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.

Effect of thyroid hormone replacement therapy on mortality rate in patients undergoing total or hemithyroidectomy for benign multinodular goitre.

BACKGROUND: Thyroid surgery for benign non-toxic nodular goitre is a common endocrine surgical procedure. It is not known whether thyroid hormone replacement therapy following surgery for benign thyroid disease influences mortality or morbidity rates. METHODS: A retrospective observational study was conducted using national registries in Sweden. Overall mortality and morbidity rates were compared for patients with or without thyroid hormone replacement therapy in patients operated on with hemithyroidectomy or total thyroidectomy for a diagnosis of benign non-toxic nodular goitre. RESULTS: Between 1 July 2006 and 31 December 2017, 5573 patients were included, 1644 (29.5%) patients were operated on with total thyroidectomy and 3929 patients with hemithyroidectomy. In the hemithyroidectomy group, 1369 (34.8%) patients were prescribed thyroid hormone replacement therapy in the follow-up. The patients who underwent hemithyroidectomy and did not use thyroid hormone replacement therapy in the follow-up had a standard mortality ratio of 1.31 (95% confidence interval, 1.09-1.54). The mortality ratio was not increased in patients who underwent total thyroidectomy or hemithyroidectomy and used thyroid hormone replacement therapy. The risk of death analysed by multivariable Cox regression for patients operated on with hemithyroidectomy without later thyroid hormone replacement therapy, adjusted for age and sex, showed an increased hazard ratio of 1.65 (1.19-2.30) compared with hemithyroidectomy with hormone replacement therapy. CONCLUSION: Patients subjected to hemithyroidectomy without later hormone replacement therapy had a 30% higher risk of death compared with the normal Swedish population and a 65% increased risk of death compared with patients undergoing hemithyroidectomy with postoperative hormone replacement therapy.

Prevalence of DICER1 variants in large multinodular goiter: thyroid function, clinical and imaging characteristics.

Objective: Mutations in DICER1 are found in differentiated thyroid carcinoma (DTC) and in multinodular goiter (MNG) at a younger age with other tumors, which characterizes DICER1 syndrome. DICER1 is one driver to DTC; however, it is also found in benign nodules. We speculated that patients with mutations in DICER1 may present long-lasting MNG. Our aim was to investigate the frequency of DICER1 variants in patients with MNG. Subjects and methods: Patients who submitted to total thyroidectomy due to large MNG with symptoms were evaluated. DICER1 hotspots were sequenced from thyroid nodule samples. To confirm somatic mutation, DNA from peripheral blood was also analyzed. Results: Among 715 patients, 154 were evaluated with 56.2 ± 12.3 years old (28-79) and the thyroid volume was 115.7 ± 108 mL (16.2-730). We found 11% with six DICER1 variations in a homo or heterozygous state. Only rs12018992 was a somatic DICER1 variant. All remaining variants were synonymous and likely benign, according to the ClinVar database. The rs12018992 was previously described in an adolescent with DTC, measuring 13 mm. There were no significant differences according to gender, familial history of goiter, age, thyroid volume, TSH and TI-RADS classification between DICER1 carriers. Free T4 were lower in patients with DICER1 polymorphisms (13.77 ± 1.8 vs. 15.44 ± 2.4 pmol/L, p = 0.008), regardless of TSH levels. Conclusion: We conclude that germline DICER1 variants can be found in 11% of large goiters but no second-hit somatic mutation was found. DICER1 is one driver to thyroid lesion and a second-hit event seems unnecessary in the MNG development.

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.

Factors predicting remission in hyperthyroid patients after low-dose I-131 therapy: 20 years retrospective study from a tertiary care hospital.

