Showing papers in "Arquivos Brasileiros De Endocrinologia E Metabologia in 2001"

Obesidade em idosos: prevalência, distribuição e associação com hábitos e co-morbidades

Abstract: Objective: The goal was to define the prevalence of global and central obesity through the body mass index (BMI) and the waist-to-hip ratio (WHR). Besides, the associations between BMI and WHR were evaluated as the risk factors related to the excess of body fat and to the central pattern of distribution of fat, such as diabetes mellitus (DM), hypertension, hypercholesterolaemia, low levels of high density lipoprotein cholesterol (HDL-c), hypertriglyceridaemia, smoking, practice of physical activities, and social level. Methodology: Through a cross-sectional study, 847 outpatients 60 years old or more were evaluated. Results: Obesity was detected in 9.3% of the men and 23.8% of the women (p = percentile 75 (WHR> 1.01 for men and WHR> 0.96 for women) presented higher frequencies of hypertension, DM, low HDL-c, and hypertriglyceridaemia in the male and hypertension and DM in the female. Conclusions: The results reveal differences in relation to sex, with men presenting lower prevalence of obesity and higher associations between BMI or WHR, with risk factors related to the body fat. The data obtained contribute to the amplification of the anthropometric reference of the elderly, besides identifying the characteristics of the correlations between the anthropometric indicators and the metabolic alterations associated with obesity.

Pé diabético: avaliação da evolução e custo hospitalar de pacientes internados no conjunto hospitalar de Sorocaba

Abstract: O pe diabetico e uma das principais complicacoes do diabetes mellitus (DM), sendo causa frequente de internacoes hospitalares. Os custos destas internacoes e o onus social constituem um grave problema de saude. Com o objetivo de avaliar diabeticos portadores de lesoes podais internados, estudamos 23 pacientes (14M, 9F; 39-80 anos de idade), no periodo de abril a novembro de 1999. Todos tinham DM tipo 2 e 48% deles foram internados com glicemia <200mg/dL. As lesoes estavam assim distribuidas (segundo classificacao de Wagner): grau 1: 26%; grau 2: 17%; grau 3: 13%; grau 4: 35%; grau 5: 9%. Evoluiram para amputacao 65% dos pacientes, sendo 30% de coxa. O tempo mediano de internacao foi de 14 dias. O custo mediano das internacoes foi de R$1.004,59 e em 24% delas foi superior a R$2.000,00. Somado ao custo medio de proteses (R$1.900,00), totaliza-se um onus proximo a R$3.000,00. Na amostra, 9 pacientes estavam na faixa etaria economicamente ativa. Os pacientes portadores de lesoes nos pes sao responsaveis por internacoes prolongadas e de custo elevado, o que nao e compativel com o sistema publico de saude do nosso pais. Assim, a prevencao e um dos pontos fundamentais para melhorar o prognostico desta patologia.

Obstáculos diagnósticos e desafios terapêuticos no paciente obeso

Abstract: Obesidade e uma doenca complexa, de mutiplas etiologias e suficientemente comum para constituir um problema de saude publica, assim como um dilema clinico importante. Especialistas da area clinica e cirurgica sao frequentemente desafiados pelas alteracoes fisiopatologicas associadas com a obesidade. Essas alteracoes comprometem virtualmente todos os sistemas do organismo, podendo apresentar-se como barreiras no diagnostico e na terapeutica. Ha evidencias marcantes de que obesidade acarreta risco excessivo para a saude; de fato, a mortalidade aumenta de forma aguda quando o indice de massa corporal ultrapassa 30 kg/m2, principalmente quando ha distribuicao central de tecido adiposo concomitante. O autor discute os efeitos da obesidade nos sistemas respitatorio, cardiovascular, digestorio e geniturinario. Os obstaculos enfrentados em procedimentos diagnosticos ordinarios, prescricao de medicamentos, traumas, assim como descricoes patologicas raras de lipomas, sao apresentados.

Alterações hormonais da mulher atleta

Abstract: The purpose of this review is to focus the exercise as a modulator of human reproduction and to summarize and integrate current data concerning the hypothalamus-pituitary-gonadal axis in exercising women. The prevalence of menstrual dysfunctions, as the luteal phase deficiency, oligomenorrhea, amenorrhea and menarcheal delay are greater among athletes than in the general population. Many factors undergo changes during the course of an athletic training program and any or all of these may contribute to disturbances in menstrual cyclicity. A number of risk factors have been identified as predisposing women to the development of menstrual irregularities, such as low body weight, body fat and hypoestrogenic status. Hypoestrogenism may affect peak bone mass in the puberty and lead to irreversible premature bone loss. This paper reviews the physiologic effects of fitness training on various endocrine systems and provides clinical information about specific endocrine disturbances in athlete women.

