TY - JOUR A1 - Alonso Fernández, José R T1 - Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening Y1 - 2016 SN - 2214-4269 UR - http://hdl.handle.net/20.500.11940/9950 AB - The standard method of primary neonatal screening for congenital adrenal hyperlasia (CAH), determination of 17-hydroxyprogesterone (17OHP) in heelprick blood, is the object of recurrent controversy because of its poor diagnostic and economic efficiency. The superior ability of urinary pregnanetriolone levels to discriminate between infants with and without classical CAH has been known for some time, but has not hitherto been exploited for primary screening. Here we propose an economical neonatal CAH-screening system based on fluorimetric determination of the product of reaction between urinary pregnanetriolone and phosphoric acid. KW - Steroids KW - Failure to Thrive KW - Neonatal Screening KW - Genotype KW - cribado neonatal KW - genotipo KW - esteroides KW - insuficiencia de crecimiento KW - cribado neonatal KW - esteroides KW - genotipo KW - insuficiencia de crecimiento KW - Cribado neonatal KW - Hiperplasia adrenal congénita KW - Hiperplasia adrenal conxénita LA - eng ER -