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Familial Cancer Oct 2023DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages....
DICER1 syndrome is an inherited condition associated with an increased risk of developing hamartomatous and neoplastic lesions in diverse organs, mainly at early ages. Germline pathogenic variants in DICER1 cause this condition. Detecting a variant of uncertain significance in DICER1 or finding uncommon phenotypes complicate the diagnosis and can negatively impact patient care. We present two unrelated patients suspected to have DICER1 syndrome. Both females (aged 13 and 15 years) presented with multinodular goiter (thyroid follicular nodular disease) and ovarian tumours. One was diagnosed with an ovarian Sertoli-Leydig cell tumour (SLCT) and the other, with an ovarian juvenile granulosa cell tumour, later reclassified as a retiform variant of SLCT. Genetic screening showed no germline pathogenic variants in DICER1. However, two potentially splicing variants were found, DICER1 c.5365-4A>G and c.5527+3A>G. Also, typical somatic DICER1 RNase IIIb hotspot mutations were detected in the thyroid and ovarian tissues. In silico splicing algorithms predicted altered splicing for both germline variants and skipping of exon 25 was confirmed by RNA assays for both variants. The reclassification of the ovarian tumour, leading to recognition of the association with DICER1 syndrome and the characterization of the germline intronic variants were all applied to recently described DICER1 variant classification rules. This ultimately resulted in confirmation of DICER1 syndrome in the two teenage girls.
Topics: Male; Female; Adolescent; Humans; Sertoli-Leydig Cell Tumor; Germ-Line Mutation; Ovarian Neoplasms; Thyroid Gland; Ribonuclease III; Neoplastic Syndromes, Hereditary; Germ Cells; Mutation; DEAD-box RNA Helicases
PubMed: 37248399
DOI: 10.1007/s10689-023-00336-1 -
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 -
Annales D'endocrinologie Sep 2019Cardiothyreosis (CT) or thyrotoxic heart disease is associated with higher morbidity and mortality than the other forms of hyperthyroidism. Its risk factors have been...
UNLABELLED
Cardiothyreosis (CT) or thyrotoxic heart disease is associated with higher morbidity and mortality than the other forms of hyperthyroidism. Its risk factors have been analyzed in a limited number of studies. The aims of our study were to investigate the prevalence of CT and its risk factors in patients with hyperthyroidism.
METHODS
We identified 538 patients with a hospital discharge diagnosis of hyperthyroidism from January 2000 to December 2015. Among them, 35 patients were diagnosed as having CT. Their demographic, clinical and biological characteristics were studied and compared with those of 72 controls (patients admitted for hyperthyroidism without CT) randomly selected using univariate and multivariate analysis.
RESULTS
The prevalence of CT in patients hospitalized with overt hyperthyroidism was 6.5%. The cardiac complications seen were atrial fibrillation (AF) in 33 cases (6.1%) and cardiac heart failure (CHF) in 11 cases (2%). The risk factors of CT were age greater than 50 years (OR=13.1; 95% CI [4.9-34.4]), low socioeconomic status (OR=2.8; 95% CI [1.2-6.7]), low educational level (OR=3.1; 95% CI [1.2-8.3]), personal history of hypertension (OR=3.5; 95% CI [1.1-11.2]) and a multinodular toxic goiter as the etiology of hyperthyroidism (OR=4.6; 95% CI [1.6-13.9]). After multivariate analysis, age greater than 50 years was the only independent risk factor of CT (adjusted OR=11.6; 95% CI [2.7-49.5]). Severe biological hyperthyroidism (FT4 >3 times normal) was associated with a lower risk of CT (adjusted OR=0.2; 95% CI [0.1-0.9]).
CONCLUSIONS
The prevalence of CT in patients with overt hyperthyroidism was relatively low. Cardiac complications were AF and CHF with a clear predominance of AF. Advanced age was the only independent risk factor of CT. Cardiac complications may be seen even if hyperthyroidism is not biologically severe.