Secreção da insulina: efeito autócrino da insulina e modulação por ácidos graxos

Abstract: Insulin plays a central role in the regulation of glucose homeostasis and acts in a coordinated fashion on cellular events that regulate the metabolic and growth processes. The insulin receptor b-subunit, which contains an intrinsic tyrosine kinase activity, undergoes tyrosyl autophosphorylation and is activated in response to insulin binding to the extracellular a-subunit. Subsequent steps in insulin signal transduction are mediated via the phosphorylation of specific intracellular proteins, including insulin receptor substrate-1 (IRS-1). In peptide motifs with the sequence Tyr-Met-x-Met (YMXM) or Tyr-x-x-Met (YXXM), tyrosine phosphorylated IRS-1 serves as a docking protein that interacts with signaling proteins containing SH2 or SH3 domains, such as the phosphatidylinositol 3-kinase (PI 3-kinase), thereby transmitting the signal downstream. The pancreatic B cell insulin receptor seems to mediate positive feedback for insulin secretion. Alterations in the molecular mechanisms of insulin signaling provide a potential link between insulin resistance and their impaired release, observed in non-insulin-dependent diabetes mellitus. Insulin resistance is also associated with elevated levels of free fatty acids (FFA) in the blood that may act directly on the exocytotic machinery to secrete insulin. The present review also describes the possible fatty acids and insulin signaling interactions on insulin exocytosis in pancreatic islets.

A controvérsia dos agentes ergogênicos: estamos subestimando os efeitos naturais da atividade física?

Abstract: A controversia dos agentes ergogenicos: estamos subestimando os efeitos naturais da atividade fisica?

Evolução materno-fetal de gestantes diabéticas seguidas no HC-FMRP-USP no período de 1992-1999

Abstract: The objective of the present study was to evaluate the frequency of maternal and fetal complications, type of delivery and metabolic control of diabetic pregnant women followed at HCFMRP-USP, between 1992 and 1999. Outcome data were obtained on 261 patients where 44 (16.3%) had type 1 (DM1), 82 (30.5%) had type 2 (DM2) and 143 (53.2%) had gestational diabetes mellitus (GDM). The occurrence of obesity prior to gestation was elevated in patients with GDM (47.6%) and DM2 (65.9%). Hypertension was also frequent in the latter group (46.3%). In spite of the late beginning of the prenatal care in all three groups, there was metabolic control improvement, observed through reduction of glycemias (DM1: 10h: 197±40 vs. 128±39mg/dl, p= 0.003; DM2: 7h: 147±53 vs. 102±19mg/dl, p= 0.001; 14h: 164±53 vs. 121±28mg/dl, p= 0.01; 20h: 201±55 vs. 147±43mg/dl, p= 0.01; DMG: 7h: 100±34 vs. 89±20mg/dl, p= 0.003; 10h: 144±49 vs. 122±29mg/dl, p= 0.03; 14h: 126±38 vs. 112±27mg/dl, p= 0.001), and HbA1 levels (DM1: 11.1±2.9 vs. 5.7±1.8%, p= 0.02). Hypoglycemia, urinary tract infections, vulvovaginites, hypertension and pre-eclampsia/ eclampsia were the most incident maternal complications. Hypoglycemia (29.5%, p< 0.0001), urinary tract infections (29.5%, p= 0.02), and abortions (11.4%, p= 0.003) were significantly more common in DM1 patients (11.4%) than in other groups. No maternal death was observed. Cesarea section was the mode of delivery predominantly used in all groups. Hypoglycemia, prematurity, jaundice and macrossomia were the most incident fetal complications. Prematurity (53.7%, p< 0.0001), natimortality (14.6%, p< 0.0001), and respiratory distress syndrome (13.9%, p= 0.003) were more frequent in newborns of DM1 patients. Although some degree of metabolic control improvement has been observed in all groups, a complete normalization of glucose and glycated hemoglobin levels has not been achieved, and probably contributed for the maternal and fetal complications rates observed.

Osteoporose pós-menopausa: opções terapêuticas

Abstract: O autor realizou uma revisao na literatura sobre o tratamento atual da osteoporose pos-menopausa, abordando os principais trabalhos voltados para as drogas que efetivamente elevam a BMD e reduzem a frequencia de novas fraturas. Os estrogenos, os moduladores seletivos dos receptores de estrogenos (SERMs), os bisfosfonatos e a calcitonina foram analisados, assim como a utilizacao do calcio e da vitamina D. Conclui com uma proposta de algoritmo pratico de tratamento da osteoporose na pos-menopausa imediata e tardia, baseado na avaliacao previa dos resultados da densitometria ossea e dos marcadores bioquimicos osseos.

