditis (HT) and Graves’ disease (GD). HT is a destructive thyroiditis, via autoantibodies most commonly against the thyroid peroxidase enzyme (anti-TPO), while GD results in hyperthyroidism, due to TSH-receptor stimulating antibodies (TSAb) and Thyroid Stimulating Immunoglobulin (TSI). Case Report: A 23-year-old male presented to the clinic with complaints of weight gain, dry skin and excessive hair loss. His physical examination was non-contributory and laboratory evaluation revealed a TSH of 130 uIU/ml (ref: 0.45-4.5), free T4 (fT4) 0.4 ng/dl (ref: 0.82-1.77), and positive anti-TPO antibodies, for which he was started on levothyroxine (LT4) supplementation for newly diagnosed HT. Over the first five months on treatment, his TSH and T4 progressively improved to 31.8 uIU/ml and 1.48 ng/dl, respectively. Six months later, his TSH rapidly decreased to 0.01 uIU/ml, with an fT4 elevation to 2.45 ng/dl, alongside developing hyperthyroid symptoms like weight loss, insomnia and palpitations. Due to persistently positive anti-TPO antibody titers, his hyperthyroidism was considered iatrogenic, and LT4 dose was gradually reduced, but eventually required to be discontinued. A thyroid ultrasound depicted generalized increase in vascularity, consistent with active thyroiditis. He continued to have a significantly suppressed TSH <0.005 uIU/ml and elevated fT4, off all medications, and was also found to have multiple positive antibody titers [TSI of 1.02 IU/L (ref: < 0.55), thyroglobulin antibody of 351 IU/ml (< 0.9) and anti-TPO Ab >600 IU/ml (ref< 34)]. He was then diagnosed with new GD, and thyroid suppression therapy with 10mg/day of methimazole was initiated, to which he rapidly responded, with a TSH of 0.059 uIU/ml and reduced fT4 of 1.37 ng/dl. His diagnosis of GD was confirmed via an I-123 thyroid uptake scan which revealed a homogenous increased tracer uptake of 57% at 24 hours (ref 15-35%), following which he received definitive therapy for GD, with radio-active iodine (RAI) ablation with 20.6 mCi of I-131. Discussion: As HT and GD have a common autoimmunity-based pathophysiology, conversions between the two clinical states have been described, though HT to GD, as seen in our patient is much less common than the reverse conversion. Some described mechanisms include an antibody switch from thyrotropin receptor blocking to stimulating action, HT-induced thyrotroph destruction resulting in GD antibody formation, and treatment with LT4. Simultaneously elevated levels of both TSI and anti-TPO can occur, and therefore treatment and diagnosis should be based on thyroid function tests and clinical presentation. Patients with autoimmune thyroid disease require close monitoring, due to the potential risk of conversion from one clinical end of the spectrum to the other, and early recognition is important.

Presentation: 6/1/2024
6723 Development and Validation of Long-Acting Recombinant Human Thyroid-Stimulating Hormone Using SAFA Technology
Authors: Kim D , Kang M , Lee S , Cho Y , Zi G , An J , Park J , Han J , Chi S , Cha S h , Lee E
Published: October 2024

Disclosure: D. Kim: None. M. Kang: None. S. Lee: None. Y. Cho: None. G. Zi: Employee; Self; AprilBio Co. J. An: Employee; Self; AprilBio Co. J. Han: Employee; Self; AprilBio Co. S. Chi: Employee; Self; AprilBio Co. S. Cha: Owner/Co-Owner; Self; AprilBio Co.. E. Lee: None.

Thyrogen, a recombinant human thyroid-stimulating hormone (rhTSH), has been useful in improving diagnostic radioiodine scanning and thyroglobulin testing for patients with thyroid cancer. It is also used with radioiodine therapy to eliminate remaining thyroid tissue. However, its short half-life in the bloodstream necessitates multiple doses during treatment. We developed a new long-acting rhTSH using anti-serum albumin Fab-associated (SAFA) technology. SAFA-TSH was produced using a Chinese hamster ovary expression system. To verify its biological activity, we generated Nthy-ori 3-1 cells stably overexpressing TSHR and measured the production of cAMP. In a rat study, slow-release T3 pellets were implanted three days prior to the administration of Thyrogen or SAFA-TSH, allowing for measurement of only the amount of T4 release resulting from exogenous administration. SAFA-TSH increased cAMP production dose-dependently, but less effectively than Thyrogen at similar concentrations. SAFA-TSH required 5∼6 times the dose of Thyrogen to achieve similar cAMP levels, likely due to steric hindrance from the TSH fusion to SAFA. In a rat study, SAFA-TSH produced elevated T4 levels well after the decline in the response to Thyrogen. SAFA-TSH had significantly higher cumulative effects on T4 and free T4 levels compared to Thyrogen, as observed by nearly 2-fold higher average area under the effect curve of 335.73 vs 192.06 μg×h/dL and 135.24 vs 68.52 μg×h/dL, respectively. Long-acting TSH with bioactivity was successfully created using SAFA technology. These data support further development of SAFA-TSH in a clinical setting, potentially representing an important advancement in the treatment of patients with thyroid cancer.

