메뉴 건너뛰기




Volumn 99, Issue 2, 2014, Pages 158-164

No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE;

EID: 84892798164     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2013-304473     Document Type: Article
Times cited : (20)

References (37)
  • 1
    • 0034454269 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • White PC, Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 2000;21:245-91.
    • (2000) Endocr Rev , vol.21 , pp. 245-291
    • White, P.C.1    Speiser, P.W.2
  • 2
    • 77956588420 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: An Endocrine Society clinical practice guideline
    • Endocrine Society
    • Speiser PW, Azziz R, Baskin LS, et al. Endocrine Society. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 2010;95:4133-60.
    • (2010) J Clin Endocrinol Metab , vol.95 , pp. 4133-4160
    • Speiser, P.W.1    Azziz, R.2    Baskin, L.S.3
  • 4
    • 84892809253 scopus 로고    scopus 로고
    • policy currently under review accessed 1 Aug 2013
    • UK National Screening Committee. UK NSC Policy database: Congenital Adrenal Hyperplasia (policy currently under review). http://www.screening.nhs. uk/congenitaladrenalhyperplasia (accessed 1 Aug 2013).
    • UK NSC Policy Database: Congenital Adrenal Hyperplasia
  • 5
    • 2642620230 scopus 로고    scopus 로고
    • Results of screening 1.9 million Texas newborns for 21-hydroxylase- deficient congenital adrenal hyperplasia
    • Therrell BL Jr, 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 -90.
    • (1998) Pediatrics , vol.101 , pp. 583-590
    • Therrell Jr., B.L.1    Berenbaum, S.A.2    Manter-Kapanke, V.3
  • 6
    • 0029839693 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia: Neonatal mass screening compared with clinical diagnosis only in the Emilia-Romagna region of Italy, 1980-1995
    • 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;98:362-7.
    • (1996) Pediatrics , vol.98 , pp. 362-367
    • Balsamo, A.1    Cacciari, E.2    Piazzi, S.3
  • 7
    • 0032757372 scopus 로고    scopus 로고
    • Effect of newborn screening for congenital adrenal hyperplasia
    • Brosnan PG, Brosnan CA, Kemp SF, et al. Effect of newborn screening for congenital adrenal hyperplasia. Arch Pediatr Adolesc Med 1999;153:1272-8.
    • (1999) Arch Pediatr Adolesc Med , vol.153 , pp. 1272-1278
    • Brosnan, P.G.1    Brosnan, C.A.2    Kemp, S.F.3
  • 8
    • 0032039591 scopus 로고    scopus 로고
    • Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden
    • 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.
    • (1998) Pediatrics , vol.101
    • Thil'en, A.1    Nordenström, A.2    Hagenfeldt, L.3
  • 9
    • 0035199542 scopus 로고    scopus 로고
    • Newborn screening for congenital adrenal hyperplasia in the Netherlands
    • Van der Kamp HJ, Noordam K, Elvers B, et al. Newborn screening for congenital adrenal hyperplasia in the Netherlands. Pediatrics 2001;108:1320-4.
    • (2001) Pediatrics , vol.108 , pp. 1320-1324
    • Van Der Kamp, H.J.1    Noordam, K.2    Elvers, B.3
  • 10
    • 52649165574 scopus 로고    scopus 로고
    • Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia
    • Gleeson HK, Wiley V, Wilcken B, et al. Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia. J Paediatr Child Health 2008;44:554-9.
    • (2008) J Paediatr Child Health , vol.44 , pp. 554-559
    • Gleeson, H.K.1    Wiley, V.2    Wilcken, B.3
  • 11
    • 12544254677 scopus 로고    scopus 로고
    • Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: Implications for neonatal screening
    • Nordenström A, Ahmed S, Jones J, et al. Female preponderance in congenital adrenal hyperplasia due to CYP21 deficiency in England: implications for neonatal screening. Horm Res 2005;63:22-8.
    • (2005) Horm Res , vol.63 , pp. 22-28
    • Nordenström, A.1    Ahmed, S.2    Jones, J.3
  • 12
    • 0025232467 scopus 로고
    • Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis
    • Thilén A, Larsson A. Congenital adrenal hyperplasia in Sweden 1969-1986. Prevalence, symptoms and age at diagnosis. Acta Paediatr Scand 1990;79:168-75.
    • (1990) Acta Paediatr Scand , vol.79 , pp. 168-175
    • Thilén, A.1    Larsson, A.2
  • 13
    • 0023263207 scopus 로고
    • Should we screen for congenital adrenal hyperplasia? A review of 117 cases
    • Virdi NK, Rayner PH, Rudd BT, et al. Should we screen for congenital adrenal hyperplasia? A review of 117 cases. Arch Dis Child 1987;62:659-62.