Influência da menopausa no índice de massa corporal

Abstract: The influence of menopause in the Body Mass Index (BMI), among women aged 20-59, in Rio de Janeiro (municipality) has been investigated, based on data from the survey Nutrition and Health, carried out in 1996. It is a cross-sectional household study with information on health and nutrition, about a population of 1,506 women. The risk of overweight (IMC >25kg/m2) associated to menopause, in a logistic regression model adjusted for age, physical activity and smoking was 1.66 with a 95% confidence interval of 1.14-2.41. The results showed that education and income were associated with overweight only among women without menopause, and that the effect of smoking was greater among women in menopause. The study also displayed an association between menopause and overweight, which cannot be explained by age, physical activity or smoking. A maximum effect for women who presented overweight before menopause could explain these findings, but only longitudinal studies will make it possible to clarify this hypothesis.

Foliculogênese e esteroidogênese ovarianas em ratas adultas hipertireóideas

Abstract: A foliculogenese e a esteroidogenese ovarianas foram estudadas em ratas adultas hipertireoideas. O hipertireoidismo foi induzido em 27 ratas Wistar com cinco meses de idade pela administracao diaria de 50µg de L-tiroxina. Outras 27 ratas foram mantidas em estado eutireoideo e serviram como controle. Aos 30, 60 e 90 dias apos o inicio do tratamento, nove ratas de cada grupo foram sacrificadas, os ovarios inspecionados, pesados e processados para avaliacao histomorfometrica e o plasma sanguineo colhido para dosagem de T4-livre, estradiol e progesterona. As concentracoes plasmaticas de T4-livre foram significativamente maiores nas ratas hipertireoideas aos 30, 60 e 90 dias, e o peso medio dos ovarios foi significativamente maior somente aos 90 dias. Ja o numero de foliculos secundarios e terciarios e de corpos luteos foi significativamente maior aos 60 ou aos 90 dias, mas a taxa percentual de atresia folicular so foi diferente aos 90 dias. O numero de foliculos primarios e pre-ovulatorios, assim como as concentracoes plasmaticas de estradiol e progesterona, nao diferiram entre grupos e entre periodos. Concluiu-se que o hipertireoidismo estimula a foliculogenese ovariana em ratas sexualmente maduras e diminui a atresia folicular.

Andropausa: insuficiência androgênica parcial do homem idoso. Uma revisão

Abstract: Andropausa e uma designacao inapropriada para o quadro clinico resultante do declinio progressivo da producao androgenica encontrado em pelo menos 20% dos homens com idade entre 60 e 70 anos, e que algumas vezes se inicia a partir dos 50 anos. Uma designacao mais adequada e insuficiencia androgenica parcial do homem idoso. Como a producao de testosterona diminui regularmente, em homens de 75 anos os niveis medios de testosterona sao somente 65% daqueles dos adultos jovens, sendo que pelo menos 25% destes idosos apresentam niveis subnormais de testosterona biodisponivel. A etiologia deste declinio da testosterona dependente da idade e multifatorial e envolve alteracoes testiculares primarias, disfuncao da regulacao neuroendocrina das gonadotropinas, elevacao das concentracoes sericas de globulina ligadora de hormonios sexuais e reducao da sensibilidade dos receptores androgenicos. A senescencia e acompanhada de uma serie de sinais e sintomas, muitos deles bastante semelhantes aos observados em hipogonadicos jovens. Este quadro clinico complexo pode se dever aos efeitos conjuntos do proprio processo de senescencia e de doencas intercorrentes. No entanto, existem evidencias que o declinio dos niveis de testosterona proprio da idade e, pelo menos em parte, codeterminante deste quadro clinico, visto que a reposicao androgenica tem mostrado efeitos favoraveis em mais de 30% destes idosos sintomaticos. No momento, esta reposicao hormonal deveria somente ser considerada em presenca de niveis sericos de testosterona abaixo dos limites normais minimos para adultos jovens, acompanhada de sinais inequivocos de insuficiencia androgenica, na ausencia de outras causas reversiveis de hipoandrogenismo e apos a exclusao de contra-indicacoes.