OBJECTIVE: To assess the therapeutic outcome and factors predicting remission in hyperthyroid patients treated with low-dose I-131 (radioactive iodine) from a tertiary care hospital in South India. METHODS: This 20-year single-institutional retrospective study was carried out on 3891 hyperthyroid adult patients. Only those patients with complete clinical records were audited. Selection criteria were based on patients with scintigraphic diagnosis of either Graves' disease (GD), toxic multinodular goitre (TMNG) or autonomous toxic nodule (ATN) and the records of those who received low-dose I-131 therapy (LDT) between March 2000 and 2020 at Amrita Institute, Cochin were analysed. SPSS 10 software was used for statistical analysis. RESULTS: The records of 3891 hyperthyroid predominantly female patients were analysed. 65% patients had GD, 33% had TMNG and 3% were ATN. High rates of remission as early as 12 weeks (in 61% patients) was observed with a single dose of LDT while on strict iodine-free diet for 3-4 weeks prior to LDT. Study reveals that those with lower free T4 (fT4), small goitre (thyroid volume < 25 cm3), < 15% thyroid trapping function, shorter time duration from onset of hyperthyroidism to LDT, and treatment-naïve patients were factors determining high remission rates. Mann Whitney U test and Chi-square test was used to correlate variables in the remission and relapse groups. We found a positive correlation between fT4, thyroid volume (r = 0.35, p < 0.01) and trapping function (r = 0.34, p < 0.01), which were independent of age, sex, body mass index and TSH levels in our study. CONCLUSION: High therapeutic outcome was observed with a single dose of LDT while on iodine-free diet. Remission with single dose of LDT occurred in 90% patients by 5th month. Of them 56% patients were treatment naive prior to LDT. LDT is thus a safe and effective therapy in hyperthyroid patients and can be recommended as a primary modality of management.

Risk of papillary thyroid carcinoma and nodular goiter associated with exposure to semi-volatile organic compounds: A multi-pollutant assessment based on machine learning algorithms.

BACKGROUND: Exposure to semi-volatile organic compounds (SVOCs) may link to thyroid nodule risk, but studies of mixed-SVOCs exposure effects are lacking. Traditional analytical methods are inadequate for dealing with mixed exposures, while machine learning (ML) seems to be a good way to fill the gaps in the field of environmental epidemiology research. OBJECTIVES: Different ML algorithms were used to explore the relationship between mixed-SVOCs exposure and thyroid nodule. METHODS: A 1:1:1 age- and gender-matched case-control study was conducted in which 96 serum SVOCs were measured in 50 papillary thyroid carcinoma (PTC), 50 nodular goiters (NG), and 50 controls. Different ML techniques such as Random Forest, AdaBoost were selected based on their predictive power, and variables were selected based on their weights in the models. Weighted quantile sum (WQS) regression and Bayesian kernel machine regression (BKMR) were used to assess the mixed effects of the SVOCs exposure on thyroid nodule. RESULTS: Forty-three of 96 SVOCs with detection rate >80 % were included in the analysis. ML algorithms showed a consistent selection of SVOCs associated with thyroid nodule. Fluazifop-butyl and fenpropathrin are positively associated with PTC and NG in single compound models (all P < 0.05). WQS model shows that exposure to mixed-SVOCs was associated with an increased risk of PTC and NG, with the mixture dominated by fenpropathrin, followed by fluazifop-butyl and propham. In the BKMR model, mixtures showed a significant positive association with thyroid nodule risk at high exposure levels, and fluazifop-butyl showed positive effects associated with PTC and NG. CONCLUSION: This study confirms the feasibility of ML methods for variable selection in high-dimensional complex data and showed that mixed exposure to SVOCs was associated with increased risk of PTC and NG. The observed association was primarily driven by fluazifop-butyl and fenpropathrin. The findings warranted further investigation.

Hyperthyroidism.

