A case of adrenogenital syndrome with aberrant 11beta-hydroxylation.
A 17 year old female patient with hypertension, amenorrhoea and hirsutism was found to have subnormal levels of plasma and urinary cortisol, significant plasma levels of Reichstein's compound S and 21-deoxycortisol, high urinary levels of THS and pregnanetriolone as well as elevated levels of plasma and urinary testosterone. Treatment with 0.5 mg/day of dexamethasone or 25 mg/day cortisone reduced her hypertension and restored her menstrual cycles, but also resulted in the development of moon face, body striae and a gain in weight. Lower doses of cortisone were without effect. The deficient cortisol production coupled with the presence of unusual intermediates such as Reichstein's compound S and 21-deoxycortisol can be explained by a shift in the substrate specificity of 11beta-hydroxylase from C-21-hydroxylated substrates (i.e. compound S) to C-21-deoxy substrates (i.e. 17-hydroxyprogesterone).
D015068:17-Ketosteroids / Q000378:metabolism; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000378:metabolism*; D000568:Amenorrhea / Q000378:metabolism; D003345:Corticosterone / Q000378:metabolism; D005260:Female; D006628:Hirsutism / Q000378:metabolism; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D006908:Hydroxyprogesterones / Q000378:metabolism; D006973:Hypertension / Q000378:metabolism*; D011279:Pregnanetriol / Q000378:metabolism; D011282:Pregnenediones / Q000652:urine; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013577:Syndrome; D013739:Testosterone / Q000652:urine; D013972:Thyrotropin / Q000652:urine; D014156:Transcortin / Q000097:blood
D015068:17-Ketosteroids; D006908:Hydroxyprogesterones; D011282:Pregnenediones; D011279:Pregnanetriol; D013739:Testosterone; D013972:Thyrotropin; D014156:Transcortin; D013250:Steroid Hydroxylases; D003345:Corticosterone; D006854:Hydrocortisone