Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening
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 pregnanetriolo...
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| Tipo de recurso: | artículo |
| Fecha de publicación: | 2016 |
| País: | España |
| Institución: | Servizo Galego de Saúde (SERGAS) |
| Repositorio: | RUNA. Repositorio da Consellería de Sanidade e Sergas |
| OAI Identifier: | oai:runa.sergas.gal:20.500.11940/9950 |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pubmed/27570738 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992010/ http://hdl.handle.net/20.500.11940/9950 |
| Access Level: | acceso abierto |
| Palabra clave: | Steroids Failure to Thrive Neonatal Screening Genotype cribado neonatal genotipo esteroides insuficiencia de crecimiento Cribado neonatal Hiperplasia adrenal congénita Hiperplasia adrenal conxénita |
| Sumario: | 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. |
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