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Journal of Endocrinological... Mar 2020Acromegaly is a rare disease caused by an excess of growth hormone and insulin-like growth factor 1. It is usually diagnosed because of typical signs such as... (Review)
Review
BACKGROUND
Acromegaly is a rare disease caused by an excess of growth hormone and insulin-like growth factor 1. It is usually diagnosed because of typical signs such as macroglossia, acral enlargement, jaw prognathism and malocclusion. Systemic complications are a major cause of morbidity and mortality in acromegaly, and many patients remain undiagnosed for several years. Increased ultrasound (US) application in the general population, and including among acromegaly patients, has revealed many suggestive features which, taken together with clinical suspicion, could induce suspicion of this disease.
PURPOSE
This review describes main US features in acromegaly. Echocardiography shows a typical cardiomyopathy, characterized by left ventricular hypertrophy, diastolic and systolic dysfunction, aortic and mitral regurgitation, and increased aortic root diameters. US preclinical markers of atherosclerosis, such as intima media thickness (IMT), seem also to be impaired. Visceromegaly and increased organ stiffness are other features of acromegaly, including enlarged prostate, kidneys, liver, and thyroid. In addition, other US findings are: renal cysts, micronephrolithiasis, impairment of renal haemodynamic parameters, gallstones and gallbladder polyps, hepatic steatosis, thyroid nodules, multinodular goiter, and polycystic ovaries. Musculoskeletal US findings are increased cartilage thickness, impaired density and elasticity of bones, nerve enlargement, carpal and cubital tunnel syndrome, and trigger finger.
CONCLUSIONS
Acromegaly patients frequently present systemic complications and a diagnostic delay. US features of acromegaly are not specific, but could potentially have a key role in early detection of the disease in the presence of typical clinical features.
Topics: Acromegaly; Cardiomyopathies; Carotid Intima-Media Thickness; Echocardiography; Humans; Ultrasonography, Doppler
PubMed: 31502218
DOI: 10.1007/s40618-019-01111-9 -
Biological Trace Element Research Nov 2021Modest progress has been made in understanding the role of trace elements as endocrine disruptors. The aim of this study was to examine whether there is a change in the...
Modest progress has been made in understanding the role of trace elements as endocrine disruptors. The aim of this study was to examine whether there is a change in the content of trace elements in thyroid disease, as well as whether the ratio of elements could be considered a blood marker for thyroid disease. In addition, this study examined the influence of biological and clinical/pathological parameters on the elemental profile. Blood samples from patients diagnosed with multinodular goiter (MNG), thyroid adenoma (TA), and thyroid cancer (TC) were examined and compared with control samples using chemometric analysis. The concentrations of essential (Mn, Co, Cu, Zn, Se) and toxic elements (Ni, As, Cd, Pb, U) were determined by ICP-MS. This study showed for the first time that the content of Mn, Co, Ni, Cu, Zn, Se, and Pb in pathological blood samples was significantly lower compared to the control, while opposite results were obtained for As, Cd, and U. Based on the classification model, the most important trace metals for discrimination of MNG and TC from the control group (CG) were Co and Zn, while Co, Zn, and Mn influenced the distinction of CG from TA. Moreover, it was found that Cu/Zn and U/Se ratios had significantly increased values in pathological blood samples leading to the possibility of establishing new circulating screening markers. These findings can represent significant translational information since these diseases are widespread and the diagnostic procedure is still difficult in many cases.