Thyrotoxicosis causes a variety of symptoms and adverse health outcomes. Hyperthyroidism refers to increased thyroid hormone synthesis and secretion, most commonly from Graves' disease or toxic nodular goitre, whereas thyroiditis (typically autoimmune, viral, or drug induced) causes thyrotoxicosis without hyperthyroidism. The diagnosis is based on suppressed serum concentrations of thyroid-stimulating hormone (TSH), accompanied by free thyroxine and total or free tri-iodothyronine concentrations, which are raised (overt hyperthyroidism) or within range (subclinical hyperthyroidism). The underlying cause is determined by clinical assessment, detection of TSH-receptor antibodies and, if necessary, radionuclide thyroid scintigraphy. Treatment options for hyperthyroidism include antithyroid drugs, radioactive iodine, and thyroidectomy, whereas thyroiditis is managed symptomatically or with glucocorticoid therapy. In Graves' disease, first-line treatment is a 12-18-month course of antithyroid drugs, whereas for goitre, radioactive iodine or surgery are preferred for toxic nodules or goitres. Evidence also supports long-term treatment with antithyroid drugs as an option for patients with Graves' disease and toxic nodular goitre.

Retrospective Diagnosis of Ca Thyroid on Thyroid Pertechnetate Scan -A part of Routine Post Thyroidectomy Work up For Nontoxic Multi Nodular Goiter.

Unsuspected thyroid cancer can be detected in multinodular goiter (MNG) where the risk of malignancy is 7-9%. Fine needle aspiration (FNAc) is performed in case of suspicious findings on ultrasound. With benign FNAC results there is no need for surgery unless the patient has pressure symptoms or cosmetic concerns, but the risk of overlooked malignancy is always present. We present the case of a patient with unexpected detection of papillary thyroid cancer on thyroid scan.

Bocio endotorácico / Endothoracic Goiter

Introducción: Un bocio se considera intratorácico cuando más de un 50 por ciento de la glándula tiroides está en el mediastino, o sea, por debajo del nivel del estrecho torácico superior. Se trata de una enfermedad poco frecuente que padece aproximadamente el 3 por ciento de los pobladores del mundo. La incidencia del bocio nodular ha disminuido debido a la ingestión en algunos países de sal yodada y alimentos ricos en yodo. Esta enfermedad alcanza alrededor del 10 por ciento de las masas mediastínicas. Objetivo: Presentar el caso de un paciente masculino, operado de bocio endotorácico en la provincia de Cienfuegos. Presentación de caso: Se presenta un paciente masculino, de 48 años de edad, que acude a consulta y refiere aumento de volumen del cuello en la región anterior, que se acompaña de decaimiento y en ocasiones disfagia tanto a los alimentos líquidos como a los sólidos. Además, refiere ligera disnea que tolera adecuadamente cuando realiza las actividades de la vida diaria. Por tratarse de una enfermedad poco frecuente, se considera de interés científico publicar el caso para conocimiento de los profesionales dedicados al estudio y tratamiento de las afecciones tiroideas. Conclusiones: El bocio endotorácico es una entidad poco frecuente y en todos los casos requiere de intervención quirúrgica(AU)

Introduction: A goiter is considered intrathoracic when more than 50 percent of the thyroid gland is in the mediastinum; in other words, below the level of the superior thoracic outlet. It is a rare disease that affects approximately 3 percent of the world's population. The incidence of nodular goiter has decreased due to the ingestion of iodized salt and iodine-rich foods in some countries. This disease accounts for about 10 percent of mediastinal masses. Objective: To present the case of a male patient operated on for endothoracic goiter in the province of Cienfuegos. Case presentation: The case is presented of a 48-year-old male patient who comes for consultation referring a volume increase in the anterior neck region, accompanied by decay and sometimes dysphagia to both liquid and solid food. In addition, he reports slight dyspnea that he tolerates adequately when performing daily living activities. Since this is a rare disease, it is considered of scientific interest to publish the case for the knowledge of professionals dedicated to studying and treating thyroid disorders. Conclusions: Endothoracic goiter is a rare entity and, in all cases, requires surgical intervention(AU)

Thyroid Volume in Pregnancy is Associated with Parity, Gestational Age, and Body Mass Index in an Iodine-sufficient Area.