Presentation: 6/3/2024
7016 Glucocorticoid Resistance Syndrome In Two Patients With Diverse Phenotype And Genotype
Authors: Battiola Tess , Francoise Couldwell Marie
Published: October 2024

Disclosure: T. Battiola: None. M.F. Couldwell: None.

Introduction: Glucocorticoid resistance syndrome (GRS) is a rare genetic disorder characterized by diminished sensitivity of target tissues to cortisol due to impaired glucocorticoid receptor function. Patients lack clinical manifestations of Cushing’s syndrome but may present with mineralocorticoid and/or androgen excess related to ACTH hypersecretion. We report two cases of GRS that highlight its phenotypic and genetic heterogeneity. Case description: Patient A A 66-year-old female presented with anxiety, hypertension, and newly diagnosed diabetes. Her biochemical evaluation demonstrated persistent hypercortisolism, however she had no clinical features of Cushing’s syndrome. Subsequent evaluation showed inappropriately normal ACTH. No abnormal lesions were seen on MRI of the pituitary. Inferior petrosal sinus sampling (IPSS) was not consistent with a pituitary source. Investigation for ectopic ACTH secretion with full body Cu-68 DOTATATE-PET scan was unrevealing. Her clinical picture was consistent with GRS. Genetic testing did not identify a mutation. Patient B A 43-year-old female presented with weight loss, anxiety, and fatigue. She had persistently elevated cortisol levels but no clinical findings of Cushing’s syndrome. Biochemical evaluation revealed inappropriately normal ACTH. There was no pituitary lesion on MRI. IPSS localized ACTH secretion to the pituitary however resected pituitary tissue was negative for ACTH on immunostaining. The patient was found to be heterozygous for NR3C1 c.1322G>C. Discussion: We describe two cases of persistent ACTH-dependent hypercortisolism in the absence of clinical Cushing’s syndrome, leading to a diagnosis of GRS. GRS is diagnostically challenging due to a wide clinical spectrum. When suspected, evaluation should include 24h UFC and dexamethasone suppression testing. ACTH may be inappropriately normal or increased. Genetic testing confirms the diagnosis. The molecular pathogenesis of GRS has been attributed to inactivating mutations in the NR3C1 gene, which encodes the human glucocorticoid receptor (hGR). There have also been reported cases of GRS without a recognizable mutation of hGR, as in Patient A. These cases may be due to mutations in other steps of the glucocorticoid signaling pathway. Treatment of GRS is aimed at suppression of the HPA axis to reduce ACTH-mediated hypercortisolism, mineralocorticoid, and/or androgen excess. Dexamethasone can be titrated to symptoms and biochemical endpoints.

Presentation: 6/2/2024
7024 Papillary Thyroid cancer in rare cystic form
Authors: Shrestha G , Qureshi F , Yadav K , Shrestha S , Sapkota S , Yadav M
Published: October 2024

Disclosure: G. Shrestha: None. F. Qureshi: None. K. Yadav: None. S. Shrestha: None. S. Sapkota: None. M. Yadav: None.

