[A case of pseudo-vaginal, perineoscrotal hypospadia with 5-alpha reductase deficiency].
A case of pseudovaginal perineoscrotal hypospadia (PPSH) is presented. This autosomal recessive disorder, also termed incomplete male pseudohermaphroditism type 2, is mostly caused by a deficiency of 5 alpha-reductase, which controls the conversion of testosterone to 5 alpha-dihydrotestosterone. In genital skin fibroblasts, the activity of the 5 alpha-reductase was strongly reduced, compared with a normal male. The 5 alpha-reductase activity in nongenital skin fibroblasts, however, was in the range of the normal male control. For complete diagnostic evaluation of PPSH 5 alpha-reductase activity it should be determined simultaneously in genital and non genital skin fibroblasts. The conversion of T to DHT in genital skin fibroblasts of a patient with testicular feminisation (Tfm) was found to be of the same order of magnitude as in PPSH. This suggests, that the expression of 5 alpha-reductase is androgen-dependent.
Wieacker
P
P
Universitäts-Frauenklinik, Freiburg.
Flecken
U
U
Breckwoldt
M
M
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D000293:Adolescent; D013196:Dihydrotestosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis* / Q000201:enzymology; D008297:Male; D013739:Testosterone / Q000097:blood
D013196:Dihydrotestosterone; D013739:Testosterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Ein Fall von pseudovaginaler, perineoskrotaler Hypospadie mit 5 alpha-Reduktase-Defizienz.