OBJECTIVE: We compared thyroid volume (TV) and presence of nodular goiter (NG) in pregnant vs. non-pregnant women in an iodine-sufficient area. We also evaluated the relationship between gestational age, parity, and TV in the pregnant women group, and determined the 2.5th and 97.5th percentiles of normal TV in pregnancy. METHODS: This cross-sectional study included 299 healthy women (216 pregnant) without previous thyroid diseases. Thyroid ultrasounds were performed and compared between pregnant and non-pregnant women. The range of normal distribution of TV (2.5th and 97.5th percentiles) in pregnancy was determined after excluding individuals with positive thyroid antibodies, NG, and/or abnormal serum thyrotropin (TSH) or free thyroxine (FT4). RESULTS: Thyroid volume was larger among pregnant compared to non-pregnant women (8.6 vs 6.1 cm3; p < 0.001) and was positively correlated with gestational age (rs = 0.221; p = 0.001), body mass index (BMI, rs 0.165; p = 0.002), and FT4 levels (rs 0.118 p = 0.021). Nodular goiter frequency did not differ between the two groups. There was a negative correlation between TV and TSH (rs -0.13; p = 0.014). Thyroid volume was lower among primiparous compared to multiparous patients (7.8 vs 8.9; p < 0.001) and was positively correlated with parity (rs 0.161; p = 0.016). The 2.5th and 97.5th percentiles of TV were 4.23 and 16.47 cm3, respectively. CONCLUSION: Thyroid volume was higher in pregnant compared to non-pregnant women and was positively related to parity, BMI, and gestational age in a normal iodine status population. Pregnancy did not interfere with the development of NG.

OBJETIVO: Comparamos o volume tireoidiano (VT) e a presença de bócio nodular (BN) em mulheres grávidas e não grávidas em uma área suficiente em iodo. Também avaliamos a relação entre idade gestacional, paridade e VT no grupo de gestantes e determinamos os percentis 2,5 e 97,5 de VT normal na gestação. MéTODOS: Este estudo transversal incluiu 299 mulheres saudáveis (216 grávidas) sem doenças tireoidianas prévias. Ultrassonografias de tireoide foram realizadas e comparadas entre mulheres grávidas e não grávidas. A faixa de distribuição normal de VT (percentis 2,5 e 97,5) na gestação foi determinada após a exclusão de indivíduos com anticorpos tireoidianos positivos, BN e/ou tireotropina sérica (TSH) ou tiroxina livre (T4L) anormais. RESULTADOS: O VT foi maior entre as gestantes em comparação com as mulheres não grávidas (8,6 vs 6,1 cm3; p < 0,001) e foi positivamente correlacionado com a idade gestacional (rs = 0,221; p = 0,001), índice de massa corporal (IMC, rs 0,165; p = 0,002) e níveis de T4L (rs 0,118 p = 0,021). A frequência de BN não diferiu entre os dois grupos. Houve correlação negativa entre VT e TSH (rs -0,13; p = 0,014). O VT foi menor entre as primíparas em comparação com as multíparas (7,8 vs 8,9; p < 0,001) e foi positivamente correlacionado com a paridade (rs 0,161; p = 0,016). Os percentis 2,5 e 97,5 de VT foram 4,23 e 16,47 cm3, respectivamente. CONCLUSãO: O VT foi maior em gestantes em comparação com mulheres não grávidas e foi positivamente relacionado à paridade, IMC e idade gestacional em uma população com status iódico normal. A gravidez não interferiu no desenvolvimento de BN.

