A new defect in the peripheral conversion of cortisone to cortisol.
A steroid disorder is described in two sisters, aged 13 and 17 years, in which the metabolism of cortisol results almost exclusively in urinary excretion of tetrahydro-cortisone (11-keto) derivatives. The evidence implies the existence of a deficiency in the peripheral enzymatic conversion of cortisone to cortisol.
D000293:Adolescent; D003348:Cortisone / Q000378:metabolism*; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism*; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000378:metabolism; D013761:Tetrahydrocortisone / Q000652:urine
D013761:Tetrahydrocortisone; D003348:Cortisone; D006854:Hydrocortisone