Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening

@inproceedings{AlonsoFernndez2016PregnanetrioloneIP,
  title={Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening},
  author={J{\'o}se Ram{\'o}n Alonso-Fern{\^a}ndez},
  booktitle={Molecular genetics and metabolism reports},
  year={2016}
}
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… CONTINUE READING

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