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2.
Sci Rep ; 10(1): 8298, 2020 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-32427839

RESUMO

Turner Syndrome (TS) is associated with an increased risk of cardiovascular and metabolic complications. Furthermore, TS women need hormone replacement therapy (HRT), of which progestins can influence body weight. We aimed to analyze the metabolic and weight profile in a cohort of 111 TS women. They started receiving estrogen at 15.8 (±3.6) years old, with no change in hypertension, dysglycemia, and dyslipidemia incidence but with a tendency to increase overweight (p = 0.054). As the first used type of progestin, most had received cycles of 10 days per month of medroxyprogesterone (MPA) or levonorgestrel (LNG), then shifted to micronized progesterone (MP), which has currently become the most used one. By multiple linear regression analysis, we found that the prolonged use of MPA, LNG, or MP showed no metabolic change except for weight gain. The percentage of annual BMI increment was positive for all progestins used in TS women (MPA 2.2 ± 2.2; LNG 0.2 ± 1.2; and MP 2.2 ± 2.6 kg/m2), but LNG seemed to best prevent on weight gain over time (p < 0.05). In conclusion, metabolic comorbidities are prevalent in TS even before the HRT regimen, and LNG performed better on less weight gain than MPA and MP in our cohort of the TS population.


Assuntos
Contraceptivos Hormonais/administração & dosagem , Terapia de Reposição de Estrogênios/métodos , Levanogestrel/administração & dosagem , Síndrome de Turner/tratamento farmacológico , Aumento de Peso/efeitos dos fármacos , Adolescente , Adulto , Índice de Massa Corporal , Contraceptivos Hormonais/farmacologia , Estudos Transversais , Feminino , Humanos , Levanogestrel/farmacologia , Medroxiprogesterona/administração & dosagem , Medroxiprogesterona/farmacologia , Progestinas/administração & dosagem , Progestinas/farmacologia , Estudos Retrospectivos , Resultado do Tratamento , Adulto Jovem
3.
Clin Endocrinol (Oxf) ; 91(5): 676-682, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31408198

RESUMO

OBJECTIVE: Investigate the gonadal hormonal function in sickle cell individuals. CONTEXT: Sickle cell disease (SCD) is associated with delayed physical and sexual development, and it has been related to both primary testicular failure and hypothalamo-pituitary-gonadal axis abnormalities. DESIGN: The study of the pituitary gonadotrophin reserve was done evaluating the hormonal levels before and after stimulation by gonadoliberin. PATIENTS: Male patients with homozygous SCD (18-39 years, median = 29.5 years). MEASUREMENTS: Gonadal function was evaluated through clinical parameters and the hormonal quantification. RESULTS: Although low body weight and other clinical signs of undernutrition such as clinical hypoandrogenism and the extreme retardation of puberty were seen in these patients, final stature and hormonal testicular reserve to hCG stimulation were proved to be normal according to our previous data. In the present investigation, the basal luteotropic gonadotropin (LH), follicle-stimulating hormone (FSH) and testosterone (T) levels were similar between the patients and controls. Prostate-specific antigen (PSA) levels-used as a biochemical marker of androgenicity, mainly in puberty-were lower in the patients than in the controls and were only correlated with T. A subtle abnormality in the pituitary responsivity to gonadotropin-releasing hormone (GnRH) was disclosed, with a higher response to LH 60 minutes after stimulation in patients than in controls. CONCLUSIONS: These data, in addition to both the clinical and biochemical signs of hypoandrogenism associated with normal to elevated T levels strongly suggest a peripheral origin of hypogonadism, which is probably due to androgen resistance in the patients with SCD.


Assuntos
Anemia Falciforme/sangue , Anemia Falciforme/tratamento farmacológico , Hormônio Liberador de Gonadotropina/uso terapêutico , Gonadotropinas Hipofisárias/sangue , Hipogonadismo/sangue , Hipogonadismo/tratamento farmacológico , Adolescente , Adulto , Humanos , Masculino , Testículo/metabolismo , Testículo/patologia , Adulto Jovem
4.
J Endocr Soc ; 3(7): 1403-1408, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-31286106

