Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone.
D015065:17-Hydroxycorticosteroids / Q000652:urine; D015068:17-Ketosteroids / Q000652:urine; D000311:Adrenal Glands / Q000473:pathology; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000209:etiology; D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D003900:Desoxycorticosterone / Q000627:therapeutic use; D012734:Disorders of Sex Development / Q000175:diagnosis*; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D006913:Hydroxysteroid Dehydrogenases; D007008:Hypokalemia / Q000209:etiology; D007010:Hyponatremia / Q000209:etiology; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D006899:Mixed Function Oxygenases; D011276:Pregnanediol / Q000652:urine; D011279:Pregnanetriol / Q000652:urine; D011284:Pregnenolone / Q000096:biosynthesis*; D012636:Secretory Rate; D014556:Urine; D014882:Water-Electrolyte Balance
D015065:17-Hydroxycorticosteroids; D015068:17-Ketosteroids; D011279:Pregnanetriol; D003900:Desoxycorticosterone; D011284:Pregnenolone; D000324:Adrenocorticotropic Hormone; D006899:Mixed Function Oxygenases; D006913:Hydroxysteroid Dehydrogenases; D011276:Pregnanediol; D006854:Hydrocortisone