European Thyroid Journal最新文献

{"title":"Intramuscular and Subcutaneous Levothyroxine: Success in Treating Refractory Hypothyroidism.","authors":"Nadia Chaudhury, Winston Crasto, Ponnusamy Saravanan, Vinod Patel","doi":"10.1530/ETJ-25-0012","DOIUrl":"10.1530/ETJ-25-0012","url":null,"abstract":"<p><strong>Introduction: </strong>Refractory hypothyroidism often poses a clinical problem as treatment regimens are difficult to individualise to the patient and feasibility of its delivery is difficult to organise within a health care system. We present a patient who became intolerant of intramuscular (IM) levothyroxine (LT4) after 18 years of treatment, thus subcutaneous (SC) LT4 was initiated.</p><p><strong>Case presentation: </strong>13-year-old female with newly-diagnosed hypothyroidism, remained hypothyroid despite escalating doses of oral LT4 and LT3. Thyroxine malabsorption was further suggested by nasogastric administration of LT4, whereby high dose thyroxine administration resulted in only 2.8 pmol/L increase in free T4 level (normal >5.14pmol/L). She eventually achieved long-term euthyroid status at age of 18 with fortnightly IM LT4, alongside oral LT4 and LT3. This was maintained for 18 years. Unfortunately, scar tissue developed around injection sites, resulting in increased pain and difficulty of administration. SC LT4 was trialled with success, and she has remained euthyroid for the last six years with self-administration and minimal side effects.</p><p><strong>Conclusion: </strong>Refractory hypothyroidism often presents a challenge for clinicians, both for diagnosis and management. We discuss a patient with longest follow-up to-date within the published literature for both IM and SC LT4 for patient-administered treatment of refractory hypothyroidism and review the literature on alternative formulations available.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Anticancer Drug Therapy for Anaplastic Thyroid Cancer.","authors":"Naomi Kiyota, Taiji Koyama, Iwao Sugitani","doi":"10.1530/ETJ-24-0287","DOIUrl":"10.1530/ETJ-24-0287","url":null,"abstract":"<p><p>Anaplastic thyroid cancer is one of the rarest subtypes of thyroid cancer, accounting for only 1-2% of all thyroid cancer cases. It is also one of the most aggressive: prognosis remains dismal, and the disease-specific mortality rate is close to 100% This rarity has markedly limited the availability of prospective trial results, and no standard chemotherapeutic option for unresectable or metastatic anaplastic thyroid cancer has yet been established. Nevertheless, combination therapy with a BRAF inhibitor and MEK inhibitor has shown encouraging efficacy in patients with BRAF V600E-mutated anaplastic thyroid cancer. Other novel treatments such as immune checkpoint inhibitors have also shown promise. Owing to these therapeutic advances, the prognosis of anaplastic thyroid cancer appears to be gradually improving. However, further development of novel treatments for this rare malignancy requires the development of substantial infrastructure for international collaborative study.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751796","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CHANGING THE PARADIGM: LOBECTOMY FOR SPORADIC MEDULLARY THYROID CANCER.","authors":"Marina Lugaresi, Claudia Moneta, Giulia Saruggia, Gianlorenzo Dionigi, Giacomo Gazzano, Laura Fugazzola","doi":"10.1530/ETJ-25-0040","DOIUrl":"10.1530/ETJ-25-0040","url":null,"abstract":"<p><strong>Objectives: </strong>Total thyroidectomy is the treatment of choice for medullary thyroid cancer (MTC) though the sporadic forms are usually monocentric. Aim of the present study was to evaluate a) the performance of calcitonin (Ct) levels, ultrasound scans (US), and cytology in the preoperative identification of MTC and b) the number of total thyroidectomies that could have been avoided being the location of the MTC diagnosed preoperatively.</p><p><strong>Materials and methods: </strong>We retrospectively analysed 89 RET germline negative patients diagnosed with MTC in the last 30 years, treated with total thyroidectomy ± lymphadenectomy, and followed in our Tertiary Care Center. In a subgroup of 55 patients, divided in those with a mono- or bilateral goiter, we applied ex-post criteria for the pre-surgical identification of the lobe holding the MTC nodule.</p><p><strong>Results: </strong>Only 2/89 patients (2.2%) had a bilateral MTC at histology. A strongly significant correlation was found between preoperative basal Ct levels and MTC size. According to the ex-post identification criteria, the 84.4% and 56.5% of the nodules would have been identified preoperatively as MTC, in monolateral and bilateral goiters respectively.</p><p><strong>Conclusions: </strong>This is the first European study that aims to evaluate the feasibility of lobectomy as first line therapy for MTC based on the evaluation of thyroid US, and serum Ct levels. These tools have been shown to have a good accuracy in detecting the affected lobe and strongly support the possibility to perform a more conservative surgery to treat RET-negative patients with suspicious MTC and nodular goiter.