The Journal of Pediatrics
Volume 147, Issue 4 , Pages 493-498 , October 2005

Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls

  • Todd S. Varness, MD, MPH
  • ,
  • David B. Allen, MD

      Affiliations

    • Corresponding Author InformationReprint requests: David B. Allen, MD, University of Wisconsin Children's Hospital, H4/4 Clinical Science Center, 600 Highland Avenue, Madison, Wisconsin 53792-4108.
  • ,
  • Gary L. Hoffman, BS

Received 21 October 2004 ,Revised 10 February 2005 ,Accepted 14 April 2005.

References 

  1. Miller WL, Levine LS. Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr. 1987;111:1–17
  2. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 1977;45:1003–1008
  3. Pang S, Murphey W, Levine LS, Spence DA, Leon A, LaFranchi S, et al. A pilot newborn screening for congenital adrenal hyperplasia in Alaska. J Clin Endocrinol Metab. 1982;55:413–420
  4. Cutfield WS, Webster D. Newborn screening for congenital adrenal hyperplasia in New Zealand. J Pediatr. 1995;126:118–121
  5. Balsamo A, Cacciari E, Piazzi S, Cassio A, Bozza D, Pirazzoli P, et al. Congenital adrenal hyperplasia: neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995. Pediatrics. 1996;98:362–367
  6. Pang S, Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr. 1997;9:419–423
  7. Therrell BL, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics. 1998;101:583–590
  8. Thil'en A, Nordenstrom A, Hagenfeldt L, von Dobeln U, Guthenberg C, Larsson A. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics. 1998;101:E11
  9. Brosnan PG, Brosnan CA, Kemp SF, Domek DB, Jelley DH, Blackett PR, et al. Effect of newborn screening for congenital adrenal hyperplasia. Arch Pediatr Adolesc Med. 1999;153:1272–1278
  10. Van der Kamp HJ, Noordam K, Elvers B, Van Baarle M, Otten BJ, Verkerk PH. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics. 2001;108:1320–1324
  11. Steigert M, Schoenle EJ, Biason-Lauber A, Torresani T. High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland. J Clin Endocrinol Metab. 2002;87:4106–4110
  12. Pang S. Newborn screening for congenital adrenal hyperplasia. Pediatr Ann. 2003;32:516–523
  13. Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, Slyper A. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr. 1997;130:128–133
  14. Gruneiro dP, Prieto L, Chiesa A, Bengolea S, Bergada C. Congenital adrenal hyperplasia and early newborn screening: 17 alpha-hydroxyprogesterone (17 alpha-OHP) during the first days of life. J Med Screen. 1998;5:24–26
  15. Linder N, Davidovitch N, Kogan A, Barzilai A, Kuint J, Mazkeret R, et al. Longitudinal measurements of 17alpha-hydroxyprogesterone in premature infants during the first three months of life. Arch Dis Child Fetal Neonatal Ed. 1999;81:F175–F178
  16. Technical report: congenital adrenal hyperplasia. Section on Endocrinology and Committee on Genetics. Pediatrics. 2000;106:1511–1518
  17. Gruneiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, Bergada C. Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Horm Res. 2001;55:271–277
  18. Olgemoller B, Roscher AA, Liebl B, Fingerhut R. Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab. 2003;88:5790–5794
  19. Shinohara O, Ishiguro H, Shinagawa T, Kubota C. False negatives at neonatal screening for congenital adrenal hyperplasia in two siblings with 21-hydroxylase deficiency. Endocr J. 1998;45:427–430
  20. Gudmundsson K, Majzoub JA, Bradwin G, Mandel S, Rifai N. Virilising 21-hydroxylase deficiency: timing of newborn screening and confirmatory tests can be crucial. J Pediatr Endocrinol Metab. 1999;12:895–901
  21. al Nuaim AR, Abdullah MA, Stevens B, Zain M. Effect of gender, birth weight and gestational age on serum 17-hydroxyprogesterone concentration and distribution among neonates in Saudi Arabia. Indian J Pediatr. 1995;62:605–609
  22. Brosnan CA, Brosnan P, Therrell BL, Slater CH, Swint JM, Annegers JF, et al. A comparative cost analysis of newborn screening for classic congenital adrenal hyperplasia in Texas. Public Health Rep. 1998;113:170–178
  23. Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, et al. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2004;89:3687–3693
  24. Nordenstrom A, Thilen A, Hagenfeldt L, Larsson A, Wedell A. Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab. 1999;84:1505–1509
  25. Nordenstrom A, Wedell A, Hagenfeldt L, Marcus C, Larsson A. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics. 2001;108:E68

PII: S0022-3476(05)00344-6

doi: 10.1016/j.jpeds.2005.04.035

The Journal of Pediatrics
Volume 147, Issue 4 , Pages 493-498 , October 2005