ABSTRACT
The human androgen receptor is a member of the superfamily of steroid hormone receptors and contains three functional domains: an amino-terminal region involved in the expression of androgen regulated genes, a central cystein-rich DNA binding region and a carboxy-terminal hormone binding region. Proper functioning of this protein is a prerequisite for normal male sexual differentiation and development. Androgen action is currently studied in vitro, using fibroblasts culture from genital skin and complementary DNA of the androgen receptor gene has been recently cloned and sequenced. During recent years a substantial progress has been made elucidating the structure-function relationship of the androgen receptor and the characterization of the molecular defects associated with androgen insensitivity syndromes. There appears to be a broad correlation between the degree of receptor dysfunction caused by the mutation and the patient phenotype
Subject(s)
Humans , Male , Androgen-Binding Protein/physiology , Receptors, Androgen/genetics , Disorders of Sex Development/genetics , Dihydrotestosterone/pharmacokinetics , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/deficiencyABSTRACT
Os autores estudaram a resposta terapêutica com testosterona por via intramuscular e didrotestosterona por via intramuscular e diidrotesterona por via cutânea em altas doses em dois pacientes adultos portadores de pseudohermafroditismo masculino por deficiência de 5-alfa-redutase. Os pacientes apresentaram pequena resposta a terapêutica, sem normalizaçäo do tamanho do pênis tanto com o tratamento com testosterona como com a didrotesterona. Os autores concluem que a resposta terapêutica ao tratamento hormonal de adultos com deficiência da 5- alfa-redutase é discreta, embora näo possam afastar a possibilidade de haver resposta terapêutica satisfatória em idade pré-puberal
Subject(s)
Adult , Humans , Male , 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/deficiency , Dihydrotestosterone/therapeutic use , Disorders of Sex Development/drug therapy , Testosterone/therapeutic useABSTRACT
Os autores apresentaram três casos de ambigüidade genital por deficiência de 5 alfa-reductase, diagnosticada pelos níveis elevados da relaçäo T/DHT. Os pacientes mais jovens apresentaram ginecomastia leve (Tanner II), ainda näo descrita nesta síndrome. Concluimos que o desenvolvimento de ginecomastia leve pode ocorrer no pseudo-hermafroditismo por deficiência de 5 alfa-reductase