title: Hyperestrogenemia simulating kennedy disease.
abstract: 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.
authors: Departments of Neurology and Pharmacology, Temple University School of Medicine, Philadelphia, PA. jluo@temple.edu
authors: Jin Jun
authors: JJ
authors: Luo
mesh_terms: 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
chemical_list: D004967:Estrogens