A NEW HEREDITARY DEFECT IN THE BIOSYNTHESIS OF ALDOSTERONE: URINARY C21-CORTICOSTEROID PATTERN IN THREE RELATED PATIENTS WITH A SALT-LOSING SYNDROME, SUGGESTING AN 18-OXIDATION DEFECT.
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids; D000293:Adolescent; D000305:Adrenal Cortex Hormones; D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use*; D000450:Aldosterone; D001722:Birth Order; D003241:Consanguinity; D003900:Desoxycorticosterone; D005826:Genetics, Medical; D006801:Humans; D006947:Hyperkalemia; D007010:Hyponatremia; D007223:Infant; D008661:Metabolism, Inborn Errors; D010336:Pathology; D012723:Sex; D013577:Syndrome
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids; D000305:Adrenal Cortex Hormones; D003900:Desoxycorticosterone; D000450:Aldosterone; D000324:Adrenocorticotropic Hormone
17-HYDROXYCORTICOSTEROIDS; 17-KETOSTEROIDS; ADOLESCENCE; ALDOSTERONE; BIRTH ORDER; CONSANGUINITY; CORTICOTROPIN, THERAPEUTIC; DESOXYCORTICOSTERONE; GENETICS, HUMAN; HYPERKALEMIA; HYPONATREMIA; INFANT; METABOLISM, INBORN ERRORS; PATHOLOGY; SEX