Androgen resistance caused by mutations in the androgen receptor gene

M. J. McPhaul, M. Marcelli, W. D. Tilley, Jim Griffin III, J. D. Wilson

Research output: Contribution to journalReview articlepeer-review

81 Scopus citations


Defects in the human androgen receptor cause a spectrum of defects in male phenotypic sexual development associated with abnormalities in the receptor protein assayed in cultured fibroblasts and in broken cell assays. In some patients these abnormalities are associated with absent ligand binding, in other qualitative or quantitative abnormalities of ligand binding are present, and in some no abnormality of ligand binding is detected. Analysis of the androgen gene structure in such patients has permitted identification of the causative mutation in many families. Although results of these studies often reinforce concepts established by in vitro mutagenesis studies of other steroid receptors, some mutations have provided unusual insight into the structural organization of the androgen receptor molecule.

Original languageEnglish (US)
Pages (from-to)2910-2915
Number of pages6
JournalFASEB Journal
Issue number14
StatePublished - 1991


  • Androgen resistance
  • Point mutation

ASJC Scopus subject areas

  • Biotechnology
  • Biochemistry
  • Molecular Biology
  • Genetics


Dive into the research topics of 'Androgen resistance caused by mutations in the androgen receptor gene'. Together they form a unique fingerprint.

Cite this