RESUMO
A sixteen year old boy was admitted to our department for delayed puberty. The personal history was not significant and physical examination revealed only a genital hypogonadism. The endocrinology study of the patient showed a hypogonadotropic hypogonadism. The IQ was low. The personality showed infantilism and aggressive impulses. A karyotype revealed 47,XYY. We discuss here the clinical implications of the case.
Assuntos
Puberdade Tardia/genética , Cariótipo XYY/diagnóstico , Adolescente , Agressão , Hormônio Foliculoestimulante/sangue , Humanos , Deficiência Intelectual/genética , Hormônio Luteinizante/sangue , Masculino , Transtornos da Personalidade/genética , Puberdade Tardia/sangue , Síndrome , Testosterona/sangue , Cariótipo XYY/sangue , Cariótipo XYY/psicologiaRESUMO
Biliary salts determination after meal test is an useful liver function test. We evaluated both biliary salts and copper-ceruloplasmin after meal test in different liver diseases. Copper-ceruloplasmin determination does not seem to be useful in the diagnosis of liver diseases because copper has only partial hepatic clearance.
Assuntos
Ácidos e Sais Biliares/sangue , Ceruloplasmina/sangue , Cobre/sangue , Hepatopatias/sangue , Ingestão de Alimentos , Hepatite Crônica/sangue , Humanos , Cirrose Hepática/sangue , Testes de Função Hepática/métodosRESUMO
The diagnostic value of fasting and after meal test total bile acid determination in control subjects and in patients suffering from chronic persistent and active hepatitis, fatty liver and cirrhosis has been evaluated with fluorimetric method. Our results demonstrated the good sensitivity of determination of bile acids after meal test in evaluating the different forms of liver damage.