Neonatal screening for congenital adrenal hyperplasia: Transitory elevation of 17-hydroxyprogesterone

Journal of Pediatric Endocrinology and Metabolism

Volumn 24, Issue 3-4, 2011, Pages 155-162

  Fernández, Belén Huidobro ^a   Fernández, Maite Echeverria ^a   Íñiguez, Elena Dulín ^b   Zubicaray, Begoña Ezquieta ^a   Martín, María Belén Roldán ^a   Arnao, María Dolores Rodríguez ^a   Sánchez, Amparo Rodríguez ^a  

^a HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^b Laboratorio de Metabolopatí As de la Comunidad   (Spain)

Author keywords

17 hydroxyprogesterone; congenital adrenal hyperplasia; false positive; neonatal screening; transitory elevation of 17 hydroxyprogesterone

Indexed keywords

FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

ARTICLE; CONGENITAL ADRENAL HYPERPLASIA; FEMALE; GESTATIONAL AGE; HEALTH CARE COST; HORMONE BLOOD LEVEL; HUMAN; HYPERKALEMIA; HYPONATREMIA; INFANT; MAJOR CLINICAL STUDY; MALE; MENTAL STRESS; MOLECULAR DIAGNOSIS; NEWBORN; NEWBORN SCREENING; PHYSICAL EXAMINATION; TREATMENT OUTCOME;

17-ALPHA-HYDROXYPROGESTERONE; ADRENAL HYPERPLASIA, CONGENITAL; CLINICAL CHEMISTRY TESTS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; RETROSPECTIVE STUDIES; STEROID 21-HYDROXYLASE;

EID: 79955511669     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2011.007     Document Type: Article

References (41)