Manejo del paciente con Hipertiroidismo en consulta externa de la Unidad Técnica de Endocrinología del Hospital Carlos Andrade Marín / Management of the patient with hyperthyroidism in the outpatient clinic of the Technical Unit of Endocrinology of the Endocrinology Technical Unit of the Carlos Andrade Marín Hospital

El hipertiroidismo es un trastorno caracterizado por el exceso de hormonas tiroideas. El déficit de yodo es un factor clave en dicha patología y en lugares con suficiencia del mismo se asocian a au-toinmunidad tiroidea. La prevalencia de hipertiroidismo mani-fiesto varía del 0,2% al 1,3% en áreas con suficiencia de yodo, sin embargo, esto puede variar en cada país por diferencias en umbrales de diagnóstico, sensibilidad de ensayo y población se-leccionada. Un reporte de The Third National Health and Nutri-tion Examination Survey (NHANES III) mostró que el hiperti-roidismo manifiesto se presenta en 0,7% de la población general e hipertiroidismo subclínico en el 1,7%1,2.En incidencia, la patología se asocia con la suplementación de yodo, con la mayor frecuencia en áreas de deficiencias, por au-mento de nódulos tiroideos en la población anciana, teniendo a regiones de áreas montañosas como América del Sur, África Central y suroeste de Asia dentro de este grupo. Un meta aná-lisis de estudios europeos mostró una incidencia general de 50 casos por 100000 personas/años1. En Ecuador, según los datos del Instituto Nacional de Estadísticas y Censos (INEC) del 2017, se reportaron 157 casos de hipertiroidismo, de los cuales la En-fermedad de Graves (EG) fue la causa más común, seguida por el bocio multinodular tóxico (BMNT) y finalmente el adenoma tóxico (AT) con una incidencia de 61 %, 24 % y 14 % respecti-vamente3.Los pacientes con esta patología tienen aumento de riesgo com-plicaciones cardiovasculares y mortalidad por todas las causas, siendo falla cardíaca uno de sus principales desenlaces, así el diagnóstico precoz evita estos eventos, principalmente en pobla-ción de edad avanzada.El presente protocolo se ha realizado para un correcto trata-miento de esta patología en el Hospital de Especialidades Carlos Andrade Marín (HECAM).

Hyperthyroidism is a disorder characterized by an excess of thyroid hormones. Iodine deficiency is a key factor in this pa-thology and in places with iodine deficiency it is associated with thyroid autoimmunity. The prevalence of overt hyperthyroidism varies from 0,2% to 1,3% in iodine-sufficient areas; however, this may vary from country to country due to differences in diag-nostic thresholds, assay sensitivity, and selected population. A report from The Third National Health and Nutrition Examina-tion Survey (NHANES III) showed that overt hyperthyroidism occurs in 0,7% of the general population and subclinical hyper-thyroidism in 1,7%1,2.In incidence, the pathology is associated with iodine supplemen-tation, with the highest frequency in areas of deficiencies, due to increased thyroid nodules in the elderly population, having regions of mountainous areas such as South America, Central Africa and Southwest Asia within this group. A meta-analysis of European studies showed an overall incidence of 50 cases per 100000 person/years1. In Ecuador, according to data from the National Institute of Statistics and Census (INEC) in 2017, 157 cases of hyperthyroidism were reported, of which, Graves' di-sease (GD) was the most common cause, followed by toxic mul-tinodular goiter (BMNT) and finally toxic adenoma (TA) with an incidence of 61 %, 24 % and 14 % respectively3.Patients with this pathology have an increased risk of cardiovas-cular complications and all-cause mortality, with heart failure being one of the main outcomes, so early diagnosis avoids these events, mainly in the elderly population.The present protocol has been carried out for the correct treat-ment of this pathology at the Carlos Andrade Marín Specialties Hospital (HECAM).

Diagnostic Value and Challenges of BRAF V600E Molecular Testing and Thyroid Fine-Needle Aspiration Cytology: A Retrospective Study from a Tertiary Institution in Southern Hunan Province, China.

