Weight-adjusted neonatal 17oh-progesterone cutoff levels improve the effciency of newborn screening for congenital adrenal hyperplasia;Determinação de pontos de corte para 17oh-progesterona de acordo com o peso ao nascimento melhora a efciência da triagem neonatal da hiperplasia adrenal congênita

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 55, Issue 8, 2011, Pages 632-637

  Hayashi, Giselle ^a,b   Faure, Cláudia ^a   Brondi, Maria Fernanda ^a   Vallejos, Carla ^a   Soares, Daiana ^a   Oliveira, Érica ^a   Brito, Vinícius N ^b   Mendonca, Berenice B ^b   Bachega, Tânia A S S ^b  

^a Associacao de Pais e Amigos dos Excepcionais de Sao Paulo   (Brazil)

^b UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

21 hydroxylase defciency; Congenital adrenal hyperplasia; Neonatal 17OH progesterone levels; Newborn screening; Preterm and full term newborns

Indexed keywords

HYDROXYPROGESTERONE;

BIRTH WEIGHT; BLOOD; BRAZIL; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; FLUOROIMMUNOASSAY; HUMAN; LABORATORY DIAGNOSIS; MALE; METHODOLOGY; NEWBORN; NEWBORN SCREENING; NONPARAMETRIC TEST; PREDICTIVE VALUE; REFERENCE VALUE; RETROSPECTIVE STUDY; REVIEW;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; BIRTH WEIGHT; BRAZIL; FALSE POSITIVE REACTIONS; FEMALE; FLUOROIMMUNOASSAY; HUMANS; INFANT, NEWBORN; MALE; NEONATAL SCREENING; PREDICTIVE VALUE OF TESTS; REFERENCE VALUES; RETROSPECTIVE STUDIES; STATISTICS, NONPARAMETRIC;

EID: 84855460109     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302011000800019     Document Type: Review

References (20)

1. White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol. 2009;5(9):490-8.
2. Bachega TA, Billerbeck AE, Madureira G, Marcondes JA, Longui CA, Leite MV, et al. Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase def-ciency. J Clin Endocrinol Metab. 1998;83(12):4416-9.
3. Paulino LC, Araujo M, Guerra G Jr, Marini SH, De Mello MP. Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase defciency. Acta Paediatr. 1999;88(3):275-83.
4. Torres N, Mello M P, Germano CM, Elias LL, Moreira AC, Castro M. Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. Braz J Med Biol Res. 2003;36(10):1311-8.
5. Silveira EL, dos Santos E P, Bachega TA, van der Linden Nader I, Gross JL, Elnecave RH. The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred- an estimate based on a public neonatal screening program in the state of Goi-ás. J Pediatr Endocrinol Metab. 2008;21(5):455-60.
6. Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res. 2007;67(6):284-91.
7. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke D P, et al. Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase defciency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2010;95(9):4133-60.
8. Pang SY, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxilase defciency. Pediatrics. 1988;81:866-74.
9. Thill'en A, Nordenstrom A, Hagenfeldt L, von Dobeln U, Guthen-berg C, Larsson A. Benefts of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase defciency) in Sweden. Pediatrics. 1998;101(4):E11.
10. Therrell BL. Newborn screening for congenital adrenal hyperpla-sia. Endocrinol Metab Clin North Am. 2001;30(1):15-30.
11. Torresani T, Gruters A, Scherz R, Burckhardt JJ, Harras AMZ, Zachmann M. Improving the effcacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17hydroxyprogesterone to gestational age. Screening. 1994;3:77-84.
12. 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-hydroxyproges-terone levels. J Pediatr. 1997;130(1):128-33.
13. Cavarzere P, Samara-Boustani D, Flechtner I, Dechaux M, Elie C, Tardy V, et al. Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol. 2009;161(2):285-92.
14. Nordenström A, Wedell A, Hagenfeldt L, Marcus C, Larsson A. Neonatal screening for congenital adrenal hyperplasia: 17-hydro-xyprogesterone levels and CYP21 genotypes in preterm infants. Pediatrics. 2001;108(4):1-8.
15. Prader A. Der genitalbefund beim pseudohermaphroditismus fe-mininus des krongenitalen adrenogenitalen syndromes: morpho-logia, häufgkeit, entwicklung and vererbung der verschiedenen genitalformen. Helv Paediat Acta. 1954;9:231-48.
16. Silveira EL, Elnecave RH, dos Santos EP, Moura V, Pinto EM, van der Linden Nader I, et al. Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia. Clin Genet. 2009;76(6):503-10.
17. Santos M, Silveira E, dos Santos E P, Gomes L, Madureira G, Brito V, et al. Comparison of clinical features between CAH cohorts from Goias and Sao Paulo: states with and without neonatal screening. VIII Congreso Latinoamericano de Errores Inatos del Metabolismo y Pesquisa Neonatal, September 18-21, 2011, Cusco, Peru.
18. Cardoso CB, Fonseca AA, Oliveira Mde F, Pereira BB, Guimarães MM. Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience. Arq Bras Endocrinol Metabol. 2005;49(1):112-9.
19. Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, et al. Steroid profling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2004;89(8):3687-93.
20. Nordenstrom A, Thill'en A, Hagenfeldt L, Larsson A, Wedell A. Ge-notyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due do steroid 21-hydro-xilase defciency. J Clin Endocrinol Metab. 1999;84(5):1505-9.