Heterozygote detection in congenital adrenal hyperplasia.
Detection of heterozygote carriers for congenital adrenal hyperplasia by use of a modified tetracosactide (a synthetic corticotropin) stimulation test with prior overnight dexamethasone suppression proved to have a diagnostic accuracy of 95%. Discrimination of heterozygotes from normals was best when we used a criterion based on the ratios of 17 alpha-hydroxyprogesterone to cortisol at baseline and at 30 min after intravenous administration of 250 micrograms of tetracosactide.
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D003366:Cosyntropin / Q000494:pharmacology; D003907:Dexamethasone / Q000494:pharmacology; D005260:Female; D006580:Genetic Carrier Screening; D006628:Hirsutism / Q000097:blood / Q000209:etiology; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood; D008297:Male; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000209:etiology; D011863:Radioimmunoassay; D013997:Time Factors
D006908:Hydroxyprogesterones; D003366:Cosyntropin; D019326:17-alpha-Hydroxyprogesterone; D003907:Dexamethasone; D006854:Hydrocortisone