Uncommon diagnosis of multinodular goiter - isolated extrapulmonary manifestation of sarcoidosis in thyroid gland (scientific case reports).

AIM: By means of the scientific description of two uncommon cases who underwent. surgical resection of multinodous goiter and following histopathological investigation revealing isolated extrapulmonary manifestation of sarcoidosis, this uncommon diagnosis including symptomatology, clinical findings, diagnostic and therapeutic management is to be illustrated. CASE DESCRIPTIONS: Diagnostics: Scintigraphy of the thyroid gland with a left-thyroid cold node; ultrasound-guided puncture (cytological investigation, non-suspicious). THERAPY: Elective thyroidectomy with no macroscopic anomalies und no abnormal aspects with regard to surgical tactic and technique. Histopathological investigation: Complete resection specimen of the thyroid gland with granulomatous inflammation consistent with sarcoidosis. CLINICAL COURSE: Uneventful with no further manifestations of sarcoidosis in the following diagnostics. DIAGNOSTICS: Ultrasound, inhomogeneous node (37×30×35 mm) of the right thyroideal gland with echo-poor parts and peripheral vascularization; scintigraphy showing marginally compensated unifocal autonomy of the thyroid gland (laboratory parameters, increased serum level of thyroglobulin [632 ng/mL]). THERAPY: Planned right hemithyroidectomy with confirmed nodous structure of thyroid parenchyma, without suspicious lymph nodes. Histopathological investigation: 33-mm follicular, nodular, encapsulated structure of thyroid parenchyma (diagnosed as follicular adenoma); 2nd opinion: low-grade differentiated carcinoma of thyroid gland with angioinfiltrating growth and granulomatous inflammation of sarcoidosis type. Procedural intent: After tumor-board consultation, completing thyroidectomy was performed within a 5-weeks interval (pT2 pN0[0/1] V1 L0 G3 R0) with subsequent ablating radio'active iodine therapy; 18 F-FDG-PET-CT (several atypical infiltrates within the right upper lobe of the lung) and bronchoscopy with no detection of further manifestation of sarcoidosis. CONCLUSION: Sarcoidosis is considered a rare granulomatous multi-locular, systemic disease of not completely known etiopathogenesis with substantial heterogeneity. In most cases, it is associated with the lung, but which can become manifest in various organs. Frequently, extrapulmonary manifestations are usually detected as histological findings by coincidence, which require further investigation to find out additional manifestations as well as to exclude florid infection or other granulomatous processes (clarifying competently differential diagnosis). Therapy is only indicated in symptomatic organ manifestations, taking into account the high rate of spontaneous healing and possible side effects.

Colloid nodular goitre associated with hemiagenesis of the thyroid gland.

Hemiagenesis of the thyroid gland is a rare congenital abnormality usually left unnoticed without associated thyroid disorders. The most common congenital anomaly of the thyroid gland is a thyroglossal cyst, followed by ectopic thyroid tissue and thyroid dysgenesis, which may be agenesis or hemiagenesis. Preoperative underevaluation of the thyroid hemiagenesis (THA) associated with other thyroid disorders may cause intraoperative difficulty in identifying the gland and difficulty in preservation or even identification of major neurovascular structures during neck exploration. We report a patient who presented to us with right-sided neck swelling. On further evaluation and neck exploration, the patient was diagnosed with THA of the left lobe with right colloid goitre.

Long-term effects of radioiodine treatment on thyroid functions and ultrasonographic features in patients with toxic adenoma and toxic multinodular goitre.

