1/350. A Val 677 activating mutation of the thyrotropin receptor in a Hurthle cell thyroid carcinoma associated with thyrotoxicosis.Thyroid nodules presenting as hot at 131I-scintigraphy are usually benign follicular adenomas. We report a 42-year-old female patient with an autonomously functioning Hurthle cell thyroid carcinoma causing thyrotoxicosis. Genetic analysis of her thyroid tumoral dna revealed a heterozygotic activating mutation of the thyrotropin receptor (TSHR) gene that was located downstream to all of the other genetic alterations currently identified, and is due to a base substitution at codon 677 (normal cytosine replaced by guanine, CTG for GTG causing leucine substitution by valine in the seventh transmembrane domain of the receptor). This mutation was detected in the tumor, but not in the leucocytes from the same patient. The Val 677-TSHR mutant showed constitutive activity, in terms of cyclic adenosine monophosphate (cAMP) production, when permanently transfected in Chinese hamster ovary (CHO) cells. Gsp and ras oncogenes and the p53 tumor suppressor gene were not present in the Hurthle cell cancer. The TSHR mutation in this Hurthle cell carcinoma may be responsible for maintaining differentiated thyroid function and hyperthyroidism.- - - - - - - - - - ranking = 1keywords = thyroid, nodule (Clic here for more details about this article) |
2/350. Normokalemic thyrotoxic periodic paralysis: a new therapeutic strategy.An unusual presentation of periodic paralysis in a Mexican man with thyrotoxicosis is presented. The patient suffered paralysis of the lower extremities without apparent precipitating factors such as hypokalemia, exercise, carbohydrate or alcohol ingestion. hyperthyroidism was managed first with a thyroid suppressant (methimazole) and propranolol. prednisone was added after another episode of paralysis. Definitive treatment of hyperthyroidism was achieved with radioactive iodine, which subsequently required substitution therapy with thyroxine. A moderate dose of thyroxine (100 microg) caused muscular weakness. Treatment of thyrotoxicosis and flaccid paralysis as well as the effects of glucocorticoids on thyroid function are discussed.- - - - - - - - - - ranking = 0.49985518893852keywords = thyroid (Clic here for more details about this article) |
3/350. Severe thyrotoxicosis due to hyperfunctioning liver metastasis from follicular carcinoma: treatment with (131)I and interstitial laser ablation.liver metastases from differentiated thyroid tumors are unusual clinical findings, and are only rarely hyperfunctioning. We report a case of thyrotoxicosis caused by a huge and surgically unresectable liver metastasis from follicular thyroid cancer, unresponsive to treatment with large doses of thionamides. To avoid the hazardous side effects of (131)I treatment in a severely thyrotoxic patient, a preliminary debulking of the liver mass was performed by means of percutaneous interstitial laser photocoagulation. Three treatments (total energy delivery: 7200 J) were performed under ultrasound guidance, with no serious complications, during a 2-week period. One month later, serum thyroid hormones had decreased, general condition was improved, and magnetic resonance evaluation revealed large and well-defined areas of necrosis of metastatic tissue. During the following 10 months, the patient underwent 3 radioiodine treatments. Eighteen months after diagnosis, thyroid hormones were within normal levels, liver mass decreased, and the clinical condition markedly improved. The combination of percutaneous interstitial laser photocoagulation treatment and radioiodine therapy made possible the effective management of a hyperfunctioning and surgically untreatable liver metastasis from thyroid follicular carcinoma, avoiding the side effects of (131)I therapy in a thyrotoxic patient and increasing the effectiveness of radioiodine-induced neoplastic tissue ablation.- - - - - - - - - - ranking = 0.62481898617315keywords = thyroid (Clic here for more details about this article) |
4/350. Long-term follow-Up of an infant with thyrotoxicosis due to germline mutation of the TSH receptor gene (Met453Thr).A 18-year clinical follow-up period in a male patient with a germline TSH-R gene mutation (Met453Thr) is described. Nonautoimmune thyrotoxicosis was diagnosed at the age of 7 months. The patient had exophthalmus, failure to thrive, advanced bone age and no goiter. Long-term antithyroid drug treatment (ATD) was necessary during childhood. At the age of 7 years he developed a goiter. Subtotal thyroidectomy was performed at the age of 9 years, followed by repeated ablative radiotherapy at the age of 9.5-13 years due to a toxic multinodular goiter. After 13 years ATD could be discontinued and the patient was euthyroid until 16 years of age, where L-thyroxine substitution had to be started. The exophthalmus diminished, and had disappeared at the age of 18 years, when CT scan of the orbit was performed. Conclusion: TSH-R mutation must be considered in early nonautoimmune thyrotoxicosis. A very aggressive treatment strategy is necessary.- - - - - - - - - - ranking = 0.37489139170389keywords = thyroid (Clic here for more details about this article) |