Uma amostra de pacientes com diabetes tipo 1 no sul do Brasil

Abstract: Objectives: To describe a type 1 diabetes mellitus (DM1) population with regard to demographic, socioeconomic, environmental and management aspects. Design: Series of cases. Participants: 126 DM1 patients, aged up to 30 yrs, with no more than 10 yrs of diagnosis, living in some cities of South Brazil. Results: The patients were 57 men and 69 women, being the age of onset mainly at 11-15 yrs (31%). There were seasonal presentations at diagnosis. The diagnosis of DM was done as outpatients, by symptoms in 61%, due to hospitalization in 22% and ketoacidosis in 18%. Forty-seven percent of the sample injected insulin once daily, 60% of patients performed some self monitoring, one third reused the same syringe six or more times and 50% of insulin was provided by public services. Regarding awareness of hypoglycaemia, 18% of the patients did not know any signal of alert. A significant part of the sample was seen by a specialist in DM (73%). Among the patients with five years or more of DM, 16% of them have never had their eyes examined and 17% had been examined at least two years ago. The onset of DM, assistance by a specialist and provision of insulin was associated with familiar income. Women were on diet more often (p= 0,05) and had more self-injection of insulin (p= 0,01) than men. Conclusions: In this study, socio-economic factors seem to influence the onset of DM, provision of insulin and assistance by a specialist doctor in DM. In general, patients did not have background and skills for self-management of DM.

Genética molecular do eixo GH-IGF1

Abstract: O hormonio de crescimento (GH, growth hormone), o fator de crescimento insulina simile-1 (IGF1, insulin-like growth factor-1) e uma enorme variedade de moleculas afins formam um eixo regulador do crescimento pre e pos-natal. Os permanentes avancos nas tecnicas de biologia molecular tem facilitado a identificacao de defeitos geneticos nos diferentes componentes do eixo GH-IGF1 em criancas com baixa estatura. Por outro lado, a aplicacao de novos metodos de dosagens hormonais tem revelado a existencia de formas inativas de GH ou quantidades aumentadas de formas com menor atividade biologica, cuja presenca na circulacao poderia justificar o retardo de crescimento em certas criancas com baixa estatura. Clinicamente, os defeitos geneticos no eixo GH-IGF1 podem se manifestar tanto em sindromes de deficiencia como de resistencia hormonal, enfatizando a importância de se avaliar nao apenas a secrecao de GH numa crianca com baixa estatura, mas tambem marcadores perifericos de uma possivel resistencia tecidual ao hormonio. Neste artigo, os principais defeitos geneticos descritos ate o presente momento no eixo GH/IGF1 sao revisados, com enfoque sobre as repercussoes clinicas destes defeitos e a importância da avaliacao genetica no diagnostico diferencial da baixa estatura idiopatica e da baixa estatura familiar. Na parte final, alguns breves comentarios sao feitos sobre defeitos geneticos encontrados em dois importantes fatores de transcricao da hipofise, que provocam um quadro clinico de deficiencia combinada de hormonios pituitarios, incluindo a deficiencia de GH.

Estudo Morfométrico do Fígado de Ratos Submetidos a Doses Supra-Fisiológicas de Tiroxina

Abstract: Thyrotoxicosis is a hypermetabolic state caused by elevated levels of free T3 and T4 in the blood, acting in nearly all body tissues. In this study, livers of rats treated with supraphysiologic doses of T4 (20µg/100g of body weight) for 20 days, and that had significantly increased serum T4 (p=0.02), were analyzed by stereologic methods. The treated rats lost body weight, while the control group did not (p=0.10), and their liver weight increased (p=0.08). The non-lobular parenchyma proportion was decreased in the T4-treated rats; thus, lobular parenchyma was significantly increased (p=0.05). The Kupffer cell volumetric fraction in the lobular parenchyma was significantly lower (p=0.05) than in controls. There was a significant hepatic glycogen depletion in the lobular parenchyma, as compared with the control group (p=0.008). In conclusion, thyrotoxicosis induces hyperplasia and/or hypertrophy of the hepatic cells, with reduction of the energy reserve.

Tratamento do hipertireoidismo da Doença de Graves

Abstract: A Doenca de Graves constitui a forma mais comum de hipertireoidismo e tres abordagens terapeuticas sao atualmente utilizadas: drogas antitireoidianas (DAT), cirurgia e iodo radioativo (131I). As DAT continuam como tratamento de primeira escolha em pacientes com doenca leve, bocios pequenos, criancas e adolescentes, e em situacoes especiais como na gravidez. Por outro lado, o 131I tem sido cada vez mais utilizado, porque e considerado um tratamento seguro, definitivo e de facil aplicacao. O risco de exacerbacao do hipertireoidismo apos administracao do 131I, os fatores prognosticos de falencia e o calculo da dose administrada tem sido alguns dos aspectos discutidos na literatura recentemente, e sao particulamente comentados nesta revisao. O tratamento cirurgico constitui quase um tratamento de excecao, com indicacao para os casos em que as terapias anteriores nao possam ser utilizadas.

