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A relevância e a abordagem consistente dos temas reunidos no Guia Prático em Osteometabolismo asseguraram a publicação dessa nova edição. Preparada pelos membros do Departamento de Metabolismo Ósseo e Mineral da Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) e por seus colaboradores, oferece uma visão ainda mais detalhada sobre condições enfrentadas diariamente por clínicos e especialistas, como diabetes mellitus, osteoporose, hipertireoidismo e hipoparatireoidismo. Com isso, o guia mantém a sua condição como material de consulta e referência para profissionais da Endocrinologia e áreas relacionadas.

Thyrotropin stimulating hormone (TSH) suppression in patients with differentiated thyroid cancer (DTC) aims to decrease the growth and proliferation of thyroid cancer cells. However, the effect of TSH-suppressive therapy on bone microarchitecture remains undefined. Cross-sectional study including 43 women with DTC undergoing TSH-suppressive therapy (sTSH) compared to 20 women also on levothyroxine (LT4) therapy but with TSH in the low-normal range (nTSH) since the thyroid surgery. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA), and trabecular bone score (TBS) was evaluated using the TBS iNsigth software. Fracture risk assessed by FRAX, with and without TBS, was calculated. The relationship between suppressive therapy-related parameters and bone parameters was investigated. The TBS mean values were not significantly different in the sTSH and nTSH groups (1.273 ± 0.12 vs 1.307 ± 0.14, p = 0.7197). In both groups, postmenopausal women had degraded microarchitecture (TBS 1.216 ± 0.11 vs 1.213 ± 0.09, p = 0.9333), while premenopausal women had normal microarchitecture (1.328 ± 0.11 vs 1.401 ± 0.12, p = 0.195). The percentage of all postmenopausal women with degraded TBS was 54.7%, while the percentage of osteoporosis diagnoses was 16.1%. The TBS-adjusted FRAX-probability of fracture was similar in sTSH and nTSH groups. Body mass index (BMI) and menopausal status were the only variables associated with TBS and BMD. Trabecular microarchitecture assessed by TBS was similar between women on long-term suppressive therapy in DTC and those on LT4 replacement therapy aiming at a TSH level within the low-normal reference range. Low TBS values were observed in postmenopausal women of both groups, suggesting that not only suppressed TSH levels but also a low-normal TSH is associated with deteriorated bone microarchitecture in postmenopausal women following total thyroidectomy.

It is well known that BMD measured by DXA is a major determinant of bone strength and fracture risk, although most individuals with a fragility fracture will have a BMD in the osteopenic or even in the normal range. Skeletal and extraskeletal risk factors that contribute to overall fracture risk should be identified to better select patients for treatment. We report a case of a 51-year-old perimenopausal woman who sustained a typical osteoporotic fracture, despite not having osteoporosis by DXA. Her trabecular bone score (TBS), a gray-level texture measure derived from lumbar DXA images that provides an indirect index of bone architecture, was low. The patient’s 10-year probability of fracture by the Fracture Risk Assessment Tool (FRAX) was very high. The use of FRAX and TBS in clinical practice to identify patients that need pharmacological intervention and their role in monitoring antiosteoporotic therapy are reviewed.

Graves’ disease (GD) is the most common etiology of hyperthyroidism and may be associated with other autoimmune disorders. Case report: A.J.M.N., 27 years old, previously healthy, presented with abdominal discomfort, nausea and headache. She used paracetamol 750mg t.i.d for seven days. After that, she noticed jaundice and sought medical care. On admission, patient was icteric, oriented, afebrile, without signs of heart failure or alterations in the intestinal habit. Admission laboratory tests: AST 1287 U/L (RR 6.99 ng/dL (RR< 2.19). Serology for infectious diseases (A, B and C viral hepatitis; cytomegalovirus; Epstein-Bar Virus, syphilis; Dengue virus) were negative. Available antibodies for autoimmune hepatitis (anti-LKM1, anti-mitochondria, anti-smooth muscle, anti-SSB, anti-SSA, anti-Rnp / Sm, anti-DNA) were non-reactive. Ceruloplasmin and serum copper were normal. TRAB 3 IU/L (RR

