A case of 17alpha-hydroxylase deficiency with symptoms mimicking testicular feminization.
A case of 17alpha-hydroxylase deficiency mimicking testicular feminization is reported. Different from the complete form of testicular feminization in which androgens are normal or elevated and end-organ insensitivity to androgens is supposed, this case had a negligible amount of androgens and responded to the injection of testosterone propionate with a positive nitrogen and phosphate balance.
D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D003937:Diagnosis, Differential; D005260:Female; D006728:Hormones / Q000378:metabolism; D006801:Humans; D006899:Mixed Function Oxygenases / Q000172:deficiency*; D013739:Testosterone / Q000627:therapeutic use
D006728:Hormones; D013739:Testosterone; D006899:Mixed Function Oxygenases