RESUMO

CONTEXT: Otitis is common in patients with Turner syndrome (TS) and may be misdiagnosed in the presence of other causes of otalgia. OBJECTIVE: We hypothesized that stylohyoid ligament calcification (SLC), named Eagle syndrome (ES), is a common cause of otalgia in TS. DESIGN: Cohort of 1-year data collection. SETTING: We analyzed all consecutive women with Turner syndrome (TW). PATIENTS: Ninety-six TW and 55 age-paired normal control women (CW). INTERVENTION: Participants were asked about current or past otalgia and had bilateral tonsillar palatine palpated by the same physician. MAIN OUTCOME MEASURES: When otalgia or cervicalgia plus painful palatine tonsil palpation was positive, participants underwent facial X-ray or three-dimensional cranial CT. If SLC was >25 mm, ES was confirmed. RESULTS: Thirty-four TW (35%) had clinical signs and 27/34 (79%) had radiologically confirmed ES. Of the TW with confirmed ES (27/96; 28%), 14 (51.9%) were inadvertently treated for recurrent otitis as a presumed cause of otalgia. Eleven of the TW with ES (26.1%) were below age 21. There was no association with karyotype, age, body mass index, or growth hormone use. Ten CW (18.2%) complained of symptoms of ES, but only 4 (7.3%) were radiologically confirmed (CW vs TW, P < 0.01), and none were <21 years old. ES occurred more at younger ages in TW (P < 0.002). CONCLUSION: ES is more prevalent in TW than in controls and occurs at younger ages. ES must be assessed as a common comorbidity of TS at any age, especially during childhood, as a differential diagnosis of otalgia.

5.
Arch. endocrinol. metab. (Online) ; 63(3): 208-214, May-June 2019. tab
Artigo em Inglês | LILACS | ID: biblio-1011163

RESUMO

ABSTRACT Objectives We aimed to measure the quality of life (QoL) of patients with Turner syndrome (PTS) and determine the extent to which their clinical or laboratory alterations influence QoL compared to reference women (RW) of the same age range. Subjects and methods From Dec-2013 to Dec-2014, 90 participants were recruited. They were 18 years and older: 48 with Turner syndrome (TS) (PTS) and 42 without (RW). Recruited subjects completed the Portuguese version of Short Form 36 (SF-36) questionnaire, and blood was drawn to measure LH, FSH, oestradiol (E2), progesterone (P4), SHBG, and SDHEA (by ECLIA) and testosterone (by LC MS/MS). Results Age and schooling were similar between groups. The most common occupations for PTS were health worker, administration and education, and health worker or cashier for RW. Most participants were Catholic or Evangelical. Eighty-one percent (39/48) of cases used Hormonal Replacement Therapy (HRT), mostly transdermal (23/39). RW and PTS scored similarly on the SF-36 questionnaire. RW had higher oestradiol (p = 0,01), lower FSH (p = 0,01) and higher testosterone (p = 0,01) than PTS. Concentrations of P4, LH, SHBG or SDHEA were similar. Significant associations were found among QoL and hormones (E2 with Vitality and LH with Physical Role) only in the PTS group. Conclusions PTS do not consider that TS affects their QoL as measured by domains on the SF-36. Oestradiol was related with QoL, emphasising the importance of HRT.


Assuntos
Humanos , Feminino , Adolescente , Adulto , Pessoa de Meia-Idade , Adulto Jovem , Qualidade de Vida , Síndrome de Turner/psicologia , Terapia de Reposição Hormonal/psicologia , Testosterona/sangue , Síndrome de Turner/sangue , Brasil , Estudos de Casos e Controles , Inquéritos e Questionários , Estradiol/sangue
6.
Arch Endocrinol Metab ; 63(3): 208-214, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31066761

RESUMO

OBJECTIVES: We aimed to measure the quality of life (QoL) of patients with Turner syndrome (PTS) and determine the extent to which their clinical or laboratory alterations influence QoL compared to reference women (RW) of the same age range. SUBJECTS AND METHODS: From Dec-2013 to Dec-2014, 90 participants were recruited. They were 18 years and older: 48 with Turner syndrome (TS) (PTS) and 42 without (RW). Recruited subjects completed the Portuguese version of Short Form 36 (SF-36) questionnaire, and blood was drawn to measure LH, FSH, oestradiol (E2), progesterone (P4), SHBG, and SDHEA (by ECLIA) and testosterone (by LC MS/MS). RESULTS: Age and schooling were similar between groups. The most common occupations for PTS were health worker, administration and education, and health worker or cashier for RW. Most participants were Catholic or Evangelical. Eighty-one percent (39/48) of cases used Hormonal Replacement Therapy (HRT), mostly transdermal (23/39). RW and PTS scored similarly on the SF-36 questionnaire. RW had higher oestradiol (p = 0,01), lower FSH (p = 0,01) and higher testosterone (p = 0,01) than PTS. Concentrations of P4, LH, SHBG or SDHEA were similar. Significant associations were found among QoL and hormones (E2 with Vitality and LH with Physical Role) only in the PTS group. CONCLUSIONS: PTS do not consider that TS affects their QoL as measured by domains on the SF-36. Oestradiol was related with QoL, emphasising the importance of HRT.


