ABERRANT ANDROGEN ACTION AND INCREASED SIZE OF TANDEM CAG REPEAT IN ANDROGEN RECEPTOR GENE IN X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY

Plasma levels of testosterone, luteinizing hormone (LH) and follicle-s timulating hormone (FSH) after 3 or 6 days of administration of the sy nthetic androgenic hormone fluoxymesterone (10 mg/day) were measured i n 26 patients with X-linked recessive bulbospinal neuronopathy (X-BSNP ) and 22 age-matched male controls. The testosterone, LH and FSH level s in the controls were markedly suppressed after administration, but i n the patients with X-BSNP, they were suppressed significantly less. T he level of suppression varied considerably with the patients, and tho se of plasma testosterone and FSH were significantly correlated with t he number of CAG repeats in the androgen receptor gene. These findings suggest that the androgen action was aberrantly transduced in the tar get organs in the patients with X-BSNP and which is related to the elo ngated CAG repeat in the androgen receptor gene.