Background Chronic hepatitis C (CHC) is associated with type 2 diabetes mellitus. Although the pathogenesis remains to be elucidated, a growing evidence has suggested a role of pro-inflammatory immune response. Increased serum concentrations of Interleukin 6 (IL-6) have been associated with insulin resistance, type 2 diabetes mellitus as well as advanced forms of liver disease in chronic hepatitis C infection. Aim To investigate the frequency of IL-6-174G/C (rs1800795) single nucleotide polymorphism (SNP) in CHC patients and in healthy subjects of the same ethnicity. Associations between type 2 diabetes mellitus (dependent variable) and demographic, clinical, nutritional, virological and, IL-6 genotyping data were also investigated in CHC patients. Methods Two hundred and forty-five patients with CHC and 179 healthy control subjects (blood donors) were prospectively included. Type 2 diabetes mellitus was diagnosed according to the criteria of the American Diabetes Association. Clinical, biochemical, histological and radiological methods were used for the diagnosis of the liver disease. IL-6 polymorphism was evaluated by Taqman SNP genotyping assay. The data were analysed by logistic regression models. Results Type 2 diabetes mellitus, blood hypertension and liver cirrhosis were observed in 20.8% (51/245), 40.0% (98/245) and 38.4% (94/245) of the patients, respectively. The frequency of the studied IL-6 SNP did not differ between the CHC patients and controls (P = 0.81) and all alleles were in Hardy-Weinberg equilibrium (P = 0.38). In the multivariate analysis, type 2 diabetes mellitus was inversely associated with GC and CC genotypes of IL-6-174 (OR = 0.42; 95%CI = 0.22-0.78; P = 0.006) and positively associated with blood hypertension (OR = 5.56; 95%CI = 2.79-11.09; P Conclusion This study was the first to show that GC and CC genotypes of IL-6-174 SNP are associated with a decreased risk of type 2 diabetes mellitus in patients chronically infected with hepatitis C virus. The identification of potential inflammatory mediators involved in the crosstalk between hepatitis C virus and the axis pancreas-liver remains important issues that deserve further investigations.

BACKGROUND/AIM Familial multiple endocrine neoplasia type 1 (MEN1) is a rare disorder mostly associated with germline MEN1 mutations. MATERIALS AND METHODS Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls. RESULTS A missense variant in AIP (p.Arg16His) gene and a truncating mutation (p.Gly111fs*8) in MEN1 gene were both detected in the proband and his father, showing limited co-segregation with phenotype. p.Arg16His AIP missense variant was detected in one control. CONCLUSION There are conflicting data regarding the functional effects of AIP p.Arg16His and its role in disease development. We demonstrated the co-occurrence of p.Arg16His AIP missense variant in a patient with a bona fide MEN1 mutation. Our finding of p.Arg16His AIP in one of the 95 controls and its co-occurrence with MEN1 in a patient suggests that it is more likely that this variant is a rare polymorphism, unrelated to MEN1 pathogenesis.

BACKGROUND Preserved skeletal muscle is essential for the maintenance of healthy bone. Loss of bone mineral density (BMD) and muscle strength, considered a predictor of BMD, have been demonstrated in patients with cirrhosis, but they are poorly studied in chronic hepatitis C (CHC) without cirrhosis. Thus, we aimed to evaluate the prevalence of low BMD and its association with body composition, muscle strength, and nutritional status in CHC. METHODS One hundred and four subjects [mean age, 50.5 ± 11.3 years; 75.0% males; 67.3% non-cirrhotic; and 32.7% with compensated cirrhosis] with CHC, prospectively, underwent scanning of the lean tissue, appendicular skeletal muscle mass (ASM), fat mass, lumbar spine, hip, femoral neck, and whole-body BMD by dual-energy X-ray absorptiometry. Muscle strength was assessed by dynamometry. Sarcopenia was defined by the presence of both low, ASM/height2 (ASMI) and low muscle strength according to the European Working Group on Sarcopenia in Older People criteria. The cut-off points for low ASMI and low muscle strength, for women and men, were 50 years, the T-score of osteopenia is between -1.0 and -2.49 standard deviation (SD) below the young average value and of osteoporosis is ≥-2.5 SD below the young normal mean for men, and the Z-score of low bone mass is ≤-2.0 SD below the expected range in men aged

