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Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns
Journal article   Peer reviewed

Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns

Kelli K Ryckman, Daniel E Cook, Stanton L Berberich, Oleg A Shchelochkov, Susan K Berends, Tamara Busch, John M Dagle and Jeffrey C Murray
Journal of pediatric endocrinology & metabolism : JPEM, Vol.25(3-4), pp.301-305
2012
DOI: 10.1515/jpem-2011-0456
PMCID: PMC3552557
PMID: 22768660

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Abstract

Nationally, newborn screening programs use 17-hydroxyprogesterone (17-OHP) as the biomarker to detect the rare but potentially fatal inherited disease, congenital adrenal hyperplasia. However, this biomarker is highly variable, with a high false-positive rate of detection, particularly in neonates born preterm. Several studies have examined various clinical and genetic factors to explain the variability of 17-OHP in preterm infants. The purpose of this study was to replicate previous clinical and genetic associations with 17-OHP in a well-characterized cohort of 762 preterm infants. We replicated previous findings that respiratory distress syndrome (p = 2 x 10(-3)) is associated with higher 17-OHP. Higher 17-OHP and false positives were significantly associated with lower gestational age and birth weight, as previously reported. Incorporating gestational age and birth weight together decreases the false-positive rate.
Prognosis Prospective Studies Respiratory Distress Syndrome, Newborn - diagnosis Humans Infant 17-alpha-Hydroxyprogesterone - blood Adrenal Hyperplasia, Congenital - genetics Neonatal Screening Gestational Age Adrenal Hyperplasia, Congenital - blood DNA - blood DNA - genetics Birth Weight Respiratory Distress Syndrome, Newborn - blood Adrenal Hyperplasia, Congenital - diagnosis Infant, Premature Respiratory Distress Syndrome, Newborn - genetics Female Retrospective Studies Infant, Newborn

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