Arquivos brasileiros de endocrinologia e metabologia最新文献

[Multiple endocrine neoplasia type 2]. [多发性内分泌肿瘤2型]。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2020-02-10 DOI: 10.32388/0roru0

A. Maia, J. Gross, Márcia Puñales

{"title":"[Multiple endocrine neoplasia type 2].","authors":"A. Maia, J. Gross, Márcia Puñales","doi":"10.32388/0roru0","DOIUrl":"https://doi.org/10.32388/0roru0","url":null,"abstract":"The term multiple endocrine neoplasia (MEN) was introduced by Steiner et al. in 1968 to describe disorders that include a combination of endocrine tumors. The Wermer syndrome was designed as MEN 1 and the Sipple syndrome as MEN 2. Sizemore et al. (1974) completed that the MEN 2 category included 2 subgroups: patients with medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid disease and a normal appearance (MEN 2A) and other without parathyroid disease but with mucosal neuromas and mesodermal abnormalities (MEN 2B). MTC is usually the first tumor diagnosed. The diagnosis of MTC has several implications: disease extent should be evaluated, pheochromocytoma and hyperparathyroidism should be screened and whether the MTC is sporadic or hereditary should be determined by a direct analysis of the RET proto-oncogene. Here, the pathological characteristics, genetic abnormalities, and clinical features of MEN 2 are discussed. The diagnostic and therapeutic approaches used to patients with clinical disease and carriers identified through familiar screening are also described. Progresses related especially to genetic screening and earlier intervention have permitted an improvement in the long-term outcome. However, treatment for disseminated disease is still ineffective.","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44120973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 53

[Thyroid hormone resistance syndrome]. [甲状腺激素抵抗综合征]。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2020-02-08 DOI: 10.32388/gopjpw

G. Carvalho, H. Ramos

引用次数: 9

Large thyroid cyst in a patient with congenital hypothyroidism. 先天性甲状腺功能减退症患者的大甲状腺囊肿。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003287

Mahmoud Ali Kaykhaei, Zahra Heidari, Ahmad Mehrazin

{"title":"Large thyroid cyst in a patient with congenital hypothyroidism.","authors":"Mahmoud Ali Kaykhaei, Zahra Heidari, Ahmad Mehrazin","doi":"10.1590/0004-2730000003287","DOIUrl":"https://doi.org/10.1590/0004-2730000003287","url":null,"abstract":"Thyroid hormone biosynthetic defects are rare causes of congenital hypothyroidism. Although, initial presentations are usually diffuse goiter and hypothyroidism, subsequently they may develop thyroid nodules and or thyroid cancer. We describe a case of hypothyroidism due to dyshormonogenesis whose one of the previously solid nodules degenerates into a large cyst. A 22-year-old male was referred to our clinic for evaluation of enlarging thyroid nodule. Hypothyroidism was diagnosed in infancy, however due to poor compliance to treatment TSH values were elevated most of the times. When he was fifteen the first nodule was detected which was a solid cold nodule. Fine needle aspiration was in favor of benign follicular nodule. Seven years later we found a large multi nodular thyroid with a predominant large cyst corresponding to the previously detected solid nodule. 21cc straw colored fluid was aspirated. Cytology was reported as benign cystic nodule. The patient underwent thyroidectomy and pathology confirmed a benign thyroid cyst. Although underreported thyroid dyshormonogenesis may progress to cystic degeneration. Taking into account the risk of malignancy and eventually cyst formation, we recommend more frequent evaluation in the face of nodule formation in these patients.","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000003287","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33337746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Bariatric surgery--an update for the endocrinologist. 减肥手术，内分泌学家的最新进展。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003413