Assuntos
Terapia de Reposição Hormonal/psicologia , Qualidade de Vida , Síndrome de Turner/psicologia , Adolescente , Adulto , Brasil , Estudos de Casos e Controles , Estradiol/sangue , Feminino , Humanos , Pessoa de Meia-Idade , Inquéritos e Questionários , Testosterona/sangue , Síndrome de Turner/sangue , Adulto Jovem
7.
Blood Cells Mol Dis ; 54(1): 29-32, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25190051

RESUMO

Changes in weight/height ratio, delayed sexual maturation, hypogonadism and impaired fertility have been demonstrated in sickle cell disease (SCD). This study aimed to evaluate the clinical and laboratory views of the Leydig cells function after stimulation with hCG in adults with sickle cell disease. We studied 15 patients with SCD (18 to 40 years; median=27 years old), fourteen homozygous S, and one with SC disease. The control group, composed by adult males, was divided into two groups: I - 10 relatives (18-39 years, median=26 years) with the same socioeconomic level of the patients, and II - 9 normal individuals (23-28, median=31 years) randomly chosen. Clinically it was observed a slight degree of malnutrition, important puberty delay, rarefaction of chest, underarm and pubic hair, and important reduction of the testis and penis size, featuring a mild hypogonadism in patients with SCD. The hormonal level assessment of testosterone at baseline and at 24, 48 and 72 h after hCG stimulation showed no significant differences between the groups studied. We can presume that adult men with SCD showed clinical hypoandrogenism with normal testicular hormonal function, a fact inconsistent with the hypothesis of primary hypogonadism.


Assuntos
Anemia Falciforme , Hipogonadismo , Células Intersticiais do Testículo/metabolismo , Puberdade , Testosterona/sangue , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/patologia , Anemia Falciforme/fisiopatologia , Gonadotropina Coriônica/administração & dosagem , Humanos , Hipogonadismo/sangue , Hipogonadismo/patologia , Hipogonadismo/fisiopatologia , Células Intersticiais do Testículo/patologia , Masculino , Substâncias para o Controle da Reprodução/administração & dosagem
8.
Sao Paulo Med J ; 132(2): 111-5, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24714992

RESUMO

CONTEXT AND OBJECTIVE: Metabolic syndrome consists of a set of factors that imply increased risk of cardiovascular diseases. The objective here was to evaluate the association between sex hormone-binding globulin (SHBG), sex hormones and metabolic syndrome among men. DESIGN AND SETTING: Retrospective analysis on data from the study "Endogenous oestradiol but not testosterone is related to coronary artery disease in men", conducted in a hospital in São Paulo. METHODS: Men (aged 40-70) who underwent coronary angiography were selected. The age, weight, height, waist circumference, body mass index and prevalence of dyslipidemia, hypertension and diabetes of each patient were registered. Metabolic syndrome was defined in accordance with the criteria of the Third Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (NCEP-ATPIII). Serum samples were collected to assess the levels of glucose, total cholesterol, HDL-cholesterol (high density lipoprotein), triglycerides, albumin, SHBG, estradiol and total testosterone (TT). The levels of LDL-cholesterol (low density lipoprotein) were calculated using Friedewald's formula and free testosterone (FT) and bioavailable testosterone (BT) using Vermeulen's formula. RESULTS: 141 patients were enrolled in the study. The prevalence of metabolic syndrome was significantly higher in the first SHBG tercile than in the second and third terciles. A statistically significant positive association between the SHBG and TT values was observed, but no such association was seen between SHBG, BT and FT. CONCLUSION: Low serum levels of SHBG are associated with higher prevalence of metabolic syndrome among male patients, but further studies are required to confirm this association.