Background: Thyroid nodules are often asymptomatic and usually discovered incidentally. Thyroid cancer is found in about 8 % of nodules in men and 4 % of nodules in women. Papillary thyroid cancer is a predominant form of thyroid malignancy, accounting for almost 85 % of all cases. Papillary thyroid carcinoma usually presents as solid irregular thyroid nodules but in very rare cases it can present as a cystic variant, usually accounts for less than 10% of all cases. Although most of the thyroid cysts are considered benign, it does have less than 5% risk of malignancy. Case report:A 36-year-old female presented with a right-side neck mass for 10 years. She noticed the mass about 5 months prior to initial presentation. The exam at that time revealed a 4 cm right-sided firm, fluctuating mass that moved with swallowing. She did not pursue any investigation at the time and failed to follow up. However, she presented again with the same complaint without other systemic and local symptoms one and half years ago. Bedside ultrasound confirmed cystic thyroid nodules and she underwent ultrasound-guided FNAC with aspiration of 10ml serous fluid. FNAC was negative for malignancy, and she was advised to follow up after 4 months. Her mass initially regressed after aspiration, but it reappeared in 3-4 months. Ultrasound-guided FNAC was repeated which again did not reveal malignancy. Laboratory investigation done before the 1st FNAC procedure showed normal TSH 3.64 (0.30- 5.33 ) and normal FT4 0.86 ( 0.60-1.40 ). She was advised to see an endocrinology surgeon for surgical options because of large and recurrent thyroid cyst. After extensive discussion and given 2nd-degree family history of thyroid carcinoma (maternal uncle), she was advised to go for a right-sided thyroid lobectomy. Post-lobectomy pathology revealed a 4cm encapsulated solid/trabecular variant of Papillary thyroid carcinoma with 1mm secondary focus and strong positivity for TTF-1 and PAX-8 immunohistochemistry. Because of the finding of Papillary thyroid carcinoma, it was recommended to obtain an ultrasound soft tissue of the neck which showed suspicious lymph nodes on both the right and left side. She underwent total thyroidectomy of the remaining thyroid along with an excisional biopsy of lymph nodes that did not show malignant features. She did not have complications like dysphagia, or hoarseness following surgery. She developed post-surgical hypothyroidism after a certain period and currently, she is on levothyroxine 150mcg daily. Conclusion: Cystic thyroid nodules must not be overlooked especially if the cystic nodules are larger in size and recurrent in nature. Our case illustrates to not rely solely on FNAC if the thyroid cyst is large and recurrent after aspiration and consider the removal of the cyst along with lobectomy of the involved lobe for definite diagnosis.

Presentation: 6/1/2024
7168 Papillary thyroid carcinoma co-existing with intrathyroidal metastasis from lung neuroendocrine tumor
Authors: Balasubramanian Priyadarshini , Ladenheim Alexander , Gilani Syed , Gibson Courtney , Kunz Pamela
Published: October 2024

Disclosure: P. Balasubramanian: None. A. Ladenheim: None. S. Gilani: None. C. Gibson: None. P. Kunz: None.

Introduction: Papillary thyroid carcinoma is the most common differentiated thyroid carcinoma. Thyroid metastasis from neuroendocrine tumors (NETs) is extremely rare with an estimated prevalence of <1%. We report a rare case of 59 year old female with co-existence of papillary thyroid carcinoma and intrathyroidal metastasis from a lung NET. Case: A 59-year-old female with a metastatic, well-differentiated lung NET (Ki-67 15%, unable to distinguish between typical and atypical) was noted to have a suspicious hypermetabolic left thyroid nodule on both FDG PET CT and Ga68 DOTATATE PET CT during the initial work-up . Thyroid ultrasound showed a suspicious 1.9 cm TR5 left upper pole nodule and biopsy was consistent with papillary thyroid cancer. Final pathology following total thyroidectomy and central neck dissection demonstrated 1.6 cm left papillary thyroid carcinoma with no lympho-vascular invasion or extrathyroidal extension co-existing with an intrathyroidal metastasis from the lung NET. Calcitonin stain was negative in the NET. Post op, thyroglobulin level was 0.18 with negative thyroglobulin antibodies. Given her low risk thyroid cancer, RAI was deferred. She was started on everolimus for management of metastatic lung NET and has stable disease 12 months after initiation of treatment. Conclusion: With increased use of advanced imaging for diagnosis, staging and treatment response evaluation, incidental thyroid nodules have become a common finding. However, there is a paucity of guidelines from professional organizations regarding the management of these nodules. Malignancy rates of FDG and Ga68 DOTATATE avid nodules can be as high as 35% and 20% respectively. While a significant proportion of these will be papillary thyroid cancers, it is important to consider the possibility of metastasis in patients with diagnosed primary malignancy. Thyroid metastasis from NETs occurs rarely but in these cases, it is crucial to differentiate it from medullary thyroid carcinoma using immunohistochemistry for calcitonin. Accurate diagnosis is critical as medical and surgical treatment can vary significantly in primary versus secondary malignancies of the thyroid.