Associação da cor da pele com diabetes mellitus tipo 2 e intolerância à glicose em mulheres obesas de Salvador, Bahia

Abstract: Outside Brazil the prevalence of type 2 diabetes mellitus (DM) is higher in blacks than in whites. Women from the obesity outpatient clinic of Professor Edgard Santos University Hospital, Salvador - BA, were studied, to assess whether dark skin color have higher prevalence of type 2 DM and impaired glucose tolerance (IGT), diagnosis based on the World Health Organization criteria, independently of age and body mass index (BMI). Skin color was classified as light (n= 166), medium (n= 186) and dark (n= 128). Plasma glucose level was determined by the glucose oxidase method. Oral glucose tolerance test was performed in all patients, except for 14 that were known to have DM. Patients with light, medium and dark skin color were similar regarding age, BMI and waist/hip ratio. The prevalence of DM, however, was significantly higher (p< 0.05) in women with dark (13.3%) as compared with light skin (7.2%). The prevalence of IGT was also higher, although statistically not significant (p= 0.088), in patients with dark (18.8%) than with light (12.7%) skin. The odds of receiving the diagnosis DM or IGT was 1.9 times higher in women with dark than with light skin [odds ratio (OR)= 1.9, 95% confidence interval (CI)= 1.1-3.2, p< 0.05]. This association was not importantly altered (OR= 1.7, 95% CI= 1.0-2.9) and remained marginally significant (p= 0.069), even after the logistic regression adjustment for age and BMI. In this study, obese women with dark skin color had higher association with DM and IGT, independently of age and BMI.

Estatura Final de Pacientes com Diabetes Mellitus do Tipo 1

Abstract: Com o objetivo de conhecer a estatura final de individuos com diabetes mellitus do tipo 1 (DM1) e possiveis fatores intervenientes sobre o crescimento foram avaliados 72 pacientes, diagnosticados na infância ou inicio da adolescencia. O grupo foi acompanhado no Servico de Endocrinologia do HC/UFMG. A idade media (±DP) era 21,2±3,2 anos e o tempo de doenca 11,9±5,7 anos. A estatura final foi 159,5±8,1cm (escore z= -1,23±1,05), sendo 156,7±6,0cm para o sexo feminino (n= 53) e 167,5±8,2cm para o sexo masculino (n= 19). O escore z foi -1,16±0,99 para o sexo feminino e -1,42±1,25 para o masculino. A estatura final dos pacientes comparada a curva de referencia do NCHS mostrou que 88,9% deles se apresentavam, anormalmente, com estatura abaixo da media. Houve, tambem, reducao de 0,5 escore z na estatura final (-1,08±1,23) em relacao a estatura do ano de diagnostico (-0,53±0,77), num subgrupo de 23 pacientes (p= 0,01). Em outro subgrupo (n= 22), 15 apresentavam mau controle metabolico com hemoglobina glicosilada de 13,1±1,0% e sete, controle satisfatorio, com hemoglobina glicosilada de 10±0,8%. Houve comprometimento da estatura final desse primeiro grupo (mau controle) em relacao ao segundo (escore z= -1,83±0,78 vs. -0,83±1,07; p= 0,02). Concluimos que nossos resultados sao compativeis com prejuizo na estatura final dos pacientes diabeticos avaliados em relacao a populacao geral e parecem estar, tambem, relacionados ao controle metabolico ruim.

Genitália ambígua: diagnóstico diferencial e conduta

Abstract: As ambiguidades genitais tem-se constituido em uma verdadeira emergencia pediatrica e a adequada avaliacao de cada caso pode evitar que o paciente seja criado num sexo inadequado, com interferencia importante na sua saude bio-psico-social. Os autores fazem uma abordagem da fisiopatologia da determinacao gonadal, bem como dos mecanismos envolvidos na diferenciacao sexual e fornecem elementos para o diagnostico diferencial e conduta terapeutica.

Associação entre traços de personalidade e sintomas depressivos em mulheres com síndrome do climatério

Abstract: The climateric is known as a period of the woman’s life cycle full of emotional shifts and psychopathology. The aim of this study was to investigate the relationship between a hypochondriac personality pattern and the occurrence of climateric syndrome depressive symptoms. One hundred and eighteen (118) women seeking medical care for climateric symptoms were evaluated; 43 post-menopausal women (45-55 years) with somatic and psychological symptoms of the climateric syndrome were selected. Somatic symptoms were evaluated by the menopausal index (MI). Psychiatric symptoms were evaluated by the Hamilton depression scale (HAM-D) and the Minnesota multiphasic personality inventory (MMPI). The patients were divided into two groups according to the severity of the depressive symptoms. Patients with HAM-D scores ³ 15 were assigned to group I and those with HAM-D scores < 15 were allocated to group II. Comparing MMPI evaluation of the two groups we found no significant statistical difference of "neurotic triad" personality traits characteristic of hypochondriacal behavior. Thus, the occurrence of depressive symptoms in the climateric syndrome in this population could not be associated with the presence of hypochondriacal traits.