INTRODUCTION: Combined thyroid fine-needle aspiration (FNA) cytology and valine-to-glutamate substitution at codon 600 of B-Raf proto-oncogene, serine/threonine kinase (BRAF V600E) mutation detection are procedures used for diagnosing thyroid nodules in many Chinese tertiary institutions. This retrospective study at our institution aimed to explore the effectiveness and challenges of the combined approach in diagnosing thyroid nodules and the correlation between BRAF V600E mutation status and behavior of papillary thyroid carcinoma. METHODS: Thyroid FNA cytology and BRAF V600E mutation detection results were reviewed between November 2020 and July 2022. A total of 623 patients, each of whom underwent thyroidectomy and final pathological examination after FNA cytology diagnosis, were included in the study. The relationship between the BRAF V600E mutational status and pathological parameters was analyzed using the χ2 test. The effectiveness and challenges of FNA cytology alone and the combined procedure were also evaluated based on the final pathology. RESULTS: Of 623 patients, 591 were diagnosed with papillary thyroid carcinoma (PTC), of which 456 were positive for the BRAF V600E mutation. It demonstrated near-perfect specificity for identifying PTC, and its incidence rate showed an age-specific curve with an inverted U-shaped distribution. The final pathological examination showed that the combined procedure had a higher sensitivity (83.91%) than FNA cytology alone (63.45%) for distinguishing PTC from other lesions (p < 0.001). Mutational status was associated with a larger maximum tumor diameter (p = 0.003) and a tendency of capsular invasion (p = 0.0542) but possibly unrelated to central lymph node metastasis (p = 0.1846). Nodular goiters accounted for most benign entities initially designated as Bethesda categories III-V. CONCLUSION: BRAF V600E mutational analysis complements cytopathology and improves the PTC detection rate in FNA cytology samples due to the high prevalence of the mutation in China. BRAF V600E mutation does not show a statistical correlation with tumor aggressiveness. Morphological pitfalls such as histocyte aggregation, cystic-lining cells in nodular goiters, and oncocytes in Hashimoto's thyroiditis, were overwhelmingly found in BRAF V600E-negative specimens.

Analysis of clinical characteristics of thyroid phenotype in Pendred syndrome based on multiple databases.

OBJECTIVE: This study aimed to provide statistical data support for the development of thyroid phenotype-related follow-up and reference for follow-up duration and project selection by analyzing the clinical characteristics of thyroid phenotype in Pendred syndrome (PDS) based on multiple databases. MATERIALS AND METHODS: PDS-related pathogenic or possibly/pathogenic mutations were searched by Deafness Variation Database (DVD), ClinVar, and PubMed databases, the mutation sites were counted and the characteristics and thyroid phenotypes were analyzed. RESULTS: The median age of hearing phenotype onset in PDS cases reported in multiple databases was 1.0 (1.0, 2.0) years, the median age of thyroid phenotype onset was 14.5 (5.8, 21.0) years, and the median age that thyroid phenotype was more delayed than hearing phenotype was 10.0 (4.0, 17.0) years. There were significant differences in the distribution of onset time between the two phenotypes (Z=-4.560, p<0.01). In these patients, the positive rates of goiter, thyroid nodules, abnormal thyroid function, and perchlorate discharge test (PDT) were 78%, 78%, 69%, and 78%, respectively. Moreover, the number of thyroid phenotype-positive items in the genotype group with frameshift mutation was not significantly higher than that in the group without frameshift mutation (Z=-1.452, p=0.147). CONCLUSIONS: The early missed diagnosis of PDS may be due to the late onset of thyroid phenotype and the non-100% positive rate of examination items. Therefore, multi-item follow-up of the thyroid gland into adulthood will benefit patients. At present, the relationship between genotype and phenotype is still unclear, and prognosis cannot be determined according to genotype.

Ambulatory thyroidectomy. Recommendations of the Association francophone de chirurgie endocrinienne (AFCE), with the Société française d'endocrinologie (SFE) and the Société française de médecine nucléaire (SFMN).