Presentation: 6/2/2024
12561 Pitfalls Of ACR-TIRADS Guidelines for Thyroid Nodules: A Case Study Of Malignant Transformation in a Patient with Graves Disease
Authors: Mathiopoulou Maria
Published: October 2024

Disclosure: M. Mathiopoulou: None.

Introduction: The American College of Radiology Thyroid Imaging Reporting and Data System (ACR TI-RADS) provides standardized guidelines for the assessment and management of thyroid nodules based on ultrasound characteristics. However, the application of these guidelines in patients with Graves disease and evolving nodules presents unique challenges, as illustrated by the following case study. Case Presentation: We present the case of a 30-year-old female patient diagnosed with Graves' disease, who initially presented with two thyroid nodules. The first nodule, classified as ACR-TIRADS 5 and measuring up to 1 cm in the right thyroid lobe, underwent biopsy at the initial assessment, revealing no signs of malignancy. Subsequent ultrasound imaging performed after a 1.5-year interval showed no changes in size or characteristics. However, the second nodule, also located in the right lobe, exhibited newly developed macro- and microcalcifications during the follow-up period, resulting in an upgrade from ACR-TIRADS 4 to ACR-TIRADS 5. Despite its small size (< 1 cm), the evolving characteristics prompted a biopsy, which revealed features consistent with papillary carcinoma. Following total thyroidectomy, histopathological analysis confirmed the presence of papillary carcinoma in both nodules.Discussion: This case underscores the importance of cautious interpretation of ACR TI-RADS guidelines in patients with Graves disease and thyroid nodules. While these guidelines provide valuable risk stratification, they may not fully capture the dynamic nature of nodules in the context of autoimmune thyroid disease. Malignant transformation can occur even in nodules that appear stable or demonstrate benign characteristics on imaging. Therefore, clinicians should exercise clinical judgment and consider additional factors, such as clinical history, biochemical markers, and individualized risk assessment, when managing thyroid nodules in patients with Graves disease. Conclusion: The case highlights the limitations and potential pitfalls of relying solely on ACR TI-RADS guidelines for risk stratification of thyroid nodules, particularly in patients with Graves disease. Clinicians should approach the evaluation and management of thyroid nodules in this population with caution, considering the dynamic nature of nodules and the possibility of malignant transformation despite apparent stability on imaging.

Presentation: 6/2/2024
7786 Successful Use of Lithium in Hyperthyroidism Following a Carbimazole-Induced Agranulocytosis: A Case Report
Authors: SAZON J G , Bawal D V , Chua J V , Reyes J
Published: October 2024

Disclosure: J.G. Sazon: None. D.V. Bawal: None. J.V. Chua: None. J. Reyes: None.

Graves' disease (GD) constitutes a significant proportion of global thyrotoxicosis cases. Carbimazole is an ATD with a notably and a rare yet severe complication of ATD with substantial adverse implications for health, is agranulocytosis. This condition is reversible if recognized early and treated accordingly. We report a case of successful use of lithium prior to radioiodine ablation (RAI) in management of thyrotoxicosis in the context of Carbimazole-induced agranulocytosis. This is a case of a 38-year-old female newly-diagnosed with Graves' Disease presenting with palpitations. Diagnostics showed FT4 >100 (11.9 – 21.6 pmol/L), TSH at <0.005 (0.270 – 4.200 mIU/L) and positive TSH receptor antibodies (TRAb) at 13.9 IU/L (normal value: <1.76 IU/L). Electrocardiogram revealed Atrial Fibrillation. She was initiated on Carbimazole 30 mg/tab OD, Apixaban 10 mg/tab OD, and Bisoprolol 10mg/tab OD. After 28 days of drug-intake, she developed fever (TMax 38.5°C) and work-up revealed severe neutropenia with an ANC of 0. Peripheral blood smear showed agranulocytosis. A seven-day course of piperacillin-tazobactam and moxifloxacin was administered, along with G-CSF at a dose of 300ug BID. Subsequently, was scheduled for Radioactive Iodine (RAI) therapy for definitive treatment. In the interim, with persistent tachycardia and elevated thyroid function tests (FT3 22.20 pmol/L, FT4 47.24 pmol/L) Lithium 450mg/tab BID and Prednisone 40mg/day was initiated, providing significant relief from hyperthyroid symptoms. RAI was administered with a dose of 24mci. Ten days post-RAI, thyroid hormone levels further improved. Four weeks after RAI, repeat tests revealed hypothyroidism. Levothyroxine was initiated at 12.5 mcg and gradually adjusted. Pre-RAI administration of lithium serves to mitigate alterations in serum thyroid hormone concentrations and augments the efficacy of RAI therapy. In this study, the utilization of lithium aimed to regulate thyrotoxicosis and preemptively curtail the elevation of FT4 levels. Lithium emerges as a particularly suitable therapeutic option for patients experiencing adverse effects related to ATDs prior to undergoing definitive therapies such as RAI or thyroidectomy. Furthermore, imperative to the prevention of agranulocytosis, an enhanced understanding of its deleterious effects through patient education is deemed vital.

