Open Access
Issue
Med Sci (Paris)
Volume 37, Number 5, Mai 2021
La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
Page(s) 500 - 506
Section La révolution médicale du dépistage néonatal – Une aventure médicale scientifique et sociétale
DOI https://doi.org/10.1051/medsci/2021060
Published online 18 May 2021
  1. Speiser PW, Arlt W, Auchus RJ, et al. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline. J Clin Endocrinol Metab 2018 ; 103 : 4043–4088. [Google Scholar]
  2. Therrell BL, Berenbaum SA, Manter-Kapanke V, et al. Results of screening 1.9 million texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998 ; 101 : 583–590. [Google Scholar]
  3. Coulm B.. Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland france between 1996 and 2003. Arch Pediatr Adolesc Med 2012 ; 166 : 113. [Google Scholar]
  4. Gonzalez RR, Mäentausta O, Solyom J, et al. Direct solid-phase time-resolved fluoroimmunoassay of 17 alpha-hydroxyprogesterone in serum and dried blood spots on filter paper. Clin Chem 1990 ; 36 : 1667–1672. [Google Scholar]
  5. Gidlöf S, Falhammar H, Thilén A, et al. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study. Lancet Diabetes Endocrinol 2013 ; 1 : 35–42. [Google Scholar]
  6. Wong T, Shackleton CH, Covey TR, et al. Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. Clin Chem 1992 ; 38 : 1830–1837. [Google Scholar]
  7. Minutti CZ, Lacey JM, Magera MJ, et al. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metabol 2004 ; 89 : 3687–3693. [Google Scholar]
  8. Schwarz E, Liu A, Randall H, et al. Use of steroid profiling by uplc-ms/ms as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatric Res 2009 ; 66 : 230–235. [Google Scholar]
  9. Lacey JM, Minutti CZ, Magera MJ, et al. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem 2004 ; 50 : 621–625. [Google Scholar]
  10. Janzen N, Peter M, Sander S, et al. Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry. J Clin Endocrinol Metabol 2007 ; 92 : 2581–2589. [Google Scholar]
  11. Jean Fiet J, Le Bouc Y, Guéchot J, et al. A Liquid chromatography/tandem mass spectometry profile of 16 serum steroids, including 21-deoxycortisol and 21-deoxycorticosterone, for management of congenital adrenal hyperplasia. J Endocr Soc 2017; 1 : 186–201. [Google Scholar]
  12. Nordenstrom A, Wedell A, Hagenfeldt L, et al. Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics 2001 ; 108 : e68. [Google Scholar]
  13. Sarafoglou K, Gaviglio A, Hietala A, et al. Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants. J Pediatr 2014 ; 164 : 1136–1140. [Google Scholar]
  14. Huet F, Godefroy A, Cheillan D, et al. Faut-il maintenir un dépistage de l’hyperplasie congénitale des surrénales pour les prématurés ?. Arch Pediatr 2014 ; 21 : 233–236. [Google Scholar]
  15. der Kamp HJV, Noordam K, Elvers B, et al. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 2001 ; 108 : 1320–1324. [Google Scholar]
  16. van der Kamp HJ, Oudshoorn CGM, Elvers BH, et al. Cutoff levels of 17-α-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. J Clin Endocrinol Metabol 2005 ; 90 : 3904–3907. [Google Scholar]
  17. Travers S, Martinerie L, Boileau P, et al. Alterations of adrenal steroidomic profiles in preterm infants at birth. Arch Dis Child Fetal Neonatal Ed 2018 ; 103 : F143–F151. [Google Scholar]
  18. Auchus RJ, Witchel SF, Leight KR, et al. Guidelines for the development of comprehensive care centers for congenital adrenal hyperplasia: guidance from the CARES foundation initiative. Int J Pediatr Endocrinol 2010 ; 2010 : 1–17. [Google Scholar]
  19. Légifrance. Publications officielles. Journal officiel - JORF, no 0176 du 31 juillet 2013. [Google Scholar]
  20. Murtaza L, Sibert JR, Hughes I, et al. Congenital adrenal hyperplasia: a clinical and genetic survey. Are we detecting male salt-losers?. Arch Dis Child 1980 ; 55 : 622–625. [Google Scholar]
  21. Seymour CA, Thomason MJ, Chalmers RA, et al. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess 1997; 1 : i-iv, 1–95. [Google Scholar]
  22. Thil’en A, Nordenström A, Hagenfeldt L, et al. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 1998; 101 : E11. [Google Scholar]
  23. Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?. Horm Res Paediatr 2007 ; 67 : 284–291. [Google Scholar]
  24. Dörr HG, Wollmann HA, Hauffa BP, et al. Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany. BMC Endocr Disord 2018 ; 18 : 37. [Google Scholar]
  25. Brosnan PG, Brosnan CA, Kemp SF, et al. Effect of newborn screening for congenital adrenal hyperplasia. Arch Pediatr Adolesc Med 1999 ; 153 : 1272. [Google Scholar]
  26. Balsamo A, Cacciari E, Piazzi S, 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. [Google Scholar]
  27. Van der Kamp HJ, Noordam K, Elvers B, et al. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 2001 ; 108 : 1320–1324. [Google Scholar]
  28. Pang S, Shook MK. Current status of neonatal screening for congenital adrenal hyperplasia. Curr Opin Pediatr 1997 ; 9 : 419–423. [Google Scholar]
  29. Grosse SD, Van Vliet G. Challenges in assessing the cost-effectiveness of newborn screening: the example of congenital adrenal hyperplasia. IJNS 2020; 6 : 82. [Google Scholar]
  30. Hird BE, Tetlow L, Tobi S, et al. No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening. Arch Dis Child 2014 ; 99 : 158–164. [Google Scholar]

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