[Primary amenorrhoea, hypertension, and hypokalaemia in 17-hydroxylase deficiency, a not uncommon condition (author's transl)].
Five phenotypic female patients with primary amenorrhoea, mild hypertension, and hypokalaemia are described. The condition originates from 17-hydroxylase deficiency in both adrenals and gonads. Two cases had a XY chromosome pattern, two cases were familial. It is suggested to determine serum potassium in all cases with unexplained primary amenorrhoea.
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000150:complications*; D005260:Female; D005938:Glucocorticoids / Q000652:urine; D012739:Gonadal Steroid Hormones / Q000032:analysis; D006801:Humans; D006973:Hypertension / Q000150:complications; D007008:Hypokalemia / Q000150:complications*; D007621:Karyotyping; D008901:Mineralocorticoids / Q000652:urine; D010641:Phenotype; D013250:Steroid Hydroxylases / Q000172:deficiency*
D005938:Glucocorticoids; D012739:Gonadal Steroid Hormones; D008901:Mineralocorticoids; D013250:Steroid Hydroxylases
Primäre Amenorrhoe und Hypokaliämie infolge 17alpha-Hydroxylase-Mangels.