OBJECTIVE: This study aimed to investigate the long-term effect of radioiodine (RAI) treatment on thyroid functions and ultrasonographic changes in the thyroid gland and toxic nodules. METHODS: Thyroid function tests and ultrasonography reports of patients diagnosed with toxic adenoma (TA) or toxic multinodular goitre (TMNG) between 2000 and 2021 were retrospectively analysed. RESULTS: We included 100 patients whom thyroid function and ultrasonography results were obtained from our outpatient clinic before and at least 36 months post-RAI. At the end of the follow-up period, the mean thyroid volume reduction in patients with TA and TMNG was 56.6% ± 3.1% and 51.1% ± 6.7%, respectively; the mean volume decrease of all toxic nodules was 80.5% ± 1.9%. The volume of the thyroid and toxic nodules was significantly reduced up to 12 years (p < 0.01). Between 3 and 10 years after RAI therapy, the annual incidence of hypothyroidism was 2.0% and 1.5% in the TA and TMNG groups, respectively. Toxic nodules were more frequently solid and hypoechoic in post-RAI ultrasounds (p < 0.01). CONCLUSIONS: The volume of thyroid gland and toxic nodules continuously decreases, as the risk of hypothyroidism increases up to 10 years after RAI treatment. After RAI treatment, patients should be followed up to check their thyroid functions. In post-RAI examinations, toxic nodules may show ultrasonographic features suspicious for malignancy. History taking should include previous RAI therapies and old scintigraphy scans should be evaluated to avoid unnecessary procedures and non-diagnostic biopsy results.

Hyperthyroidism: aetiology, pathogenesis, diagnosis, management, complications, and prognosis.

Hyperthyroidism is a common condition with a global prevalence of 0·2-1·3%. When clinical suspicion of hyperthyroidism arises, it should be confirmed by biochemical tests (eg, low TSH, high free thyroxine [FT4], or high free tri-iodothyonine [FT3]). If hyperthyroidism is confirmed by biochemical tests, a nosological diagnosis should be done to find out which disease is causing the hyperthyroidism. Helpful tools are TSH-receptor antibodies, thyroid peroxidase antibodies, thyroid ultrasonography, and scintigraphy. Hyperthyroidism is mostly caused by Graves' hyperthyroidism (70%) or toxic nodular goitre (16%). Hyperthyroidism can also be caused by subacute granulomatous thyroiditis (3%) and drugs (9%) such as amiodarone, tyrosine kinase inhibitors, and immune checkpoint inhibitors. Disease-specific recommendations are given. Currently, Graves' hyperthyroidism is preferably treated with antithyroid drugs. However, recurrence of hyperthyroidism after a 12-18 month course of antithyroid drugs occurs in approximately 50% of patients. Being younger than 40 years, having FT4 concentrations that are 40 pmol/L or higher, having TSH-binding inhibitory immunoglobulins that are higher than 6 U/L, and having a goitre size that is equivalent to or larger than WHO grade 2 before the start of treatment with antithyroid drugs increase risk of recurrence. Long-term treatment with antithyroid drugs (ie, 5-10 years of treatment) is feasible and associated with fewer recurrences (15%) than short-term treatment (ie, 12-18 months of treatment). Toxic nodular goitre is mostly treated with radioiodine (131I) or thyroidectomy and is rarely treated with radiofrequency ablation. Destructive thyrotoxicosis is usually mild and transient, requiring steroids only in severe cases. Specific attention is given to patients with hyperthyroidism who are pregnant, have COVID-19, or have other complications (eg, atrial fibrillation, thyrotoxic periodic paralysis, and thyroid storm). Hyperthyroidism is associated with increased mortality. Prognosis might be improved by rapid and sustained control of hyperthyroidism. Innovative new treatments are expected for Graves' disease, by targeting B cells or TSH receptors.

[Surgical treatment of a patient with stage v multinodular toxic goiter, severe thyrotoxicosis, strangulation syndrome and severe comorbidities]. / Khirurgicheskoe lechenie patsientki s mnogouzlovym toksicheskim zobom V stepeni, tireotoksikozom tyazheloi stepeni, kompressionnym sindromom i tyazhelymi soputstvuyushchimi zabolevaniyami.

The authors describe thyroidectomy in a patient with multinodular toxic goiter stage V, severe thyrotoxicosis complicated by thyro-cardiac disease, strangulation syndrome and severe comorbidities. Nodular euthyroid goiter was first diagnosed in 1992, and resection of the right thyroid lobe was performed. Progressive enlargement of thyroid gland and thyrotoxicosis occurred after coronavirus infection in February, 2020. Along with progression of thyrotoxicosis and strangulation of cervical organs, the patient suffered from portal vein thrombosis, pulmonary embolism. Myeloproliferative disease with essential thrombocythemia was also diagnosed. Volume of the right and left thyroid lobes was 69 and 101.3 cm3, respectively. X-ray examination of the esophagus revealed narrowing at C6 level up to 5-8 mm. Surgery time was 2 hours, dimension of removed right thyroid lobe - 10.0×7.5×6.5 cm, left thyroid lobe - 11.0×6.5×5.5 cm, total weight - 348 g. The patient was discharged in 6 days after surgery.