Topics: Endocrine Disruptors; Goiter; Humans; Thyroid Diseases; Thyroid Neoplasms; Trace Elements
PubMed: 33409915
DOI: 10.1007/s12011-020-02542-9 -
Cureus Nov 2023Normal thyroid hormone levels are crucial for the homeostasis of many metabolic cycles and processes throughout the human body. Thyroid dysfunction, such as... (Review)
Review
Normal thyroid hormone levels are crucial for the homeostasis of many metabolic cycles and processes throughout the human body. Thyroid dysfunction, such as thyrotoxicosis, can result from many different etiologies, including Graves' disease (GD), toxic multinodular goiter (MNG), and toxic adenoma. These hyperthyroid disease states can cause devastating complications and disease, including the disruption of the bone remodeling cycle and skeletal development, which can result in osteoporosis. Osteoporosis is characterized by a decrease in bone mineral density and a propensity for fragility fractures. In addition to patients with overt hyperthyroidism, studies have provided evidence of other high-risk patient demographics, such as individuals with subclinical hyperthyroidism and postmenopausal women, who may be at an increased risk for the development of secondary osteoporosis. The treatment of patients with hyperthyroid-induced osteoporosis often requires a multifaceted management plan that may be unique to each patient's situation. Antithyroid therapy is often the first step in treating this disease and may include thioamide medications. Radioactive iodine-131 therapy (RAI) and the surgical removal of the thyroid gland may also be reasonable approaches for restoring normal thyroid function. Following thyrotoxicosis mitigation, antiresorptive drugs such as bisphosphonates, calcitonin, and selective estrogen receptor modulators (SERMs) may be used to counteract decreased bone mineral density (BMD). Additionally, the implementation of vitamin D, calcium supplements, and weight-bearing exercise may also reduce bone loss. While the effects of thyroid stimulating hormone (TSH) and triiodothyronine (T3) on bone remodeling have been studied in the past, more research is needed to identify unknown mechanisms and develop future improved treatments for this condition.
PubMed: 38098934
DOI: 10.7759/cureus.48798 -
Annales de Pathologie Apr 2020Familial thyroid cancers of follicular origin are rare and include syndromic and non-syndromic tumours. In familial adenomatous polyposis, the prevalence of papillary... (Review)
Review
Familial thyroid cancers of follicular origin are rare and include syndromic and non-syndromic tumours. In familial adenomatous polyposis, the prevalence of papillary thyroid cancer is 2-12% and in 20-40% of cases it is a cribriform-morular papillary thyroid carcinoma. Morules and cribriform pattern are the two main typical criteria, associated with a nuclear and cytoplasmic immunopositivity for beta catenin. DICER1 syndrome is associated with pleuropneumoblastoma, ovarian tumors and thyroid pathology (multinodular goiter and less frequently a well-differentiated thyroid cancer without microscopic particularity). Cowden syndrome is characterized by multiple hamartomas and two-thirds of patients develop thyroid pathology, including multinodular goiter (50-67%) and cancer (35%), the latter being one of the major diagnostic criteria of the syndrome. Classic triad of Carney complex associates lentiginosis, myxoid tumors, and various endocrine abnormalities; thyroid pathology occurs in 10% of cases and may be benign or malignant. In Werner's syndrome, thyroid cancer is present in 18% of cases. McCune-Albright syndrome is characterized by fibrous dysplasia, café-au-lait spots and various endocrinopathies including hyperthyroidism and nodular hyperplasia. Non-syndromic thyroid cancers, which represent the majority of familial cancers, are most often papillary carcinomas. In daily practice, in the presence of multiple benign thyroid nodules and/or thyroid cancer in a young person, or with family thyroid diseases, the pathologist should be aware about hereditary predispositions to propose an oncogenetic consultation.
Topics: Adenomatous Polyposis Coli; Carcinoma, Papillary, Follicular; DEAD-box RNA Helicases; Genetic Predisposition to Disease; Genetic Testing; Goiter, Nodular; Hamartoma Syndrome, Multiple; Humans; Hyperthyroidism; Neoplastic Syndromes, Hereditary; Oncogenes; Ribonuclease III; Thyroid Cancer, Papillary; Thyroid Gland; Thyroid Neoplasms; Werner Syndrome
PubMed: 32192806
DOI: 10.1016/j.annpat.2020.02.011 -
Human Genetics Apr 2022Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane... (Review)
Review
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a transmembrane exchanger of anions and bases. The mutant SLC26A4 phenotype is characterized by inner ear malformations, including an enlarged vestibular aqueduct (EVA), incomplete cochlear partition type II and modiolar hypoplasia, progressive and fluctuating hearing loss, and vestibular dysfunction. A thyroid iodine organification defect can lead to multinodular goiter and distinguishes Pendred syndrome from DFNB4. Pendred syndrome and DFNB4 are each inherited as an autosomal recessive trait caused by biallelic mutations of SLC26A4 (M2). However, there are some EVA patients with only one detectable mutant allele (M1) of SLC26A4. In most European-Caucasian M1 patients, there is a haplotype that consists of 12 variants upstream of SLC26A4, called CEVA (Caucasian EVA), which acts as a pathogenic recessive allele in trans to mutations affecting the coding regions or splice sites of SLC26A4. This combination of an M1 genotype with the CEVA haplotype is associated with a less severe phenotype than the M2 genotype. The phenotype in EVA patients with no mutant alleles of SLC26A4 (M0) has a very low recurrence probability and is likely to be caused by other factors.
