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Turkish Journal of Surgery 2018Missed gland is an extremely rare condition. It is a mediastinal thyroid mass found after total thyroidectomy. We report a case of missed gland. The patient underwent...
Missed gland is an extremely rare condition. It is a mediastinal thyroid mass found after total thyroidectomy. We report a case of missed gland. The patient underwent total thyroidectomy due to multinodular goiter and thyroid stimulating hormone levels did not increase after surgery. Pathological tests revealed a micropapillary carcinoma. Thyroid ultrasonography and scintigraphy scan revealed mediastinal thyroid mass. The patient underwent redo surgery without sternotomy and there was no morbidity after the second surgical procedure. Most missed thyroid gland cases are due to incomplete removal of plunging thyroid goiter during total thyroidectomy. They also can be attributed to a concomitant, unrecognized mediastinal goiter, which is not connected to the thyroid gland with vessels or a thin fibrous band. It should be noted that absence of signs like mediastinal mass or tracheal deviation in preoperative chest X-ray does not exclude substernal goiter. The presence of a missed thyroid gland should be kept in mind when postoperative thyroid stimulating hormone levels remain unchanged.
PubMed: 30023979
DOI: 10.5152/turkjsurg.2017.3206 -
Acta Otorhinolaryngologica Italica :... Feb 2024Partial or total sternotomy is required for 10% of retrosternal goiter. This study reviewed our experience with an extended cervicotomic approach as an alternative...
OBJECTIVE
Partial or total sternotomy is required for 10% of retrosternal goiter. This study reviewed our experience with an extended cervicotomic approach as an alternative surgical solution for retrosternal goiter.
METHODS
A retrospective study was performed on patients who underwent partial or total thyroidectomy for retrosternal goiter between 2014 and 2019 at a tertiary medical centre. Data on clinical, radiologic, and pathologic factors were analysed. Peri- and postoperative outcomes were compared between extended and standard cervical approaches to predict the need for an extended cervical approach.
RESULTS
The cohort included 265 patients, of whom 245 (92.4%) were treated by standard thyroidectomy. In 17 (6.4%), the standard approach proved insufficient, and the horizontal incision was extended to a T-shape to improve access. The remaining 3 patients required a sternotomy. Use of the extended cervical approach was significantly associated with clinical features such as male gender, diabetes, high body mass index and postoperative hypocalcaemia.
CONCLUSIONS
The extended cervicotomic approach is an alternative surgical solution for retrosternal goiter, with no increased risk of significant post-operative complications.
Topics: Humans; Male; Retrospective Studies; Goiter, Substernal; Goiter; Thyroidectomy; Sternotomy; Postoperative Complications
PubMed: 38420718
DOI: 10.14639/0392-100X-N2746 -
European Journal of Nuclear Medicine... Oct 2023Treatment of hyperthyroidism caused by autonomously functioning thyroid nodules (AFTN) with I often leads to undesirable hypothyroidism. Radiofrequency ablation (RFA)...
Radiofrequency ablation for autonomously functioning nodules as treatment for hyperthyroidism: subgroup analysis of toxic adenoma and multinodular goitre and predictors for treatment success.
PURPOSE
Treatment of hyperthyroidism caused by autonomously functioning thyroid nodules (AFTN) with I often leads to undesirable hypothyroidism. Radiofrequency ablation (RFA) has emerged as a promising alternative. This retrospective analysis aimed to examine the efficacy of, and postprocedural hypothyroidism after, RFA for AFTN.
METHODS
Patients with hyperthyroidism caused by AFTN and treated with RFA were included if follow-up of at least 1 year was available. Cure was defined as thyroid medication-free biochemical euthyroidism. To predict cure, patient and treatment factors were analysed. A distinction was made between solitary toxic adenoma (STA) and toxic multinodular goitre (TMG).
