Thyroid Involvement Research Articles

Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline.

Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases. This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variants. The study included cases whose genetic analysis was performed in accordance with the Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update Guidelines recommendations criteria and analyzed them using the next-generation sequencing panel. 61 Turkish patients from 45 families were included in the study. The overall frequency of variant detection was 37.7% (Out of 45 families, 17 had a positive mutation). Segregation was carried out for all families with positive variants. Variants in the TPO gene are the most frequently encountered, and this situation was identified in 10 families. Variants followed this in the TSHR gene in 7 families, variants in the DUOX2 gene in 5 families, and two variants in the TG and NKX2-1 genes in 2 families each, which are six novel variants. Furthermore, among the NKX2-1 cases, one had thyroid involvement only, while the other had chorea only. We did not find differences between cases with detected mutations and mutation-negative cases regarding gender, neonatal/perinatal parameters, initial thyroid function values, and thyroid morphology. In the current investigation, rare new variations in genes known to be related to CH were discovered, adding to the molecular genetic spectrum. When we compare the overall variant detection frequency, the selection criterion for genetic analysis based on the current guidelines is quite rational, considering the benefits and costs, on the other hand, present in new genes awaiting discovery. Also, TSHR mutations are likely to be common and may account for more than 5% of thyroid dysgenesis cases if we include non-familial thyroid dysgenesis.

Clinicopathological Features of CCDC6-RET and NCOA4-RET Fusions in Thyroid Cancer: A Single-Center Retrospective Cohort Study in a Chinese Population.

Background: The rearranged during transfection (RET) proto-oncogene fusion is common in papillary thyroid cancer (PTC), varying across ethnic groups. However, comprehensive comparisons of RET fusion types are limited. This study aims to identify predominant RET fusions and analyze their clinicopathological characteristics in a cohort of Chinese thyroid cancer cases. Methods: This single-center retrospective cohort study analyzed thyroid cancer data, utilizing next-generation sequencing on formalin-fixed, paraffin-embedded tissue samples. Detailed clinicopathological data of thyroid cancer cases with RET fusions were collected. Results: Among 2300 thyroid cancer cases, RET fusions were exclusively found in PTC or differentiated high-grade thyroid carcinoma (DHGTC) cases (2234 cases), absent in other types (66 cases). Of the 2234 PTC or DHGTC cases, 113 (5.06%) exhibited RET fusions, including 100 primary cases. Coiled-coil domain containing 6 (CCDC6)-RET fusions predominated (78.0%, 78/100), with nuclear receptor coactivator 4 (NCOA4)-RET fusions representing 22.0% (22/100). NCOA4-RET fusions were more prevalent in patients aged 45 years and older (54.5% vs. 28.2%, p = 0.021) and DHGTC cases (p < 0.05) and associated with higher rates of lymph node metastases (90.9% vs. 67.9%, p = 0.032). CCDC6-RET fusion exhibited a higher prevalence of Hashimoto's thyroiditis (HT) (67.9% vs. 22.7%, p < 0.001) and elevated thyroglobulin antibody levels (14.11 [1.86-174.32] IU/mL vs. 2.01 [1.14-15.41] IU/mL, p = 0.018). Moreover, CCDC6-RET fusion predominantly occurred in classical PTC (56.4%, 44/78) and infiltrative follicular PTC (17.9%, 14/78), whereas NCOA4-RET fusion was more frequent in classical PTC (36.4%, 8/22), solid PTC (27.3%, 6/22), and DHGTC (27.3%, 6/22). RET fusions with compound mutations were associated with older age (≥45 years) and bilateral thyroid involvement. Follow-up data showed a higher recurrence rate in the RET fusion group compared with the BRAFV600E mutation group (5.0% vs. 0.0%, p = 0.018). Although the NCOA4-RET group showed a numerically higher recurrence rate compared with CCDC6-RET (9.1% vs. 3.8%), this difference was not statistically significant (p = 0.559). Conclusions: RET fusions are specific to PTC or DHGTC cases among Chinese thyroid cancer cases. CCDC6-RET and NCOA4-RET fusions exhibited distinct clinicopathological features, with NCOA4-RET being more aggressive.

Extralaryngeal Spread in Total Laryngectomy: Comparing the Need for Thyroidectomy.