Topics: Deafness; Goiter, Nodular; Hearing Loss; Hearing Loss, Sensorineural; Humans; Membrane Transport Proteins; Mutation; Phenotype; Sulfate Transporters; Vestibular Aqueduct
PubMed: 34345941
DOI: 10.1007/s00439-021-02311-1 -
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 -
Endocrinology and Metabolism (Seoul,... Dec 2022This study compared the degree of sustained control of hyperthyroidism in patients with toxic multinodular goiter (TMNG) treated with long-term methimazole (LT-MMI) or... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGRUOUND
This study compared the degree of sustained control of hyperthyroidism in patients with toxic multinodular goiter (TMNG) treated with long-term methimazole (LT-MMI) or radioactive iodine (RAI).
METHODS
In this clinical trial, 130 untreated patients with TMNG were randomized to either LT-MMI or RAI treatment. Both groups were followed for 108 to 148 months, with median follow-up durations of 120 and 132 months in the LT-MMI and RAI groups, respectively. Both groups of patients were followed every 1 to 3 months in the first year and every 6 months thereafter.
RESULTS
After excluding patients in whom the treatment modality was changed and those who were lost to follow-up, 53 patients in the LT-MMI group and 54 in the RAI group completed the study. At the end of the study period, 50 (96%) and 25 (46%) patients were euthyroid, and two (4%) and 25 (46%) were hypothyroid in LT-MMI and RAI groups, respectively. In the RAI group, four (8%) patients had subclinical hyperthyroidism. The mean time to euthyroidism was 4.3±1.3 months in LT-MMI patients and 16.3± 15.0 months in RAI recipients (P<0.001). Patients treated with LT-MMI spent 95.8%±5.9% of the 12-year study period in a euthyroid state, whereas this proportion was 72.4%±14.8% in the RAI-treated patients (P<0.001). No major treatment-related adverse events were observed in either group.
CONCLUSION
In patients with TMNG, LT-MMI therapy is superior to RAI treatment, as shown by the earlier achievement of euthyroidism and the longer duration of sustained normal serum thyrotropin.
Topics: Humans; Methimazole; Iodine Radioisotopes; Thyroid Neoplasms; Hyperthyroidism; Goiter, Nodular
PubMed: 36415961
DOI: 10.3803/EnM.2022.1476 -
Medicine Aug 2023Inflammation plays an important role in the pathogenesis of many cancer types and is associated with thyroid malignancy. The systemic immune-inflammation index (SII) is...
