DHT-receptor in cultured human fibroblasts: binding study in a family with androgen insensitivity (complete testicular feminisation).
3H-DHT binding was examined in cultured skin fibroblasts from a patient with complete testicular feminisation (CTF), from his heterozygote mother, and his clinically normal sister, who menstruated normally. Binding parameters were: Bmax less than 1 fmol/mg protein and KD unmeasurable in CTF; Bmax = 24 fmol/mg protein and KD  = 3.63 X 10(-9) mol/l in the mother; and Bmax = 46 fmol/mg protein and KD = 3.7 X 10(-9) mol/l in the sister. Five cultures obtained from genital and non-genital skin of normal male and female subjects were used as controls, in which Bmax ranged from 37 to 62 fmol/mg and KD from 2.0 to 3.6 X 10(-9) mol/l. The considerable reduction of Bmax in the obligate heterozygote and the normal binding capacity in the sister, a probable heterozygote, suggests that it may be possible to use the DHT-receptor assay to identify carriers in families with androgen resistance.
D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics / Q000378:metabolism*; D002478:Cells, Cultured; D013196:Dihydrotestosterone / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011944:Receptors, Androgen / Q000378:metabolism*; D011987:Receptors, Steroid / Q000378:metabolism*; D012867:Skin / Q000166:cytology; D014316:Tritium
D011944:Receptors, Androgen; D011987:Receptors, Steroid; D013196:Dihydrotestosterone; D014316:Tritium