Objective: At our institution, thyroid preservation during total laryngectomy (TL) varies by surgeon, offering a distinctive dataset to compare disease outcomes in TL patients with or without thyroidectomy. Methods: This retrospective chart review study, conducted at a tertiary referral medical center, comprises patients who underwent TL for laryngeal or hypopharyngeal squamous cell carcinoma from 2014 to 2022. The study includes data on patient demographics, surgeries, pathological staging, tumor subsites, thyroid involvement, and adjuvant therapy. Results: In this study, 147 patients, mostly male (83%) and white (82%), were included. Surgeries comprised 60 hemi thyroidectomies, 35 total or completion thyroidectomies, 48 without thyroid removal, and 4 isthmusectomies. Data analysis compared these 4 groups and the cohort of no thyroid removal (NT) versus any thyroidectomy (T = 99). Among the 99 patients, 27 showed positive gland involvement, primarily due to direct disease extension (26 cases). No significant difference was found in recurrence rates or recurrence-related mortality among the 4 groups or between NT and T (P = .156). However, there was a significant difference in T staging and prognostic staging among the groups and between NT versus T (P = .043). The NT cohort showed a higher likelihood of being T3, while T was more likely to be T4. Conclusion: We found no significant difference in recurrence rates or mortality between TL patients with or without thyroid removal. However, those without thyroid removal often had lower T stages. Notably, 27% of thyroidectomy patients had gland invasion, highlighting the importance of thyroid removal in TL.

Determining the frequency of thyroid involvement in chest CT scans of COVID-19 patients and its correlation with the severity of lung involvement and survival of patients in 2020.

This study aimed to determine the frequency of thyroid gland involvement in chest CT scans of patients with COVID-19 admitted to university-affiliated hospitals and assess its relationship with the severity of lung involvement and patient survival in 2020. In this retrospective cross-sectional study, 1000 PCR-positive patients with COVID-19 who were referred to University-affiliated Hospital in 2020 and had chest CT performed within 72 hours of admission to the hospital were examined. The data was collected by patient file information and CT findings recorded in the PACS system, including thyroid involvement, the severity of lung involvement, and findings related to the death and recovery of patients. The mean age of the examined patients was 56 years. 525 people (52.5%) were men, and 475 (47.5%) were women. 14% had severe pulmonary involvement, and 9.3% had very severe involvement. Moreover, 15.9 percent of them had deceased. 19.7% had focal thyroid involvement, 14% had diffuse involvement, and 66.3% were healthy subjects. Male gender and older age showed a significant relationship with thyroid gland involvement. The severity of lung involvement, the death rate in patients, and hospitalization in ICU were also significantly related to thyroid gland involvement in patients with COVID. This study highlights the importance of considering thyroid-gland involvement in the comprehensive management of COVID-19 patients. Routine screening and monitoring of thyroid-function may facilitate earlier detection and appropriate management of thyroid-related complications, potentially improving clinical outcomes. This study suggests that in COVID-19 infection the monitoring of thyroid function is prudent, particularly in cases of more serious disease.

Evaluation of the risk factors of metastasis to central cervical lymph nodes in patients with papillary thyroid carcinoma.

Papillary thyroid cancer, comprising 80% of thyroid malignancies in iodine-sufficient areas, can be effectively treated if detected early before metastasis. Cervical lymph nodes are a common site of metastasis, prompting some surgeons to suggest prophylactic dissection in all patients. To minimize potential side effects, this study aims to identify patients benefiting from this procedure by assessing risk factors for central lymph node metastasis. This descriptive-analytical study was conducted on 150 patients with papillary thyroid cancer. The samples included cases in which central lymph node involvement was ruled out clinically and radiologically. After proving papillary cancer in the pathology sample, the variables of age, sex, frequency of central lymph node involvement, tumor size, location of thyroid involvement, multi-centric involvement, multi-focal involvement, presence of microcalcification, capsular invasion, lymphovascular invasion, and pathology were analyzed. The results were presented with descriptive statistics. The percentage of central lymph node involvement in this study was reported as 9.3%. In the analysis, capsular invasion (P=0.01), lymphovascular invasion (P=0.0001) and involvement of the upper thyroid pole (P=0.001) were identified as risk factors for central lymph node involvement. There was no significant relationship between the variables of age, sex, tumor size, pathology, multi-centricity and multifocality and central lymph node involvement. Involvement of central lymph nodes in patients with capsular invasion, lymphovascular invasion, and involvement of the upper thyroid bridge is far more common than in other patients, and central lymph node dissection is recommended in patients with several of the above risk factors.

