[Neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 2. Analysis of steroids with high-performance liquid chromatography for diagnosis of congenital adrenal hyperplasia].
A quantitative analysis of steroids in serum, dried blood samples on filter paper and amniotic fluid with high-performance liquid chromatography has been developed and applied to the diagnosis of risk infants on neonatal screening for congenital adrenal hyperplasia. The present method is simple, rapid and accurate. The detection limits of cortisol and 17 alpha-hydroxyprogesterone are 0.2 ng and 0.3 ng, respectively. The twenty-two steroids can be analysed within 60 minutes using the isogradient mobile phase. The method is highly correlated with radioimmunoassay and enzymeimmunoassay. In 4 patients with the salt-losing form, 17 alpha-hydroxyprogesterone was higher and cortisol lower than in 4 patients with the simple-virilizing form. This method seems suitable for the routine clinical elucidation of congenital adrenal hyperplasia.
D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital / Q000517:prevention & control*; D000653:Amniotic Fluid / Q000032:analysis*; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000032:analysis; D006908:Hydroxyprogesterones / Q000032:analysis; D007231:Infant, Newborn; D008403:Mass Screening / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013250:Steroid Hydroxylases / Q000172:deficiency*
D006908:Hydroxyprogesterones; D019326:17-alpha-Hydroxyprogesterone; D013250:Steroid Hydroxylases; D006854:Hydrocortisone