Assuntos
Hormônios Esteroides Gonadais/sangue , Síndrome Metabólica/sangue , Globulina de Ligação a Hormônio Sexual/análise , Adulto , Idoso , Análise de Variância , Glicemia/análise , Índice de Massa Corporal , Brasil/epidemiologia , Doenças Cardiovasculares/sangue , Colesterol/sangue , Humanos , Masculino , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Prevalência , Valores de Referência , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Circunferência da Cintura
9.
São Paulo med. j ; 132(2): 111-115, 2014. tab
Artigo em Inglês | LILACS, SES-SP | ID: lil-705375

RESUMO

CONTEXT AND OBJECTIVE: Metabolic syndrome consists of a set of factors that imply increased risk of cardiovascular diseases. The objective here was to evaluate the association between sex hormone-binding globulin (SHBG), sex hormones and metabolic syndrome among men. DESIGN AND SETTING: Retrospective analysis on data from the study "Endogenous oestradiol but not testosterone is related to coronary artery disease in men", conducted in a hospital in São Paulo. METHODS: Men (aged 40-70) who underwent coronary angiography were selected. The age, weight, height, waist circumference, body mass index and prevalence of dyslipidemia, hypertension and diabetes of each patient were registered. Metabolic syndrome was defined in accordance with the criteria of the Third Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (NCEP-ATPIII). Serum samples were collected to assess the levels of glucose, total cholesterol, HDL-cholesterol (high density lipoprotein), triglycerides, albumin, SHBG, estradiol and total testosterone (TT). The levels of LDL-cholesterol (low density lipoprotein) were calculated using Friedewald's formula and free testosterone (FT) and bioavailable testosterone (BT) using Vermeulen's formula. RESULTS: 141 patients were enrolled in the study. The prevalence of metabolic syndrome was significantly higher in the first SHBG tercile than in the second and third terciles. A statistically significant positive association between the SHBG and TT values was observed, but no such association was seen between SHBG, BT and FT. CONCLUSION: Low serum levels of SHBG are associated with higher prevalence of metabolic syndrome among male patients, but further studies are required to confirm this association. .


CONTEXTO E OBJETIVO: A síndrome metabólica (SM) consiste em um conjunto de fatores que implicam risco elevado para doenças cardiovasculares. O objetivo foi avaliar a associação entre a globulina ligadora de esteroides sexuais (SHBG), hormônios sexuais e a SM em homens. TIPO DE ESTUDO E LOCAL: Análise retrospectiva de dados do estudo "Estradiol mas não testosterona se correlaciona com doença arterial coronariana em homens", conduzido em um hospital em São Paulo. MÉTODOS: Foram selecionados pacientes do sexo masculino com idade entre 40 e 70 anos, submetidos a angiografia coronária. A idade, a prevalência de dislipidemia, hipertensão e diabetes, o peso, a altura, cintura e o índice de massa corpórea de cada paciente foram coletados. A definição de SM seguiu os critérios do NCEP-ATPIII. Amostras séricas foram coletadas para análises da glicose, colesterol total, colesterol-HDL (high density lipoprotein), triglicerídeos, albumina, SHBG, estradiol e testosterona total (TT). O colesterol-LDL (low density lipoprotein) foi calculado pela fórmula de Friedewald e as testosteronas livre (TL) e biodisponível (TB) pela fórmula de Vermeulen. RESULTADOS: Entraram no estudo 141 pacientes. A prevalência de SM foi significativamente maior no primeiro tercil de SHBG em comparação ao segundo e terceiro tercis. Foi verificada uma associação positiva e significativa ente os valores de SHBG e TT, porém essa associação não foi verificada entre SHBG e TB e TL. CONCLUSÃO: Baixos níveis séricos de SHBG estiveram associados com alta prevalência da SM em pacientes do sexo masculino. Faz-se necessário que estudos avaliem essa associação. .