Anti-nuclear autoantibodies in Graves' disease and Graves' orbitopathy.

OBJECTIVE: A relationship between thyroid and non-organ-specific autoimmunity could be relevant for Graves' orbitopathy (GO), which affects connective tissue. We investigated the association between GO and anti-nuclear antibodies (ANAs). METHODS: Retrospective investigation was conducted in 265 patients with Graves' disease (GD), 158 with and 107 without GO. Primary outcome was: prevalence of ANAs in GO vs no-GO. Secondary outcomes were: (1) relationship between ANAs and GO features; (2) prevalence of ANAs in GD compared with non-autoimmune hyperthyroidism [(78 patients with toxic nodular goiter (TNG)]; (3) distribution of ANA patterns. RESULTS: ANAs were detected in 212 (80%) GD patients, but prevalence did not differ between GO (79.7%) and no-GO (80.3%). Higher ANA titers (1:160) were more common in GO (51.5 vs 38.3%), but only nearly significantly (OR 0.5; 95% CI: 0.3-1; P = 0.059). Proptosis was lower in ANA-positive patients (mean difference: - 1.4 mm; 95% CI from - 2.5 to - 0.3; P = 0.011), in whom nearly significantly lower CAS (Mann-Whitney U: 1.5; P = 0.077) and eyelid aperture (mean difference: - 0.9 mm; 95% CI from - 2 to 0; P = 0.062) were observed. Prevalence of ANAs in GD was lower than in TNG (80 vs 91%; OR 0.3; 95% CI: 0.1-0.9; P = 0.028), but nuclear speckled pattern was more frequent (OR 22.9; 95% CI 1.3-381.3; P = 0.028). CONCLUSIONS: Although ANAs are not more frequent in GO, they seem to exert a protective role on its severity and on development of GD. A switch of T cell population in ANA-positive patients, resulting in a different phenotype, may be responsible. Further studies are needed to investigate the mechanisms.

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.

RATIONALE: Pendred syndrome is an autosomal recessive disorder characterized by sensorineural hearing loss, inner ear malformations, goiter, and abnormal organification of iodide. It is caused by mutations in SLC26A4 gene, which encodes pendrin (a transporter of chloride, bicarbonate, and iodide). Pendred syndrome is a common cause of syndromic deafness, but the metabolic abnormalities it causes are often overlooked. Here, we report the case of a patient diagnosed with Pendred syndrome with hypokalemia. PATIENT CONCERNS: A 53-year-old deaf-mute woman was hospitalized due to severe limb asthenia. The emergency examination showed that her blood potassium level was 1.8 mmol/L. DIAGNOSES: Through the genetic test, we found a mutation of SLC26A4 gene in NM_000441: c.2027T>A, p.L676Q, as well as the SLC26A4 exon 5-6 deletion. These genetic variations pointed to Pendred syndrome (an autosomal recessive disorder that mainly affects the inner ear, thyroid, and kidney) which is a common cause of syndromic deafness. INTERVENTIONS: The patient was treated with potassium supplements and screened for the cause of hypokalemia. OUTCOMES: The patient was discharged after her potassium levels rose to the normal range. LESSONS: Patients with Pendred syndrome may also have certain metabolic abnormalities; thus, more attention should be paid to them during clinical diagnosis.

Case report: coexistence of primary hyperparathyroidism with giant toxic nodular goiter.

BACKGROUND: The coexistence of primary hyperparathyroidism (PHPT) and giant toxic nodular goiter is very rare. Moreover, PHPT could be easily overlooked because hyperthyroidism may also lead to hypercalcemia. A 99mTc-MIBI scan of the parathyroid glands is often negative when they are concomitant. CASE PRESENTATION: Here, we report a rare case of the coexistence of giant toxic nodular goiter and PHPT that had been ignored for many years but was successfully treated with an ultrasound-guided parathyroid adenoma microwave ablation (MWA). CONCLUSION: Reoperation for PHPT carries an increased risk of cure failure and complications. Thermal ablation has been proven effective in inactivating hyperfunctioning parathyroid lesions and in normalizing both serum parathyroid hormone (PTH) and calcium.

