RESUMEN
3 beta-hydroxysteroid dehydrogenase deficiency is a disorder of steroid biosynthesis resulting in decreased production of all 3 groups of adrenal steroids. The symptomatology includes congenital adrenal hyperplasia disorders and ambiguous genitalia in 46, XY males. 3beta-HSD deficiency is a rare autosomal recessive genetic disorder. Much heterogeneity exists in the clinical presentation of this disorder.
Asunto(s)
3-Hidroxiesteroide Deshidrogenasas/deficiencia , Hiperplasia Suprarrenal Congénita/etiología , Trastornos del Desarrollo Sexual/etiología , Hiperplasia Suprarrenal Congénita/enzimología , Trastornos del Desarrollo Sexual/enzimología , Humanos , Recién Nacido , Masculino , Enfermedades Metabólicas/complicaciones , Enfermedades Metabólicas/diagnóstico , Enfermedades Metabólicas/tratamiento farmacológico , Enfermedades Metabólicas/etiologíaRESUMEN
We report the case of a 5 1/2 month baby with an atypical pneumonia. The PCR revealed a Pneumocystis carinii pneumonia. The complementary approach failed to show any immunosuppression. We will discuss the aetiology, physiopathology and treatment of Pneumocystis carnii pneumonia, particularly in cases without immunosuppression. We will also recall the importance of this disease in AIDS.