RESULTS
Forty-eight patients (36 STA, 12 TMG) were included. One year post-RFA cure rate was 72% in STA versus 25% in TMG (p = 0.004). One patient developed hypothyroidism. In 11 patients that remained hyperthyroid, a second RFA was successful in 83% of STA and 40% of TMG patients. At last available follow-up, this amounted to a total cure rate of 81% in STA and 33% in TMG (p = 0.002). In STA, cured patients had a higher baseline TSH and a lower FT3 than non-cured patients (p = 0.026 and 0.031). Cure was observed in 91% of patients when > 2.1 kJ/mL was delivered during RFA, compared to 44% when less energy was administered.
CONCLUSION
The efficacy of RFA was nearly 3 times higher in STA patients compared to TMG. Severity of hyperthyroidism and kJ/mL delivered during RFA predicts cure. Direct comparison to the current standard of care is needed to implement RFA in treatment of hyperthyroidism caused by AFTN.
PubMed: 37466647
DOI: 10.1007/s00259-023-06319-9 -
Endocrinology, Diabetes & Metabolism... Jun 2022Mass effect from a goiter is a serious complication with potentially life-threatening consequences. In rare instances, a goiter can compress nearby vessels, compromising...
SUMMARY
Mass effect from a goiter is a serious complication with potentially life-threatening consequences. In rare instances, a goiter can compress nearby vessels, compromising cerebral blood flow, which can lead to an ischemic stroke. Ischemic strokes generally occur due to atherogenic or embolic phenomenon, albeit a rare etiology can be due to a mechanical obstruction of great vessels of the neck that provide blood supply to the brain. An unusual example of a similar obstruction is the mass effect of an expansive goiter on the carotid artery (CA) in the neck. We present a rare case of a 90-year-old female who had a historically untreated goiter for 13 years. She presented with symptoms of acute stroke, including right-sided weakness and dysarthria. CT angiogram of the neck revealed a massively enlarged thyroid gland causing compression and intermittent obstruction of the blood flow in the left common CA. Subsequently, the patient underwent a total thyroidectomy. Postoperatively, she had a remarkable recovery of her symptoms of right-sided weakness and dysarthria. Acknowledging stroke as a grave mechanical complication of a large multinodular goiter is crucial for timely and appropriate management to avoid serious consequences.
LEARNING POINTS
The natural history of euthyroid multinodular goiters include abnormal enlargement of the thyroid gland, which results in local compression of structures in the neck causing neurovascular injury. Timely diagnosis and surgical management of an enlarging goiter compressing the CA can reduce morbidity from an ischemic stroke. Ischemic stroke is a rare and dangerous complication of a giant multinodular goiter.
PubMed: 36103594
DOI: 10.1530/EDM-22-0247 -
Acta Endocrinologica (Bucharest,... 2022
PubMed: 36699173
DOI: 10.4183/aeb.2022.397 -
The Journal of Clinical Endocrinology... May 2017The risk of thyroid cancer and multinodular goiter (MNG) in DICER1 syndrome, a rare tumor-predisposition disorder, is unknown.
CONTEXT
The risk of thyroid cancer and multinodular goiter (MNG) in DICER1 syndrome, a rare tumor-predisposition disorder, is unknown.
OBJECTIVE
To quantify the risk of thyroid cancer and MNG in individuals with DICER1 syndrome.
DESIGN
Family-based cohort study.
SETTING
National Institutes of Health (NIH) Clinical Center (CC).
PARTICIPANTS
The National Cancer Institute DICER1 syndrome cohort included 145 individuals with a DICER1 germline mutation and 135 family controls from 48 families.
INTERVENTIONS
Each individual completed a detailed medical history questionnaire. A subset underwent a 3-day evaluation at the NIH CC.
MAIN OUTCOME MEASURES
The cumulative incidence of MNG (or thyroidectomy) was quantified using the complement of the Kaplan-Meier product limit estimator. We compared the observed number of thyroid cancers in the NCI DICER1 cohort with matched data from the Surveillance, Epidemiology, and End Results (SEER) Program. We performed germline and somatic (thyroid cancer, MNG) DICER1 sequencing.