[Epidemiology of benign thyroid disorders in the adult population of the Republic of Belarus: analysis of nationwide statistics 2009 to 2019].

BACKGROUND: Nowadays, the Republic of Belarus belongs to the countries with sufficient iodine supply, which made it possible to reduce the incidence of non-toxic goiter and congenital hypothyroidism. However, even a slight change in iodine consumption influences the pattern of thyroid diseases. In addition to iodine deficiency, other environmental conditions, as well as genetic factors, play a significant role in the etiology of thyroid diseases. AIM: To analyze the dynamics of the main epidemiological indicators of benign thyroid diseases from 2009 to 2019 in the adult population of the Republic of Belarus, using the data of official state statistics. MATERIALS AND METHODS: The indicators of the incidence and prevalence of benign thyroid diseases were studied on the basis of state statistics for 2009-2019. To analyze the dynamics of the studied indicators, regression analysis was used with the construction of linear and polynomial models. RESULTS: A decrease in the incidence and prevalence of diffuse euthyroid goiter and an increase in the incidence and prevalence of nodular euthyroid goiter, thyroiditis, acquired hypothyroidism, Graves' disease, as well as the incidence of nodular toxic goiter were revealed. CONCLUSION: Obtained data indicate, that there is an increase in the prevalence of most of the studied thyroid diseases, despite the adequate iodine supply. The above justifies the need for further study of the causes of the identified trends, as well as the necessity of developing new methods of diagnosis and treatment of thyroid diseases.

Incidence and Risk Factors of Thyroid Malignancy in Patients with Toxic Nodular Goiter.

Background: Although hyperfunctioning thyroid disorders were thought to be protective against malignancy, some recent studies reported a high incidence of incidentally discovered cancer in patients with hyperfunctioning benign thyroid disorders. We performed this study to estimate the incidence and predictors of malignant thyroid disease in patients with toxic nodular goiter (TNG). Patients and Methods. The data of 98 patients diagnosed with TNG were reviewed (including toxic multinodular goiter SMNG and single toxic nodule STN). The collected data included patients age, gender, systemic comorbidities, family history of thyroid malignancy, previous neck radiation, type of disease (multinodular or single), size of the dominant nodule by the US, operative time, and detection of significant lymph nodes during operation. Based on the histopathological analysis, the cases were allocated into benign and malignant groups. Results: Malignancy was detected in 21 patients (21.43%). Although age distribution was comparable between the two groups, males showed a significant increase in association with malignancy. Medical comorbidities and family history of cancer did not differ between the two groups. However, TMNG showed a statistically higher prevalence in the malignant group. Operative data, including operative time and lymph node detection, were comparable between the two groups. On regression analysis, both male gender and TMNG were significant predictors of malignancy. Conclusion: The presence of thyroid hyperfunction is not a protective factor against malignancy, as malignancy was detected in about 1/5 of cases. Male gender and TMNG were significant risk factors of malignancy in such patients.

Investigation of the Relationship Between Autoimmune and Nodular Goiter in Patients with Euthyroid Polycystic Ovary Syndrome and Their Phenotypes.

Polycystic ovary syndrome (PCOS) is an endocrine disorder that frequently affects women of reproductive age. In PCOS, the incidence of thyroid diseases has increased in addition to reproductive and metabolic problems. To compare thyroid nodule, volume, autoimmunity, and thyroid function tests of euthyroid PCOS and its phenotypes. The files of 178 patients with PCOS aged 18-45 years and 92 patients with no disease who were matched for body mass index were retrospectively scanned. Women with PCOS were divided into four phenotypes, ABCD. Anti-TPO titer and prevalence, fT3, and thyroid volume were higher in the PCOS group compared with the control group in terms of anti-Tg levels, presence of nodules, and the number of nodules. There was no statistical difference between the PCOS group and the healthy controls. The number of nodules of 1 cm and above was found to be higher only in patients with PCOS compared with the control group. When the phenotypes were examined, thyroid dysfunction features were found in phenotype A, which was the most prominent. Thyroid autoimmunity, thyroid volume, and the number of nodules larger than 1 cm increased in patients with PCOS compared with controls. This situation is thought to be caused by the reproductive and metabolic properties of PCOS because thyroid dysfunction was detected more in phenotype A, which is called the full phenotype. Therefore, all patients with PCOS, especially phenotype A, should be evaluated for the presence of nodules with autoimmunity using USG, even if there are no symptoms, and thyroid functions.