Alemtuzumab infusion-associated reactions and laboratory changes in patients with relapsing-remitting multiple sclerosis at baseline and first-year follow-up

BackgroundAlemtuzumab (ATZ) is an anti-CD52 humanized monoclonal antibody indicated for treating highly active relapsing-remitting MS (RRMS). It alters the regulation of the immune system by depleting circulating lymphocytes. Changes in blood cell count, infusion-related reactions, and changes in vital parameters can be seen in the early period with ATZ. AimChanges in blood tests, serum tests, vital parameters, and characteristics of infusion-associated reactions (IARs) observed during the first course of ATZ treatment and thereafter were evaluated. Materials and methodsThe systolic blood pressure (SBP), diastolic blood pressure (DBP), fever, heart rate (HR), changes in blood and serum tests, and IARs developed after the first course of 23 patients with RRMS who received ATZ treatment were evaluated by comparing the results of 26 patients with RRMS who received only intravenous methylprednisolone. ResultsMean age was 36.60 ± 8.98, 73.9% female (n = 17), diagnosis time was 8.52 ± 3.64 years, pre-EDSS: 3.93 ± 1.80. No significant difference was found in vital parameters except for sub-febrile fever that developed on the first day. The number of white blood cells increased significantly after the first day. The hemoglobin level did not change. Lymphocyte (very high) and platelet (mild) counts decreased starting from the first days, and eosinophil (very high) and monocyte (moderate) counts decreased from the third day. There were no significant changes in liver enzymes, thyroid function tests, serum urea, creatinine, and lipid profile during 1-year follow-up. The IAR rate was 95.6% and occurred most frequently on the second and third days. The most common are dermatological findings (52%), headache (20%), pain (10%) and fatigue (8%). ConclusionAlemtuzumab has no appreciable effect on vital parameters during infusion. However, these changes are not clinically correlated, even if there is. Headache in the first days, dermatological (most common) findings, pain, and fatigue are seen in the following days. Most IARs can be resolved with symptomatic treatment and close follow-up. Lymphocytes, eosinophils, and monocytes are significantly reduced and return to baseline levels towards the end of the first year. The first year does not cause significant pathologies in other serum parameters. However, after the first year, watch out for associated autoimmune pathologies, especially thyroid involvement.

Thyroid dysfunction in COVID-19.

The COVID-19 pandemic has affected over 772 million people globally. While lung damage is the major contributor to the morbidity and mortality of this disease, the involvement of multiple organs, including the endocrine glands, has been reported. This Review aims to provide an updated summary of evidence regarding COVID-19 and thyroid dysfunction, incorporating highlights of recent advances in the field, particularly in relation to long COVID and COVID-19 vaccination. Since subacute thyroiditis following COVID-19 was first reported in May 2020, thyroid dysfunction associated with COVID-19 has been increasingly recognized, secondary to direct and indirect effects on the hypothalamic-pituitary-thyroid axis. Here, we summarize the epidemiological evidence, pattern and clinical course of thyroid dysfunction following COVID-19 and examine radiological, molecular and histological evidence of thyroid involvement in SARS-CoV-2 infection. Beyond acute SARS-CoV-2 infection, it is also timely to examine the course and implication of thyroid dysfunction in the context of long COVID owing to the large population of survivors of COVID-19 worldwide. This Review also analyses the latest evidence on the relationship between the therapeutics and vaccination for COVID-19 and thyroid dysfunction. To conclude, evidence-based practice recommendations for thyroid function testing during and following COVID-19 and concerning COVID-19 vaccination are proposed.

Algorithm for Growth Evaluation in Juvenile Idiopathic Arthritis.

