A Mutation of the Androgen Receptor Associated with Partial Androgen Resistance, Familial Gynecomastia, and Fertility
April 1988
in “
The Journal of Clinical Endocrinology & Metabolism
”
androgen receptor partial androgen resistance gynecomastia undervirilization X-linked inheritance supranormal serum testosterone LH FSH oligospermia sperm motility androgen binding thermolabile receptor up-regulation dissociation rates androgen receptor protein cytosol preparations testosterone luteinizing hormone follicle-stimulating hormone sperm count sperm movement
TLDR A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.
A family exhibited gynecomastia and undervirilization in five men, inherited in an X-linked manner. Despite supranormal serum testosterone and normal LH and FSH levels, one man had severe oligospermia with decreased motility, while another had normal sperm density and motility. Androgen receptor levels and binding affinity in cultured fibroblasts were normal, but androgen binding was thermolabile, receptor up-regulation did not occur, and dissociation rates were increased. The androgen receptor protein was unstable in cytosol preparations. This subtle androgen receptor abnormality allowed for normal male development and, in some cases, fertility, indicating that infertility is not always associated with androgen resistance.