Topics: Adolescent; Adult; Aged; Atrial Fibrillation; Case-Control Studies; Child; Child, Preschool; Female; Goiter, Nodular; Heart Diseases; Heart Failure; Humans; Hypertension; Hyperthyroidism; Male; Middle Aged; Prevalence; Retrospective Studies; Risk Factors; Thyrotoxicosis; Young Adult
PubMed: 31235068
DOI: 10.1016/j.ando.2017.11.004 -
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 -
European Journal of Endocrinology Feb 2015Multinodular goiter (MNG) is a very common thyroid disorder determined by diverse goitrogenic factors, the most important one being iodine deficiency. The clinical... (Review)
Review
Multinodular goiter (MNG) is a very common thyroid disorder determined by diverse goitrogenic factors, the most important one being iodine deficiency. The clinical presentation of a patient with MNG varies from a completely asymptomatic goiter to a life-threatening disease due to upper airway compression. Patients can develop underlying subclinical or overt hyperthyroidism due to autonomously hyperfunctioning nodules. In the absence of clinical, ultrasonographic, or cytological findings suggestive of malignancy, the best therapeutic approach for a patient with MNG will depend on the size and location of the goiter, the presence and severity of compressive symptoms, and the presence or absence of thyrotoxicosis. There is still no consensus regarding the treatment of atoxic MNGs. Hence, its optimal management remains controversial; possible therapies include levothyroxine (lT4), surgery, and radioactive iodine ((131)I). Suppressive treatment with lT4 is discouraged due to the development of sub-clinical or overt hyperthyroidism and to its low efficacy when compared with surgery or (131)I. Total thyroidectomy is effective; however, it is associated with the risk of surgical complications and is often refused by the patient. (131)I therapy is an alternative to thyroid surgery to reduce the size of benign MNGs. Based on the ability of recombinant human TSH (rhTSH) to more than double thyroid (131)I uptake, this compound has been evaluated as an adjuvant to (131)I in the treatment of MNG. Very small doses of rhTSH have been used in patients with MNG and few safety concerns have been observed, but the ideal dose, both effective and safe, is yet to be defined.
Topics: Animals; Disease Management; Goiter, Nodular; Humans; Iodine Radioisotopes; Recombinant Proteins; Thyrotropin
PubMed: 25189867
DOI: 10.1530/EJE-14-0608 -
Current Medical Imaging 2021Hyperthyroidism is a common systemic disorder where Graves' disease is known as the leading cause of the disease. Thyroid stimulating hormone, T4 and T3 antibody assay...
BACKGROUND
Hyperthyroidism is a common systemic disorder where Graves' disease is known as the leading cause of the disease. Thyroid stimulating hormone, T4 and T3 antibody assay is usually performed for the diagnosis of the pathology. However, with uncertainty in the results and in order to estimate the magnitude and the exact cause of the disease, radioactive iodine uptake (RAIU) test is recommended. The aim of this study is to evaluate underlying pathology in the patients presenting hyperthyroidism using RAIU test results.
METHODS
This is a cross-sectional retrospective study conducted on the patients with hyperthyroidism referred to Shahid Madani Hospital in Khorramabad. Data regarding the biochemical analysis and RAIU test was collected from the records and a questionnaire based on demographic and clinical information was completed for each patient.
RESULTS
Of 137 patients presenting hyperthyroidism, 62.04% presented with Graves' disease, 24.08% with toxic multinodular goiter and 13.86% with toxic adenoma. 24-hour RAIU test showed that the percent of radioiodine uptake was most in toxic adenoma with 67.7%, Graves' disease 53.5% and multinodular goiter 39%, respectively. From the age-based analysis, we found that Graves' was most common in 20-30 years old individuals accounting for 34%, multinodular goiter in 50+ aged individuals with 36.3% and toxic adenoma was most prevalent in 30-40 and 50+ aged patients, with 26.3%. In our population of interest, 81.8% toxic multinodular goiter patients were females.
CONCLUSION
Our study presents the outcome of RAIU tests in hyperthyroidism based on the underlying pathologies. We also conclude, in light of other findings, that Graves' disease is the most common cause of hyperthyroidism in our population.
Topics: Adult; Aged; Cross-Sectional Studies; Female; Humans; Hyperthyroidism; Iodine Radioisotopes; Retrospective Studies; Thyroid Neoplasms; Tomography, X-Ray Computed; Young Adult
PubMed: 33213335
DOI: 10.2174/1573405616666201118142752 -
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 -
The American Surgeon Dec 2017Retrosternal goiter prevalence is 5 to 40 per cent according to classifications in goiter series. Goiters with mediastinal extension were reported to be related with...