Juvenile Idiopathic Arthritis (JIA) includes a range of inflammatory conditions that exhibit chronic arthritis with various clinical presentations. The disease's heterogeneity leads to different impacts on children's health, both short and long-term. Compromised growth, seen as growth retardation and delayed puberty, is a common complication in children with JIA, severely impacting their quality of life. This impairment is linked to disease duration and activity, with severe cases in systemic and polyarticular subtypes. Literature reports growth retardation incidence from 8% to 41%, but data on pubertal impairment is lacking. Growth in children is influenced by systemic and local mechanisms. Chronic inflammation, prolonged glucocorticosteroid (GCS) use, and nutritional issues contribute to growth stunting and pubertal delays. Chronic inflammation in JIA flattens growth curves, while steroid treatment impairs growth and causes weight gain. Disruption of the GH/IGF1 axis is known, but data on systemic hormonal resistance in JIA are insufficient. Optimizing JIA treatment, including biological therapies, is expected to improve growth velocity and reduce long-term impacts by better disease control and reduced GCS doses. Thyroid function also influences growth and puberty, but comprehensive studies on thyroid involvement in JIA are lacking. Given the early onset of chronic inflammatory consequences, preventive auxological screening measures are necessary for children with JIA. Early detection of developmental disorders can enhance therapeutic management. This article summarizes information from a cohort study on growth in children with JIA and proposes a diagnostic algorithm for clinical use.

Langerhans cell histiocytosis of the thyroid mimicking thyroiditis in a boy: a case report and literature review

BackgroundLangerhans cell histiocytosis affecting the thyroid commonly presents with nonspecific clinical and radiological manifestations. Thyroid Langerhans cell histiocytosis is typically characterized by non-enhancing hypodense lesions with an enlarged thyroid on computed tomography medical images. Thyroid involvement in LCH is uncommon and typically encountered in adults, as is salivary gland involvement. Therefore, we present a unique pediatric case featuring simultaneous salivary and thyroid involvement in LCH.Case presentationA 3-year-old boy with complaints of an anterior neck mass persisting for 1 to 2 months, accompanied by mild pain, dysphagia, and hoarseness. A physical examination revealed a 2.5 cm firm and tender mass in the left anterior neck. Laboratory examinations revealed normal thyroid function test levels. Ultrasonography revealed multiple heterogeneous hypoechoic nodules with unclear and irregular margins in both lobes of the thyroid. Contrast-enhanced neck computed tomography revealed an enlarged thyroid gland and bilateral submandibular glands with non-enhancing hypointense nodular lesions, and multiple confluent thin-walled small (< 1.5 cm) cysts scattered bilaterally in the lungs. Subsequently, a left thyroid excisional biopsy was performed, leading to a histopathological diagnosis of LCH. Immunohistochemical analysis of the specimen demonstrated diffuse positivity for S-100, CD1a, and Langerin and focal positivity for CD68. The patient received standard therapy with vinblastine and steroid, and showed disease regression during regular follow-up of neck ultrasonography.ConclusionsInvolvement of the thyroid and submandibular gland as initial diagnosis of Langerhans cell histiocytosis is extremely rare. It is important to investigate the involvement of affected systems. A comprehensive survey and biopsy are required to establish a definitive diagnosis.

P-82 Riedel's thyroiditis: three-year follow-up under steroid, rituximab and mycophenolate mofetil treatment

Abstract Introduction Riedel's thyroiditis (RT) is an uncommon thyroiditis characterized by fibrosis, macrophage, and eosinophil infiltration and is assumed to be the primary cause of autoimmunity in the pathogenesis. Invasion of the surrounding tissues, particularly the trachea, occurs. RT is also regarded as thyroid involvement in IgG4-related systemic illness. Because there is no conventional medical treatment protocol for RT, this paper aims to highlight the problems we had in diagnosing and our approach throughout therapy. Clinical Case In the last 1.5 years, a 44-year-old female patient on levothyroxine replacement diagnosed with hypothyroidism developed bilateral swelling in the eyes, double vision, drooping eyelids, shortness of breath, and feeling something lodged in the throat. A diffusely enlarged and stiff thyroid gland was palpated in her physical examination. Neck CT revealed a diffusely enlarged thyroid gland 7cm in diameter and constricted trachea. She did not have any constitutional symptoms. According to physical and radiologic exams, preliminary differential diagnoses were anaplastic thyroid carcinoma and IgG4-related thyroiditis. In laboratory tests, TSH: 4.5 mIU/L, st3-4: normal, Anti TPO: +++ TRAB: 0.15 U/L, ANA: Negative, IgG4: 0.52 g/L (0.03-2.01), ACE:21.39. Since the thyroid fine needle aspiration biopsy reported a hypocellular smear, a lacrimal gland biopsy was performed for systemic involvement of IgG4 related disorder's. Her dyspnea was becoming critical; therefore, she was administered 0.5 mg/kg steroid for two weeks before the scheduled bilateral total thyroidectomy, and a considerable decrease in dyspnea, swallowing sensations, and regression in compression findings were seen. Lacrimal biopsies demonstrated persistent inflammation with plasma cells and severe fibrosis, consistent with late-stage IgG4-related illness. Both thyroid lobes were enlarged in neck T1 and T2-weighted MRI images (right lobe was 34×25×68 mm, the left lobe was 35×26×69 mm), diffuse hypointensity was noted, contrast uptake decreased in the thyroid parenchyma following IVCM, and the data was determined to be compatible with RT. The thyroid gland grew markedly on PET-CT, narrowing the air column, with increased FDG absorption in a heterogeneous character (SUVmax: 4.9), and mild-moderate involvement in bilateral lacrimal and parotid glands.The decision was made to continue steroid treatment at 1 mg/kg for one month. Rituximab was given twice every six months while the steroid was lowered. Mycophenolate mofetil (MMF) (2×500 mg) was introduced as a maintenance immunosuppressive medication. The initial radiologic findings regressed in the control neck MRI and PET-CT in the first year. The MRI findings were also steady in the second and third years of MMF. Conclusion Immunosupression therapy with steroid, rituximab and MMF was effective in our RT patient for the long term without significant complications. Clinical and radiological responses similar to surgery can be obtained with immunosuppressive agents.Figure 1.PET-CT and MRI images at diagnosis and third year