Presentation: 6/2/2024
8612 Thyrotoxic Periodic Paralysis in Marine-Lenhart Syndrome
Authors: Guatemala Funes Irving Alexis , Tasnim Anika , El-Soufi Yahya , Zahedi Tooraj , Zhang Fan
Published: October 2024

Disclosure: I.A. Guatemala Funes: None. A. Tasnim: None. Y. El-Soufi: None. T. Zahedi: None. F. Zhang: None.

Introduction: Thyrotoxic periodic paralysis (TPP) is a form of periodic muscle weakness that can be present in any form of hyperthyroidism. Patients present with progressive muscle paralysis as a result of acute hypokalemia. It is commonly seen in the Asian population, males more than females. We report a rare case of an Afro-American patient with TPP who also has a suspected coexistence of Graves' disease and functioning thyroid nodule, known as Marine-Lenhart syndrome. Case Report: The patient is a 31-year-old African American man with no past medical history, who presented with progressive generalized weakness predominantly in the extremities with grade 1 muscle strength after a meal high in carbohydrates. CT head, CT angiogram head neck, and MRI spine were unremarkable. Labs revealed hypokalemia 1.8 mmol/L, suppressed TSH < 0.015 uIU/mL, elevated Free T4 2.36 ng/dL, T3 13.5 pg/mL, thyroid stimulating immunoglobulin (TSI) 2.43 IU/L, thyrotropin receptor autoantibodies (TRAb) 2.03 IU/L, and thyroid peroxidase antibodies (TPO) 323 IU/mL. Thyroid ultrasound showed a markedly heterogeneous thyroid gland with bilateral multiple solid nodules, which confirmed the coexistent nodular goiter in Graves' disease. His symptoms improved after receiving Methimazole and electrolytes replacement. However, patient did not take Methimazole after discharge due to abnormal liver function. Five months later, he was readmitted with the similar presentation of progressive weakness and unable to stand up. Labs revealed hypokalemia 2.3 mmol/L, TSH 0.000 uIU/mL, and elevated Free T4 2.41 ng/dL, which suggested TPP. His paralysis resolved with treatment and patient was discharged with a radioactive iodine (RAI) uptake test scheduled to define the diagnosis but he was lost to follow-up. Discussion: The underlying mechanism of TPP is not completely understood. The overstimulation of the NA+/K+ ATPase pumps due to a hyperadrenergic state and elevated insulin level has been described as one of the major reasons along with a decrease in the outward potassium channels. A high carbohydrate intake and demanding exercise are some of the factors that can trigger the episode. The mainstay of therapy for TPP is controlling the hyperthyroidism and potassium replacement which usually resolve the paralysis. Proper differential diagnosis of hyperthyroidism such as Marine-Lenhart syndrome will benefit patients to identify the optimum long-term therapy with thioamides, surgery, or RAI ablation.

Presentation: 6/1/2024
7191 When Pain Is Misdiagnosed: A Case Of Parathyroid Carcinoma Masked As Fibromyalgia
Authors: Pham Huynh , Kumar Pratima V , Taylor Steven
Published: October 2024

Disclosure: H. Pham: None. P.V. Kumar: None. S. Taylor: None.

