Gonçalves AP, Aragüés JM, Nobre E
… +2 more, Barbosa AP, Mascarenhas M
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627054
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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...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.
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627053
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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 thyro...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.
Garcia J, França Ld, Ellinger V
… +1 more, Wolff M
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627052
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Atypical presentation forms of hyperthyroidism are always a challenge to the clinician. We present a female patient with the typical symptoms of thyrotoxicosis, without any thionamides treatment before, associated with p...Atypical presentation forms of hyperthyroidism are always a challenge to the clinician. We present a female patient with the typical symptoms of thyrotoxicosis, without any thionamides treatment before, associated with pancytopenia, which recovered after euthyroidism state was achieved. Although the major cases of pancytopenia in Grave's disease are seen as a complication of antithyroid drugs (thioamides), in this case report the alteration in blood tests was associated with untreated hyperthyroidism. In the literature review, we found 19 case reports between 1981 to 2012, but it has been related to a hypercellular bone marrow with periferic destruction. Our case, however, is about a hypocellular bone marrow without fibrosis or fat tissue replacement, which proceeded with a periferic improvement following thyroid treatment. Although rare, pancytopenia, when present, may develop as an unusual and severe manifestation in untreated subjects.
Ferreira MC, Tozatti J, Fachin SM
… +3 more, Oliveira PP, Santos RF, Silva ME
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627051
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OBJECTIVES: The aim of the present study was to evaluate the functional mobility and its relationship to cognitive ability in patients with type 2 diabetes (T2DM), age between 50 and 65 years and under 10 years of diagno...OBJECTIVES: The aim of the present study was to evaluate the functional mobility and its relationship to cognitive ability in patients with type 2 diabetes (T2DM), age between 50 and 65 years and under 10 years of diagnosis. MATERIALS AND METHODS: An observational, analytical and cross-sectional study, involving no diabetic and type 2 diabetic individuals with inadequate glycemic control, selected by convenience sampling. In both groups, were administered structured questionnaire and cognitive assessment with Mini-Mental State Examination (MMSE) and the clock drawing test (CDT), besides assessment of functional mobility by the Timed Up & Go (TUG). RESULTS: In TUG, DM2 patients presented a mean time of 11.27 seconds versus 9.52 seconds (p = 0.013). The association between cognitive decline and decrease of mobility was positive in individuals with T2DM (p = 0.037). In the subgroup that showed decrease of mobility and associated cognitive decline, 18% were patients with DM2 and 1.6% were individuals without T2DM (p < 0.01). CONCLUSIONS: Patients with T2DM presented worse functional mobility and cognitive performance, supporting the hypothesis that DM2 influence functional mobility and cognitive ability, regardless of neuropathic or vascular complications. These data suggest that hyperglycemia is an aggravating factor in the performance of activities requiring mental functions such as attention, working memory and orientation.
Arpaci D, Ozdemir D, Cuhaci N
… +5 more, Dirikoc A, Kilicyazgan A, Guler G, Ersoy R, Cakir B
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627050
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OBJECTIVE: Microcalcification is strongly correlated with papillary thyroid cancer. It is not clear whether macrocalcification is associated with malignancy. In this study, we aimed to assess the result of fine needle as...OBJECTIVE: Microcalcification is strongly correlated with papillary thyroid cancer. It is not clear whether macrocalcification is associated with malignancy. In this study, we aimed to assess the result of fine needle aspiration biopsies (FNAB) of thyroid nodules with macrocalcifications. SUBJECTS AND METHODS: We retrospectively evaluated 269 patients (907 nodules). Macrocalcifications were classified as eggshell and parenchymal macrocalcification. FNAB results were divided into four groups: benign, malignant, suspicious for malignancy, and non-diagnostic. RESULTS: There were 79.9% female and 20.1% male and mean age was 56.9 years. Macrocalcification was detected in 46.3% nodules and 53.7% nodules had no macrocalcification. Parenchymal and eggshell macrocalcification were observed in 40.5% and 5.8% nodules, respectively. Cytologically, malignant and suspicious for malignancy rates were higher in nodules with macrocalcification compared to nodules without macrocalcification (p = 0.004 and p = 0.003, respectively). Benign and non-diagnostic cytology results were similar in two groups (p > 0.05). Nodules with eggshell calcification had higher rate of suspicious for malignancy and nodules with parenchymal macrocalcification had higher rates of malignant and suspicious for malignancy compared to those without macrocalcification (p = 0.01, p = 0.003 and p = 0.007, respectively). CONCLUSIONS: Our findings suggest that macrocalcifications are not always benign and are not associated with increased nondiagnostic FNAB results. Macrocalcification, particularly the parenchymal type should be taken into consideration.
