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Nature Genetics May 2024Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland...
Insufficient thyroid hormone production in newborns is referred to as congenital hypothyroidism. Multinodular goiter (MNG), characterized by an enlarged thyroid gland with multiple nodules, is usually seen in adults and is recognized as a separate disorder from congenital hypothyroidism. Here we performed a linkage analysis of a family with both nongoitrous congenital hypothyroidism and MNG and identified a signal at 15q26.1. Follow-up analyses with whole-genome sequencing and genetic screening in congenital hypothyroidism and MNG cohorts showed that changes in a noncoding TTTG microsatellite on 15q26.1 were frequently observed in congenital hypothyroidism (137 in 989) and MNG (3 in 33) compared with controls (3 in 38,722). Characterization of the noncoding variants with epigenomic data and in vitro experiments suggested that the microsatellite is located in a thyroid-specific transcriptional repressor, and its activity is disrupted by the variants. Collectively, we presented genetic evidence linking nongoitrous congenital hypothyroidism and MNG, providing unique insights into thyroid abnormalities.
Topics: Humans; Congenital Hypothyroidism; Microsatellite Repeats; Female; Male; Chromosomes, Human, Pair 15; Pedigree; Goiter, Nodular; Adult; Thyroid Gland; Genetic Linkage
PubMed: 38714868
DOI: 10.1038/s41588-024-01735-5 -
International Journal of Preventive... 2021It is known that some elements are needed for normal thyroid gland functions. Iodine and selenium are the most well-known trace elements necessary for thyroid...
BACKGROUND
It is known that some elements are needed for normal thyroid gland functions. Iodine and selenium are the most well-known trace elements necessary for thyroid metabolism. Selenium is involved in the formation of thyroid hormones and the structure of the deiodinases associated with the development of the thyroid gland. While the role of zinc in thyroid metabolism is at the T3 receptor level, the role of copper is yet not clear.
OBJECTIVE
To compare the levels of serum trace elements such as selenium, zinc, and copper between the patients with euthyroid nodular goiter and healthy participants.
METHODS
This cross-sectional study included 98 patients with euthyroid multinodular goiter and 83 healthy subjects without thyroid disease. The demographics, thyroid hormone levels, and thyroid ultrasonography of the participants were recorded. Venous blood samples were centrifuged and sera samples were stored at -80°C until analysis of selenium, zinc, and copper levels. The levels of trace elements were determined by inductively coupled plasma-mass spectrometry (ICP-MS).
RESULTS
While serum, zinc, and selenium levels were significantly higher in the control group than the nodular goiter group, the copper levels were similar in the two groups. Trace elements were not correlated with thyroid hormone levels and thyroid volumes. Patients in the nodular goiter group were analyzed according to their solitary and multiple nodule status. The solitary and multiple nodular goiter groups were similar in terms of copper, zinc, and selenium levels.
CONCLUSIONS
Deficiency of selenium and zinc may be associated with nodular goiter. Replacement of these trace elements may be useful for the prevention of nodular goiter, especially in deficient regions.
PubMed: 34211677
DOI: 10.4103/ijpvm.IJPVM_337_19 -
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 -
Analytical Cellular Pathology... 2023This study aimed to examine the incidence of incidental papillary microcarcinoma (PMC) and papillary thyroid carcinoma (PTC) in patients with benign multinodular goiter...
INTRODUCTION
This study aimed to examine the incidence of incidental papillary microcarcinoma (PMC) and papillary thyroid carcinoma (PTC) in patients with benign multinodular goiter (MNG) and to compare their relationship with some prognostic factors from a new perspective.
METHODS
Bilateral total thyroidectomy (BTT) was used to evaluate the data of 716 patients who underwent a surgery for MNG. The prognostic data for these tumors and the relationship between patients with bilateral and multifocal tumors were evaluated using statistical tests.
