Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism.
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.
D000738:Androsterone / Q000652:urine; D013196:Dihydrotestosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000235:genetics* / Q000378:metabolism; D004293:Dominican Republic; D005043:Etiocholanolone / Q000652:urine; D006801:Humans; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency* / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D011627:Puberty; D013250:Steroid Hydroxylases / Q000378:metabolism; D013739:Testosterone / Q000097:blood; D014316:Tritium
D013196:Dihydrotestosterone; D014316:Tritium; D013739:Testosterone; D005043:Etiocholanolone; D000738:Androsterone; D010088:Oxidoreductases; D013250:Steroid Hydroxylases