PMID: 18404975Apr 15, 2008Paper

Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina

Journal of Pediatric Endocrinology & Metabolism : JPEM
Laura Gruñieiro-PapendieckLaura Prieto

Abstract

To report the experience of the neonatal screening program for congenital adrenal hyperplasia (CAH) carried out in Buenos Aires, Argentina, from 1997 to 2006. 17-Hydroxyprogesterone (17OHP) was measured with an immunofluorometric assay in filter paper blood samples collected at neonatal maternity discharge. Filter paper blood levels <40 nmol/l were considered normal. 17OHP levels from 40-90 nmol/l triggered a new assessment to decide on a course of action. Confirmation of CAH was made with levels >90 nmol/l. This led to clinical follow up. For preterm (PT) infants, data were adjusted according to percentiles for gestational age and/or birth weight. From 80,436 screened newborns (46.8% girls), 8848 (11%) were PT. 15 term (T) and 3 PT infants were recalled (0.022%). Nine were confirmed as having CAH (8 T and 1 PT) (female/male: 0.8; incidence 1:8937). Mean ages of screening and treatment were 5.7 and 13 days. Only 33% of affected children were clinically suspected of having CAH prior to screening. Four boys and two girls presented salt-wasting forms and severe adrenal insufficiency crises were prevented as a result of the screening. Our findings confirm the benefits of CAH neonatal screening in our country with a high incidence o...Continue Reading

References

Jul 1, 1987·The Journal of Pediatrics·W L Miller, L S Levine
Jan 1, 1995·The Journal of Pediatrics·W S Cutfield, D Webster
Sep 6, 2002·The Journal of Clinical Endocrinology and Metabolism·Michael SteigertToni Torresani

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Citations

Aug 30, 2012·Revista da Associação Médica Brasileira·Cristina Botelho BarraJosé Nélio Januário
Jun 23, 2016·Molecular Genetics and Metabolism Reports·Melissa PearceNorma P Tavakoli
Nov 6, 2014·Arquivos brasileiros de endocrinologia e metabologia·Marilza Leal NascimentoPaulo Cesar Alves da Silva
May 12, 2018·Journal of Pediatric Endocrinology & Metabolism : JPEM·Asmaa Adel MilyaniMashael Al-Zanbagi
Apr 15, 2020·Clinical Endocrinology·Cecilia S FernándezLiliana Dain

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