    • (1987) Arch Dis Child , vol.62 , pp. 659-662
    • Virdi, N.K.1    Rayner, P.H.2    Rudd, B.T.3
  • 14
    • 0034917140 scopus 로고    scopus 로고
    • Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries
    • Middle European Workshop on Paediatric Endocrinology-Congenital Adrenal Hyperplasia Study Group
    • Kovács J, Votava F, Heinze G, et al. Middle European Workshop on Paediatric Endocrinology-Congenital Adrenal Hyperplasia Study Group. Lessons from 30 years of clinical diagnosis and treatment of congenital adrenal hyperplasia in five middle European countries. J Clin Endocrinol Metab 2001;86:2958-64.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2958-2964
    • Kovács, J.1    Votava, F.2    Heinze, G.3
  • 15
    • 0036007258 scopus 로고    scopus 로고
    • Stability of 17α-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage
    • Török D, Mühl A, Votava F, et al. Stability of 17α-hydroxyprogesterone in dried blood spots after autoclaving and prolonged storage. Clin Chem 2002;48:370-2.
    • (2002) Clin Chem , vol.48 , pp. 370-372
    • Török, D.1    Mühl, A.2    Votava, F.3
  • 16
    • 42449147114 scopus 로고    scopus 로고
    • Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia
    • Liivak K, Tobi S, Schlecht H, et al. Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia. Horm Res 2008;69:227-32.
    • (2008) Horm Res , vol.69 , pp. 227-232
    • Liivak, K.1    Tobi, S.2    Schlecht, H.3
  • 17
    • 22744441059 scopus 로고    scopus 로고
    • Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia
    • Dolzan V, Sólyom J, Fekete G, et al. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia. Eur J Endocrinol 2005;153:99-106.
    • (2005) Eur J Endocrinol , vol.153 , pp. 99-106
    • Dolzan, V.1    Sólyom, J.2    Fekete, G.3
  • 18
    • 0028208951 scopus 로고
    • Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
    • Wedell A, Thilén A, Ritzén EM, et al. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 1994;78:1145-52.
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1145-1152
    • Wedell, A.1    Thilén, A.2    Ritzén, E.M.3
  • 19
    • 0028328926 scopus 로고
    • Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency
    • Donaldson MD, Thomas PH, Love JG, et al. Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency. Arch Dis Child 1994;70:214-8.
    • (1994) Arch Dis Child , vol.70 , pp. 214-218
    • Donaldson, M.D.1    Thomas, P.H.2    Love, J.G.3
  • 20
    • 0347589343 scopus 로고    scopus 로고
    • Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary
    • Török D, Eckhardt G, Sólyom J. Twenty years experience in rapid identification of congenital adrenal hyperplasia in Hungary. Eur J Pediatr 2003;162:844-9.
    • (2003) Eur J Pediatr , vol.162 , pp. 844-849
    • Török, D.1    Eckhardt, G.2    Sólyom, J.3
  • 21
    • 84856107011 scopus 로고    scopus 로고
    • Incidence and clinical features of congenital adrenal hyperplasia in Great Britain
    • Khalid JM, Oerton JM, Dezateux C, et al. Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch Dis Child 2012;97:101-6.
    • (2012) Arch Dis Child , vol.97 , pp. 101-106
    • Khalid, J.M.1    Oerton, J.M.2    Dezateux, C.3
  • 22
    • 2442466016 scopus 로고    scopus 로고
    • Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia
    • Ismail AA, Cawood M, Ufodiama EB, et al. Limitations of 17-hydroxyprogesterone in investigating neonatal hyponatraemia. Ann Clin Biochem 2004;41:245-7.
    • (2004) Ann Clin Biochem , vol.41 , pp. 245-247
    • Ismail, A.A.1    Cawood, M.2    Ufodiama, E.B.3
  • 23
    • 70349914332 scopus 로고    scopus 로고
    • Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: The Utah experience
    • 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. Pediatr Res 2009;66:230-5.
    • (2009) Pediatr Res , vol.66 , pp. 230-235
    • Schwarz, E.1    Liu, A.2    Randall, H.3
  • 24
    • 10744226079 scopus 로고    scopus 로고
    • Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry
    • 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;50:621-5.