Areal bone mineral density (aBMD) by DXA is underestimated in those with smaller bones and overestimated in those with larger bones. Trabecular bone score (TBS) predicts fracture risk, and is not influenced by bone size. The aim of this study was to evaluate TBS and BMD in women with short stature.We retrospectively analyzed DXA scans of all women aged 50-90 years with short stature (144 cm) obtained in a single center, from 2006 to 2016. The comparison group comprised women161 cm in height, matched for age and LS BMD, selected from the same database.The study population included 342 women. The two groups were similar in age, and aBMD at the LS and total hip. Femoral neck aBMD was lower in cases than in taller women. In contrast, TBS was higher in women with short stature than in their taller counterparts (1.347 ± 0.102 vs. 1.250 ± 0.110; p 0.001). Bone mineral apparent density (BMAD) and the LS TBS-adjusted BMD T-score were also significantly higher in shorter than in taller women. From the entire cohort, 121 women (67 cases) were osteoporotic by aBMD determinations. Among these subjects, TBS was also greater in cases (1.303 ± 0.103) than in women with standard height (1.190 ± 0.099; p 0.001). Despite being considered osteoporotic, 36% of short women, but none of the taller ones, had a normal TBS.TBS can be a useful adjunct to aBMD for assessing bone quality in short women, in whom aBMD measurement tends to read lower, and, thus could overestimate fracture risk.

Introduction: Thyrotropin stimulating hormone (TSH) suppression in patients with differentiated thyroid cancer (DTC) aims to decrease the growth and proliferation of thyroid cancer cells. However, the effect of TSH suppressive therapy on bone microarchitecture remains undefined. Methods: Cross-sectional study including 43 women with DTC undergoing TSH suppressive therapy (sTSH) compared to 20 women also on levothyroxine therapy but with TSH in the low-normal range (nTSH) since the thyroid surgery. Bone mineral density (BMD) was measured by dual-energy X-ray absorptiometry (DXA), and trabecular bone score (TBS) was evaluated using the TBS iNsigth software. The relationship between suppressive therapy-related parameters and bone parameters was investigated. Results: The TBS mean values were not significantly different in the sTSH and nTSH groups (1.273 ± 0.12 vs 1.307 ± 0.14, p = 0.7197). In both groups, postmenopausal women had degraded microarchitecture (TBS 1.216 ± 0.11 vs 1.213 ± 0.09, p = 0.9333), while premenopausal women had normal microarchitecture (1.328 ± 0.11 vs 1.401 ± 0.12, p = 0.195). The percentage of all postmenopausal women with degraded TBS was 54.7%, while the percentage of osteoporosis diagnoses was 16.1%. Body mass index (BMI) and menopausal status were the only variables associated with TBS and BMD. Conclusion: Long-term TSH suppressive therapy does not seem to be associated with deterioration of the trabecular microarchitecture in premenopausal women. However, lower TBS values were observed in postmenopausal women of both groups, even in those with nonsuppressive therapy. These data show that treatment with thyroid hormone in DTC can be detrimental to bone quality in postmenopausal women, regardless of whether TSH levels are maintained chronically suppressed or in the low-normal range.

Objective Because cirrhotic patients are at high risk of malnutrition and sarcopenia, we evaluated the prevalence of low fat-free mass index (FFMI) and low phase angle (PhA) among patients with chronic hepatitis C (CHC). Methods In total, 135 subjects with CHC (50.4% males; mean age, 52.4 ± 11.8 years; 65.9% noncirrhotic and 34.1% compensated cirrhotic patients) were prospectively included and evaluated by bioelectrical impedance analysis. Subjective global assessment was used to evaluate malnutrition. Results Low FFMI and low PhA were identified in 21.5% and 23.7% of the patients, respectively. Compensated cirrhotic patients had lower PhA values than those without cirrhosis. Low FFMI was associated with male sex (odds ratio [OR], 2.74; 95% confidence interval [CI], 1.00-7.01; P = .04) and malnutrition (OR, 4.27; 95% CI, 1.42-12.90; P = .01). Low PhA was associated with cirrhosis (OR, 3.92; 95% CI, 1.56-9.86; P = .004), malnutrition (OR, 5.52; 95% CI, 1.73-17.62; P = .004), and current alcohol use (OR, 2.77; 95% CI, 1.01-7.58; P = .05). Reactance (Xc) normalized for height (H), an indicator of muscle strength, was independently associated with male sex, age, hypertension, and serum albumin. Conclusion Host factors, including clinical comorbidities, lifestyle, and nutrition status, are associated with low FFMI and low PhA in noncirrhotic and in compensated cirrhotic patients with CHC. These findings highlight the relevance of evaluating body composition in patients chronically infected by hepatitis C virus independently of the stage of liver disease.