Marcio C Mancini

{"title":"Bariatric surgery--an update for the endocrinologist.","authors":"Marcio C Mancini","doi":"10.1590/0004-2730000003413","DOIUrl":"https://doi.org/10.1590/0004-2730000003413","url":null,"abstract":"Obesity is a major public health problem, is associated with increased rates of mortality risk and of developing several comorbidities, and lessens life expectancy. Bariatric surgery is the most effective treatment for morbidly obese patients, reducing risk of developing new comorbidities, health care utilization and mortality. The establishment of centers of excellence with interdisciplinary staff in bariatric surgery has been reducing operative mortality in the course of time, improving surgical safety and quality. The endocrinologist is part of the interdisciplinary team. The aim of this review is to provide endocrinologists, physicians and health care providers crucial elements of good clinical practice in the management of morbidly obese bariatric surgical candidates. This information includes formal indications and contraindications for bariatric operations, description of usual bariatric and metabolic operations as well as endoscopic treatments, preoperative assessments including psychological, metabolic and cardiorespiratory evaluation and postoperative dietary staged meal progression and nutritional supplementation follow-up with micronutrient deficiencies monitoring, surgical complications, suspension of medications in type 2 diabetic patients, dumping syndrome and hypoglycemia.","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000003413","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33332414","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 27

Response to the letter: Angiotensin-II induced insulin resistance. 对信件的回应:血管紧张素ii诱导胰岛素抵抗。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003649

Marcos M Lima-Martínez, Gabriel López-Mendez, Rodolfo Odreman, José H Donis, Mariela Paoli

引用次数: 0

Thyroid nodules and thyroid cancer in Graves' disease. Graves病的甲状腺结节与甲状腺癌。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003569

Abbas Ali Tam, Cafer Kaya, Fevzi Balkan Mehmet Kılıç, Reyhan Ersoy, Bekir Çakır

{"title":"Thyroid nodules and thyroid cancer in Graves' disease.","authors":"Abbas Ali Tam, Cafer Kaya, Fevzi Balkan Mehmet Kılıç, Reyhan Ersoy, Bekir Çakır","doi":"10.1590/0004-2730000003569","DOIUrl":"https://doi.org/10.1590/0004-2730000003569","url":null,"abstract":"Objective: The frequency of thyroid nodules accompanying Graves' disease and the risk of thyroid cancer in presence of accompanying nodules are controversial. The aim of this study was to evaluate the frequency of thyroid nodules and the risk of thyroid cancer in patients operated because of graves' disease.Subjects and methods: Five hundred and twenty-six patients in whom thyroidectomy was performed because of Graves' disease between 2006 and 2013 were evaluated retrospectively. Patients who had received radioactive iodine treatment and external irradiation treatment in the neck region and who had had thyroid surgery previously were not included in the study.Results: While accompanying thyroid nodule was present in 177 (33.6%) of 526 Graves' patients, thyroid nodule was absent in 349 (66.4%) patients. Forty-two (8%) patients had thyroid cancer. The rate of thyroid cancer was 5.4% (n = 19) in the Graves' patients who had no nodule, whereas it was 13% (n = 23) in the patients who had nodule. The risk of thyroid cancer increased significantly in presence of nodule (p = 0.003). Three patients had recurrence. No patient had distant metastasis. No patient died during the follow-up period.Conclusions: Especially Graves' patients who have been decided to be followed up should be evaluated carefully during the follow-up in terms of thyroid cancer which may accompany.","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000003569","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33337742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 33

The TCF7L2 rs7903146 (C/T) polymorphism is associated with risk to type 2 diabetes mellitus in Southern-Brazil. TCF7L2 rs7903146 (C/T)多态性与巴西南部2型糖尿病的风险相关。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003510

Taís S Assmann, Guilherme C K Duarte, Jakeline Rheinheimer, Lavínia A Cruz, Luís H Canani, Daisy Crispim

