Papillary thyroid carcinoma (PTC) represents ~80% of all thyroid cancers, most frequently presenting in women in the third and fourth decade of life. The first clinical manifestation of PTC commonly includes a palpable mass in the thyroid area or cervical lymphadenopathy in cases of metastatic disease. Hematogenous distant metastases are a sign of an advanced stage of the tumour. The present study reported an extremely rare occurrence of solitary metastasis of a PTC in the left breast of a 63-year-old male patient, mimicking primary male breast cancer (MBC). The presence of a male breast lesion that did not follow the typical imaging criteria for MBC aroused suspicion of a different primary origin. The combination of imaging methods, laboratory findings and fine-needle aspiration techniques enabling cytological and histopathological examination, with the use of a wide panel of immunohistochemical markers, is crucial to establishing a definitive and correct diagnosis.

• Publication type
• Journal Article MeSH
• Case Reports MeSH

BACKGROUND: The current requirement is to establish the preoperative diagnosis accurately as possible and to achieve an adequate extent of surgery. The aim of this study was to define the preoperative clinical and molecular genetic risks of malignancy in indeterminate thyroid nodules (Bethesda III and IV) and to determine their impact on the surgical strategy. METHODS: Prospectively retrospective analysis of 287 patients provided the basis of preoperative laboratory examination, sonographic stratification of malignancy risks and cytological findings. Molecular tests focused on pathogenic variants of genes associated with thyroid oncogenesis in cytologically indeterminate nodules (Bethesda III and IV). The evaluation included clinical risk factors: positive family history, radiation exposure and growth in size and/or number of nodules. RESULTS: Preoperative FNAB detected 52 cytologically indeterminate nodules (28.7%) out of 181 patients. Postoperative histopathological examination revealed malignancy in 12 cases (23.7%) and there was no significant difference between Bethesda III and IV categories (P=0.517). Clinical risk factors for malignancy were found in 32 patients (61.5%) and the presence of at least one of them resulted in a clearly higher incidence of malignancy than their absence (31.3% vs. 10.0%, respectively). Pathogenic variants of genes were detected in 12/49 patients in Bethesda III and IV, and in 4 cases (33.3%) thyroid carcinoma was revealed. The rate of malignancies was substantially higher in patients with pathogenic variants than in those without (33.3% vs. 16.2%, respectively). CONCLUSIONS: Our experience implies that molecular genetic testing is one of several decision factors. We will continue to monitor and enlarge our patient cohort to obtain long-term follow-up data.

• MeSH
• Adult MeSH
• Genetic Testing MeSH
• Middle Aged MeSH
• Humans MeSH
• Thyroid Neoplasms * genetics   MeSH
• Retrospective Studies MeSH
• Risk Factors MeSH
• Aged MeSH
• Biopsy, Fine-Needle MeSH
• Thyroid Nodule * genetics   pathology   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

PURPOSE: High-dose intravenous glucocorticoids are the standard first-line treatment in active, moderate to severe and severe thyroid eye disease (TED). We evaluate the usefulness of clinical activity score (CAS) and thyroid-stimulating immunoglobulin (TSI) as predictors and/or post-treatment markers of corticoresistance in patients with TED and the effect of rituximab in second-line treatment. METHODS: We enrolled 236 patients with an active TED into this retrospective single-tertiary-center cohort study. All patients were initially treated with high-dose systemic glucocorticoids. Rituximab was later administered to 29 of 42 corticoresistant patients. RESULTS: The CAS of the corticoresistant patients was significantly higher both before (p = 0.0001) and after (p = <0.0001) first-line treatment compared to the corticosensitive group. ROC analysis established the cut-point value as CAS ≥ 2.5 with a sensitivity of 96.3%, specificity of 57.5% and area under the curve of 82.8%. In 22 patients treated with rituximab, CAS gradually decreased to zero values without reactivation during extended follow-up. There was no difference in the TSI of corticosensitive and corticoresistant patients before or after first-line therapy. CONCLUSION: CAS ≥ 2, after first-line treatment, could be used as a corticoresistance marker. Corticoresistant patients should be subject to long-term follow-up for early detection of reactivation to reduce the delay to second-line treatment. Rituximab is a well-tolerated choice of second-line treatment and has a long-lasting effect on disease activity. Although TSI is a valuable biomarker of Graves' disease and TED activity, according to our results, TSI cannot be used as a marker of corticoresistance.

