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01-04-2008 | Short Report

False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia

Authors: Felix Schreiner, Christoph Brack, Kirsten Salzgeber, Walburga Vorhoff, Joachim Woelfle, Bettina Gohlke

Published in: European Journal of Pediatrics | Issue 4/2008

Abstract

We report 5 out of 214 children with classical congenital adrenal hyperplasia (CAH) that was not detected by neonatal 17-Hydroxyprogesterone screening. Therefore, diagnosis was only based on a suspect clinical picture and subsequent re-evaluation. In addition to 3 patients suffering from the simple virilizing form of CAH and not reported so far, the remaining 2 children whose CAH was missed by the screening suffered from the severe salt-wasting form. This report underlines the importance of a careful clinical investigation of newborns to detect signs of genital virilization. The differential diagnosis of classical CAH should be kept in mind even if neonatal screening is reported to be normal.

Gudmundsson K, Majzoub JA, Bradwin G, Mandel S, Rifai N (1999) Virilising 21-hydroxylase deficiency: timing of newborn screening and confirmatory tests can be crucial. J Pediatr Endocrinol Metab 12(6):895–901PubMed

Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP (2000) Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany. J Clin Endocrinol Metab 85(3):1059–1065PubMedCrossRef

Rohrer TR, Gassmann KF, Pavel ME, Dorr HG (2003) Pitfall of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Biol Neonate 83(1):65–68PubMedCrossRef

Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90(2):584–595PubMedCrossRef

Therrell BL, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, Gonzalez J, Gunn S (1998) Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 101(4 Pt 1):583–590PubMedCrossRef

Thilen A, Nordenstrom A, Hagenfeldt L, von Dobeln U, Guthenberg C, Larsson A (1998) Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 101(4):E11CrossRef

Votava F, Torok D, Kovacs J, Moslinger D, Baumgartner-Parzer SM, Solyom J, Pribilincova Z, Battelino T, Lebl J, Frisch H, Waldhauser F, Middle European Society for Paediatric Endocrinology—Congenital Adrenal Hyperplasia (MESPE-CAH) Study Group (2005) Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia. Eur J Endocrinol 152(6):869–874PubMedCrossRef

Wilson RC, Mercado AB, Cheng KC, New MI (1995) Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 80(8):2322–2329PubMedCrossRef

Woelfle J, Hoepffner W, Sippell WG, Bramswig JH, Heidemann P, Deiss D, Bokenkamp A, Roth C, Irle U, Wollmann HA, Zachmann M, Kubini K, Albers N (2002) Complete virilization in congenital adrenal hyperplasia: clinical course, medical management and disease-related complications. Clin Endocrinol (Oxf) 56(2):231–238CrossRef

10.

Zabransky S, Schulze E, Heinrich UE (2001) Causes, clinical course, screening, and mutation analysis in congenital adrenal hyperplasia. In: Zabransky S (ed) Screening for inborn endocrine and metabolic disorders (Screening auf angeborene endokrine und metabole Störungen). Springer, Vienna, pp 181–195

Title: False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia
Authors: Felix Schreiner
Christoph Brack
Kirsten Salzgeber
Walburga Vorhoff
Joachim Woelfle
Bettina Gohlke
Publication date: 01-04-2008
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 4/2008
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-007-0505-0

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Springer Medicine

False negative 17-hydroxyprogesterone screening in children with classical congenital adrenal hyperplasia

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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