RESULTS
Papillary carcinomas were detected in 201 patients, PMC in 134 of them, and PTCs in 67. Bilaterality was more common in patients with PTCs than in those with PMC. The incidence of bilaterality in male patients with PTC was statistically more common. The presence of intra-tumoral lymphocytes was higher in multifocal PTC cases than in unifocal PTC cases.
CONCLUSION
The results revealed that the number of PMC s was high in incidental tumors, and patients with PTC with male sex, bilaterality, multifocality, and tumor capsule invasion were associated with poor prognosis.
Topics: Humans; Male; Thyroid Cancer, Papillary; Thyroid Neoplasms; Carcinoma, Papillary; Goiter; Retrospective Studies
PubMed: 36691406
DOI: 10.1155/2023/2768344 -
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 -
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 -
Indian Journal of Otolaryngology and... Sep 2017This study aims to evaluate surgical approaches to the management of retrosternal goitre. Between 2004 and 2014, 35 patients (eight males; mean age...
This study aims to evaluate surgical approaches to the management of retrosternal goitre. Between 2004 and 2014, 35 patients (eight males; mean age 67.4 ± 10.9 years) with retrosternal goitre (mainly right-sided in 9, left-sided in 14 and bilateral in 12) underwent surgery. A palpable neck mass was found in 11 (31.4%), stridor in 10 (28.6%) and thyrotoxicosis in 4 (11.4%) cases. 4 (11.4%) patients were asymptomatic. Tracheal compression was detected radiologically in 27 (77.2%) patients with deviation in 18 (51.4%). A collar incision was performed in 34 patients, 6 (17.1%) of whom required additional sternotomy, 1 (2.9%) was assisted by an anterior mediastinotomy. 1 (2.9%) had a right lateral thoracotomy. There was no operative mortality. Transient vocal changes occurred in 3 (8.6%) patients, recurrent laryngeal nerve palsy in 3, atrial fibrillation in 2, and wound complications in 2 (5.7%). Hospital stay ranged from 2 to 12 days (5.5 ± 2.0). Multinodular goitre was found in 33 patients, diffuse goitre in 1 and ectopic thyroid in 1. The average vertical length of goitres in the collar incision group was 7.6 cm compared to 10.6 cm in the sternotomy group. The average weight of specimens was 156.3 g in patients with collar incisions and 307.5 g in the sternotomy group. Removal of retrosternal goitre is more commonly performed via a cervical collar incision with mandatory availability of sternotomy. Radiological measurement of craniocaudal length may predict the risk of sternotomy. Surgical outcomes are not affected by surgical approach.
PubMed: 28929066
DOI: 10.1007/s12070-017-1151-0 -
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 Quarterly Journal of Nuclear... Jun 2021Ultrasonography and radionuclide imaging using [Tc]Pertechnetate or radioactive iodine isotopes are essential tools used during the diagnostic workup of hyperthyroidism... (Review)
Review
Ultrasonography and radionuclide imaging using [Tc]Pertechnetate or radioactive iodine isotopes are essential tools used during the diagnostic workup of hyperthyroidism with or without structural alterations of the thyroid. Color duplex sonography and ultrasound elastography may add important information to find the cause of the hormone excess. During the last few years, hybrid imaging using SPECT/-(CT) or PET-based methods, such as []Iodine-PET/CT or []Iodine-PET/ultrasound have been increasingly used, playing a role in the context of localizing ectopic thyroid tissue or in multinodular goiter. Recently, promising data has been published on the use of [Tc]MIBI imaging in amiodarone induced hyperthyroidism.
Topics: Adult; Aged; Aged, 80 and over; Female; Humans; Hyperthyroidism; Iodine Radioisotopes; Middle Aged; Positron Emission Tomography Computed Tomography; Radionuclide Imaging; Radiopharmaceuticals; Technetium Tc 99m Sestamibi; Thyroid Gland; Ultrasonography
PubMed: 33494588
DOI: 10.23736/S1824-4785.21.03333-1