5/350. A germline mutation of the thyrotropin receptor gene associated with thyrotoxicosis and mitral valve prolapse in a Chinese family.Activating mutations of the TSH receptor (TSH-R) have been reported to result in toxic adenomas, multinodular goiters, sporadic neonatal hyperthyroidism, and familial autosomal dominant nonautoimmune hyperthyroidism. To date, all descriptions of such mutations, whether somatic or genomic, have been confined to the Caucasian population. We describe a Chinese family in whom a germline proline to serine substitution in position 639 resulted in familial thyrotoxicosis. This constitutively activating mutation has been previously described in a hyperfunctioning thyroid nodule. The three children in this family developed thyrotoxicosis during childhood; their father was diagnosed as thyrotoxic at the age of 38 yr. Two of the children and the father had mitral valve prolapse (MVP) associated with mitral regurgitation. There was a close temporal relationship between the onset of thyrotoxicosis and the diagnosis of mitral valvular disease in these patients. An increased prevalence of MVP has been reported in Graves' disease and chronic lymphocytic thyroiditis, but the pathophysiological mechanisms linking MVP and autoimmune thyroid disease are still not understood. This is the first report of an association between activating TSH-R mutations and MVP. We postulate that TSH-R activation may increase the clinical expression of MVP in genetically predisposed individuals.- - - - - - - - - - ranking = 0.73320872439137keywords = thyroid, thyroid nodule, nodule (Clic here for more details about this article) |
6/350. Thyroid disease in pregnancy.This review article provides a broad overview of thyroid disease and pregnancy.- - - - - - - - - - ranking = 0.12496379723463keywords = thyroid (Clic here for more details about this article) |
7/350. Appearance of severe jaundice after radiometabolical treatment of thyrotoxicosis.The appearance of moderate jaundice with mildly raised levels of plasma bilirubin is an uncommon complication of thyrotoxicosis and is usually accompanied by signs of right heart failure. Some described cases were actually related, at least in part, to autoimmune chronic hepatitis. In this paper we describe a case of thyrotoxicosis accompanied by deep jaundice with very high levels of bilirubin occuring in the absence of cardiac failure and with no signs of hepatitis. jaundice disappeared shortly after the start of thyrostatic drug treatment, supporting a possible detrimental effect of hyperthyroidism on the hepatic bilirubin metabolism.- - - - - - - - - - ranking = 0.12496379723463keywords = thyroid (Clic here for more details about this article) |
8/350. A case of thyrotoxicosis and reversible systolic cardiac dysfunction.A woman with congestive heart failure and reduced left ventricular ejection fraction associated with hyperthyroidism is reported. Congestive heart failure resolved and left ventricular ejection fraction normalized within three weeks of treatment of her hyperthyroidism. The literature on previously reported cases of reversible systolic heart failure associated with hyperthyroidism is reviewed and the possible mechanisms leading to systolic dysfunction and congestive heart failure in thyrotoxicosis are discussed. One such mechanism may be the action of thyroid hormone on altering gene expression in cardiac cells; another could be the chronic tachycardia associated with thyrotoxicosis. Although it is a not a common cause of systolic heart failure, thyrotoxicosis should be considered in the differential diagnosis of cardiomyopathies because it is a potentially reversible cause.- - - - - - - - - - ranking = 0.49985518893852keywords = thyroid (Clic here for more details about this article) |
9/350. inflammation of the cardiac conduction system in a case of hyperthyroidism.A 37-year-old female showed signs of hyperthyroidism 2 weeks before death after a partial thyroidectomy was carried out 15 years previously. An examination 3 days before death revealed a normal blood cell count, an increased level of thyroidal hormones, sinus tachycardia and a high blood pressure of 170/90 mm Hg. A hyperthyroidism was diagnosed and therapy with carbimazol (2 x 10 mg) was started but 2 days later fever and chill occurred and before death short phases of unconsciousness and dyspnoea. The autopsy findings showed an interstitial inflammation of the AV-node, the His-bundle and its branches which can correlate with typical ECG changes in hyperthyroidism.- - - - - - - - - - ranking = 1.1246741751117keywords = thyroid (Clic here for more details about this article) |
10/350. Variable phenotype associated with Ser505Asn-activating thyrotropin-receptor germline mutation.Constitutively activating thyrotropin-receptor (TSHR) germline mutations have been identified as a molecular cause of hereditary nonautoimmune hyperthyroidism. To date, seven cases of familial and six cases of sporadic nonautoimmune hyperthyroidism have been described associated with 13 different TSHR germline mutations, with a variable clinical course. We report the case of a 12.3-year-old girl with a history of thyrotoxicosis since the age of 11 months who developed diffuse thyroid hyperplasia at the age of 4.5 years. The patient has required continuous moderate-dose antithyroid medication, to maintain euthyroidism. There were no clinical signs of autoimmune thyroid disease and autoantibodies were negative. An activating germline mutation in the TSHR gene was suspected and was found in TSHR exon 10 (Ser505Asn) but was absent in the girl's mother. This same mutation, was first reported in a patient with severe intrauterine hyperthyroidism with early and progressive goiter development. Our patient had a significantly less severe clinical course with later onset compared to the original patient with the same TSHR germline mutation.- - - - - - - - - - ranking = 0.87474658064241keywords = thyroid (Clic here for more details about this article) |
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