Inflammation plays an important role in the pathogenesis of many cancer types and is associated with thyroid malignancy. The systemic immune-inflammation index (SII) is a new inflammation marker that can be calculated from routine complete blood count (CBC). This study investigated the association between SII, a marker derived from routine CBC, and different thyroid diseases. The objective was to determine if this simple inflammation marker can distinguish between benign and malignant thyroid diseases. The medical records of all patients who underwent surgical treatment for thyroid disease between January 2018 and January 2022 were systematically evaluated. The routine preoperative CBC parameters' demographic, clinical, and laboratory data were recorded. A total of 241 patients were included in the study, and the patients were grouped as having multinodular goiter (n = 125), lymphocytic thyroiditis (n = 44), and papillary thyroid carcinoma (PTC) (n = 73) according to pathological results. The SII was defined as the ratio of the total count of neutrophils × platelets divided by the lymphocyte count. Subgroup analysis of patients was performed according to the presence of follicular variant or thyroiditis, micro or macro carcinoma, or bilaterality of the tumor. The SII level was significantly higher in the PTC group than in the lymphocytic thyroiditis and multinodular goiter groups (P < .001). When we grouped the patients according to the presence of PTC as benign or malignant, the optimum cutoff point for SII level was found 654.13, with 73.8% sensitivity and 72.3% specificity from ROC analysis. In the subgroup analysis of patients with PTC, the SII level was similar according to the clinicopathological characteristics of the tumor. The differential diagnosis of thyroid diseases is important for patient management. We found that preoperative SII levels were significantly elevated in patients with PTC compared to those with benign thyroid disorders, and this simple marker can be used for the differentiation of benign and malignant thyroid disease.
Topics: Humans; Thyroiditis, Autoimmune; Carcinoma, Papillary; Thyroid Neoplasms; Thyroid Cancer, Papillary; Hashimoto Disease; Inflammation; Goiter; Retrospective Studies; Lymphocytes
PubMed: 37543770
DOI: 10.1097/MD.0000000000034596 -
BMC Endocrine Disorders Jun 2021Thyrotoxicosis is the state of thyroid hormone excess. But, in sub-Saharan Africa (SSA), specifically Northern Ethiopia, scientific evidence about thyrotoxicosis and its...
BACKGROUND
Thyrotoxicosis is the state of thyroid hormone excess. But, in sub-Saharan Africa (SSA), specifically Northern Ethiopia, scientific evidence about thyrotoxicosis and its cardiac complications like dilated cardiomyopathy is limited. Therefore, this study aimed to explore the thyrotoxicosis presentation and management and identify factors associated with dilated cardiomyopathy in a tertiary hospital in Northern Ethiopia.
METHODS
An institution-based cross-sectional study was conducted in Ayder Comprehensive Specialized Hospital from 2017 to 2018. Data from 200 thyrotoxicosis cases were collected using a structured questionnaire. After describing variables, logistic regression was conducted to identify independent predictors of dilated cardiomyopathy. Statistical significance was declared at p < 0.05.
RESULTS
Mean age at presentation of thyrotoxicosis was 45 years and females accounted for 89 % of the cases. The most frequent etiology was multinodular toxic goiter (51.5 %). As well, the most common symptoms and signs were palpitation and goiter respectively. Thyroid storm occurred in 6 % of the cases. Out of 89 patients subjected to echocardiography, 35 (39.3 %) of them had dilated cardiomyopathy. And, the odds of dilated cardiomyopathy were higher in patients who had atrial fibrillation (AOR = 15.95, 95 % CI:5.89-38.16, p = 0.001) and tachycardia (AOR = 2.73, 95 % CI:1.04-7.15, p = 0.040). All patients took propylthiouracil and 13.0 % of them experienced its side effects. Concerning β-blockers, propranolol was the most commonly (78.5 % of the cases) used drug followed by atenolol (15.0 %). Six patients underwent surgery.
CONCLUSIONS
In developing countries like Ethiopia, patients with thyrotoxicosis have no access to methimazole which is the first-line anti-thyroid drug. Besides, they greatly suffer from dilated cardiomyopathy (due to late presentation) and side effects of propylthiouracil. Therefore, we recommend that patients should get adequate health information about thyrotoxicosis and anti-thyroid drugs including their side effects. Additionally, hospitals and other concerned bodies should also avail of TSH tests and methimazole at an affordable cost. Furthermore, community awareness about iodized salt and iodine-rich foods should be enhanced.
Topics: Adolescent; Adult; Antithyroid Agents; Cardiomyopathy, Dilated; Cross-Sectional Studies; Developing Countries; Ethiopia; Female; Goiter, Nodular; Humans; Iodine; Male; Methimazole; Middle Aged; Sodium Chloride, Dietary; Thyrotoxicosis; Young Adult
PubMed: 34182968
DOI: 10.1186/s12902-021-00796-5