• MeSH
• Adult MeSH
• Glucocorticoids therapeutic use   MeSH
• Graves Ophthalmopathy * drug therapy   blood   MeSH
• Immunoglobulins, Thyroid-Stimulating blood   MeSH
• Immunologic Factors therapeutic use   MeSH
• Drug Resistance * MeSH
• Middle Aged MeSH
• Humans MeSH
• Retrospective Studies MeSH
• Rituximab * therapeutic use   MeSH
• Aged MeSH
• Treatment Outcome MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Aged MeSH
• Female MeSH
• Publication type
• Journal Article MeSH

PURPOSE: Genetic testing in consanguineous families advances the general comprehension of pathophysiological pathways. However, short stature (SS) genetics remain unexplored in a defined consanguineous cohort. This study examines a unique pediatric cohort from Sulaimani, Iraq, aiming to inspire a genetic testing algorithm for similar populations. METHODS: Among 280 SS referrals from 2018-2020, 64 children met inclusion criteria (from consanguineous families; height ≤ -2.25 SD), 51 provided informed consent (30 females; 31 syndromic SS) and underwent investigation, primarily via exome sequencing. Prioritized variants were evaluated by the American College of Medical Genetics and Genomics standards. A comparative analysis was conducted by juxtaposing our findings against published gene panels for SS. RESULTS: A genetic cause of SS was elucidated in 31 of 51 (61%) participants. Pathogenic variants were found in genes involved in the GH-IGF-1 axis (GHR and SOX3), thyroid axis (TSHR), growth plate (CTSK, COL1A2, COL10A1, DYM, FN1, LTBP3, MMP13, NPR2, and SHOX), signal transduction (PTPN11), DNA/RNA replication (DNAJC21, GZF1, and LIG4), cytoskeletal structure (CCDC8, FLNA, and PCNT), transmembrane transport (SLC34A3 and SLC7A7), enzyme coding (CYP27B1, GALNS, and GNPTG), and ciliogenesis (CFAP410). Two additional participants had Silver-Russell syndrome and 1 had del22q.11.21. Syndromic SS was predictive in identifying a monogenic condition. Using a gene panel would yield positive results in only 10% to 33% of cases. CONCLUSION: A tailored testing strategy is essential to increase diagnostic yield in children with SS from consanguineous populations.

• MeSH
• Algorithms MeSH
• Child MeSH
• Genetic Testing * methods   MeSH
• Humans MeSH
• Adolescent MeSH
• Mutation genetics   MeSH
• Dwarfism genetics   diagnosis   MeSH
• Consanguinity * MeSH
• Growth Disorders genetics   diagnosis   MeSH
• Child, Preschool MeSH
• Pedigree MeSH
• Exome Sequencing methods   MeSH
• Body Height genetics   MeSH
• Check Tag
• Child MeSH
• Humans MeSH
• Adolescent MeSH
• Male MeSH
• Child, Preschool MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Iraq MeSH

