DHT-receptor in cultured human fibroblasts: binding study in a family with androgen insensitivity (complete testicular feminisation). Issue 5 (October 1982)

• Record Type: Journal Article
• Authors: Donti, E; Nicoletti, I; Filipponi, P; Venti, G; Bocchini, V; Santeusanio, F
• Is Part Of: Journal of medical genetics. Volume 19:Issue 5(1982)
• Page Start: 349
• Page End: 353
• Publication Date: 1982-10
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.19.5.349
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.