1. White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-91. (Pubitemid 32275589)
2. Huynh T, McGown I, Cowley D, Nyunt O, Leong GM, et al. The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev 2009;30:75-86.
3. Riepe FG, Sippell WG. Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21- hydroxylase deficiency. Rev Endocr Metab Disord 2007;8: 349-63.
4. Nimkarn S, Lin-Su K, New MI. Steroid 21-hydroxylase deficiency congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 2009;38:699-718.
5. Forest MG. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update 2004;10:469-85. (Pubitemid 39529880)
6. Merke DP, Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005;365:2125-36. (Pubitemid 40826971)
7. New MI. Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 2006;91:4205-14. (Pubitemid 44833386)
8. Pang S, Hotchkiss J, Drash AL, Levine LS, New MI. Microfi lter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 1977;45:1003-8. (Pubitemid 8238614)
9. Therrell BL Jr, Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, et al. Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 1998;101:583-90. (Pubitemid 28180138)
10. Thil'en A, Nordenstrom A, Hagenfeldt L, von Dobeln U, Guthenberg C, et al. Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden. Pediatrics 1998;101:E11.
11. Root AW. Neonatal screening for 21-hydroxylase deficient congenital adrenal hyperplasia - the role of CYP21 analysis. J Clin Endocrinol Metab 1999;84:1503-4. (Pubitemid 30644242)
12. Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia ? Horm Res 2007;67:284-91. (Pubitemid 46701493)
13. van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2004;151(Suppl 3):U71 - 5. (Pubitemid 39627058)
14. White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol 2009;5:490-8.
15. Cavarzere P, Samara-Boustani D, Flechtner I, Dechaux M, Elie C, et al. Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2009;161:285-92.
16. Carrascosa Lezcano A, Ferrandez Longas A, Yeste Fernandez D, Garcia-Dihinx Villanova J, Romo Montejo A, et al. [Spanish cross-sectional growth study 2008. Part I: weight and height values in newborns of 26 - 42 weeks of gestational age]. An Pediatr (Barc) 2008;68:544-51. (Pubitemid 351896031)
17. Ezquieta B, Cueva E, Oyarzabal M, Oliver A, Varela JM, et al. Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population. Clin Genet 2002;62: 181-8. (Pubitemid 36372719)
18. Ezquieta B, Oliver A, Gracia R, Gancedo PG. Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. Hum Genet 1995;96:198-204.
19. Ezquieta B, Oyarzabal M, Jariego CM, Varela JM, Chueca M. A novel frameshift mutation in the first exon of the 21-OH gene found in homozygosity in an apparently nonconsanguineous family. Horm Res 1999;51:135-41. (Pubitemid 29389371)
20. Ezquieta B, Beneyto M, Munoz-Pacheco R, Barrio R, Oyarzabal M, et al. Gene duplications in 21-hydroxylase deficiency: the importance of accurate molecular diagnosis in carrier detection and prenatal diagnosis. Prenat Diagn 2006;26:1172-8. (Pubitemid 44935283)
21. Ezquieta B, Oyarzabal M, Barrio R, Luzuriaga C, Hermoso F, et al. Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism. Horm Res 2009;71:28-37.
22. Rodriguez A, Ezquieta B, Varela JM, Moreno M, Dulin E, et al. [Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. Med Clin (Barc) 1997;109:669-72. (Pubitemid 28028159)
23. Ezquieta B, Ruano ML, Dulin E, Arnao DR, Rodriguez A. [Prevalence of frequent recessive diseases in the Spanish population through DNA analyses on samples from the neonatal screening]. Med Clin (Barc) 2005;125:493-5. (Pubitemid 41695877)
24. 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.
25. Berry J, Betts P, Wood PJ. The interpretation of bloodspot 17 ← hydroxyprogesterone levels in term and pre-term neonates. Ann Clin Biochem 1986;23:546-51. (Pubitemid 16042489)
26. Hingre RV, Gross SJ, Hingre KS, Mayes DM, Richman RA. Adrenal steroidogenesis in very low birth weight preterm infants. J Clin Endocrinol Metab 1994;78:266-70. (Pubitemid 24061737)
27. Lee MM, Rajagopalan L, Berg GJ, Moshang T Jr. Serum adrenal steroid concentrations in premature infants. J Clin Endocrinol Metab 1989;69:1133-6. (Pubitemid 20010038)
28. Ersch J, Beinder E, Stallmach T, Bucher HU, Torresani T. 17-Hydroxyprogesterone in premature infants as a marker of intrauterine stress. J Perinat Med 2008;36:157-60. (Pubitemid 351364299)
29. Honour JW, Torresani T. Evaluation of neonatal screening for congenital adrenal hyperplasia. Horm Res 2001;55:206-11. (Pubitemid 34701725)
30. 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;88:5790-4. (Pubitemid 38033052)
31. al Saedi S, Dean H, Dent W, Stockl E, Cronin C. Screening for congenital adrenal hyperplasia: the Delfi a Screening Test overestimates serum 17-hydroxyprogesterone in preterm infants. Pediatrics 1996;97:100-2. (Pubitemid 26012617)
32. Mizuno H, Ohro Y, Sugiyama Y, Ito T, Hasegawa T, et al. Transient hyper-17-OHPnemia unrelated to cross-reactions with residual fetal adrenal cortex products. Horm Res 2004;61:242-5. (Pubitemid 38490207)
33. Lange-Kubini K, Zachmann M, Kempken B, Torresani T. 15 Hydroxylated steroids may be diagnostically misleading in confi rming congenital adrenal hyperplasia suspected by a newborn screening programme. Eur J Pediatr 1996;155:928-31. (Pubitemid 26342865)
34. Wong T, Shackleton CH, Covey TR, Ellis G. Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays. Clin Chem 1992;38:1830 - 7.
35. 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: 4106-10.
36. Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, et al. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr 1997;130:128-33. (Pubitemid 27492730)
37. 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: 1505-9. (Pubitemid 30644243)
38. Terai I, Yamano K, Ichihara N, Arai J, Kobayashi K. Infl uence of spironolactone on neonatal screening for congenital adrenal hyperplasia. Arch Dis Child Fetal Neonatal Ed 1999;81:F179 - 83. (Pubitemid 29503324)
39. Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, et al. Steroid profi ling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab 2004;89: 3687-93. (Pubitemid 39071456)
40. Schwarz E, Liu A, Randall H, Haslip C, Keune F, et al. Use of steroid profi ling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr Res 2009;66:230-5.
41. Homma K, Hasegawa T, Takeshita E, Watanabe K, Anzo M, et al. Elevated urine pregnanetriolone defi nitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. J Clin Endocrinol Metab 2004;89:6087-91. (Pubitemid 39628418)