RESULTS
By the age of 40 years, the cumulative incidence of MNG or thyroidectomy was 75% in women and 17% in men with DICER1 syndrome compared with 8% of control women (P < 0.001) and 0% of control men (P = 0.0096). During 3937 person-years of observation, individuals with DICER1 syndrome had a 16-fold increased risk of thyroid cancer (95% confidence interval, 4.3 to 41; P < 0.05) compared with the SEER rates. Of 19 MNG nodules and 3 thyroid cancers, 16 (84%) and 3 (100%), respectively, harbored germline and somatic pathogenic DICER1 mutations.
CONCLUSIONS
We propose a model of thyroid carcinogenesis in DICER1 syndrome. Early-onset, familial, or male MNG should prompt consideration of the presence of DICER1 syndrome.
Topics: Adenocarcinoma, Follicular; Adolescent; Adult; Carcinoma; Carcinoma, Papillary; Case-Control Studies; Cohort Studies; DEAD-box RNA Helicases; Family; Female; Germ-Line Mutation; Goiter, Nodular; Humans; Incidence; Male; Neoplastic Syndromes, Hereditary; Prevalence; Ribonuclease III; Risk; Sequence Analysis, DNA; Thyroid Cancer, Papillary; Thyroid Neoplasms; Thyroidectomy; Ultrasonography; Young Adult
PubMed: 28323992
DOI: 10.1210/jc.2016-2954 -
The Journal of Clinical Investigation Mar 2020BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset... (Clinical Trial)
Clinical Trial
BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the disease. Genome-wide analyses were performed on 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumors, including MNG, schwannomas, papillary thyroid cancers (PTCs), and Wilms tumors. miRNA profiles of 4 tissue types were compared, and sequencing of miRNA, pre-miRNA, and mRNA was performed in a subset of 9 schwannomas, 4 of which harbor DGCR8-E518K.RESULTSWe identified c.1552G>A;p.E518K in DGCR8, a microprocessor component located in 22q, in the kindred. The variant identified is a somatic hotspot in Wilms tumors and has been identified in 2 PTCs. Copy number loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in all 13 samples harboring c.1552G>A;p.E518K. miRNA profiling of PTCs, MNG, schwannomas, and Wilms tumors revealed a common profile among E518K hemizygous tumors. In vitro cleavage demonstrated improper processing of pre-miRNA by DGCR8-E518K. MicroRNA and RNA profiling show that this variant disrupts precursor microRNA production, impacting populations of canonical microRNAs and mirtrons.CONCLUSIONWe identified DGCR8 as the cause of an unreported autosomal dominant mendelian tumor susceptibility syndrome: familial multinodular goiter with schwannomatosis.FUNDINGCanadian Institutes of Health Research, Compute Canada, Alex's Lemonade Stand Foundation, the Mia Neri Foundation for Childhood Cancer, Cassa di Sovvenzioni e Risparmio fra il Personale della Banca d'Italia, and the KinderKrebsInitiative Buchholz/Holm-Seppensen.
Topics: Amino Acid Substitution; Child; Chromosomes, Human, Pair 22; Female; Gene Dosage; Genetic Predisposition to Disease; Genome-Wide Association Study; Goiter, Nodular; HEK293 Cells; Humans; Male; Mutation, Missense; Neoplasm Proteins; Neurilemmoma; Neurofibromatoses; RNA-Binding Proteins; Skin Neoplasms; Exome Sequencing
PubMed: 31805011
DOI: 10.1172/JCI130206 -
Clinical Case Reports Dec 2023Prompt coordinated care enables vaginal delivery for severe goiter-induced airway compression in late pregnancy when expectant management is precluded.
KEY CLINICAL MESSAGE
Prompt coordinated care enables vaginal delivery for severe goiter-induced airway compression in late pregnancy when expectant management is precluded.