Tam AA, Kaya C, Kılıç FB
… +2 more, Ersoy R, Çakır B
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627049
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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 thyroi...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.
Shinkov A, Borissova AM, Kovatcheva R
… +3 more, Atanassova I, Vlahov J, Dakovska L
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627048
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OBJECTIVE: The aim of the study was to assess the prevalence and characteristics of metabolic syndrome (MetS) and its elements in relation to TSH in euthyroid subjects. MATERIALS AND METHODS: In the cross-sectional study...OBJECTIVE: The aim of the study was to assess the prevalence and characteristics of metabolic syndrome (MetS) and its elements in relation to TSH in euthyroid subjects. MATERIALS AND METHODS: In the cross-sectional study, 2,153 euthyroid adults, 47.2 ± 14.5 years (20-94) with no current antithyroid or thyroid replacement therapy were enrolled. All participants filled a questionnaire on past and current morbidities, medication and smoking. Body weight, height, waist circumference, serum TSH, glucose and lipids were measured. The subjects were stratified by quartiles of TSH (QTSH) and the prevalence of the MetS elements was calculated. MetS was determined by the IDF 2005 criteria. RESULTS: Overweight prevalence was 37.2% (35.2-39.2), obesity in 25.1% (23.3-26.9), abdominal obesity - 61.4% (59.3-63.5), hypertension - 42.1% (38.9-43.1), diabetes/increased fasting glucose - 13.6% (12.1-15), low HDL-cholesterol - 27.6% (25.7-29.5), hypertriglyceridemia - 24.1% (22.3-25.9), MetS - 32.2% (30.2-34.2). MetS was more prevalent in the highest QTSH (34.9%, 30.9-38.9) than the lowest (27%, 23.3-30.9), p < 0.001, as were low HDL-C (32%, 28-35.9 vs. 25%, 21.3-28.7, p < 0.001) and hypertriglyceridemia (26.8%, 23-30.5 vs. 20.4%, 17-23.8, p = 0.015). Each QTSH increased the risk of MetS by 14%, p < 0.001, of hypertriglyceridemia by 20%, p = 0.001 and of low LDL-C by 9%, p = 0.042. Other significant factors for MetS were age, male gender and obesity. CONCLUSION: The prevalence of MetS increased with higher QTSH within the euthyroid range, mostly by an increase in the dyslipidemia.
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627047
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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...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.
