Heterozygote detection in congenital adrenal hyperplasia
Handelsman, D.J.; Howe, C.J.; Conway, A.J.; Turtle, J.R.
Clinical Chemistry 29(1): 48-50
1983
ISSN/ISBN: 0009-9147 PMID: 6848281 Document Number: 210278
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.