BACKGROUND: Treatment of simple goiter (SG) growing over time with thyroid hormone (TH) therapy is discouraged by international guidelines. PURPOSE: To ascertain views of European thyroid specialists about TH treatment for euthyroid patients with growing SG and explore associations with management choice. METHODS: Online survey on the use of TH for growing SG among thyroid experts from 28 European countries. RESULTS: The response rate was 31.5% (5430/17,247). Most respondents were endocrinologists. Twenty-eight percent asserted that TH therapy may be indicated in euthyroid patients with a growing SG. National and regional differences were noted, from 7% of positive responses in The Netherlands to 78% in Czech Republic (p < 0.0001). TH was more frequently prescribed by respondents over 40 years old (OR 1.77, 2.13, 2.41 if 41-50, 51-60, >60, respectively), and working in areas of former iodine insufficiency (OR 1.24, 95% CI 1.03-1.50). TH was less frequently prescribed by endocrinologists (OR 0.77, 95% CI 0.62-0.94) and respondents working in Southern Europe (OR 0.40, 95% CI 0.33-0.48), Northern Europe (OR 0.28, 95% CI 0.22-0.36) and Western Asia (OR 0.16, 95% CI 0.11-0.24) compared to Western Europe. Associations with respondents' sex, country, availability of national thyroid guidelines, and gross national income per capita were absent or weak. CONCLUSIONS: Almost a third of European thyroid specialists support treating SG with TH, contrary to current guidelines and recommendations. This calls for urgent attention.

• MeSH
• Adult MeSH
• Endocrinologists statistics & numerical data   MeSH
• Thyroid Hormones * therapeutic use   MeSH
• Practice Patterns, Physicians' statistics & numerical data   MeSH
• Middle Aged MeSH
• Humans MeSH
• Surveys and Questionnaires MeSH
• Goiter * epidemiology   MeSH
• Check Tag
• Adult MeSH
• Middle Aged MeSH
• Humans MeSH
• Male MeSH
• Female MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Europe MeSH

Tyreopatie a diabetes mellitus 2. typu patria medzi celosvetovo najčastejšie ochorenia v ambulantnej praxi. Vzťah medzi diabetes mellitus 1. typu a ochoreniami štítnej žľazy je známy a popísaný, ale vzťah tyreopatií k diabetu 2. typu nie je doteraz dostatočne objasnený, aj keď súvis medzi nimi odhaľuje stále viac štúdií. Diabetes môže ovplyvňovať funkciu štítnej žľazy aj nepriamo prostredníctvom niektorých perorálnych antidiabetík.

Thyroid diseases and type 2 diabetes mellitus are the two most common endocrinological diseases worldwide. The relationship between type 1 diabetes mellitus and thyroid diseases is known and described, but the relationship between thyreopathies and type 2 diabetes is not clarified sufficiently through that studies manifest increasingly the connection between them. Diabetes also can affect thyroid gland function indirectly by some peroral antidiabetics.

INTRODUCTION: Alopecia areata (AA) is associated with thyroid dysfunction and abnormal levels of thyroglobulin and thyroid peroxidase autoantibodies. One study detected high prevalence of thyrotropin receptor antibodies (TRAbs) in AA patients. Our aim was to investigate the prevalence of TRAb levels in AA patients and to assess their association with thyroid hormones, other thyroid antibodies, AA severity, and other epidemiological variables. METHODS: In this observational study, 139 patients (97 females, 42 males), aged 12 and above, with newly presenting, relapsing, or treatment-resistant AA were included. Medical histories were reviewed, alopecia severity was assessed using the Severity of Alopecia Tool (SALT), and blood tests measured thyroid hormones and autoantibodies. RESULTS: The prevalence of TRAb was significantly higher in AA patients (23.6%) compared to the general population (1-2%) (p < 0.001). Elevated TRAb titers did not correlate with diagnosed thyroid dysfunction or treatment, abnormal thyroid function tests and autoantibodies, AA severity, duration, and onset. Male patients exhibited a significantly higher prevalence of abnormal TRAb titers compared to females (75.0% vs. 21.3%, p = 0.002). CONCLUSION: A significant proportion of AA patients presented with elevated TRAb levels, independent of thyroid hormone titers, other thyroid autoantibodies, or SALT score. Prevalence of abnormal TRAb levels was higher in males.