Airway Ultrasound Findings in a Rare Case of Parry–Romberg Syndrome

Parry–Romberg syndrome (PRS) is a rare disorder characterised by progressive hemifacial atrophy, along with various neurological and ophthalmological manifestations. Patients with PRS may undergo reconstructive procedures such as fat grafting to address the facial contour deformities. Anaesthesiologists may face significant challenges due to the asymmetric craniofacial structures and the potential presence of neurological deficits, including hemiparesis. We report a case of an 18-year-old male with left-sided hemifacial atrophy and PRS with wasting of one side of the lobe of the thyroid gland who underwent fat grafting under general anaesthesia. The challenges faced during the anaesthetic management of this patient are airway management, positioning and monitoring of neurological deficits. PRS has been reported to coexist with other autoimmune diseases, including thyroid disorders. However, thyroid involvement in PRS is rare. This case used ultrasound to evaluate the airway and assess PRS impact. This case highlights the importance of ultrasound airway, which can serve as an effective tool for identifying associated conditions (like thyroid atrophy) in patients with PRS and can assist in the diagnosis and management of this rare and complex disease.

Correlation of Preoperative Radiological Factors with Histological Involvement of Thyroid Gland in Laryngeal Carcinomas.

Total laryngectomy is the primary treatment for locally advanced laryngeal carcinomas. However, routine thyroid removal (total or hemithyroidectomy) during this procedure is controversial, as the incidence of thyroid gland involvement varies and may lead to lifelong thyroid supplementation, increasing postoperative morbidity. The lack of a consensus on managing the thyroid gland in laryngeal carcinoma cases necessitates improved evaluation techniques, with radiology playing a crucial role in this aspect. Understanding the correlation between radiological factors and histopathological involvement of the thyroid gland can aid in formulating appropriate management strategies during total laryngectomy. To study the correlation of preoperative radiological factors with histopathological involvement of thyroid gland in laryngeal carcinomas. This was a retrospective study which included 57 patients who underwent total laryngectomy for squamous cell carcinoma of larynx. The pre-operative CT findings such as involvement of thyroid cartilage, cricoid cartilage, paraglottic space, anterior commissure, subglottis and thyroid gland along with transglottic extension of tumor were correlated with post-operative histopathological thyroid gland involvement.Cricoid cartilage erosion and thyroid gland involvement in CT scans individually exhibited positive likelihood ratios of 2.58 and 3.23, respectively, demonstrating a reasonable agreement with histopathological findings. The specificity of cricoid cartilage and thyroid gland involvement was also higher with values of 76.4% and 81%, respectively. Moreover, combining thyroid and cricoid cartilage erosion in CT scans as a predictive parameter for thyroid gland involvement resulted in a better likelihood ratio of 8.23 and a fair agreement with histopathological findings. We conclude that cricoid cartilage erosion and thyroid gland involvement in pre-operative CECT can be taken as a preoperative indicator for intraoperative decision on thyroidectomy.