Familial multiple endocrine neoplasia type 1 (MEN1) is a rare disorder mostly associated with germline MEN1 mutations.Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls.A missense variant in AIP (p.Arg16His) gene and a truncating mutation (p.Gly111fs*8) in MEN1 gene were both detected in the proband and his father, showing limited co-segregation with phenotype. p.Arg16His AIP missense variant was detected in one control.There are conflicting data regarding the functional effects of AIP p.Arg16His and its role in disease development. We demonstrated the co-occurrence of p.Arg16His AIP missense variant in a patient with a bona fide MEN1 mutation. Our finding of p.Arg16His AIP in one of the 95 controls and its co-occurrence with MEN1 in a patient suggests that it is more likely that this variant is a rare polymorphism, unrelated to MEN1 pathogenesis.

Summary Objective: To critically analyze articles on the relation between neck circumference (NC) in adolescents and: body mass index, fat distribution, metabolic syndrome and its individual components, and cardiovascular risk. Method: Systematic review undertaken by two independent researchers using the Pubmed/Medline, Lilacs/Medline, Scielo and Cochrane databases in English, Spanish and Portuguese in the period comprising the past 5 years. Results: Eighteen (18) articles were selected. The articles show an association between NC in adolescents and body fat (BMI), central fat distribution (WC), metabolic syndrome and several of its individual components, and cardiovascular risk. Some values are proposed for NC cutoff points as a diagnostic tool for nutritional status, high blood pressure and pre-hypertension, cardiovascular risk, insulin resistance and metabolic syndrome. We identified a percentile curve constructed for Brazilian adolescents. Conclusion: There is a shortage of studies with representative samples, variety at the NC measurement sites, and the age of the participants, which makes it difficult to establish definitive landmarks. Resumo Objetivo: Analisar criticamente artigos referentes à relação entre a circunferência do pescoço (CP) de adolescentes e: índice de massa corporal, distribuição de gordura, síndrome metabólica e seus componentes individuais e risco cardiovascular. Método: Revisão sistemática realizada por dois pesquisadores independentes nas bases de dados Pubmed/Medline, Lilacs/Medline, Scielo e Cochrane nos idiomas inglês, espanhol e português nos últimos 5 anos. Resultados: Foram selecionados 18 artigos. Os artigos demonstram a associação entre CP de adolescentes e gordura corporal (IMC), distribuição central gordura (CC), síndrome metabólica e vários de seus componentes individuais, e risco cardiovascular. Existem propostas de pontos de corte da CP para o diagnóstico do estado nutricional, hipertensão e pré-hipertensão, risco cardiovascular, resistência insulínica e síndrome metabólica. Foi identificada ainda uma curva de percentis construída para adolescentes brasileiros. Conclusão: Há escassez de estudos com amostras representativas, variedade nos locais de medição da CP e na idade dos participantes, o que dificulta estabelecimento de referências definitivas.

The effect of an exercise program on the body composition, muscular strength (MS), biochemical markers, and bone mineral density (BMD) of individuals undergoing gastric bypass is unclear. We assessed lean mass (LM), MS, bone remodeling markers, and BMD before and after supervised weight-bearing and aerobic exercise training in obese patients who underwent Roux-en-Y gastric bypass (RYGB).This study included 37 obese patients (81.1% women, mean age 38.2 years, mean body mass index 42.4 ± 0.5 kg/mAfter 1 year, the TG showed a lower decrease in total BMD and at the lumbar spine and right hip compared with the CG (p 0.001). The TG had lower mass reduction and an increase in upper limb LM compared with the CG (both p 0.05). There was no significant difference between groups in bone markers or calcium metabolism. MS was higher in the TG than the CG (p 0.05).The supervised exercise program attenuated lumbar spine and right hip BMD loss and improved LM in the arms and overall MS but did not affect bone remodeling.