Assuntos
Humanos , Masculino , Adulto , Pessoa de Meia-Idade , Idoso , Hormônios Esteroides Gonadais/sangue , Síndrome Metabólica/sangue , Globulina de Ligação a Hormônio Sexual/análise , Análise de Variância , Glicemia/análise , Índice de Massa Corporal , Brasil/epidemiologia , Doenças Cardiovasculares/sangue , Colesterol/sangue , Síndrome Metabólica/epidemiologia , Prevalência , Valores de Referência , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Circunferência da Cintura
10.
Clin Endocrinol (Oxf) ; 75(2): 177-83, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21521286

RESUMO

OBJECTIVES: Men die of coronary artery disease (CAD) more often than women. There is evidence that testosterone either is neutral or has a beneficial effect on male cardiovascular disease. The role of oestrogens in male CAD has been less studied. This study was carried out with the purpose of evaluating the relationship between sex hormone levels and CAD. DESIGN: Case-control study. PARTICIPANTS: Men (aged 40-70) submitted to coronary angiography. A 70% occlusion of at least one major coronary artery defined the cases; subjects with ≤ 50% occlusion constituted the control group. MEASUREMENTS: Blood samples were collected for total testosterone (TT), oestradiol, luteinizing hormone, follicle-stimulating hormone, sex hormone-binding globulin, lipid profile and albumin measurements. Bioavailable and free testosterone, free androgen index (FAI) and free oestrogen index (FEI) were calculated. Oestradiol and TT levels were examined as terciles, based on the whole study population. RESULTS: Of the 140 patients included, 72 were cases and 68 were controls. The baseline characteristics of the two groups were similar, except for the older age and lower LDL-C in the cases. Oestradiol and FEI but not total, bioavailable and free testosterone and FAI correlated positively with CAD. After adjustments for potential confounders, oestradiol remained statistically significant. The prevalence of CAD was significantly higher in the 3rd than in the 1st tercile of oestradiol. CONCLUSION: In this study, men with CAD had higher oestradiol and FEI levels. Additional studies are needed to clarify the direction of causality and possible underlying mechanisms.


Assuntos
Doença das Coronárias/sangue , Estradiol/sangue , Testosterona/sangue , Adulto , Idoso , Arteriopatias Oclusivas/sangue , Estudos de Casos e Controles , Angiografia Coronária , Doença das Coronárias/epidemiologia , Hormônios Esteroides Gonadais/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência
13.
São Paulo med. j ; 127(6): 373-378, Nov. 2009. ilus
Artigo em Inglês | LILACS | ID: lil-547355

RESUMO

Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60 percent of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60 percent of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30 percent), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.


A síndrome de Turner (ST) é uma das aneuploidias mais comuns em humanos e está presente em 1:2000 recém-nascidas com fenótipo feminino. Citogeneticamente, a síndrome é caracterizada por uma monossomia de cromossomo sexual (45,X) em 50-60 por cento dos casos. Os demais casos apresentam mosaicismo com uma linhagem celular 45,X acompanhada de outra(s) com o cromossomo X ou Y íntegros ou com alterações estruturais. A presença de material do cromossomo Y em pacientes com gônadas disgenéticas aumenta o risco de tumores gonadais, especialmente gonadoblastoma. A consideração mais importante diz respeito ao elevado risco de desenvolvimento de gonadoblastoma ou outros tumores e a virilização na puberdade se sequências cromossomo Y-específicas estiverem presentes. O papel do cromossomo Y na oncogênese dos cânceres humanos ainda é controverso. Apesar de o gonadoblastoma ser um tumor benigno, ele pode transformar-se num disgerminoma invasivo em 60 por cento dos casos e também em outras formas malignas de tumores de células germinativas. Apesar de alguns autores questionarem a alta incidência (em torno de 30 por cento) de gonadoblastoma, o risco do desenvolvimento de qualquer tipo de lesão gonadal, tumoral ou não, justifica a pesquisa de sequências do cromossomo Y por PCR (reação de polimerase em cadeia), técnica de alta sensibilidade, baixo custo e fácil execução. Em conclusão, o mosaicismo cromossômico tanto do X como do Y é um fato comum na ST e a detecção de sequências cromossomo Y-específicas nas portadoras, independentemente do seu cariótipo, é necessária para prevenir o desenvolvimento de lesões gonadais.


Assuntos
Feminino , Humanos , Cromossomos Humanos Y/genética , Gonadoblastoma/genética , Neoplasias Ovarianas/genética , Síndrome de Turner/genética , Gonadoblastoma/prevenção & controle , Mosaicismo , Neoplasias Ovarianas/prevenção & controle , Síndrome de Turner/complicações
14.
Arq. bras. endocrinol. metab ; 53(8): 915-922, nov. 2009. tab
Artigo em Português | LILACS | ID: lil-537027