{"title":"The TCF7L2 rs7903146 (C/T) polymorphism is associated with risk to type 2 diabetes mellitus in Southern-Brazil.","authors":"Taís S Assmann, Guilherme C K Duarte, Jakeline Rheinheimer, Lavínia A Cruz, Luís H Canani, Daisy Crispim","doi":"10.1590/0004-2730000003510","DOIUrl":"https://doi.org/10.1590/0004-2730000003510","url":null,"abstract":"Objective: The aim of this study was to investigate the association between the rs7903146 (C/T) polymorphism in the TCF7L2 gene and type 2 diabetes mellitus, in a Southern-Brazilian population.Materials and methods: The TCF7L2 rs7903146 polymorphism was genotyped in 953 type 2 diabetic patients and 535 non-diabetic subjects. All subjects were white. The polymorphism was genotyped by Real-Time PCR using TaqMan MGB probes (Life Technologies). Odds ratios (OR) and 95% confidence intervals (CI) were calculated for additive, recessive and dominant inheritance models.Results: Genotype and allele frequencies of the rs7903146 polymorphism differed significantly between type 2 diabetic patients and non-diabetic subjects (P = 0.001 and P = 0.0001, respectively). The frequency of the minor allele was 38% in type 2 diabetes group and 31% in non-diabetic subjects, and this allele was significantly associated with type 2 diabetes risk (OR = 1.42, 95% CI 1.15 - 1.76 for the dominant model of inheritance). Moreover, the T/T genotype was associated with a higher risk for type 2 diabetes (OR = 1.83, 95% CI 1.3-2.5) than the presence of only one copy of the T allele (OR = 1.31, 95% CI 1.1-1.6). Both results were adjusted for age and gender.Conclusions: Our results confirm the association between the TCF7L2 rs7903146 polymorphism and increase risk for type 2 diabetes in Southern-Brazil.","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000003510","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33337740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 34

An international survey of screening and management of hypothyroidism during pregnancy in Latin America. 拉丁美洲妊娠期间甲状腺功能减退症的筛查和管理的国际调查。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003382

Mateus Fernandes da Silva Medeiros, Taise Lima de Oliveira Cerqueira, Joaquim Custódio Silva Junior, Magali Teresopolis Reis Amaral, Bijay Vaidya, Kris Gustave Poppe, Gisah Amaral de Carvalho, Silvia Gutierrez, Graciela Alcaraz, Marcos Abalovich, Helton Estrela Ramos

{"title":"An international survey of screening and management of hypothyroidism during pregnancy in Latin America.","authors":"Mateus Fernandes da Silva Medeiros, Taise Lima de Oliveira Cerqueira, Joaquim Custódio Silva Junior, Magali Teresopolis Reis Amaral, Bijay Vaidya, Kris Gustave Poppe, Gisah Amaral de Carvalho, Silvia Gutierrez, Graciela Alcaraz, Marcos Abalovich, Helton Estrela Ramos","doi":"10.1590/0004-2730000003382","DOIUrl":"https://doi.org/10.1590/0004-2730000003382","url":null,"abstract":"Objective: To determine how endocrinologists in Latin America deal with clinical case scenarios related to hypothyroidism and pregnancy.Materials and methods: In January 2013, we sent an electronic questionnaire on current practice relating to management of hypothyroidism in pregnancy to 856 members of the Latin American Thyroid Society (LATS) who manage pregnant patients with thyroid disease. Subsequently, we have analyzed responses from physician members.Results: Two hundred and ninety-three responders represent clinicians from 13 countries. All were directly involved in the management of maternal hypothyroidism and 90.7% were endocrinologists. The recommendation of a starting dose of L-thyoxine for a woman diagnosed with overt hypothyroidism in pregnancy, preconception management of euthyroid women with known thyroid autoimmunity and approach related to ovarian hyperstimulation in women with thyroid peroxidase antibodies were widely variable. For women with known hypothyroidism, 34.6% of responders would increase L-thyroxine dose by 30-50% as soon as pregnancy is confirmed. With regard to screening, 42.7% of responders perform universal evaluation and 70% recommend TSH < 2.5 mUI/L in the first trimester and TSH < 3 mUI/L in the second and third trimester as target results in known hypothyroid pregnant women.Conclusion: Deficiencies in diagnosis and management of hypothyroidism during pregnancy were observed in our survey, highlighting the need for improvement of specialist education and quality of care offered to patients with thyroid disease during pregnancy in Latin America.","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000003382","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33332417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 11

A case of thyroid hormone resistance: a rare mutation. 一例甲状腺激素抵抗:罕见的突变。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003297

Ana Pires Gonçalves, José Maria Aragüés, Ema Nobre, Ana Paula Barbosa, Mario Mascarenhas