Genética molecular do hipotireoidismo congênito

Abstract: Congenital hypothyroidism (CH) occurs in 1/3000-4000 neonates worldwide and may be classified as permanent or transient. Primary CH accounts for the majority of affected children, while secondary and tertiary CH are rare. In iodine-sufficient countries, thyroid dysgenesis (TD) is the most frequent cause of CH. Hereditary inborn errors of thyroid hormonogenesis account for about 10-20% CH children. Environmental, genetic and autoimmune factors have been implicated in the etiology of CH, but in the majority of cases the cause of TD remains to be clarified. Candidates for playing a pathogenetic role in TD are genes involved in thyroid gland ontogeny, such as those of thyroid transcription factors TITF1, TITF2, PAX-8 and the TSH-receptor (TSHR). No abnormality in the TITF1 gene has yet been found in CH, while mutations in the PAX-8 gene were identified in at least 5 neonates with TD. Loss of function mutations of the TSHR gene, although not involved in TD, may produce a spectrum of congenital defects ranging from euthyroid hyperthyrotropinemia to overt hypothyroidism with a hypoplastic gland. The cloning of genes implicated in the biosynthesis of thyroid hormones, such as those of thyroperoxidase (TPO) and thyroglobulin (Tg), has led to the identification of mutations responsible for some cases of goitrous hypothyroidism due to iodide organification defect or abnormalities in Tg synthesis. Recently, the molecular basis of the iodide transport defect and Pendred’s syndrome were reported, due to mutations, respectively, on the NIS and PDS genes. In conclusion, we still do not have elucidated the molecular basis of TD, the most common of the defects affecting neonates with CH.

Intercorrências clínicas na síndrome de Turner

Abstract: A retrospective study was held on data of 60 patients with Turner's Syndrome (TS), aiming to report the most prevalent diseases in this syndrome. Diagnosis was confirmed by kariotype from the prenatal period to the age of 49 years. At the time of the study the age of the patients ranged from 1 to 50 years, and they were observed during 4 months to 29 years. Thirty-one patients presented 45XO kariotype, 24 were mosaic and 5 were 46Xi, (i,Xq). All presented with low stature and some stigmas. Five (8.3%) did not present other diseases and are currently healthy. In 55 (91.6%) the following associate diseases were observed: 23 (38.3%) had endocrine, 16 (26.6%) ear, throat and nose, 15 (25%) cardiologic, 14 (23.3%) renal and 6 (10%) gastrointestinal diseases. The most common endocrine diseases were hypothyroidism (36.6%), osteoporosis (18.3%) and hyperlipidemia (11.6%). The most frequent ear, nose and throat diseases were infections (media otitis and tonsillitis). Congenital diseases of the aorta valve (bicuspid aorta valve) and double collecting systems with renal rotation were the most prevalent cardiac and renal diseases, respectively. Two patients had a diagnosis of Meckel's diverticulum. Although congenital diseases were more common in 45XO patients, no statistical significant difference was found concerning the prevalence of the diseases on other karyotypes. We conclude that special support must be given to patients with TS, with periodical assistance by multiple specialists.

Síndrome de Cushing associada à hiperplasia macronodular das adrenais: apresentação de um caso e revisão da literatura

Abstract: O objetivo dessa apresentacao e discutir a Sindrome de Cushing secundaria hiperplasia macronodular primaria das adrenais. Inicialmente, sera apresentado um caso clinico e, em seguida, serao discutidos a apresentacao clinica, laboratorial, radiologica e histologica, e os possiveis mecanismos patogeneticos envolvidos no desenvolvimento dessa patologia.

