Recent data have demonstrated that 5α-reductase deficiency may be observed in androgen target cells of patients with pseudohermaphroditism characterized at birth by perineoscrotal hypospadias. It has been assumed that patients with 5α-reductase deficiency might have an enzyme defect not only localized in androgen target cells, but affecting the splanchnic compartment as well. At the present time, the factors that regulate 5α-reductase activity both in the liver and in androgen target cells remain unknown, at least in human beings.An investigationin vivoandin vitrowas carried out in order to obtain more information on 5α-reductase activity present in hepatic and extrahepatic tissues by studying and comparing patients having different kinds of 5α-reductase deficiency (i.e., hypothyroidism, pseudohermaphroditism due to 5α-reductase deficiency, and testicular feminization syndrome). The two patients with 5α-reductase deficiency were 25 and 20 years old, respectively. The four patients with testicular feminization syndrome (aged from 18 to 25 years) were untreated cases with the complete form of the syndrome (i.e., no axillary or pubic hair, no clitoral enlargement, and a 46,XY karyotype).
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