Parathyroid carcinoma is a rare and aggressive cause of hyperparathyroidism, typically associated with <1% of primary hyperparathyroidism cases. Incidence occurs mainly in the 5th decade of life, with less than 4% of all cases presenting in patients under age 30. Here, we highlight a case involving a 28-year-old woman with fibromyalgia who presented for worsening right shoulder pain in the setting of progressive, poorly characterized pain for the past year. Her initial physical exam was unremarkable aside from a non-tender left sided neck enlargement. However, her laboratory results were significant for corrected serum calcium of 15 mg/dL, serum phosphorus of 2.3 mg/dL, parathyroid hormone (PTH) >2500 pg/mL, and alkaline phosphatase 1604 units/L. X-ray of her right shoulder demonstrated mottled bone concerning for degenerative disease. Thyroid ultrasound revealed a complex cystic lesion posterior to the left thyroid lobe measuring 5.3 x 3.9 x 2.9 cm, worrisome for giant parathyroid adenoma. CT abdomen/pelvis showed diffuse osteosclerosis and innumerable lytic lesions, consistent with osteitis fibrosa cystica, as well as bilateral nephrolithiasis, likely medullary nephrocalcinosis. Her hypercalcemia was treated with aggressive hydration with normal saline and IV pamidronate. She underwent surgical resection of her parathyroid adenoma, which was unfortunately complicated by symptomatic hypocalcemia requiring prolonged care in the ICU. Her calcium levels did improve within a few days, and she was subsequently discharged with close outpatient follow-up. Final pathology report showed predominant thickened trabecular growth pattern with focal vascular invasion consistent with parathyroid carcinoma. Our patient’s case represents a rare presentation of parathyroid carcinoma in a young patient without any additional risk factors. Although atypical, her severe symptomatic hypercalcemia, nephrolithiasis, presence of large neck mass, and diffuse skeletal disease warranted immediate concern for malignant hyperparathyroidism instead of benign adenoma. Delayed diagnosis in our patient led to prolonged bone disease and severe complications. While hungry bone syndrome typically manifests post-parathyroidectomy in patients with end-stage renal disease, our patient experienced this complication in the setting of advanced, untreated hyperparathyroidism. We should consider hypercalcemia and hyperparathyroidism in our differential diagnosis for chronic pain, especially if pain remains uncontrolled with conservative measures. The most appropriate initial test for evaluation of hypercalcemia is a PTH level to distinguish between PTH-dependent and PTH-independent etiologies. Parathyroid carcinoma, even in young patients, should be considered when PTH is >3x upper limit of normal, serum calcium is >14, or skeletal and renal involvement is present.

Presentation: 6/3/2024
5118 When Thyroid Gland Is Not Made Of Thyroid Cells
Authors: Bulut A , Ma L , Noordzij J P , Lee S Y
Published: October 2024

Disclosure: A. Bulut: None. L. Ma: None. J.P. Noordzij: None. S.Y. Lee: None.

Introduction: Neurofibroma is a type of peripheral nerve tumor that can arise sporadically or be a part of neurofibromatosis type 1 (NF1), a rare genetic disorder. Neurofibromas within the thyroid gland are extremely rare. Here, we present the fifth reported case of primary neurofibroma of thyroid gland. Case: A 60-year-old woman with history of systemic lupus erythematosus and hypertension presented with enlargement of left thyroid gland. She was diagnosed with Graves’ disease 40 years ago, which was treated with right thyroid lobectomy one year after the initial diagnosis. Five years after the surgery, she had recurrence of her symptoms and received radioactive iodine ablation with subsequent hypothyroidism. On presentation to endocrine clinic, she had thyroid ultrasound (US), which showed surgically absent right thyroid lobe and enlarged heterogenous left thyroid lobe measuring 5.1 cm x 3.8 cm x 3.9 cm with scant blood flow without discrete nodules. In interim, patient developed dysphagia and globus sensation. Repeat thyroid US showed enlargement of left lobe to 5.6 cm x 3.7 cm x 4.7 cm. Patient underwent completion thyroidectomy. Surgical pathology showed neurofibroma (S-100+, CD34+ and MSA-) without any thyroid parenchyma. Whole-body scan revealed no other evidence of tumors. Patient was referred for genetic analysis. Discussion: Neurofibromas are benign peripheral nerve system tumors primarily consist of Schwann cells along with other components of perineurium. They can occur as a sporadic lesion which accounts for 90% of solitary neurofibroma cases or be a part of NF1 on rare occasions. NF1 is an autosomal dominant genetic disorder due to germline mutation in NF1 gene located on chromosome 17q11.2, whose manifestations include café-au-lait macules, Lisch nodules, skeletal abnormalities, neurological deficits, and other benign and malignant tumors. Neurofibromas are the hallmarks of NF1. There are only few cases in the literature reported neurofibromas adjacent to or originating from thyroid gland. To the best of our knowledge, there have been only four other cases reporting primary neurofibroma of thyroid gland, one of which developed from thyroid capsule. Our patient most likely has primary neurofibroma of thyroid gland given the lack of syndromic features, however, genetic testing is needed in order to rule out NF1. In conclusion, clinicians should consider neurofibroma in their differential in cases of enlarging thyroid gland or nodules, especially in the presence of other clinical features.

