Hyperestrogenemia simulating kennedy disease.

A 71-year-old man developed clinical signs of Kennedy disease including dysarthria, dysphagia, palatal and oral mandibular fasciculations, lower-extremity weakness, gynecomastia, and testicular atrophy. Electrophysiologic studies showed sensory axonal polyneuropathy and chronic neurogenic changes of large-motor unit action potentials with decreased recruitment. Genetic analysis showed a normal 17-CAG repeat sequence. Laboratory studies showed an increased estrogen level of 180 to 220 pg/mL, probably related to his alcoholic fatty liver disease. Splenomegaly was present by ultrasound. The increased level of estrogen adversely affected estrogen-sensitive cells in breast, testicular, neuronal, and muscle cells, leading to the clinical phenotype.