{"title":"A case of thyroid hormone resistance: a rare mutation.","authors":"Ana Pires Gonçalves, José Maria Aragüés, Ema Nobre, Ana Paula Barbosa, Mario Mascarenhas","doi":"10.1590/0004-2730000003297","DOIUrl":"https://doi.org/10.1590/0004-2730000003297","url":null,"abstract":"Reduced sensitivity to thyroid hormones (RSTH) is a rare disease that affects about 3,000 individuals, belonging to about 1,000 families. It results from reduced intracellular action of thyroid hormones (TH) genetically determined and manifests as persistent hyperthyroxinemia with non-suppressed thyroid-stimulating hormone (TSH). We describe a 67-years old, Caucasian woman, with past history of subtotal thyroidectomy due to diffuse goiter, who presents with a recurrence of goiter. Although she is clinically euthyroid, laboratory evaluation shows persistent hyperthyroxinemia with non-suppressed TSH. Response to thyrotropin releasing hormone (TRH) test was normal and TSH concentrations were not suppressed during oral administration of suprafisiologic doses of levothyroxine (L-T4). Peripheral blood DNA was extracted from the patient and a mutation was found localized in cluster one, at codon 346 of the ligand binding domain of the THRB gene. The patient's son underwent thyroid function testing (TFT) and genetic study, both negative, suggesting a sporadic mutation. RSTH should be considered in all hyperthyroxinemic patients who are clinically euthyroid. Mutations interfering with three major steps required for TH action on target tissues have been, so far, identified (TR-β, TR-α, MCT8, SPB2). Each mutation is associated with a distinctive syndrome. Goal of management is to maintain a normal serum TSH level and a eumetabolic state and offer appropriate genetic counselling and prenatal diagnosis. Inappropriate treatment of eumetabolic patients results in hypothyroidism and need for TH replacement. ","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1590/0004-2730000003297","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33007399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

Red cell distribution width in subclinical hypothyroidism. 亚临床甲状腺功能减退的红细胞分布宽度。

Arquivos brasileiros de endocrinologia e metabologia Pub Date : 2014-12-01 DOI: 10.1590/0004-2730000003452

Sevket Balta, Mustafa Aparci, Cengiz Ozturk, Sait Demirkol, Turgay Celik, Atila Iyisoy

{"title":"Red cell distribution width in subclinical hypothyroidism.","authors":"Sevket Balta, Mustafa Aparci, Cengiz Ozturk, Sait Demirkol, Turgay Celik, Atila Iyisoy","doi":"10.1590/0004-2730000003452","DOIUrl":"https://doi.org/10.1590/0004-2730000003452","url":null,"abstract":"e have read the article “The value of red blood cell distribution width (RDW) in subclinical hypothyroidism” by Hea Min Yu and cols. (1). They aimed to investigate the relationship between the subclinical hypothyroidism and RDW levels in a healthy population. They concluded that RDW levels were correlated with euthyroid and subclinical thyroid status. This study gives important information on this clinically relevant condition. Thanks to the authors for their contribution. We think that some points should be discussed. Some markers have been found to be associated with early and late complications in many conditions. Inﬂammatory cytokines, high-sensitivity C-reactive protein (CRP), natriuretic peptides, neurohormones have recently established to be useful markers for diagnosis and prognosis in many diseases. However, these markers are very expensive and are not easily used in clinical practice. Elevated RDW is a measure of the variabi-lity in size of circulating erythrocytes and is expressed as the coefﬁcient of variation of the erythrocyte volume. As several routine haematology instruments can analyse erythrocyte volume, RDW is available in most clinical settings. The ready availability of this parameter without additional cost may encourage its wider use in clinical pra-ctice. Several studies have reported that elevated RDW levels are associated with poor prognosis in the setting of atherosclerosis, heart failure, stroke, peripheral arterial dis -ease, older age (2). However, RDW may also reflect ethnicity, neurohumoral activa-tion, renal dysfunction, hepatic dysfunction, nutritional deficiencies (i.e. iron, vitamin B","PeriodicalId":8395,"journal":{"name":"Arquivos brasileiros de endocrinologia e metabologia","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33007403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0