Presentation: 6/1/2024
8714 Impact of Adrenalectomy Versus Conservative Therapy On Frailty In Mild Autonomous Cortisol Secretion: A Prospective Multi-Center Cohort Study
Authors: Bassiony Mohamed , Dogra Prerna , Šambula Lana , Saini Jasmine , Ambroziak Urszula , Kastelan Darko , Bancos Irina
Published: October 2024

Disclosure: M. Bassiony: None. P. Dogra: None. L. Šambula: None. J. Saini: None. U. Ambroziak: None. D. Kastelan: None. I. Bancos: None.

Background: Frailty is characterized by a multi-system decline and increased vulnerability to adverse health outcomes. We have recently shown that patients with mild autonomous cortisol secretion (MACS) demonstrate a higher prevalence of frailty compared to patients with nonfunctioning adrenal adenomas (NFA). Objective: To determine the impact of adrenalectomy versus conservative management in patients with MACS, as compared to patients with NFA. Design: Multi-center, prospective cohort study (2019-2023). Methods: Adults with NFA and MACS were assessed for frailty at baseline and 1-year post-adrenalectomy, or conservative follow up. Frailty was assessed by frailty index (FI) that encompasses 47 health variables (comorbidities, symptoms, daily living activities). Patients with FI >0.25 were classified as frail. MACS was defined as post-dexamethasone cortisol>1.8 mcg/dL. Results: Paired frailty assessments were performed in 226 patients (MACS:117 and NFA:109). At baseline, patients’ median age was 63 years (interquartile range, IQR 55-78) and 113 (50%) were women, without differences between patients with MACS vs NFA. In conservatively treated patients with NFA (n=106) and MACS (n=61), baseline FI (median 0.15 vs 0.16, p=0.190) and frailty prevalence (18% vs 20%, p=0.846) were similar between groups. At follow up, patients with MACS demonstrated an increase in FI (mean of 0.013 vs -0.018 in patients with NFA, p=0.009). In conservatively treated patients, and after excluding outliers, post-dexamethasone cortisol positively correlated with a higher delta FI at follow up (estimate 0.015, p=0.01). Compared to conservatively treated, patients with MACS treated with adrenalectomy (n=56) were younger (median age of 58 vs 67 years, p=0.0002), had a similar post-dexamethasone cortisol (median 3.4 vs 2.8 mcg/dL, p=0.853), a higher FI (median 0.26 vs 0.15, p value <0.0001) and frailty prevalence (52% vs 20% P=0.0003) at baseline. At follow up, patients with MACS treated with adrenalectomy showed improved FI when compared to conservatively treated (mean delta FI of -0.025 vs 0.014, p=0.017). Conclusions: Patients with MACS treated conservatively demonstrate an accelerated frailty when compared to patients with NFA. In contrast, frailty improves in patients with MACS treated with adrenalectomy.

Presentation: 6/2/2024
8790 A Case Of Ectopic Cushing’s Syndrome Secondary To Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia (DIPNECH)
Authors: Goettemoeller T , Fanas R Lopez , Cedeno K , Manavalan A
Published: October 2024

Disclosure: T. Goettemoeller: None. R. Lopez Fanas: None. K. Cedeno: None. A. Manavalan: None.