Osteoporotic fractures impose severe physical, psychosocial, and financial burden both to the patient and the society. Studies on the prevalence of osteoporosis and fragility fractures in Brazil show a wide variation, due to differences in sample size, the population studied, and methodologies. Few studies have been conducted in Brazil about the cost-effectiveness analyses of different intervention options aimed at the diagnosis and treatment of osteoporosis. Investigation and treatment strategies based on cost-effectiveness and scientific evidence are essential in the preparation of public health policies with the ultimate goal of reducing the incidence of fractures and, consequently, the direct and indirect costs associated with them. This article reviews the Brazilian burden of osteoporosis in terms of the prevalence and fractures attributable to the disease, the costs related to the investigation and management, as well as the impact of osteoporosis on the population as a whole and on affected individuals. Fraturas osteoporóticas impõem graves entraves físicos, psicossociais e financeiros, tanto para o paciente quanto para a sociedade. Estudos sobre a prevalência de osteoporose e fraturas por fragilidade no Brasil mostram uma grande variação, em decorrência das diferenças no tamanho das amostras, da população estudada e da metodologia empregada. Poucos estudos têm sido realizados no Brasil sobre a análise de custo-efetividade das diferentes opções de intervenção que visam ao diagnóstico e ao tratamento da osteoporose. Estratégias de investigação e de tratamento com base na relação custo-eficácia e evidências científicas são essenciais para a elaboração de políticas de saúde pública, com o objetivo final de reduzir a incidência de fraturas e, consequentemente, os custos diretos e indiretos associados a elas. Este artigo faz uma revisão sobre o ônus da osteoporose no Brasil em termos de prevalência e fraturas atribuíveis à doença, de custos relacionados com a investigação, tratamento da osteoporose, bem como seu impacto na população como um todo e em indivíduos afetados.

Objective: The present clinical study aims to describe protocol to evaluate the effects of vitamin D3 supplementation on the cardiovascular risk factors in a population of rotating shift workers. Design: A randomized, double-blind, placebo-controlled, parallel group clinical trial testing 2 oral dosages of cholecalciferol (14,000 IU and 28,000 IU per week) for 12 months. Setting: The primary outcome for evaluation is an 18% reduction in hypertriglyceridemia (≥150mg/dL) between pre and postintervention measurements. Baseline characteristics of the study population will be summarized separately within each randomized group, and will use tests for continuous and categorical variables. For all tests, a P

BACKGROUND: Obesity is considered a chronic low-grade inflammatory disease that shares mediators of inflammation with psoriasis, such as TNF-α and IL-6. The relationship between these two conditions involves factors such as predisposition and response to therapy, in addition to an association with cardiovascular disease. OBJECTIVES: The aim of the present study was to investigate the prevalence of adiposity as determined by body mass index (BMI), waist circumference (WC), and dual energy X-ray absorptiometry (DXA) evaluation in patients with psoriasis. METHODS: BMI, WC and body composition by DXA were measured in 42 psoriatic patients without joint complaints and in 41 control patients using standard procedures. In the comparison between cases and controls, we used Pearson’s Χ2 test or Fisher’s exact test, and the nonparametric Mann-Whitney test. The difference between the diverse classification methods for obesity was evaluated using McNemar’s test. To test the level of agreement between those variables, we used the weighted kappa coefficient. RESULTS: There was no difference in the prevalence of obesity among cases and controls. Both BMI and WC had low agreement with measures of body fat evaluated by DXA. With the use of DXA scanning, prevalence of overweight and obesity in patients with psoriasis was 83.3%, which constitutes a strong evidence of the need for intervention on this metabolic parameter. CONCLUSION: Dual energy X-ray absorptiometry was more capable of identifying obesity compared with BMI and WC both in psoriatic and control patients.

