Steroid 5alpha-reductase deficiency in man. An inherited form of male pseudohermaphroditism.
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Biomedical subjects
Publications and source records attributed to L Guerrero.
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In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical evaluation reveals a marked decrease in plasma dihydrotestosterone secondary to a decrease in steroid 5alpha-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive.
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The evolution of several mechanical parameters of left ventricular function was studied in 32 control subjects, 171 chronic chagasic and 60 primary dilated cardiomyopathy patients, which were submitted to an extensive invasive and non-invasive protocol. Preload and afterload (end-diastolic and end-systolic stress), contractile status (ejection fraction), the magnitude (mass/index) and adequacy of hypertrophy (mass/volume ratio) and afterload (systolic stress/volume ratio) were derived from the invasive explorations. There was an increased afterload in 25% of chronic chagasic patients without other evidence of early myocardial damage, which was accompanied by signs of inadequate hypertrophy. Both findings increased further with the progression of the disease. Systolic performance was initially preserved, but showed a progressive depression paralleling the clinical evolution. Patients with dilated cardiomyopathy showed a mechanical profile similar to chagasic patients with advanced degree of myocardial damage. The hemodynamic determination of mass index, mass/volume ratio, end-systolic and end-diastolic stress seem to be the best parameters for detection of early abnormalities in loading conditions of the heart in chronic Chagas, disease, and for indication and evaluation of the results of vasodilator therapy in both groups of patients.