HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) All Versions of this Article: EJE-09-0145v1 161/2/285    most recent Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Cavarzere, P. Articles by Polak, M. Search for Related Content PubMed PubMed Citation Articles by Cavarzere, P. Articles by Polak, M.

Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

¹ Pediatric Endocrinology Unit, INSERM U845, Hôpital Necker-Enfants Malades, Paris Descartes University, 75748 Paris, France² Department of Pediatrics, University of Verona, Polyclinic G.B. Rossi, Piazzale Scuro 10, 37134 Verona, Italy³ Service d'Explorations Fonctionnelles, Paris Descartes University, Paris, France⁴ Service de Biostatistique, Hôpital Necker-Enfants Malades, Paris, France⁵ Biochimie Endocrinienne et Moléculaire, Hôpital Debrousse, INSERM U329, Lyon, France

(Correspondence should be addressed to P Cavarzere at Department of Pediatrics, University of Verona; Email: paolocavarzere{at}yahoo.it)

Objective: Neonatal screening for congenital adrenal hyperplasia (CAH) is characterized by a high false-positive rate, mainly among preterm and low birth weight infants. The aims of this study were to describe a subgroup of infants with transient serum hyper-17-hydroxyprogesteronemia (hyper-17-OHPemia) and to compare them with false positive and affected by 21-hydroxylase deficiency newborns.

Methods: We retrospectively analyzed the clinical data of all newborns positive at CAH neonatal screening, who were referred to our hospital to confirm the diagnosis from 2002 to 2006. They were submitted to clinical investigations and blood tests to evaluate 17-hydroxyprogesterone (17-OHP), renin, and electrolyte levels. CAH-unaffected newborns with increased serum 17-OHP were submitted to strict follow-up monitoring, which included an ACTH-stimulating test and genetic analysis of the 21-hydroxylase gene, until serum 17-OHP decreased.

Results: Thirty-seven newborns with gestational ages ranging from 33 to 40 weeks were studied. Eight infants (three male and five female) were affected by CAH (serum 17-OHP: 277.5 (210–921) nmol/l), 14 (ten male and four female) were false positives (17-OHP: 3.75 (0.3–8.4) nmol/l), and 15 (ten male and five female) showed a serum hyper-17-OHPemia (17-OHP: 15.9 (9.9–33) nmol/l). No mutations of the 21-hydroxylase gene were found in infants with hyper-17-OHPemia and their serum 17-OHP levels were normalized by the third month of life.

Conclusion: We identified a population of infants with transient serum hyper-17-OHPemia, and no clinical signs of disease or 21-hydroxylase gene mutations. No further investigations are necessary after birth in these newborns if 17-OHP levels decrease, other confirmatory tests such as ACTH-stimulation test or genotyping analysis are necessary only if symptoms appear.