Presentation and Management Outcomes of Goitres at a District Hospital in Abuja, North Central Nigeria: A 15-Year-Review.

BACKGROUND: The clinical and pathologic spectrums of goitres are wide. Even though Nigeria's Federal Capital Territory is within the geographic goitre bed, there is a paucity of thyroidrelated data from this region. The objective of this study was to determine the clinical presentation, management and outcomes of patients with goitre operated-on at the Department of Surgery, Asokoro District Hospital, in Abuja, Nigeria. METHODOLOGY: This is a retrospective study involving patients managed between January 2001 and December 2015. Data were extracted from patients' medical records, operation registers, and histopathology records. Variables were; age, sex, diagnosis, types of operation performed, post-operative complications and histological findings. All patients had general anaesthesia via cuffed endotracheal intubation and the surgical technique used was skin crease transverse collar stud incision. RESULTS: One hundred and thirty four (134) patients were involved in the study: 124(92.5%) were females and 10(7.5%) males. Mean age was 38years±11.0SD. Seventy-seven (57.5%) patients had simple multi-nodular goitre, followed by simple left nodular goitre 20(14.9%) and simple right nodular goitre 17(12.7%). One hundred and twenty-one (90.5%) patients did not have any complications. On histologic examination, most of the lesions were multinodular goitres 60(44.8%), followed by simple nodular goitres, 23(17.2%). Follicular adenoma was the commonest neoplastic variant accounting for 12(9.1%) cases. CONCLUSION: The pattern of goitres in Abuja simulates that from other parts of Nigeria and many other African countries though with fewer malignancies in the present study. The management and outcome of goitres in Asokoro District Hospital Abuja is comparable to those obtained from other centres in Nigeria. Pre-and postoperative complications were also minimal.

CONTEXTE: Le spectre clinique et pathologique des goitres sont larges. Bien que le territoire de la capitale fédérale du Nigeria se trouve dans le lit géographique du goitre, il y a peu de données sur la thyroïde dans cette région. L'objectif de cette étude était de déterminer la présentation clinique, la gestion et les résultats des patients atteints de goitre opérés au département de chirurgie de l'hôpital du district d'Asokoro, à Abuja, au Nigeria. MÉTHODOLOGIE: Il s'agit d'une étude rétrospective portant sur des patients pris en charge entre janvier 2001 et décembre 2015. Les données ont été extraites des dossiers médicaux des patients, des registres d'opérations et des dossiers d'histopathologie. Les variables étaient : l'âge, le sexe, le diagnostic, les types d'opérations pratiquées, les complications postopératoires et les résultats histologiques. Tous les patients ont bénéficié d'une anesthésie générale par une intubation endotrachéale à ballonnet, et la technique chirurgicale utilisée était l'incision transversale du pli cutané incision du collet. RÉSULTATS: Cent trente-quatre (134) patients ont participé à l'étude: 124 (92,5%) étaient des femmes et 10 (7,5%) des hommes. L'âge moyen était de 38 ans±11,0SD. Soixante-dix-sept (57,5 %) patients présentaient un goitre simple et multi-nodulaire, suivi d'un goitre nodulaire simple gauche 20(14,9%, et le goitre nodulaire simple droit 17 (12,7 %). Cent vingt et un (90,5 %) patients n'ont présenté aucune complication. A l'examen histologique, la plupart des lésions étaient des goitres multinodulaires 60(44,8%), suivis par des goitres nodulaires simples, 23(17,2%). L'adénome folliculaire était la variante néoplasique la plus courante avec 12 cas (9,1 %). CONCLUSION: Le modèle de goitres à Abuja simule celui d'autres régions du Nigeria et de nombreux autres pays africains, bien qu'avec moins de tumeurs malignes dans la présente étude. La gestion et le résultatmde goitres à l'hôpital du district d'Asokoro à Abuja sont comparables à celles obtenus dans d'autres centres au Nigeria. Les complications pré et postopératoires étaient également minimes. Mots-clés: Goitres, modèle, résultat de la gestion, Abuja.