Introduction: Ectopic Cushing’s syndrome is a rare disease accounting for <20% of cases of endogenous Cushing’s syndrome. DIPNECH is a poorly understood lung disease characterized by abnormal proliferation of neuroendocrine cells in the bronchial mucosa. It can be a precursor to pulmonary carcinoid tumors and has rarely been associated with ACTH production. Clinical Case: A 70-year-old female with intellectual disability and hypertension presented with diffuse edema and weakness. Examination was notable for hypertension, anasarca, and hirsutism. In addition to hypokalemia and metabolic alkalosis, hypercortisolism was observed: random serum cortisol - 50.1 ug/dL, late-night salivary cortisol - 1.72 mcg/dL (normal < 0.09 mcg/dL) and 24-hour urine free cortisol - 1,845.9 mcg (normal: 4.0 – 50.0 mcg/24h). Cortisol level remained > 25 ug/dL after high-dose dexamethasone suppression test. Ketoconazole was initiated and titrated to achieve normal 24-hour urine free cortisol levels and spironolactone was added to manage hypokalemia. An MRI of the sella and pituitary was unremarkable while an abdomen and chest CT identified a 2.5 cm well-circumscribed right middle lobe pulmonary nodule and mild thickening of the bilateral adrenal glands. A gallium-DOTATATE scan revealed a 2.1 cm right middle lobe pulmonary nodule with mildly increased uptake. A transbronchial biopsy of the right middle lobe nodule confirmed a carcinoid tumor. Immunohistochemistry (IHC) staining was positive for CHR, SYN, CD56, and AE1/3. Ki-67 stain showed a low proliferative index. A right middle lobectomy was performed with pathology revealing two typical carcinoid tumors measuring 2.8 and 0.7 cm each, with multiple carcinoid tumorlets and foci of neuroendocrine cell hyperplasia consistent with DIPNECH. IHC staining for ACTH was positive in the carcinoid tumors and tumorlets. Four days after surgery, AM cortisol was 8.1 ug/dL and potassium levels and blood pressure normalized off ketoconazole and spironolactone. The patient was discharged, but was readmitted a month later for anasarca, lethargy, hypokalemia, and metabolic alkalosis. A recurrence of Cushing’s syndrome was confirmed, and medical therapy was resumed. A chest CT revealed post-surgical changes. Her course was complicated by an aspiration event, septic shock, PEA arrest, resuscitation, and intubation. The patient’s care was ultimately transitioned to hospice. Conclusion: Florid Cushing’s syndrome due to ectopic ACTH production associated with DIPNECH is an exceedingly rare condition. Early recognition and treatment are crucial to prevent the numerous complications that may arise, and close follow-up after tumor removal is critical to ensure continued remission has been achieved.

Presentation: 6/1/2024
8338 A Case Series Of 3 Patients With Unusual Miliary Lung Metastases In Paraganglioma: Diagnostic Workup, Treatment Challenges And Outcomes
Authors: Charles K M , Nazari M A , Jha A , Derkyi A , Talvacchio S , Kuo M J , Patel M , Prodanov T , Alzahrani A S , Chen A , Glod J , Del Rivero J , Gharib A M , Pacak K
Published: October 2024

Disclosure: K.M. Charles: None. M.A. Nazari: None. A. Jha: None. A. Derkyi: None. S. Talvacchio: None. M.J. Kuo: None. M. Patel: None. T. Prodanov: None. A.S. Alzahrani: None. A. Chen: None. J. Glod: None. J. Del Rivero: None. A.M. Gharib: None. K. Pacak: None.

Background: Pheochromocytomas (PCCs) and paragangliomas (PGLs, together PPGLs) are uncommon neuroendocrine tumors originating from adrenal medulla chromaffin cells and sympathetic/parasympathetic ganglia. Metastatic disease occurs in a subset of PPGLs, ranging from 5% to 30% depending on the underlying genetic factors. Metastases are typically found in the bone, lung, lymph nodes, or liver. Historically, there have been no reported cases of PPGL with miliary pattern of pulmonary metastases. Methods: Three patients were identified with pulmonary metastases. All patients were evaluated between 2016 and 2023, and all developed extensive pulmonary metastatic disease. The evaluation process involved reviewing their medical history, laboratory results, and potential therapeutic approaches. Each patient underwent surgical intervention for the primary tumor and received systemic therapies once metastatic spread was detected. Results: We present three patients with either germline succinate dehydrogenase subunit D (SDHD) or von Hippel-Lindau (VHL) pathogenic variants who developed this rare condition. Patient 1: a 14-year-old female with right PCC and a recurrent left neck PGL carrying VHL type 2 pathogenic variant: VHL c.250G>T (p.Val84Leu) and received various chemotherapies with an unfavorable response. Patient 2: a 23-year-old female with a left jugular PGL carrying SDHD pathogenic variant: SDHD c.124_127delinsA TA (p.Glu42Ilefs*44). Patient 3: a 26-year-old female with a right PCC carrying a germline VHL type 2 pathogenic variant: VHL c.439C>G (p.Leu147Val). The latter two patients experienced disease stabilization through chemotherapy and systemic targeted radiotherapy, respectively. Discussion/Conclusion: This case series is unique as it highlights the rare occurrence of miliary spread of pulmonary metastases resulting from PCC or PGL. It also provides insight into prospective treatments options and outcomes for clinicians administering care within this population of patients. Though it is not clear at this time, this case series may represent a new subset of PPGL that have different genomic features and require a different therapeutic approach.

Presentation: 6/1/2024