Studies on the pathogenesis of the incomplete forms of androgen resistance in man

The Journal of Clinical Endocrinology and Metabolism
J E Griffin, J D Wilson

Abstract

The affinity and turnover of the specific dihydrotestosterone binding protein have been assessed in fibroblasts cultured from genital skin from a variety of control subjects and from 4 patients with incomplete hereditary male pseudohermaphroditism due to androgen resistance (incomplete testicular feminization and Reifenstein syndrome). Whereas the amount of dihydrotestosterone binding in the 4 mutant cell strains is low, both the affinity of the protein for dihydrotestosterone as assessed by the concentration at which half-maximal binding occurs (averaging 0.2 nM) and the turnover of the binding protein (average half-life of 11--13 h) are within the normal range. Since no qualitative abnormality could be detected, these data suggest that the mutations in these two disorders affect the synthesis of the dihydrotestosterone binding protein.

Citations

Nov 1, 1979·Arthritis and Rheumatism·J D WilsonF W George
Apr 13, 1981·Molecular and Cellular Biochemistry·T R Brown, C J Migeon
Jul 1, 1982·Indian Journal of Pediatrics·R K Danish
May 1, 1980·Journal of Steroid Biochemistry·G Verhoeven
Jul 1, 1983·Journal of Steroid Biochemistry·G L WarneJ W Funder
Jan 1, 1989·Journal of Steroid Biochemistry·I MowszowiczP Mauvais-Jarvis
May 1, 1990·Journal of Steroid Biochemistry·P B GrinoJ D Wilson
Aug 1, 1988·European Journal of Obstetrics, Gynecology, and Reproductive Biology·A Ulloa-AguirreG Pérez-Palacios
Apr 1, 1991·Molecular and Cellular Endocrinology·A KrongradM J McPhaul
Jan 1, 1993·Molecular and Cellular Endocrinology·N González-CadavidJ Rajfer
Aug 11, 1995·Molecular and Cellular Endocrinology·H E MacLeanJ D Zajac
Feb 1, 1991·The Journal of Steroid Biochemistry and Molecular Biology·I MorimotoT Hara
Aug 1, 1994·The Journal of Steroid Biochemistry and Molecular Biology·R FujimotoS Eto
Feb 1, 1979·The New England Journal of Medicine·J AimanP C MacDonald
Nov 22, 1979·The New England Journal of Medicine·J D Baxter, J W Funder
Jan 24, 1980·The New England Journal of Medicine·J E Griffin, J D Wilson
Sep 1, 1983·The Journal of Clinical Investigation·S GyorkiJ W Funder
Feb 1, 1981·International Journal of Cosmetic Science·F Kuttenn, P Mauvais-Jarvis
Oct 1, 1980·Clinical Biochemistry·T C Spelsberg, P A Boyd-Leinen
Mar 1, 1979·Metabolism: Clinical and Experimental·G Verhoeven, J D Wilson
Aug 1, 1982·Australian and New Zealand Journal of Medicine·H S GrunsteinS Posen
May 1, 1986·Clinics in Endocrinology and Metabolism·F J Ebling
Sep 23, 2003·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·I O OliveiraP M Spritzer
Jun 1, 2007·Luminescence : the Journal of Biological and Chemical Luminescence·Jiu-Cun WangZewei Luo
Apr 1, 1981·The Australasian Journal of Dermatology·A CallanG Warne
Jan 1, 1981·American Journal of Medical Genetics·L PinskyR L Summitt
Jun 1, 1983·The Proceedings of the Nutrition Society·E L Blair
Mar 1, 1986·Annals of Clinical Biochemistry·A A IsmailM J Wheeler

Related Concepts

Carrier Proteins
Androgen Receptor
Receptors, Steroid
Intersexuality
Dihydroepitestosterone
Reifenstein Syndrome

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