RESUMO

As doenças cardiovasculares (DCV) representam atualmente o principal grupo de causa de morte no Brasil. Os homens morrem mais de doença arterial coronariana e possuem níveis mais elevados de testosterona do que as mulheres. No entanto, estudos recentes indicam que os andrógenos podem ter efeito benéfico e/ou neutro no sistema cardiovascular masculino. Baixos níveis de testosterona endógena têm sido relacionados à presença de vários componentes da síndrome metabólica, incluindo dislipidemia, obesidade visceral, hipertensão arterial sistêmica e estados pró-trombóticos. Os dados da relação entre testosterona e reatividade vascular, aterosclerose e mortalidade cardiovascular nos homens são escassos, com os resultados de estudos disponíveis apresentando contradições. Grandes estudos randomizados e prospectivos são necessários para avaliar a função específica dos andrógenos nas DCV masculinas, para que melhores conclusões possam ser estabelecidas.


Cardiovascular diseases (CVD) represent the main cause of death in Brazil. Men die more of coronary artery disease and they have higher levels of testosterone than women. However, recent studies indicate that androgens can have beneficial and/or neutral effect in the male cardiovascular system. Low levels of endogenous testosterone have been involved with the presence of some components of the metabolic syndrome including dyslipidemia, visceral obesity, hypertension and thrombus formation process. Consistent data on the relationship between testosterone and vascular reactivity, atherosclerosis and cardiovascular mortality in men are rare, with the results of available studies presenting contradictions. Large randomized and prospective trials are needed to evaluate androgen-specific function in male CVD so that better conclusions can be established.


Assuntos
Humanos , Masculino , Doenças Cardiovasculares/etiologia , Testosterona/sangue , Doenças Cardiovasculares/mortalidade , Fatores de Risco , Testosterona/deficiência , Testosterona/fisiologia
15.
Sao Paulo Med J ; 127(6): 373-8, 2009 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20512293

RESUMO

Turner syndrome (TS) is one of the most common types of aneuploidy among humans, and is present in 1:2000 newborns with female phenotype. Cytogenetically, the syndrome is characterized by sex chromosome monosomy (45,X), which is present in 50-60% of the cases. The other cases present mosaicism, with a 45,X cell line accompanied by one or more other cell lines with a complete or structurally abnormal X or Y chromosome. The presence of Y-chromosome material in patients with dysgenetic gonads increases the risk of gonadal tumors, especially gonadoblastoma. The greatest concern is the high risk of developing gonadoblastoma or other tumors and virilization during puberty if chromosome Y-specific sequences are present. The role of the Y chromosome in human oncogenesis is still controversial. Even though gonadoblastoma is a benign tumor, it can undergo transformation into invasive dysgerminoma in 60% of the cases, and also into other, malignant forms of germ cell tumors. Although some authors have questioned the high incidence of gonadoblastoma (around 30%), the risk of developing any kind of gonadal lesion, whether tumoral or not, justifies investigation of Y-chromosome sequences by means of the polymerase chain reaction (PCR), a highly sensitive, low-cost and easy-to-perform technique. In conclusion, mosaicism of both the X and the Y chromosome is a common finding in TS, and detection of Y-chromosome-specific sequences in patients, regardless of their karyotype, is necessary in order to prevent the development of gonadal lesions.


Assuntos
Cromossomos Humanos Y/genética , Gonadoblastoma/genética , Neoplasias Ovarianas/genética , Síndrome de Turner/genética , Feminino , Gonadoblastoma/prevenção & controle , Humanos , Mosaicismo , Neoplasias Ovarianas/prevenção & controle , Síndrome de Turner/complicações
16.
Arq Bras Endocrinol Metabol ; 53(8): 915-22, 2009 Nov.
Artigo em Português | MEDLINE | ID: mdl-20126843

RESUMO

Cardiovascular diseases (CVD) represent the main cause of death in Brazil. Men die more of coronary artery disease and they have higher levels of testosterone than women. However, recent studies indicate that androgens can have beneficial and/or neutral effect in the male cardiovascular system. Low levels of endogenous testosterone have been involved with the presence of some components of the metabolic syndrome including dyslipidemia, visceral obesity, hypertension and thrombus formation process. Consistent data on the relationship between testosterone and vascular reactivity, atherosclerosis and cardiovascular mortality in men are rare, with the results of available studies presenting contradictions. Large randomized and prospective trials are needed to evaluate androgen-specific function in male CVD so that better conclusions can be established.