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric differentiated thyroid carcinoma leading to fatal lung fibrosis.","authors":"Michaela Kuhlen, Marina Kunstreich, Friederike Eilsberger, Markus Luster, Antje Redlich","doi":"10.1530/ETJ-24-0341","DOIUrl":"10.1530/ETJ-24-0341","url":null,"abstract":"<p><strong>Introduction: </strong>This case report aims to discuss the development of fatal lung fibrosis in a young boy following treatment of metastasized differentiated thyroid carcinoma (DTC).</p><p><strong>Case presentation: </strong>A 3.6-year-old boy was diagnosed in year 1995 with papillary thyroid carcinoma with extensive metastases. He underwent total thyroidectomy and received multiple courses of radioactive iodine (RAI) therapy between September 1995 and February 1998. The patient received six courses of RAI therapy within 30 months, cumulatively amounting to 10 GBq 131I, in response to significantly elevated thyroglobulin levels and morphologically persistent miliary lung metastases. Despite the significant regression of his metastatic disease, the patient exhibited progressive lung fibrosis 2.75 years after the sixth RAI therapy. This condition ultimately led to respiratory failure and resulted in the patient's death 6.7 years following the initial diagnosis.</p><p><strong>Discussion/conclusion: </strong>This case highlights the potential severe complications associated with several courses of RAI therapy in young children suffering from extensive lung metastases and underscores the need for careful treatment planning and long-term monitoring. Given the risks of RAI therapy, particularly the risk of fatal lung fibrosis, it is crucial to tailor RAI therapy carefully, especially in young patients. Notably, thyroglobulin levels can decrease even after cessation of RAI therapy, indicating that levels immediately post-therapy are not necessarily representing the development of the response over the following months.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"14 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11896646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening for central congenital hypothyroidism: past, present and future.","authors":"Mark R Garrelfs, Christiaan F Mooij, Anita Boelen, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala","doi":"10.1530/ETJ-24-0329","DOIUrl":"10.1530/ETJ-24-0329","url":null,"abstract":"<p><p>Congenital hypothyroidism (CH) is defined as thyroid hormone deficiency at birth and constitutes one of the most common causes of preventable intellectual disability worldwide. Central CH is caused by insufficient pituitary or hypothalamic control of thyroid function, biochemically characterized by a low serum free thyroxine (fT4), in combination with a low, normal or mildly elevated thyroid-stimulating hormone (TSH). Central CH is less common than primary CH and is part of multiple pituitary hormone deficiencies (MPHD) in most of the cases. MPHD at birth, also known as 'congenital hypopituitarism', is a potentially life-threatening condition due to the possible co-occurrence of adrenocorticotropin hormone and growth hormone deficiency that can result in severe hypoglycemia and adrenal crisis. To date, central CH is the only pituitary hormone deficiency suitable for newborn screening (NBS), providing an opportunity for early detection of MPHD. Even though the first NBS programs utilized T4-based methods that were able to identify central CH, most countries have since transitioned to TSH-based approaches due to the high rate of false positives associated with T4-based strategies. Now, 50 years after the introduction of NBS for CH, only a few countries around the world have a screening program capable of detecting central CH. In this paper, we review the past, present and future of NBS for central CH. We will outline the importance of early detection of central CH and discuss the challenges and opportunities of screening for this condition.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11883867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143364161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Higher prevalence of gestational diabetes in euthyroid women with thyroid autoimmunity who were expecting a female fetus.","authors":"Madhu Prasai, Manon Lomré, Emna Jelloul, Pierre Kleynen, Flora Veltri, Georgiana Sitoris, Lidia Grabczan, Serge Rozenberg, Kris G Poppe","doi":"10.1530/ETJ-24-0339","DOIUrl":"10.1530/ETJ-24-0339","url":null,"abstract":"<p><strong>Objective: </strong>In the general population, women pregnant with a male fetus (MF) have a higher prevalence of gestational diabetes mellitus (GDM) compared with those pregnant with a female fetus (FF). Some studies suggest a higher prevalence of GDM in euthyroid pregnant women with thyroid autoimmunity (TAI+) compared with women without TAI (TAI-). However, whether the impact of TAI on GDM correlates with fetal gender has not been documented.