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1.
Cytogenet Genome Res ; 153(4): 190-197, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-29466784

RESUMO

To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.


Assuntos
Azoospermia/genética , Hormônios Esteroides Gonadais/sangue , Gonadotropinas Hipofisárias/sangue , Síndrome de Klinefelter/genética , Cariótipo Anormal , Adulto , Idoso , Aneuploidia , Azoospermia/sangue , Azoospermia/patologia , Cromossomos Humanos Y/genética , Cromossomos Humanos Y/ultraestrutura , Humanos , Infertilidade Masculina/etiologia , Cariotipagem , Síndrome de Klinefelter/sangue , Síndrome de Klinefelter/patologia , Masculino , Pessoa de Meia-Idade , Mosaicismo , Tamanho do Órgão , Análise do Sêmen , Deleção de Sequência , Testículo/patologia , Adulto Jovem
2.
J Gastroenterol Hepatol ; 23(6): 900-7, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17995942

RESUMO

BACKGROUND AND AIM: Recent data indicate that hepatic steatosis is associated with insulin resistance, dyslipidemia and obesity (especially central body fat distribution). There have been few studies on the correlation between biopsy-proven hepatic steatosis and the above factors in a disease-free population. The aim of the present study was to evaluate the relation between hepatic steatosis assessed by biopsy and clinical characteristics including regional fat distribution measured by computed tomography (CT) in living liver donors. METHODS: Laboratory data, liver/spleen Hounsfield ratio (L/S ratio), regional fat distribution by CT and liver status by biopsy were evaluated retrospectively in a total of 177 living liver donors without a history of alcohol intake. RESULTS: The unpaired t-test showed that age, triglycerides (TG), high density lipoprotein, total cholesterol, alanine aminotransferase, body mass index, L/S ratio, visceral adipose tissue area (VAT) and subcutaneous adipose tissue area (SAT) were associated with hepatic steatosis. In the multiple logistic regression analysis, VAT (odds ratio 1.031, 95% CI 1.013-1.048, P < 0.01) and TG (odds ratio 1.012, 95% CI 1.004-1.020, P < 0.01) were independent risk factors of hepatic steatosis. Subgroup analysis also showed that VAT was an independent risk factor in men (odds ratio 1.022, 95% CI 1.003-1.041, P < 0.05) and women (odds ratio 1.086, 95% CI 1.010-1.168, P < 0.05). CONCLUSION: Our results suggest that visceral abdominal adiposity is correlated with hepatic steatosis in healthy living liver donors.


Assuntos
Distribuição da Gordura Corporal , Fígado Gorduroso/diagnóstico por imagem , Fígado Gorduroso/patologia , Gordura Intra-Abdominal/diagnóstico por imagem , Gordura Intra-Abdominal/patologia , Tomografia Computadorizada por Raios X , Adolescente , Adulto , Biópsia , Índice de Massa Corporal , Fígado Gorduroso/etiologia , Feminino , Humanos , Doadores Vivos , Masculino , Pessoa de Meia-Idade , Obesidade/complicações , Razão de Chances , Análise de Regressão , Estudos Retrospectivos , Fatores de Risco , Gordura Subcutânea/diagnóstico por imagem , Gordura Subcutânea/patologia
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