Before ambulatory thyroidectomy is proposed, the patient and his family and/or friends will need to be informed by the surgeon of the specificity of this procedure, the normal postoperative effects of a thyroidectomy, and potential complications. Also known as outpatient thyroid surgery, it can only be proposed by an experienced surgeon supported by an adequately trained medical and paramedical team. The healthcare establishment must be in possession of all the resources needed in ambulatory management, with continuity of care guaranteed 24h/24 7d/7 in the event of possible emergency rehospitalization. In all cases, contact the day after the operation between the healthcare facility and the patient is imperative. Ambulatory management can be proposed for lobo-isthmectomy or isthmectomy, possibly involving lymph node dissection. It is also possible for secondary totalization of thyroidectomy (following lobectomy). On the other hand, indications for single-stage total thyroidectomy must be limited and ensure proximity between the patient's home and a healthcare structure with a platform adapted to the pathology necessitating surgical intervention (non-plunging euthyroid goiter). A precise clinical pathway must be set out, including pre-, peri- and postoperative protocols having been formalized for surgery (hemostasis procedures) and for anesthesia (prevention of pain, of vomiting and of hypertension). We recommend at least 6hours of postoperative surveillance in outpatient care. When outpatient treatment is not possible or not recommended, hospitalization stay after thyroidectomy can be limited to 24hours, except in the event of postoperative complications, or a need for effectively dosed anticoagulant treatment.

Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.

Pendrin (SLC26A4) is an anion exchanger expressed in the apical membranes of selected epithelia. Pendrin ablation causes Pendred syndrome, a genetic disorder associated with sensorineural hearing loss, hypothyroid goiter, and reduced blood pressure. However its molecular structure has remained unknown, limiting our understanding of the structural basis of transport. Here, we determine the cryo-electron microscopy structures of mouse pendrin with symmetric and asymmetric homodimer conformations. The asymmetric homodimer consists of one inward-facing protomer and the other outward-facing protomer, representing coincident uptake and secretion- a unique state of pendrin as an electroneutral exchanger. The multiple conformations presented here provide an inverted alternate-access mechanism for anion exchange. The structural and functional data presented here disclose the properties of an anion exchange cleft and help understand the importance of disease-associated variants, which will shed light on the pendrin exchange mechanism.

Total vs less than total thyroidectomy for benign multinodular non-toxic goiter: an updated systematic review and meta-analysis.

BACKGROUND: We have performed an updated meta-analysis of randomized controlled trials (RCT) comparing total thyroidectomy (TT) with less than total thyroidectomy (LTT) for benign multinodular non-toxic goiter (BMNG). OBJECTIVES: The objective was to evaluate the effects and outcomes of TT as compared to LTT. METHODS: Eligibility criteria: RCTs comparing TT vs LTT. INFORMATION SOURCES: PubMed, Embase, Cochrane Library and online registers were searched for articles comparing TT with LTT. Risk of bias: Articles were assessed for risk of bias using the Cochrane's revised tool to assess risk of bias in randomized trials (RoB 2 tool). SYNTHESIS OF RESULTS: The main summary measures were risk difference using a random effects model. RESULTS: Five randomized controlled trials were included in the meta-analysis. Recurrence rate was lower for TT compared to LTT. Adverse events like temporary or permanent recurrent laryngeal nerve (RLN) palsy and permanent hypoparathyroidism were similar in both groups except for the rate of temporary hypoparathyroidism which was lower in the LTT group. DISCUSSION: All studies had unclear risk of bias for blinding of the participants and personnel and high risk of bias for certain selective reporting. This meta-analysis did not show any clear benefit or harm of either procedure (TT vs LTT) for goiter recurrence and re-operation rates (for both recurrence and incidental thyroid cancer). However, re-operation for goiter recurrence was significantly higher in the LTT group based on a single RCT. Evidence suggests increased rates of temporary hypoparathyroidism with TT but there was no difference in the rate of RLN palsy and permanent hypoparathyroidism between the two methods. The overall quality of evidence was low to moderate.