Perez CL, Fighera TM, Miasaki F
… +4 more, Mesa Junior CO, Paz Filho GJ, Graf H, Carvalho GA
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627046
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OBJECTIVE: The objective of this study was to evaluate the efficacy and safety of percutaneous ethanol injection (PEI) in the treatment of benign thyroid nodules. SUBJECTS AND METHODS: We evaluated 120 patients with beni...OBJECTIVE: The objective of this study was to evaluate the efficacy and safety of percutaneous ethanol injection (PEI) in the treatment of benign thyroid nodules. SUBJECTS AND METHODS: We evaluated 120 patients with benign thyroid nodules. Patients underwent evaluation of serum TSH and free T4, cervical ultrasound, and thyroid scintigraphy (in those with suppressed TSH levels). The application of sterile ethanol 99% was guided by ultrasound, with the injected volume amounting to one-third of the nodule volume. Response was considered complete (reduction of 90%); partial (reduction between 50 and 90%); or none (reduction of < 50%). Autonomous nodules were evaluated for normalization of TSH levels. RESULTS: Among the nodules studied, 30.8% were solid, 56.7% were mixed, 12.5% were cystic, and 21.6% were hyperfunctioning. The initial volume of the treated nodules ranged from 0.9 to 74.8 mL (mean 13.1 ± 12.4 mL). We performed 1-8 sessions of PEI, applying an average of 6.2 mL of ethanol for patient. After 2 years of follow-up, 17% of patients achieved a complete response (94% reduction); 53%, a partial response (70% reduction); and 30%, no response. A reduction in the volume of autonomous nodules was noted in 70% of cases, and 54% had a normalized value of TSH. The main side effect is local pain, lasting less than 24 hours in most cases. CONCLUSION: This study showed that PEI is a safe and effective procedure for treatment of benign, solid or mixed thyroid nodules. Most cases resulted in significant reduction in nodule volume, with normalization of thyroid function.
Medeiros MF, Cerqueira TL, Silva Junior JC
… +9 more, Amaral MT, Vaidya B, Poppe KG, Carvalho GA, Gutierrez S, Alcaraz G, Abalovich M, Ramos HE, Latin American Thyroid Society
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627045
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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 curr...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.
Baggenstoss R, Petzhold SV, Willemann IK
… +5 more, Pabis FS, Gimenes P, Souza BV, França PH, Silva JC
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627044
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OBJECTIVE: To assess the association of the G54D (rs1800450) polymorphism of the gene MBL2 in the gestational diabetes mellitus with the need for additional treatment and the occurrence of large newborns for the gestatio...OBJECTIVE: To assess the association of the G54D (rs1800450) polymorphism of the gene MBL2 in the gestational diabetes mellitus with the need for additional treatment and the occurrence of large newborns for the gestational age. SUBJECTS AND METHODS: One hundred and five patients recruited in Joinville--Brazil were evaluated between November 2010 and October 2012. Pregnant women were divided in two groups correspondents to the presence (n = 37) or absence (n = 68) of the mutant allele. The variants of the polymorphism G54D were identified by restriction fragment lengths polymorphisms (RFLP). Anthropometric and biochemical parameters of the mother and the newborn, and the necessity of additional therapy associated with diet were assessed as the primary outcomes. RESULTS: Thirty-five point two percent of the evaluated patients carried at least one mutated allele of G54D polymorphism. There were no significant differences in weight gain, parity, age, body mass index and gestational age of arrival at maternity between the two groups. The groups of patients with or without the mutated allele did not differ in the need for additional treatment associated with diet (16.2% vs. 26.7%) respectively and with the occurrence of large newborns for gestational age (24.3% vs. 13.2%). CONCLUSION: Our data showed that the polymorphism G54D of the gene MBL2 had no effect in the need for additional treatment associated with the diet-based therapy and in the occurrence of large newborns for gestational age in the studied population.
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627043
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Brown adipose tissue, an essential organ for thermoregulation in small and hibernating mammals due to its mitochondrial uncoupling capacity, was until recently considered to be present in humans only in newborns. The ide...Brown adipose tissue, an essential organ for thermoregulation in small and hibernating mammals due to its mitochondrial uncoupling capacity, was until recently considered to be present in humans only in newborns. The identification of brown adipose tissue in adult humans since the development and use of positron emission tomography marked with 18-fluorodeoxyglucose (PET-FDG) has raised a series of doubts and questions about its real importance in our metabolism. In this review, we will discuss what we have learnt since its identification in humans as well as both new and old concepts, some of which have been marginalized for decades, such as diet-induced thermogenesis.
Arq Bras Endocrinol Metabol
· 2014 Dec · PMID 25627042
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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 m...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.