</p><p><strong>Design/methods: </strong>A single-center cohort study including 1201 women who were screened at a median of 12 (11-14) weeks of pregnancy for thyroid disorders (TSH, free T4 and thyroid peroxidase antibodies (TPOAb)) and at 24-28 weeks for GDM with an oral glucose tolerance test. Exclusion criteria were pre-pregnancy diabetes or hypertension, thyroid dysfunction (treated or untreated) before and after screening, thyroid screening after 20 weeks of pregnancy and assisted pregnancies. The diagnosis of GDM was based on the 2013 WHO criteria, and that of TAI by increased TPOAb levels (≥60 kIU/L).</p><p><strong>Results: </strong>Overall, 622 women were expecting a FF (51.8%) and 579 a MF (48.2%). Seventy-five women were TAI+ (6.2%). The overall prevalence of GDM was 19.6%, 28% in TAI+ women and 19% in TAI- women (P = 0.008 after adjustment for confounders). In women who were expecting a FF, the prevalence of GDM was 34.4% in TAI+ women vs 19.2% in TAI- women; P = 0.002.</p><p><strong>Conclusions: </strong>The prevalence of GDM was increased in euthyroid TAI+ women, but only in the case of pregnancies with a FF. This is opposite to the result observed in the general population and deserves more research to explore the underlying mechanisms.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11850046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of thyroid ultrasound reports' quality in the Community of Madrid, Spain.","authors":"Pablo Valderrabano, Jhonatan Boris Quiñones Silva, Sandra Campos Mena, Cristina Familiar Casado, María Paz de Miguel Novoa, María Concepción Sanabria Pérez, Elisa Fernández Fernández, Aurelio López Guerra, Marcel Sambo, Patricia Martín Rojas-Marcos, Paola Parra Ramírez, Clara Tasende Fernández, María Jesús Rodríguez Troyano, Victoria Alcázar Lázaro, Marcos Lahera Vargas, Nuria Palacios García","doi":"10.1530/ETJ-24-0390","DOIUrl":"10.1530/ETJ-24-0390","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the current quality of thyroid ultrasound reports in the Community of Madrid.</p><p><strong>Methods: </strong>Consecutive thyroid ultrasound reports from patients evaluated in the endocrine outpatient clinics of eight academic hospitals in the Community of Madrid were assessed for quality during 2021 and 2022. Descriptions of eight different features were evaluated: number and axes of dimensions, composition, echogenicity, margins, shape, calcifications and category of suspicion. Features were considered adequately reported if described for all nodules ≥1 cm. The number of correctly reported features was compared by year of data capture (2021 vs 2022), specialty of the informant (radiologist vs endocrinologist), and origin of the report (in-house vs outsourced center). The quality of reports for assessing the need for cytological evaluation and/or growth during follow-up was evaluated.</p><p><strong>Results: </strong>A total of 1234 reports were included, 63% from 2021; 82% were issued by radiologists and 89% were issued in-house. Composition and echogenicity were the most frequently reported (79% and 72%, respectively). The rest of the features were appropriately described in less than half of the reports. Forty percent of the reports were good to select nodules for biopsy, 23% had sufficient data to assess growth during follow-up, and only 13% met both quality criteria. The overall quality of reports was worse in outsourced centers (median number of described features 2 vs 4, P < 0.001) and better when issued by endocrinologists (median number of described features 6 vs 3, P < 0.001).</p><p><strong>Conclusions: </strong>Most thyroid ultrasound reports issued in the Community of Madrid provide insufficient data to make management decisions regarding thyroid nodules.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":"14 1","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11850041/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of animal models to study aggressive thyroid cancers.","authors":"Shovan Dutta, Jeffrey A Knauf","doi":"10.1530/ETJ-24-0361","DOIUrl":"10.1530/ETJ-24-0361","url":null,"abstract":"<p><p>The development of mouse models for thyroid cancer has significantly advanced over the years, enhancing our understanding of thyroid tumorigenesis, molecular pathways and treatment responses. The earliest mouse models of thyroid cancer relied on hormone, radiation or chemical carcinogenesis to induce tumors. However, as our understanding of the genetic alterations driving thyroid cancer has expanded, more sophisticated genetic engineering techniques have been employed to create models with thyroid-specific expression of these driver mutations. While driver mutations can initiate tumorigenesis, they are