INTRODUÇÃO: Pesquisa de corpo inteiro após dose terapêutica de (131I) NaI (PCI) associada à tireoglobulina (Tg) sérica, anticorpo antitireoglobulina (anti-Tg) e ultrassom (US) cervical representam os métodos de referência para detecção de carcinoma diferenciado de tireoide (CDT) residual ou metastático. Algumas causas de PCI falsos-positivas, como processos inflamatórios, alguns tumores não tireoidianos e até mesmo cistos renais e sebáceos, são bem conhecidas. MÉTODOS: Neste trabalho, descreveu-se um caso de cisto hepático benigno simulando metástase de carcinoma de tireoide em PCI após dose terapêutica de (131I) NaI. RESULTADOS: Ressalta-se a importância do reconhecimento dos cistos hepáticos benignos como fator complicador do seguimento dos pacientes com câncer de tireoide. CONCLUSÕES: Para minimizar erros de diagnóstico e, consequentemente, na condução dos casos de CDT, é necessário conhecer as possíveis causas de PCI falsos-negativas e positivas. INTRODUCTION: The follow-up of differentiated thyroid carcinoma (DTC) for detecting persistent or recurrent disease is based on iodine whole body scan (WBS), the evaluation of the tumor marker thyroglobulin (Tg), the anti-thyroglobulin antibody (anti-Tg) and neck ultrasonography (US). Well known false-positive causes of WBS include inflammatory processes, some non-thyroid tumors, kidney or even sebaceous cysts . METHODS: We reported a case of false-positive WBS, after therapeutic dose of (131I) NaI. RESULTS: We enphasize the importance of recognizing benign liver cysts mimicking DTC metastasis. CONCLUSIONS: False-positive and negative results may occur with WBS and must be recognized to avoid mismanagement.

RNA splicing is an essential, precisely regulated process that occurs after gene transcription and before mRNA translation, in which introns may be removed and exons, retained. Variability in splicing patterns is a major source of protein diversity from the genome and function to generate a tremendously diverse proteome from a relatively small number of genes. Changes in splice site choice can determine different effects on the encoded protein. Small changes in peptide sequence can alter ligand binding, enzymatic activity, allosteric regulation, or protein localization. Errors in splicing regulation have been implicated in a number of different disease states. This study reviewed the mechanisms of splicing and their repercussion in endocrinology, emphasizing its importance in some thyroid physiological and pathological conditions. Após a transcrição genética e antes da tradução do mRNA, ocorre o splicing do RNA, que consiste em um processo essencial, precisamente regulado, por meio do qual podem ocorrer excisões de íntrons e retenções de éxons. A variabilidade dos padrões de splicing é a principal fonte de diversidade de proteínas geradas por um pequeno número de genes. Alterações na escolha do sítio de splicing podem determinar efeitos diferentes nas proteínas codificadas. Pequenas alterações na sequência peptídica podem alterar o seu sítio de ligação de substratos, sua atividade enzimática, a regulação alostérica ou a localização proteica. Erros na regulação do splicing têm sido implicados em grande número de doenças. Nessa revisão, foram descritos os mecanismos de splicing enfatizando sua importância em algumas condições fisiológicas e patológicas envolvendo a tireoide.

ObjectiveACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have been found in segregation with triple A syndrome. We describe the clinical findings and molecular analysis ofMC2R,MRAP, andAAASgenes in five Brazilian patients with ACTH resistance syndrome.Design and methodsGenomic DNA from patients and their unaffected relatives was extracted from peripheral blood leucocytes and amplified by PCR, followed by automated sequencing. Functional analysis was carried out using Y6 cells expressing wild-type and mutant MC2R.ResultsAll five patients showed low cortisol and elevated plasma ACTH levels. One patient had achalasia and alacrima, besides the symptoms of adrenal insufficiency. The molecular analysis of FGD patients revealed a novel p.Gly116Val mutation in theMC2Rgene in one patient and p.Met1Ile mutation in theMRAPgene in another patient. Expression of p.Gly116Val MC2R mutant in Y6 cells revealed that this variant failed to stimulate cAMP production. The analysis of theAAASgene in the patient with triple A syndrome showed a novel g.782_783delTG deletion. The molecular analysis of DNA from other two patients showed no mutation inMC2R,MRAP, orAAASgene.ConclusionsIn conclusion, the molecular basis of ACTH resistance syndrome is heterogeneous, segregating with genes coding for proteins involved with ACTH receptor signaling/expression or adrenal gland development and other unknown genes.

