Hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency: a case report.
We studied a patient with hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency. An 18-year-old high school student, who appeared to be a girl with poorly developed secondary sex characteristics, had generalized muscle weakness. The cause of muscle weakness proved to be hypokalemic myopathy confirmed by clinical findings and muscle biopsy. Endocrinologic study demonstrated 17 alpha-hydroxylase deficiency with male pseudohermaphroditism. The metabolic abnormality of this patient was corrected by the administration of glucocorticoid. The possibility of this rare disease has to be considered when we examine a patient who has hypokalemic myopathy associated with hypogonadism.
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital; D001706:Biopsy; D012734:Disorders of Sex Development / Q000201:enzymology; D006801:Humans; D006973:Hypertension / Q000201:enzymology; D007006:Hypogonadism / Q000201:enzymology; D007008:Hypokalemia / Q000201:enzymology*; D008297:Male; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000201:enzymology*; D013250:Steroid Hydroxylases / Q000172:deficiency*
D013250:Steroid Hydroxylases