FRI257 Adrenal Insufficiency Secundary Due Immune Checkpoint Inhibitors Therapy

Abstract Disclosure: S.R. Rivera: None. J. Valencia: None. E. Figueroa: None. J. Calisto: None. Background: Immune checkpoint inhibitors (ICIs) are new anticancer immunotherapies that can trigger a variety of immune related adverse events (irAEs) in different organs, including the endocrine system. Adrenal insufficiency is uncommon with a nonspecific clinical presentation that must be recognized in time due to its potential mortality. Clinical Case: 41 year old man diagnosed with papillary renal cell carcinoma. He underwent surgery, performing a ​​right radical nephrectomy plus bilateral lymphadenectomy. He started chemotherapy in March 2022 with ICIs, Nivolumab and Ipilimumab. Three months later he presents with myalgias, fatigue and 6 kilogram weight loss. Physical exam: in regular conditions, vital signs with blood pressure 70/40 mmHg, heart rate 84 bpm, with no signs of hyperpigmentation or dehydration. No evidence of clinical hyperthyroidism. Lab results: low ACTH levels: 6.4 pg/ml (9 - 69 pg/ml), low cortisol: 0.06 µg/dl ( 6.02-18.4 µg/dl), low TSH: 0.1 µU/ml ( 0.4- 4.2 µU/ml) and normal free T4: 1.01 ng/dl ( 0.93-1.7 ng/dl). Antibody tests were negative: anti thyroglobulin, anti TPO and TRAB. Normal thyroglobulin levels. Sellar MRI was requested: normal, metastasis were ruled out. Thyroid ultrasound: normal thyroid gland. Exclusion of exogenous use of corticosteroids and levothyroxine was done. Case was interpreted as an adrenal insufficiency due to hypophysitis with associated thyrotoxicosis. Treatment with hydrocortisone was started, while thyroid function progression was observed. In the following lab control, elevation of TSH was noted. Two months later, we documented elevation of TSH levels: 5 µU/ml and decline of free T4 levels: 0.58 ng/dl, starting levothyroxine supplementation. Patient had a favorable clinical evolution. Conclusion: Adrenal insufficiency due to hypophysitis is uncommon and is mostly linked to Ipilimumab use. In those cases pituitary gland MRI is often normal most of the time. Thyroid involvement, which is frequently seen with Nivolumab therapy, varies from thyrotoxicosis, hyperthyroidism and hypothyroidism. Usually produces chronic damage and needs permanent treatment. The potentially lethal nature of these events makes it essential for oncologists and endocrinologists to be aware of these manifestations in order to achieve early treatment. Presentation: Friday, June 16, 2023

SAT531 Thyroid Metastasis From Non-small Cell Lung Cancer: An Unusual Case Presentation

Abstract Disclosure: E.Y. Ibrahim: None. I. Guillen Alvarez: None. I. Hulinsky: None. D. Regelmann: None. C. Janowiecki: None. Background: Cases of thyroid tumors metastasizing from the lungs are rare, and their diagnosis is often challenging and can be mistaken for primary thyroid tumors or subacute thyroiditis. Thyroid function tests are typically normal and not helpful in establishing the diagnosis. Ultrasonography commonly shows focal or diffuse hypoechoic lesions. Correspondingly, heterogeneous hypodense areas with mild contrast enhancement are seen on CT scans. Clinical Case: Our patient is a 61-year-old male with a history of diabetes mellitus and 40 years tobacco use, who presented with a 1-week history of right-sided weakness and 3-weeks of dry cough. The weakness of his leg progressed to the point he could not ambulate. Initially, he was evaluated for a stroke and underwent CT imaging showing extensive lesions of the bilateral frontal, temporal, and parietal lobes. These findings were suspicious, and confirmed by MRI, to reflect multifocal metastatic lesions with vasogenic edema. Initial physical examination revealed a palpable thyroid nodule in the right lobe with bilateral cervical lymphadenopathy. CT of the neck demonstrated lymphadenopathy as well as multiple bilateral hypoechoic thyroid nodules, the largest of which measured 0.8 cm in the right thyroid lobe. TSH was 0.34 (0.48-4.17mU/L) with Free T4 at 1.39 (0.8-1.90ng/dL). The patient had denied symptoms of heat intolerance, tremor, or palpitations. A CT chest with contrast found a 3.5 cm cavitary lesion in the right upper lobe concerning for a primary lung neoplasm, as well as multiple bilateral lung nodules, mediastinal and hilar lymphadenopathy, and bilateral adrenal masses. Subsequent ultrasound-guided biopsy of the thyroid tumor revealed histologic features of a poorly differentiated non-small cell carcinoma, with features of a primary lung origin. These features were also present on a concurrent fine needle biopsy of an enlarged cervical lymph node. Immunohistochemistry staining showed the tumor was highly expressive for PDL1, focally positive for p40, pancytokeratin AE1/AE3, and negative for TTF-1 and thyroglobulinDue to the vasogenic cerebral edema, he was given dexamethasone with good response, and his weakness improved to the point that patient was able to ambulate. Treatment also included radiation therapy with subsequent pembrolizumab upon completion of radiotherapy. Conclusion: Several thyroid lesions representing metastases may go unnoticed because the physician’s attention toward lesions at other, more common sites, and detailed thyroid examination can be commonly overlooked. Patients with newly diagnosed malignancies should also be screened for thyroid involvement, including detailed physical, radiographic, and histologic examination of pathologic findings. Presentation Date: Saturday, June 17, 2023