A deficiência de vitamina D (VD) leva ao raquitismo e à osteomalacia e sua insuficiência, caracterizada pelo hiperparatireoidismo secundário, pode resultar osteoporose. Apesar de amplamente prevalente, a insuficiência de VD ainda é pouco reconhecida e subtratada. Os autores estudaram 180 pacientes atendidos em ambulatório de endocrinologia em Belo Horizonte, que tiveram os níveis de 25(OH)VD mensurados, correlacionando-os com paratormônio (PTH), marcadores de remodelação óssea e densidade mineral óssea. Para caracterização de níveis insuficientes de VD, foram correlacionados os níveis de 25(OH)VD com os de PTH, definindo-se, nesta série, ponto de corte de 25(OH)VD de 32 ng/ml. Foi encontrada correlação inversa e significativa entre 25(OH)VD e PTH e entre 25(OH)VD e C-telopeptídeo. A prevalência de insuficiência de VD na população estudada foi de 42,4%. Conclui-se que a insuficiência de VD tem alta prevalência entre pacientes que freqüentam nossos consultórios, alertando para a importância da sua investigação na prática clínica e na instituição de políticas para sua prevenção.

To identify factors associated with changes in oral glucose tolerance test (OGTT), regardless of fasting glucose (FG).377 patients (53.8 ± 15.2 years, 77.7% women and BMI = 31.4 ± 5.9 kg/m²) with no history of diabetes mellitus(DM), underwent OGTT and compared according to the results: normal (NGT), impaired (IGT) and DM.202 patients (53.6%) had altered glucose tolerance: 69 with DM (18.3%) and 133 with IGT (35.3%). In multivariate analysis, factors regardless of FG that were associated (P0.05) with changes in the OGTT were age (DM = 58.7 ± 12.9; IGT = 56.7 ± 14.3; NGT = 49.6 ± 15.6 years), hypertension (DM = 69.6%; IGT = 63.9%; NGT = 43.4%), FG (DM = 111.9 ± 9.2; IGT = 103.5 ± 10.3; NGT = 96.6 ± 11.1 mg/dL), HbA1C (DM = 6.1 ± 0.7%; IGT = 6.1 ± 0.5%; NGT = 5.8 ± 0.4%), triglycerides (DM = 179.3 ± 169.9; IGT = 154.2 ± 84.1; NGT = 129.1 ± 71.9 mg/dL), HDL-c (DM =44.7 ± 9.2; IGT = 47.5 ± 12.3; NGT = 50.6 ± 13.4 mg/dL) and uric acid in women (DM = 5.3 ± 1.5; IGT = 5.3 ± 1.3; NGT = 4.7 ± 1.3 mg/dL).Age, hypertension, elevated triglycerides, HbA1C, uric acid (in women) and low HDL-C are associated with changes in the OGTT patients with overweight / obesity, irrespective of FG.

The follow-up of differentiated thyroid carcinoma (DTC) for detecting persistent or recurrent disease is based on iodine whole body scan (WBS), the evaluation of the tumor marker thyroglobulin (Tg), the anti-thyroglobulin antibody (anti-Tg) and neck ultrasonography (US). Well known false-positive causes of WBS include inflammatory processes, some non-thyroid tumors, kidney or even sebaceous cysts .We reported a case of false-positive WBS, after therapeutic dose of (131I) NaI.We enphasize the importance of recognizing benign liver cysts mimicking DTC metastasis.False-positive and negative results may occur with WBS and must be recognized to avoid mismanagement.