often insufficient to sustain cancer progression and invasion, which significantly limits their usefulness in studying advanced thyroid cancers. Recent studies exploring the genomic landscape of advanced thyroid cancer have identified several cooperating mutations, which are secondary genetic alterations that work alongside driver mutations to promote thyroid tumor progression. Indeed, mice with a combination of oncogenic drivers and common cooperating alterations have been developed, demonstrating that these alterations function in conjunction with the oncogenic driver to promote the progression to advanced thyroid cancer. These models provide important preclinical tools to explore how cooperating alterations influence the response to therapies, particularly those targeting the oncogenic driver. This review will focus on recent publications that broaden the scope of advanced thyroid cancer models by combining thyroid-specific oncogenic driver expression with various cooperating mutations.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11825169/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143058017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Newborn screening and the screening laboratory: past, present and future.","authors":"Anita Boelen, Annemieke C Heijboer","doi":"10.1530/ETJ-24-0325","DOIUrl":"10.1530/ETJ-24-0325","url":null,"abstract":"<p><p>Thyroid hormone (TH) is essential for brain development in utero and during the first 2 to 3 years of life. The negative effects of TH deficiency on brain development are irreversible. Early detection of TH deficiency in neonates (congenital hypothyroidism (CH) through newborn screening (NBS)) allows for early treatment, thereby preventing brain damage. Screening for CH began in 1973 with the measurement of total thyroxine (T4) in dried blood spots. The enhanced sensitivity of thyroid-stimulating hormone (TSH) measurement has prompted a shift in the approach to NBS for CH. Currently, worldwide, the majority of NBS programs for CH employ TSH as the primary screening marker. However, a select few programs still utilize T4 as the primary marker, enabling the detection of both primary and central CH. This review provides an overview of the laboratory aspects of the screening on CH from the start of screening to the present.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11825157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143032701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Did selective kinase inhibitors change the management of patients with radioiodine-refractory thyroid cancer?","authors":"Tommaso Porcelli, Cristina Luongo, Anna Cerbone, Carmine Di Luccio, Mariantonia Nacchio, Maria Angela De Stefano, Martin Schlumberger, Domenico Salvatore","doi":"10.1530/ETJ-24-0332","DOIUrl":"10.1530/ETJ-24-0332","url":null,"abstract":"<p><strong>Objective: </strong>To analyse at our institution the criteria for selecting a first-line therapy for patients with advanced radioiodine-refractory thyroid cancer and their clinical responses, safety and survival outcomes.</p><p><strong>Patients and methods: </strong>We extracted data from 69 consecutive patients referred to Federico II University Hospital from September 2016 to September 2024, among whom 44 patients were treated with TKIs as first-line treatment and outside any clinical trial, and form the basis of this report.</p><p><strong>Results: </strong>Thirty-one (71%) patients were treated with the antiangiogenesis inhibitor lenvatinib and 13 (29%) were treated with selective tyrosine kinase inhibitors (s-TKIs). Among the latter, eight patients were treated with dabrafenib + trametinib (DT), two patients were treated with selpercatinib because of contraindications to lenvatinib, and three patients received DT as redifferentiation therapy. A RECIST partial response was observed in 28% of patients treated with lenvatinib, in 63% of those treated with DT and in one of the two patients treated with selpercatinib. Grade ≥3 adverse events occurred in 13 (42%) patients treated with lenvatinib and only in 1 (9%) patient treated with DT. Progression-free survival (PFS) and overall survival rates at 1 year were 72% and 83% in lenvatinib-treated patients and 69% and 83% in DT-treated patients, respectively. In both selpercatinib-treated patients, the PFS at data cut-off was 10 months. No treatment-related deaths were observed.</p><p><strong>Conclusion: </strong>S-TKIs permitted tailoring systemic treatment based on disease location, tumour volume and patient comorbidities, achieving satisfactory tolerance and outcomes in selected patients with an actionable driver mutation and with contraindications to angiogenesis inhibitors or candidates for redifferentiation therapy.</p>","PeriodicalId":12159,"journal":{"name":"European Thyroid Journal","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143022718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}