Hipofizer disfonksiyonu olan Fabry hastası: alışılmadık bir görünüm

Fabry is a multisystemic disease mainly affecting heart, kidney, central nervous system and endocrine system with intralysosomal glycolipid accumulation. Although thyroid and adrenal gland involvement has been demonstrated in limited studies, glycolipid accumulation in the pituitary could not be exhibited. A 66-year-old female patient diagnosed with Fabry Disease revealed a low level of pituitary hormone levels. Moreover, an empty sella was found in pituitary MRI. We argued that pituitary function seems impaired due to Fabry Disease, and endocrine workup should be periodically performed in patients with Fabry Disease

T-lymphoblastic lymphoma of mediastinal lymph nodes with secondary thyroid involvement in an adolescent

Introduction Among tumors of lymphatic tissue, T-lymphoblastic lymphoma is a rare disease, with children and adolescents being affected more often. The thymus, lymph nodes and various extranodal localizations are involved in the tumor process, but no descriptions of secondary thyroid involvement in the tumor process in children with primary lymphoma of other localizations were found in the available literature.The aim of the study was to describe a rare observation of secondary thyroid involvement in mediastinal lymphoma with deciphering of tumor immunophenotype in an adolescent immunomorphological analysis of surgical material.Materials and methods. We analyzed the archived medical records, data of clinical, laboratory, instrumental and morphological studies of non-Hodgkin’s lymphoma of mediastinal lymph nodes with thyroid involvement. Histological examination of the material stained with hematoxylin and eosin followed by immunohistochemical examination with a set of 16 mono- and polyclonal antibodies was carried out 22 years later on the archive paraffin blocks.Results Morphological examination of the thyroid biopsy specimen and resectate of its isthmus made pathological and anatomical conclusion: non-Hodgkin’s lymphoma of the thyroid gland, prolymphocytic variant. Thanks to an adequately planned program of polychemotherapy, it was possible to achieve long-term remission with a 22-year recurrence-free survival rate. The retrospective data of clinical, instrumental, laboratory investigations and the results of immunohistochemical analysis of the archived tissue material with the help of a panel of 16 mono- and polyclonal antibodies were compared and the following conclusion was made: C83.5 (ICD-O code 9837/3) upper mediastinal lymphocytic T-lymphoma with secondary damage of the thyroid gland. Complete remission after polychemotherapy with a 22-year recurrence-free survival.Discussion It was shown that correctly planned treatment on the basis of competent identification of the histo- and cytogenesis of the tumor in the course of well-coordinated teamwork of specialists of different profile (hematologists, pathologists, chemotherapists, etc.) resulted in a favorable outcome. We managed to achieve a long-term remission with no recurrence of the disease for 22 years. By means of immunomorphological analysis, based on the recommendations of new classification of the haemopoietic and lymphoid tissue tumors, at the present stage of medical science development we managed to decode the tumor immunophenotype, which made more concrete, but not refuted the pathological anatomists’ conclusion, made 22 years ago.Conclusion Analysis of the presented case showed that the tumor immunophenotype corresponded to T-lymphoblastic lymphoma with secondary thyroid involvement. In spite of the fact that in this tumor any extranodal localization is possible, in the available literature we could not find any information about secondary involvement of thyroid in tumor process.

A comparison between bilateral and unilateral thyroid eye disease.