A deficiência de vitamina D (VD) leva ao raquitismo e à osteomalacia e sua insuficiência, caracterizada pelo hiperparatireoidismo secundário, pode resultar osteoporose. Apesar de amplamente prevalente, a insuficiência de VD ainda é pouco reconhecida e subtratada. Os autores estudaram 180 pacientes atendidos em ambulatório de endocrinologia em Belo Horizonte, que tiveram os níveis de 25(OH)VD mensurados, correlacionando-os com paratormônio (PTH), marcadores de remodelação óssea e densidade mineral óssea. Para caracterização de níveis insuficientes de VD, foram correlacionados os níveis de 25(OH)VD com os de PTH, definindo-se, nesta série, ponto de corte de 25(OH)VD de 32 ng/ml. Foi encontrada correlação inversa e significativa entre 25(OH)VD e PTH e entre 25(OH)VD e C-telopeptídeo. A prevalência de insuficiência de VD na população estudada foi de 42,4%. Conclui-se que a insuficiência de VD tem alta prevalência entre pacientes que freqüentam nossos consultórios, alertando para a importância da sua investigação na prática clínica e na instituição de políticas para sua prevenção. Consequences of VD deficiency include rickets and osteomalacia. However, marginal concentrations of 25-hydroxyvitamin D (25(OH)VD) are associated with secondary hyperparathyroidism and osteoporosis. In this context, levels of 25(OH)VD capable to elevate parathyroid hormone (PTH) could be considered as insufficient. The VD insufficiency, although widely prevalent, is still under-recognized and under-treated. The authors have studied 180 patients followed in a endocrinology clinic in Belo Horizonte, who had 25(OH)VD measured, correlating it with PTH, biochemical bone turnover markers and bone mineral density. To determine the sufficiency of VD, 25(OH)VD was correlated with PTH and the cutoff found was of 32ng/ml. CTX-1 and PTH were significantly negative correlated to 25(OH)VD and the prevalence of VD insufficiency was 42%. One concludes that the VD insufficiency is widely prevalent among patients who frequently come to our offices, alerting us for the importance to assess VD status more often and to practice politics for prevention of VD insufficiency.

Consequences of VD deficiency include rickets and osteomalacia. However, marginal concentrations of 25-hydroxyvitamin D (25(OH)VD) are associated with secondary hyperparathyroidism and osteoporosis. In this context, levels of 25(OH)VD capable to elevate parathyroid hormone (PTH) could be considered as insufficient. The VD insufficiency, although widely prevalent, is still under-recognized and under-treated. The authors have studied 180 patients followed in a endocrinology clinic in Belo Horizonte, who had 25(OH)VD measured, correlating it with PTH, biochemical bone turnover markers and bone mineral density. To determine the sufficiency of VD, 25(OH)VD was correlated with PTH and the cutoff found was of 32ng/ml. CTX-1 and PTH were significantly negative correlated to 25(OH)VD and the prevalence of VD insufficiency was 42%. One concludes that the VD insufficiency is widely prevalent among patients who frequently come to our offices, alerting us for the importance to assess VD status more often and to practice politics for prevention of VD insufficiency.

O estudo da haste hipofisária através da ressonância magnética (RM) tem possibilitado a identificação de certas alterações de imagem que se correlacionam clinicamente com diversos distúrbios endócrinos. O conhecimento da embriologia e da anatomia da região hipotálamo-hipofisária, assim como a definição dos critérios de normalidade à RM são fundamentais para uma melhor compreensão e caracterização das alterações da haste hipofisária. O espessamento (ou alargamento) é comumente associado ao diabetes insipidus (DI) e o seu achado requer, principalmente em crianças e adolescentes, a pesquisa de uma causa etiológica de base. O afilamento, a interrupção abrupta e a ausência da haste hipofisária estão associados à deficiência congênita de GH, denotando tais achados quadros clínicos por vezes distintos. Por fim, mutações em diferentes fatores de transcrição envolvidos na organogênese hipofisária estão associadas a alterações na RM, tornando-a uma importante ferramenta na investigação do hipopituitarismo de causa genética. Magnetic resonance imaging (MRI) of the pituitary stalk has revealed certain abnormalities with significant clinical relevance. In order to correctly appreciate them, one must be aware of the embryology and anatomy of the pituitary-hypothalamic axis and the criteria that define a normal MRI. Pituitary stalk thickening is frequently related to Diabetes Insipidus and this finding requires further evaluation, especially in children and adolescents. A truncated, thin or absent stalk can be associated with growth hormone deficiency and contribute to the prediction of the severity and the pattern of the hypopituitarism. At last, mutations of different transcription factors controlling pituitary development may be associated with characteristic pituitary-hypothalamic MRI abnormalities, underscoring its utility in the assessment of congenital hypopituitarism.