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.
Luo
Jin Jun
JJ
Departments of Neurology and Pharmacology, Temple University School of Medicine, Philadelphia, PA. jluo@temple.edu
D000368:Aged; D004700:Endocrine System Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004967:Estrogens / Q000378:metabolism*; D006177:Gynecomastia / Q000209:etiology; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000209:etiology; D009134:Muscular Atrophy, Spinal / Q000473:pathology / Q000503:physiopathology*; D010523:Peripheral Nervous System Diseases / Q000209:etiology
D004967:Estrogens