Clinical Characteristics and Predictors Related to the Progression of Multinodular Goiter Causing Tracheal Compression and Deviation: A Report of Two Cases and Review of the Literature.

We describe the clinical course of two patients who developed tracheal compression and deviation by multinodular goiter (MNG). Case 1: A 66-year-old woman presented with thyroid swelling. Five years after the initial admission, she was diagnosed with hyperthyroidism by Graves' disease and increased bilateral thyroid lobes compressing the trachea. Thyroglobulin was elevated from 210 to 472 ng/mL. Case 2: A 52-year-old woman presented with thyroid swelling. Five years after the initial admission, the increased right lobe deviated the trachea and compressed the right recurrent laryngeal nerve. Thyroglobulin was elevated from 122 to 392 ng/mL. Two cases and literature review indicated that MNG with >50 mm, solid components, and extension to the mediastinum or paralarynx were risk factors of tracheal compression and deviation. Monitoring thyroglobulin elevation can help predict the clinical course.

Gene expression profile in functioning and non-functioning nodules of autonomous multinodular goiter from an area of iodine deficiency: unexpected common characteristics between the two entities.

PURPOSE: Toxic multinodular goiter is a heterogeneous disease associated with hyperthyroidism frequently detected in areas with deficient iodine intake, and functioning and non-functioning nodules, characterized by increased proliferation but opposite functional activity, may coexist in the same gland. To understand the distinct molecular pathology of each entity present in the same gland, the gene expression profile was evaluated by using the Affymetrix technology. METHODS: Total RNA was extracted from nodular and healthy tissues of two patients and double-strand cDNA was synthesized. Biotinylated cRNA was obtained and, after chemical fragmentation, was hybridized on U133A and B arrays. Each array was stained and the acquired images were analyzed to obtain the expression levels of the transcripts. Both functioning and non-functioning nodules were compared versus healthy tissue of the corresponding patient. RESULTS: About 16% of genes were modulated in functioning nodules, while in non-functioning nodules only 9% of genes were modulated with respect to the healthy tissue. In functioning nodules of both patients and up-regulation of cyclin D1 and cyclin-dependent kinase inhibitor 1 was observed, suggesting the presence of a possible feedback control of proliferation. Complement components C1s, C7 and C3 were down-regulated in both types of nodules, suggesting a silencing of the innate immune response. Cellular fibronectin precursor was up-regulated in both functioning nodules suggesting a possible increase of endothelial cells. Finally, Frizzled-1 was down-regulated only in functioning nodules, suggesting a role of Wnt signaling pathway in the proliferation and differentiation of these tumors. None of the thyroid-specific gene was deregulated in microarray analysis. CONCLUSION: In conclusion, the main finding from our data is a similar modulation for both kinds of nodules in genes possibly implicated in thyroid growth.

Prevalence and predictors of thyroid cancer among thyroid nodules: a retrospective cohort study of 1,000 patients.

INTRODUCTION: Thyroid cancer is increasing in incidence globally due either to early detection (overestimation) or true increment. A recent debate concerns multinodular goitre (MNG) or toxic goitres which have classically been considered at a lower risk for cancer. METHODS: In this study, we enrolled retrospectively all patients with nodular goitre treated at our tertiary hospital and analysed their data with the aim of detecting the rate of cancer among different types of nodular goitre. We also studied predictors of incidental malignancy among thyroidectomies. RESULTS: A predilection for solitary thyroid nodules (STNs) was found in women of younger age, with STNs tending to be larger in comparison with MNG in the same age group. However, both types of nodules were at equal risk of harbouring malignancy. Thyroid Imaging Reporting and Data System (TI-RADS) and Bethesda scores were the only dependent predictors of malignancy within thyroid nodules. CONCLUSION: The authors recommend management of both STNs and MNG using the same algorithm.