Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

@article{ImperatoMcGinley1974Steroid5D,
  title={Steroid 5$\alpha$-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism},
  author={Julianne Imperato-McGinley and L. Julianne Guerrero and Teofilo Gautier and Ralph E. Peterson},
  journal={Science},
  year={1974},
  volume={186},
  pages={1213 - 1215}
}
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 5α-reductase activity. In utero the decrease in dihydrotestosterone results in incomplete masculinization of the external genitalia. Inheritance is autosomal recessive. 

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In four patients with the typical phenotype of testicular feminization, a severe deficit of specific androgen-binding activity was detected in cultured fibroblasts from labium majus skin, improving the differential diagnosis in patients with complete or imcomplete male pseudohermaphroditism before puberty.
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