Retrosternal goiter prevalence is 5 to 40 per cent according to classifications in goiter series. Goiters with mediastinal extension were reported to be related with higher cancer rates. In our study, we aimed to investigate whether cancer incidence increased in retrosternal goiters compared with the cervical ones. Three hundred and ninety consecutive patients, who had surgery because of retrosternal goiter in Istanbul University Medical Faculty Department of General Surgery between 2005 and 2015 were included in the study (Group 1). Control group included 880 patients who had surgery because of nontoxic multinodular goiter in the same period (Group 2). Preoperative ultrasonography (USG) was performed to each patient. Fine-needle aspiration biopsy was performed in suspicious nodules and results were recorded. Carcinomas in histopathological examination were classified as intrathorasic and extrathorasic. Diagnostic rates of USG results were compared with histopathologic cancer results. Papillary carcinoma was diagnosed in 76 patients with retrosternal goiter (19%) and in 200 patients in the control group (22%). No statistically significant difference was detected between groups regarding the tumor rates (P > 0.05). One hundred and forty-four tumoral foci were detected in 76 patients with papillary carcinoma in retrosternal goiter patients. Three hundred and seventy tumoral foci were detected in 200 patients with papillary carcinoma in the control group. In the retrosternal goiter group, 104 carcinoma lesions of 144 papillary carcinomas were intrathorasic (72%). No statistically significant difference was detected between intrathorasic (2.1 ± 1 cm) and extrathorasic regiones (1.9 ± 0.8 cm) regarding the tumor size P > 0.05. When patients with and without cancer in the retrosternal goiter group were compared regarding familial thyroid cancer history, radiation to the neck, and cervical adenopathy, no statistically significant difference was detected. Cancer incidence of retrosternal goiters was not higher than that of the cervical ones. Yet, cancer foci of retrosternal goiters were commonly located in the intrathorasic area and were not detected with USG. Depending on these findings, we suggest that all retrosternal goiters should be surgically treated.
Topics: Aged; Biopsy, Fine-Needle; Carcinoma, Papillary; Female; General Surgery; Goiter, Substernal; Humans; Incidence; Male; Middle Aged; Prevalence; Prospective Studies; Risk Factors; Thyroid Function Tests; Thyroid Neoplasms; Turkey
PubMed: 29336760
DOI: No ID Found -
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 -
Indian Journal of Otolaryngology and... Dec 2023Thyroid disorders are the most common endocrine disorder affecting the general population. Diseases of the thyroid glands present with either an alteration of hormone...
Thyroid disorders are the most common endocrine disorder affecting the general population. Diseases of the thyroid glands present with either an alteration of hormone secretion or as an enlargement of the thyroid gland. They vary from non-neoplastic to neoplastic lesions. The prevalence and pattern of these disorders depend on the factors like age, sex and geographic patterns. The aim of the study is to determine the histomorphological features of thyroid lesions in thyroidectomy specimens in patients who underwent thyroidectomy in tertiary care hospital. This is a retrospective study, conducted in tertiary care centre attached to government hospital. All thyroidectomy specimens received in the Department of Pathology, from January 2021 to January 2023 were included in the study. The patients who underwent thyroidectomy in view of thyroid swelling, over a period of 2 years, were selected. Data was collected from histopathological examinations done on the thyroidectomy specimens. Different histomorphological patterns were observed on microscopy. The thyroid lesions were classified into Neoplastic and Non-neoplastic based on histomorphological features and the data was segregated according to this and analysed. There was a total of 194 specimens, of which 175 were from female and 19 were from male patients. Maximum number of thyroid lesions were seen in the age group of 30-50 years. Among 194 patients, 52 (26.8%) were found to have neoplastic lesions, of whom, 25 (12.8%) patients had benign and 27(14%) patients had malignant lesion. 141(72.7%) patients had non neoplastic conditions. One patient had lymphoproliferative disorder (0.5%). In Neoplastic lesions, Among Benign lesions, Follicular adenoma was found be present in 25 patients. In malignant lesions, Papillary carcinoma was the most commonly found lesion (25 cases, 12.9%). 141(73%) patients had Non neoplastic conditions. Most commonly occurring Non neoplastic lesions were Nodular goiter (50 cases, 25.8%) followed by Colloid goiter (34cases, 17.5%), Multinodular goiter (33 cases, 17%), Hashimoto's thyroiditis (5 cases, 2.6%). Followed by Chronic lymphocytic thyroiditis (4 cases, 2.1%). The frequency of carcinoma is more common in females amongst the total thyroid lesions. Papillary carcinoma was the most frequent malignancy (12.9%) among the thyroidectomy specimens. Papillary carcinoma was the commonest malignant lesion with female preponderance whereas, nodular goiter and colloid goiter were the commonest non neoplastic lesions with female preponderance.
PubMed: 37974725
DOI: 10.1007/s12070-023-03916-w