Assuntos
Doenças Cardiovasculares/etiologia , Testosterona/sangue , Doenças Cardiovasculares/mortalidade , Humanos , Masculino , Fatores de Risco , Testosterona/deficiência , Testosterona/fisiologia
17.
J. bras. patol. med. lab ; 44(5): 337-342, out. 2008. graf, tab
Artigo em Português | LILACS | ID: lil-511959

RESUMO

Introdução: A determinação de cortisol nos diferentes fluídos orgânicos tem sido aplicada como auxílio diagnóstico em distintas condições nosológicas em humanos, bem como empregada em estudos envolvendo pesquisa clínica. No intervalo de aplicação clínica, rotineiramente é determinado pela técnica de radioimunoensaio (RIE). Na determinação do cortisol urinário livre essa técnica vem sendo substituída peloemprego da cromatografia líquida de alta eficiência (HPLC), principalmente no diagnóstico da síndrome de Cushing. Já para a determinação do cortisol sérico não se têm evidências do emprego da cromatografia líquida em substituição a outras técnicas analíticas. Objetivos: O desenvolvimento de metodologia analítica empregando HPLC no modo fase reversa (RP-HPLC) para a determinação de cortisol sérico em substituição ao RIE visando à redução da geração de resíduos radioativos. Material e métodos: O cortisol foi quantificado diretamente empregando-se RP-HPLC em amostras de soro previamente extraídas com éter utilizando-se acetonido de triancinolona como padrão interno (PI). Utilizou-se coluna analítica BDS-Hypesil-C18® (125 x 4 mm, 5 μm), fase móvel composta de água e acetonitrila (72:28; v/v) a 1 ml/min e detecção a 243 nm. Resultados: O cortisol e o PI apresentaram tempo de retenção de 3,4 e 7,1 min, respectivamente. O coeficiente de variação (CV%) obtido no estudo da precisão foi menor que 10%, e a exatidão apresentou um desvio inferior a 4%. Discussão: O método mostrou-se eficaz e eficiente, com sensibilidade e linearidade na faixa estudada de 2,5 a 60 μg/dl. Conclusão: O método proposto substitui o RIE no intervalo de sua aplicação clínica.


Background: The quantification of cortisol in different organic fluids has not only been applied to different humannosological conditions as a diagnostic aid but it has also been used in clinical research. In clinical application, cortisolis routinely measured by radioimmunoassay (RIA). In the determination of free urinary cortisol this technique has been replaced by the high-performance liquid chromatography mainly in the diagnosis of Cushing syndrome. As to serum cortisol determination, there is no evidence of the application of liquid chromatography as a substitute for other analytical techniques. Objective: The development of an analytical methodology using reversed-phase high-performance liquid chromatography (RP-HPLC) to determine serum cortisol levels as a substitute for RIA in order to reduce radioactive waste. Material and methods: Cortisol was directly quantified by RP-HPLC in previouslyether-extracted serum samples. Triamcinolone acetonide was used as internal standard (IS). The chromatographic separation was developed in a BDS-Hypersil-C18® column (125 x 4 mm, 5μm) using water-acetonitrile (72:28; v/v) as mobile phase at 1 ml/min and steroid peaks were measured at 243 nm. Results: Cortisol and IS presented retention time of 3.4 and 7.1 min, respectively. The precision was less than 10% and accuracy was less than 4%. Discussion: The method was effective and efficient, with good sensitivity and linearity in the concentration range of 2.5 to 60.0μg/dl. Conclusion: The present methodology substitutes RIA at clinical application.


Assuntos
Cromatografia Líquida de Alta Pressão/métodos , Hidrocortisona , Radioimunoensaio/métodos , Resíduos Radioativos/prevenção & controle
18.
Sao Paulo Med J ; 123(5): 215-8, 2005 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-16358095