Importância da dosagem da 17OH-progesterona na síndrome dos ovários policísticos

Abstract: A dosagem da 17-hidroxiprogesterona (17OHP) e usada para screening de hiperplasia congenita de adrenal (HCSR) por defeito da 21-hidroxilase e, nesta situacao, se encontra muito aumentada. Pode estar alterada em mulheres com sindrome de ovarios policisticos (SOP), porem a frequencia e a magnitude desta alteracao foram pouco descritas. Analisamos retrospectivamente queixas, indice de massa corporea (IMC), dosagens na fase folicular precoce de LH, FSH, testosterona livre, 17OHP, sulfato de deidroepiandrosterona (SDHEA) e volume ovariano ao ultra-som de 83 mulheres no menacme com SOP, antes de iniciar tratamento. HCSR foi excluida pela prova de ACTH nas que apresentaram valores basais de 17OHP maiores que 200ng/dL. A 17OHP esteve acima do valor de referencia em 67,5% dos casos comparada a 38,6% para o LH; 10,8% para testosterona livre e 4,9% para SDHEA. A relacao LH/FSH esteve maior que 1 em 50,6% das mulheres. O volume de pelo menos um dos ovarios esteve aumentado em 53,5% das pacientes. O aumento medio da 17OHP foi de 30% acima do limite superior da normalidade (mediana 18%). Correlacionou-se inversamente com os valores de FSH e houve uma tendencia de relacao direta com os niveis de SDHEA. Das dosagens analisadas, a 17OHP foi a mais frequentemente aumentada, sugerindo que alem de funcionar como screening para HCSR, aumentos discretos desse hormonio possam apoiar o diagnostico de SOP dentro de um quadro clinico compativel

Hiperaldosteronismo primário revisitado

Abstract: Esta apresentacao tem o objetivo de discutir o tema "hiperaldosteronismo primario" (HAP). Inicialmente, serao apresentados os dados clinicos, laboratoriais, radiologicos e o resultado do estudo anatomo-patologico do tumor de uma paciente portadora de "aldosteronoma", seguindo-se uma discussao centrada em tres pontos principais: 1) a investigacao de HAP em pacientes com hipertensao arterial; 2) o diagnostico etiologico do HAP; e 3) o tratamento das varias formas de apresentacao do HAP.

Sangramento uterino disfuncional

Abstract: Based on a long clinical experience, the author makes a critical analysis of the terminology and concept of irregular uterine bleeding. He highlights the frequent academic confusion concerning the terms dysfunctional uterine bleeding and abnormal uterine bleeding, which raises questions on the diagnosis and treatment of these pathologies. The author tries to rationalize and to simplify the clinical investigation emphasizing the common procedures available in any office. For such aim, we should answer two basic questions: Is the bleeding originated from an organic or endocrine cause? If endocrine, is it ovulatory or anovulatory? By the same token, the treatment is limited to two or three simple and efficient schemes that work also as a differential diagnostic tool. If a rational hormonal scheme, based on the knowledge of the physiopathology of the process, doesn’t stop the bleeding, it certainly is not from an endocrine cause. This fact will force us to improve our investigation to identify the specific organic cause.

Receptores acoplados à proteína G: implicações para a fisiologia e doenças endócrinas

Abstract: A maioria dos hormonios polipeptidicos e mesmo o calcio extracelular atuam em suas celulas-alvo atraves de receptores acoplados a proteina G (GPCRs). Nos ultimos anos, tem sido frequente a identificacao e associacao causal de mutacoes em proteinas G e em GPCRs com diversas endocrinopatias, como diabetes insipidus nefrogenico, hipotiroidismo familiar, puberdade precoce familiar no sexo masculino e nodulos tiroidianos hiperfuncionantes. Nesta revisao, abordamos aspectos referentes ao mecanismo de transducao do sinal acoplado a proteina G, e descrevemos como mutacoes em GPCRs podem levar a algumas doencas endocrinas. Finalmente, comentamos a respeito das implicacoes diagnosticas e terapeuticas associadas com o maior conhecimento dos GPCRs.

Macroprolactina e incidentaloma hipofisário

Abstract: O objetivo dessa apresentacao e discutir as dificuldades na avaliacao de valores elevados de prolactina (PRL) e as razoes pelas quais uma interpretacao erronea do resultado desse hormonio pode confundir o diagnostico de pacientes com imagem selar sugestiva ou conclusiva de processo expansivo. Adicionalmente, serao discutidas as condutas que devem ser adotadas nos casos de incidentaloma hipofisario.