• Publication type
• Journal Article MeSH

Cílem tohoto článku je seznámit čtenáře s metodami miniinvazivní léčby benigních uzlů štítné žlázy, které zahrnují radiofrekvenční (RFA), mikrovlnnou (MWA), laserovou ablaci (LA) a terapii vysoce intenzivním fokusovaným ultrazvukem (HIFU). Benigní noduly štítné žlázy jsou v populaci velmi častým vedlejším nálezem ultrazvukového vyšetření. V případě, že způsobují pacientům symptomy či u nich dochází k progresi velikosti, je indikováno jejich chirurgické odstranění – částečná nebo totální tyroidektomie. Termální ablace představují novou, v podmínkách Evropy stále častěji využívanou alternativu, která poskytuje dostatečnou účinnost a srovnatelná rizika při léčbě tohoto onemocnění.

The aim of this article is to introduce readers to minimally invasive treatment methods for benign thyroid nodules including radiofrequency ablation (RFA), microwave ablation (MWA), laser ablation (LA) and high-intensity focused ultrasound (HIFU). Benign thyroid nodules are frequently encountered as incidental findings in ultrasound examinations. When they become symptomatic or exhibit progressive growth, surgical removal – either partial or total thyroidectomy – is indicated. Thermal ablation represents an emerging alternative, that is increasingly utilized in Europe and offers good efficacy with a risk profile comparable to surgical treatment.

Amiodaronem indukované tyreopatie představují nemálo závažnou komplikaci léčby tímto často užívaným a potentním antiarytmikem. V klinické praxi se vyskytují 2 základní formy: hypotyreóza a hypertyreóza. Amiodaronem indukovaná tyreotoxikóza se ještě dělí na 1. typ a 2. typ s odlišnou patogenezí, diagnostickým nálezem, a co je pro pacienta nejdůležitější, s různými strategiemi léčby. Jelikož je jejich odlišení někdy velmi obtížné, existuje i patognomická jednotka amiodaronem indukovaná tyreotoxikóza smíšeného typu, která využívá obou odlišných terapeutických strategií, tj. podávání tyreostatik i glukokortikoidů. Amiodaronem indukovaná tyreotoxikóza 1. typu vyžaduje výhledové ukončení podávání amiodaronu, u 2. typu většinou není tento krok nutný. U hypotyreózy postačí substituční léčba levotyroxinem bez nutnosti ukončení antiarytmické léčby amiodaronem. Amiodaronem indukovaná tyreotoxikóza může výrazně zvýšit výskyt kardiovaskulárních komplikací. V případě ukončení léčby amiodaronem čistě z kardiologické indikace dochází u pacientů bez tyreopatie v předchorobí většinou k restituci funkce štítné žlázy, u predisponovaných může dále přetrvávat nebo po opakované jodové zátěži porucha recidivovat.

Amiodarone-induced thyroid dysfunction represents a serious complication of treatment with amiodarone, a frequently used potent antiarrhythmic drug. In clinical practice, there are two main forms: hypothyroidism and hyperthyroidism. Amiodarone-induced thyrotoxicosis is further divided into type 1 and type 2 with different pathogenesis, diagnostic findings and, most importantly for the patient, therapeutic approach. Due to frequent diagnostic overlap, a mixed form of amiodarone-induced thyrotoxicosis is also recognized, requiring a combination of both distinct treatment strategies, antithyroid drugs and glucocorticoids. Amiodarone-induced type 1 thyrotoxicosis necessitates prospective discontinuation of amiodarone therapy; in type 2 this step is usually not warranted. In hypothyroidism, substitution therapy with levothyroxine is sufficient without the need to stop antiarrhythmic treatment with amiodarone. Amiodarone-induced thyrotoxicosis may significantly increase the incidence of cardiovascular complications. If amiodarone treatment is discontinued solely for cardiological indications, patients without a history of thyroid disease usually experience restoration of normal thyroid function. However, in predisposed individuals, dysfunction may persist or recur following repeated iodine exposure.