RESUMO

CONTEXT AND OBJECTIVE: The evaluation of adrenocortical function with the use of therapeutic massage has been little studied in Brazil. The purpose of this study was to evaluate the salivary cortisol levels before and after Shantala massage therapy on healthy infants. DESIGN AND SETTING: Prospective case series, in a public nursery, in São Paulo. METHODS: Saliva was obtained from 11 infants at the times of 8:00-9:00 a.m. and 4:00-5:00 p.m. in a nursery and 9:00-10:00 p.m. at home. They received a 15-minute therapeutic massage on two consecutive days, and saliva was collected before and after the massage. The procedure was repeated after a one-week interval. Cortisol values (intra-assay < 5%; inter-assay < 10%) at different times of the day were compared by ANOVA. RESULTS: The mean cortisol values (nmol/l +/- SD) on the first day were: morning (M) = 14.1 +/- 5.7, afternoon (A) = 8.3 +/- 2.7, night (N) = 3.3 +/- 1.1; after two consecutive days of therapeutic massage: M = 22.3 +/- 13.5, A = 13.4 +/- 6.0, N = 5.8 +/- 3.5; after a one-week interval: M = 15.8 +/- 7.7, A = 14.3 +/- 7.7, N = 3.4 +/- 2.0. CONCLUSION: There was a modification in the salivary cortisol values following massage, thus reflecting possible adaptation of the hypothalamic-pituitary-adrenal axis.


Assuntos
Córtex Suprarrenal/fisiologia , Hidrocortisona/análise , Massagem/métodos , Saliva/química , Adaptação Fisiológica/fisiologia , Análise de Variância , Biomarcadores/análise , Ritmo Circadiano/fisiologia , Feminino , Humanos , Sistema Hipotálamo-Hipofisário/fisiologia , Lactente , Masculino , Sistema Hipófise-Suprarrenal/fisiologia , Estudos Prospectivos , Fatores de Tempo
19.
São Paulo med. j ; 123(5): 215-218, Sept.-Nov. 2005. ilus, tab, graf
Artigo em Inglês | LILACS | ID: lil-418651

RESUMO

CONTEXTO E OBJETIVO: A avaliação da função adrenocortical com uso da massagem terapêutica no Brasil tem sido pouco estudada. O objetivo foi avaliar os níveis de cortisol salivar antes e após a massagem terapêutica Shantala em lactentes sadios. TIPO DO ESTUDO E LOCAL: Prospectivo/série de casos, numa creche pública em São Paulo. MÉTODOS: Amostras de saliva foram obtidas de 11 lactentes durante um dia entre 08h00 e 09h00, 16h00 e 17h00 na creche, e entre 21h00 e 22h00 na residência. Durante dois dias consecutivos os lactentes receberam 15 minutos de massagem terapêutica, coletando-se a saliva antes e após a massagem. O procedimento foi repetido após intervalo de uma semana. Os valores de cortisol (duplicatas; coeficiente de variação intra e interensaio < 5% e < 10%) nos diferentes períodos do dia foram comparados por análise de variância com medidas repetidas (ANOVA) e análise descritiva. RESULTADOS: Os valores médios no primeiro dia (± desvio padrão) de cortisol (nmol/l) foram: manhã (M) = 14,1 ± 5,7; tarde (T) = 8,3 ± 2,7; noite (N) = 3,3 ± 1,1; e, após dois dias consecutivos com massagem terapêutica, foram: M = 22,3 ± 13,5; T = 13,4 ± 6,0; N = 5,8 ± 3,5, respectivamente. Após intervalo de uma semana, foram: M = 15,8 ± 7,7; T = 14,3 ± 7,7 e N = 3,4 ± 2,0 nmol/l. CONCLUSÃO: Houve modificação nos valores de cortisol salivar pós-massagem, refletindo possível adaptação do eixo hipotalâmico-hipofisário-adrenal nos lactentes.


Assuntos
Humanos , Masculino , Feminino , Lactente , Córtex Suprarrenal , Hidrocortisona/análise , Massagem/métodos , Saliva/química , Sistema Hipófise-Suprarrenal , Adaptação Fisiológica/fisiologia , Análise de Variância , Estudos Prospectivos , Fatores de Tempo , Biomarcadores/análise , Ritmo Circadiano/fisiologia , Sistema Hipotálamo-Hipofisário/fisiologia
20.
Clín. méd ; 6(3): 40, 43-4, 47, passim, mar. 1988. ilus, tab
Artigo em Português | LILACS | ID: lil-57668

RESUMO

A autora apresenta as bases fisiológicas para o uso clínico dos esteróides anabolizantes e a química dos compostos de uso corrente. Säo apresentados os efeitos colaterais indesejáveis e a toxicidade, que limitam o uso da droga. É feita uma revisäo crítica das situaçöes clínicas onde os benefícios do uso da droga säo superiores a possíveis efeitos indesejáveis colaterais


Assuntos
Anabolizantes , Anabolizantes/efeitos adversos , Anabolizantes/farmacologia , Anabolizantes/uso terapêutico , Química
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