Article
Androgen receptor mutations and androgen insensitivity.
Molecular and cellular endocrinology - 30 Dec 2002
McPhaul Michael J
Abstract excerpt
The androgen receptor (AR) is a high affinity receptor protein encoded on the human X-chromosome that mediates the actions of androgens during development and in the adult. Defects in this receptor protein result in a wide range of abnormalities of male sexual development. Studies in a number of different laboratories have identified mutations of the AR gene in subjects with androgen resistance syndromes. Defects...
Topics
- Androgen-Insensitivity Syndrome
- Androgens
- Female
- Humans
- Male
- Mutation
- Phenotype
- Receptors, Androgen
- Sex Differentiation