    • (2004) Clin Chem , vol.50 , pp. 621-625
    • Lacey, J.M.1    Minutti, C.Z.2    Magera, M.J.3
  • 25
    • 3442878589 scopus 로고    scopus 로고
    • Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia
    • 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 Metab 2004;89:3687-93.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 3687-3693
    • Minutti, C.Z.1    Lacey, J.M.2    Magera, M.J.3
  • 26
    • 34447128813 scopus 로고    scopus 로고
    • Newborn screening for congenital adrenal hyperplasia: Additional steroid profile using liquid chromatography-tandem mass spectrometry
    • 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 Metab 2007;92:2581-9.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 2581-2589
    • Janzen, N.1    Peter, M.2    Sander, S.3
  • 27
    • 0026640090 scopus 로고
    • Identification of the steroids in neonatal plasma that interfere with 17 alpha-hydroxyprogesterone radioimmunoassays
    • 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;38:1830-7.
    • (1992) Clin Chem , vol.38 , pp. 1830-1837
    • Wong, T.1    Shackleton, C.H.2    Covey, T.R.3
  • 28
    • 67349124987 scopus 로고    scopus 로고
    • False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values
    • Fingerhut R. False positive rate in newborn screening for congenital adrenal hyperplasia (CAH)-ether extraction reveals two distinct reasons for elevated 17alpha-hydroxyprogesterone (17-OHP) values. Steroids 2009;74:662-5.
    • (2009) Steroids , vol.74 , pp. 662-665
    • Fingerhut, R.1
  • 29
    • 0346732365 scopus 로고    scopus 로고
    • Screening for congenital adrenal hyperplasia: Adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value
    • Olgemöller B, Roscher AA, Liebl B, et al . 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.
    • (2003) J Clin Endocrinol Metab , vol.88 , pp. 5790-5794
    • Olgemöller, B.1    Roscher, A.A.2    Liebl, B.3
  • 30
    • 68349146820 scopus 로고    scopus 로고
    • Transient hyper-17-hydroxyprogesteronemia: A clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia
    • Cavarzere P, Samara-Boustani D, Flechtner I, 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.
    • (2009) Eur J Endocrinol , vol.161 , pp. 285-292
    • Cavarzere, P.1    Samara-Boustani, D.2    Flechtner, I.3
  • 31
    • 19244384203 scopus 로고    scopus 로고
    • Neonatal screening for congenital adrenal hyperplasia: 17-Hydroxyprogesterone levels and CYP21 genotypes in preterm infants
    • Nordenström 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.
    • (2001) Pediatrics , vol.108
    • Nordenström, A.1    Wedell, A.2    Hagenfeldt, L.3
  • 32
    • 34247897102 scopus 로고    scopus 로고
    • How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?
    • Grosse SD, Van Vliet G. How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia? Horm Res 2007;67:284-91.
    • (2007) Horm Res , vol.67 , pp. 284-291
    • Grosse, S.D.1    Van Vliet, G.2
  • 33
    • 0031714625 scopus 로고    scopus 로고
    • Mortality in patients with congenital adrenal hyperplasia: A cohort study
    • Swerdlow AJ, Higgins CD, Brook CG, et al. Mortality in patients with congenital adrenal hyperplasia: a cohort study. J Pediatr 1998;133:516-20.
    • (1998) J Pediatr , vol.133 , pp. 516-520
    • Swerdlow, A.J.1    Higgins, C.D.2    Brook, C.G.3
  • 34
    • 0018887151 scopus 로고
    • Congenital adrenal hyperplasia-a clinical and genetic survey. Are we detecting male salt-losers?
    • 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;55:622-5.
    • (1980) Arch Dis Child , vol.55 , pp. 622-625
    • Murtaza, L.1    Sibert, J.R.2    Hughes, I.3
  • 35
    • 0022966125 scopus 로고
    • Congenital adrenal hyperplasia in Birmingham: A retrospective analysis (1958-1985)
    • Virdi NK, Green A. Congenital adrenal hyperplasia in Birmingham: a retrospective analysis (1958-1985). J Inherit Metab Dis 1986;9(Suppl 1):152-5.
    • (1986) J Inherit Metab Dis , vol.9 , Issue.SUPPL. 1 , pp. 152-155
    • Virdi, N.K.1    Green, A.2
  • 36
    • 70349757000 scopus 로고    scopus 로고
    • Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006
    • Dumic K, Krnic N, Skrabic V, et al. Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006. Horm Res 2009;72:310-4.
    • (2009) Horm Res , vol.72 , pp. 310-314
    • Dumic, K.1    Krnic, N.2    Skrabic, V.3
  • 37
    • 84856100509 scopus 로고    scopus 로고
    • Clinical presentation of older children with congenital adrenal hyperplasia: An important outcome for newborn screening policy
    • Knowles R, Khalid JM, Oerton J, et al. Clinical presentation of older children with congenital adrenal hyperplasia: an important outcome for newborn screening policy. Arch Dis Child 2010;95:A6 -7.
    • (2010) Arch Dis Child , vol.95
    • Knowles, R.1    Khalid, J.M.2    Oerton, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.