To compare characteristics of unilateral vs. bilateral thyroid eye disease (TED). This retrospective analytical cross-sectional study was conducted on patients with TED who were evaluated at an academic referral center over a 6-year period. We compared demographics, activity (clinical activity score) and severity (EUGOGO classification) of TED, thyroid disease duration, TED duration, the time interval between thyroid and eye involvement, thyroid function status, and clinical signs between bilateral and unilateral TED. Three hundred eighty-three patients including 213 females (55.6%), who had a mean age of 40.23 ± 13.72years, were enrolled. Active TED was seen in 8.8% of bilateral and none of unilateral cases (P = 0.04). Bilateral TED patients had more severe disease (P = 0.001). The distribution of hyperthyroidism, hypothyroidism, and euthyroidism was significantly different between unilateral and bilateral groups (P = 0.001). Abnormal ocular motility was present in 26.3% versus 2.3% of bilateral and unilateral ones, respectively (P = 0.001). Proptosis was more prevalent in bilateral than unilateral cases (P = 0.001). We did not observe any statistically significant difference between the two groups in others variables. Bilateral TED patients present with more severity, activity, movement abnormality, proptosis, and hyperthyroidism.

Multimodal imaging of congenital pyriform fossa fistula in children.

Our aim was to explore the clinical value of multimodal imaging examinations in the diagnosis of congenital pyriform fossa fistula in children, so as to provide clues for the early diagnosis and treatment of congenital pyriform fossa fistula. The clinical and imaging data of 55 children with pyriform fossa fistula diagnosed surgically in our hospital from 2015 to 2018 were analyzed retrospectively. All 55 patients underwent a CT scan. Of those patients, contrast enhancement CT was performed in 47 cases, MRI was performed in 2 cases, and barium esophagography was performed in 41 cases. Among the 55 cases, there were 24 male patients and 31 female patients. The age ranged from 11 months to 13 years old, and the median age was 3.8 years old. The lesions of 49 cases (89.1%) were located on the left side, and the imaging of CT showed soft tissue mass in the anterior cervical region blurred boundary. There was ipsilateral thyroid involvement in 50 cases (90.9%), trachea and/or carotid sheath extension in 43 cases (78.2%), abscess formation in 39 cases (70.9%), and pneumatosis in 25 cases (45.5%). The CT examination of 22 children after treatment showed a linear or tubular low-density shadow in the thyroid gland, gas accumulation in the anterior cervical region or thyroid, and residual contrast medium, partly. A total of 24 cases underwent barium esophagography during the acute phase, and 15 cases (62.5%) showed sinus formation from the pyriform fossa downward or punctate high-density shadow in the anterior cervical region. The 2 cases where MRI was performed showed abscess formation in one side of the neck and thyroid involvement. Pyriform fossa fistula is most common in the left anterior cervical region, and it is closely related to the thyroid gland. The plain and enhanced-contrast CT scan can be used as the first choice during the infection stage. It helps to understand the location, extent, and structure of the surrounding tissue. The preliminary diagnosis of pyriform sinus fistula was according to the imaging features. It provided an important basis for clinical diagnosis and reduced the pain caused by repeated infection or surgical incision and drainage.

An unusual case of a multiple myeloma with thyroid involvement at primary diagnosis

An unusual case of a multiple myeloma with thyroid involvement at primary diagnosis

Kite String Injures During Makar Sankranti Festival

Introduction: Kite flying is a colourful festival; it is unfortunately associated with a significant number of incising injuries of neck and face caused by the kite string (Manja). The emergency departments report a large number of patients with such injuries during this festival. Materials And Methods: Patients presented to the Emergency Department at Civil Hospital, Gandhinagar on 14th and 15th January with neck and face injury caused by contact with kite string were included in study. After careful assessment (primary and secondary survey) patients were classified as Superficial (Laceration limited to the skin and subcutaneous tissue) or Deep injury (breach of the platysma, and damage to muscles, thyroid gland, neurovascular or airway involvement). Results: 20 patients were included in study. Out of which 18 were males and 2 were females. Amongst 18 males 2 were children. Two patients wearing a helmet suffered an injury to the nose. The neck zones involved in the injury, 5 cases involved zone I injury, 9 cases in zone II, 4 cases were in zone III and the remaining 2 had the nasal injury. Conclusion: From this study we conclude that kite string injury lead to serious damage to local tissues. Using protective measures can reduce the incidence and severity of injuries.