Puberdade precoce: dilemas no diagnóstico e tratamento

Abstract: Novos criterios para o diagnostico e tratamento da puberdade precoce (PP) central (GnRH-dependente) tem sido propostos. Frente a uma menina com desenvolvimento sexual precoce o medico deve considerar: 1) O que e o desenvolvimento puberal normal e quando ele se inicia? O inicio puberal em meninas normais aparentemente tem ocorrido cada vez mais cedo. A idade limite para o desenvolvimento puberal normal e de 9 anos nos meninos e 8 anos nas meninas. Entre 6 e 8 anos, muitas meninas apresentam sinais puberais isolados, associados apenas a discreto avanco da velocidade de crescimento (VC) e da idade ossea (IO). O quadro representa uma aceleracao constitucional do crescimento e puberdade e nao necessita tratamento. A puberdade precoce GnRH-dependente patologica cursa com progressao dos caracteres puberais, aumento significante da VC e avanco desproporcional da IO, determinando reducao da estatura final prevista. 2) Quais os valores normais de LH e FSH? Com o advento de novas tecnicas os valores do normal devem ser cuidadosamente interpretados. 3) Por que devemos tratar a PP? Devido a perda estatural e comprometimento psicossocial. 4) Todas as criancas com PP necessitam tratamento? Quem deve ser tratado? Apenas as criancas com PP que apresentam avanco significante da IO e da VC com previsao de perda da estatura final e resposta puberal do LH. A etiologia do processo e investigada com a RM de crânio. Deve ser tratada com agonistas hiperativos do GnRH. Pode-se utilizar leuprolide ou triptorelina, na dose de 3,75mg IM, uma vez a cada 4 semanas. Habitualmente, obtem-se bom controle dos caracteres puberais. 5) Quais sao os resultados do tratamento? Os resultados sobre a estatura final dependem do diagnostico e tratamento precoces, preferencialmente antes dos 6 anos, e praticamente nao existem efeitos colaterais importantes. 6) Quando associar o GH? Durante o tratamento com GnRHa, parte dos pacientes apresenta grande reducao da VC e intenso comprometimento da previsao estatural. Nesta situacao, a associacao com GH pode ser considerada.

Tratamento do hipertireoidismo na infância e adolescência

Abstract: Graves’ disease (GD) is responsible for more than 90% of all cases of hyperthyroidism in children. Hyperthyroidism in GD is due to stimulating antibodies directed to TSH receptors, known as TRAb (Thyrotropin Receptor Antibody), that mimic the effects of TSH. Infrequent causes of hyperthyroidism include activating mutations of genes related to TSH receptors and G protein a subunit and inadequate secretion of TSH seen in pituitary TSH secreting tumors and thyroid hormone resistance syndrome (THRS) while thyrotoxicosis is seen in Hashimoto’s and subacute thyroiditis. Initial treatment of GD is done with antithyroid drugs (ATD) while definitive treatment is accomplished with either ATD, radioactive iodine (131I) or subtotal thyroidectomy. None of these alternatives is totally safe, effective and able to afford a permanent euthyroid state. b-blockers can be used in all forms of hyperthyroidism to attenuate sympathetic signs. ATD inhibit T3 and T4 synthesis and show immunosuppressive effect. Propylthiouracil (PTU) reduces the T4 to T3 conversion. PTU, 5-10mg/kg/d, or methymazole, 0.5-1.0mg/kg, once a day, are commonly used. l-thyroxine, 100µg/m2/day should be added once the child is euthyroid. Remission rate is low. Mild adverse effects (rash, nausea, headache, and arthralgia) are not infrequent, whereas severe side effects (hepatitis, vasculitis, purpura fulminans and agranulocytosis) are fortunately rare. Recurrences can be treated with a new cycle of ATD, 131I or thyroidectomy. Mortality rate in thyroidectomy is low (0.08%) and the cure rate is around 80%. 131I is safe and cheap. It’s use as first choice therapy is increasing in different countries. High enough doses of 131I that lead to a complete ablation of the gland are advocated. Hypothyroidism should be adequately treated with l-thyroxine. Surgery and 131I are indicated to patients with TSH receptor and G protein a subunit gene mutations. Surgery also is the best treatment for pituitary TSH secreting tumors. In patients with THRS, T3 or triiodothyroacetic acid (TRIAC) have been used. Thyrotoxicosis due to follicular disruption is managed with b-blockers.

Carcinoma de paratiróide: características clínicas e anátomo-patológicas de cinco casos

Abstract: Parathyroid carcinoma is a rare disease, with about 535 cases reported in the literature until now. In this paper, we reviewed 5 cases of parathyroid carcinoma followed at Universidade Federal de Sao Paulo from 1983 to 1998, and discuss aspects of clinical presentation, diagnosis and treatment. Four patients were female and 1 male, with median ages of 52 years (10 to 77 years). Initial clinical complains were bone pain and weight loss in 4 patients, traumatic fracture in 2, and fracture without trauma in 3. Kidney stone was present in 1 patient. All had a palpable mass in the cervical region and presented with high calcium levels: 14.9±1.7mg/dL (mean±SD). Parathyroid hormone (PTH) levels were extremely high, showing the severity of the disease. All patients had surgical exploration where a tumor mass was recognized and removed. Pathologic examination demonstrated parathyroid carcinoma in all. On follow-up, 2 patients had recurrence and died due to complications of hyperparathyroidism. To date, the other 3 patients have no evidences of recurrence.