ABSTRACT
Long-standing neglected multinodular goiter rarely causes life-threatening airway compression in late pregnancy. Most cases report cesarean delivery to relieve respiratory distress. Vaginal birth may also be possible, but the evidence is limited. A 30-year-old woman with a 7-year goiter history developed severe dyspnea at 34 weeks gestation. Despite the risks, labor was induced by urgent decompression. She vaginally delivered a premature but healthy infant. Her breathing improved after delivery. She later underwent an uncomplicated thyroidectomy. With careful selection and monitoring, vaginal delivery can be considered for goiter-induced respiratory compromise when expectant management is precluded. This case demonstrates successful urgent decompression and favorable maternal-fetal outcomes are possible with a coordinated approach despite the high-risk scenario.
PubMed: 38084351
DOI: 10.1002/ccr3.8303 -
Cells Mar 2022Congenital hypothyroidism is a genetic condition in which the thyroid gland fails to produce sufficient thyroid hormone (TH), resulting in metabolic dysfunction and...
Congenital hypothyroidism is a genetic condition in which the thyroid gland fails to produce sufficient thyroid hormone (TH), resulting in metabolic dysfunction and growth retardation. Xb130 mice exhibit perturbations of thyrocyte cytoskeleton and polarity, and develop postnatal transient growth retardation due to congenital hypothyroidism, leading ultimately to multinodular goiter. To determine the underlying mechanisms, we performed transcriptomic analyses on thyroid glands of mice at three age points: week 2 (W2, before visible growth retardation), W4 (at the nadir of growth); and W12 (immediately before full growth recovery). Using gene set enrichment analysis, we compared a defined set of thyroidal genes between Xb130 and Xb130 mice to identify differentially enriched gene clusters. At the earliest postnatal stage (W2), the thyroid glands of Xb130 mice exhibited significantly downregulated gene clusters related to cellular metabolism, which continued to W4. Additionally, mutant thyroids at W4 and W12 showed upregulated gene clusters related to extracellular matrix, angiogenesis, and cell proliferation. At W12, despite nearly normal levels of serum TH and TSH and body size, a significantly large number of gene clusters related to inflammatory response were upregulated. Early postnatal TH deficiency may suppress cellular metabolism within the thyroid gland itself. Upregulation of genes related to extracellular matrix and angiogenesis may promote subsequent thyroid growth. Chronic inflammatory responses may contribute to the pathogenesis of multinodular goiter in later life. Some of the pathoadaptive responses of Xb130 mice may overlap with those from other mutations causing congenital hypothyroidism.
Topics: Animals; Congenital Hypothyroidism; Goiter; Growth Disorders; Mice; Mice, Knockout; Thyroid Hormones; Transcriptome
PubMed: 35326426
DOI: 10.3390/cells11060975 -
Problemy Endokrinologii Oct 2023DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a... (Review)
Review
DICER1 syndrome is a rare genetic disorder with the progressive development of malignant and non-malignant diseases in childhood. The cause of this syndrome is a dusfunction of the endoribonuclease DICER, which plays an important role in the processing of microRNAs with subsequent regulation of the control of the expression of oncogenes and tumor suppressor genes. Clinical manifestations of dyseropathies is very different and may include both endocrine manifestations - multinodular goiter, differentiated thyroid cancers, ovarian stromal tumors, pituitary blastoma, and non-endocrine formations - pleuropulmonary blastoma, cystic nephroma, pineoblastoma. The presence of somatic mutations of the DICER1 gene is a resultant stage in the pathogenesis of dyseropathies, determining the further path of oncogenesis. At present, DICER1 syndrome is diagnosed extremely rarely, which leads to late detection of the components of the disease in the patient, late diagnosis of neoplasms, lack of family counseling. Diagnosis at the early stages of the disease, the development of screening programs for the management of these patients allows minimizing the risks of developing more malignant, aggressive forms of the disease.
Topics: Humans; Ribonuclease III; DEAD-box RNA Helicases; Mutation; Female; Thyroid Neoplasms; Goiter, Nodular; Pulmonary Blastoma
PubMed: 38796764
DOI: 10.14341/probl13383