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Volumn 161, Issue 2, 2009, Pages 285-292

Transient hyper-17-hydroxyprogesteronemia: A clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN; CORTICOTROPIN; ELECTROLYTE; FLUDROCORTISONE; HYDROCORTISONE; HYDROXYPROGESTERONE; RENIN; SODIUM CHLORIDE; STEROID 21 MONOOXYGENASE; DNA; PRASTERONE SULFATE; TESTOSTERONE;

EID: 68349146820     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-09-0145     Document Type: Article
Times cited : (30)

References (50)
  • 1
    • 0032486954 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia - A continuum of disorders
    • Hughes IA. Congenital adrenal hyperplasia - a continuum of disorders. Lancet 1998 352 752-754. (Pubitemid 28404550)
    • (1998) Lancet , vol.352 , Issue.9130 , pp. 752-754
    • Hughes, I.A.1
  • 3
    • 0033607164 scopus 로고    scopus 로고
    • Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess
    • New MI & Wilson RC. Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. PNAS 1999 96 12790-12797.
    • (1999) PNAS , vol.96 , pp. 12790-12797
    • New, M.I.1    Wilson, R.C.2
  • 4
    • 38049048682 scopus 로고    scopus 로고
    • Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Riepe FG & Sippell WG. Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Reviews in Endocrine and Metabolic Disorders 2007 8 349-363.
    • (2007) Reviews in Endocrine and Metabolic Disorders , vol.8 , pp. 349-363
    • Riepe, F.G.1    Sippell, W.G.2
  • 5
    • 0035037360 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency
    • Speiser PW. Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Endocrinology and Metabolism Clinics of North America 2001 30 31-59. (Pubitemid 32381713)
    • (2001) Endocrinology and Metabolism Clinics of North America , vol.30 , Issue.1 , pp. 31-59
    • Speiser, P.W.1
  • 7
    • 0025935967 scopus 로고
    • Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Morel Y & Miller WL. Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Advances in Human Genetics 1991 20 1-68.
    • (1991) Advances in Human Genetics , vol.20 , pp. 1-68
    • Morel, Y.1    Miller, W.L.2
  • 8
    • 18644377699 scopus 로고    scopus 로고
    • Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and Lawson Wilkins Pediatric Endocrine Society
    • Joint ESPE/LWPES CAH Working Group
    • Joint ESPE/LWPES CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the European Society for Paediatric Endocrinology and Lawson Wilkins Pediatric Endocrine Society. Hormone Research 2002 58 188-195.
    • (2002) Hormone Research , vol.58 , pp. 188-195
  • 9
    • 0036726640 scopus 로고    scopus 로고
    • Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology
    • Joint ESPE/LWPES CAH Working Group
    • Joint ESPE/LWPES CAH Working Group. Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Journal of Clinical Endocrinology and Metabolism 2002 87 4048-4053.
    • (2002) Journal of Clinical Endocrinology and Metabolism , vol.87 , pp. 4048-4053
  • 11
    • 0033673199 scopus 로고    scopus 로고
    • Section on Endocrinology and Committee on Genetics. Techical report: Congenital adrenal hyperplasia
    • American Academy of Pediatrics
    • American Academy of Pediatrics. Section on Endocrinology and Committee on Genetics. Techical report: congenital adrenal hyperplasia. Pediatrics 2000 106 1511-1518.
    • (2000) Pediatrics , vol.106 , pp. 1511-1518
  • 12
    • 0023011626 scopus 로고
    • Neonatal screening for congenital adrenal hyperplasia: A pilot study in France
    • Dhondt JL, Dorche C, Farraiux JP & Courte C. Neonatal screening for congenital adrenal hyperplasia: a pilot study in France. Journal of Inherited Metabolic Disease 1986 9 147-151. (Pubitemid 17189784)
    • (1986) Journal of Inherited Metabolic Disease , vol.9 , Issue.SUPPL. 1 , pp. 147-151
    • Dhondt, J.L.1    Dorche, C.2    Farriaux, J.P.3    Courte, C.4
  • 13
    • 0028068309 scopus 로고
    • Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17α-hydroxyprogesterone to gestational age
    • DOI 10.1016/0925-6164(94)90003-5
    • Torresani T, Grüters A & Acherz R. Improving the efficacy of newborn screening for congenital adrenal hyperplasia by adjusting the cut-off level of 17-α-hydroxyprogesterone to gestational age. Screening 1994 3 77-84. (Pubitemid 24261937)
    • (1994) Screening , vol.3 , Issue.2 , pp. 77-84
    • Torresani, T.1    Gruters, A.2    Scherz, R.3    Burckhardt, J.J.4    Harras, A.5    Zachmann, M.6
  • 14
    • 0035743113 scopus 로고    scopus 로고
    • Evaluation of neonatal screening for congenital adrenal hyperplasia
    • DOI 10.1159/000049997
    • Honour JW & Torresani T. Evaluation of neonatal screening for congenital adrenal hyperplasia. Hormone Research 2001 55 206-211. (Pubitemid 34701725)
    • (2001) Hormone Research , vol.55 , Issue.4 , pp. 206-211
    • Honour, J.W.1    Torresani, T.2
  • 15
    • 0022548502 scopus 로고
    • The interpretation of bloodspot 17α-hydroxyprogesterone levels in term and pre-term neonates
    • Berry J, Betts P & Wood PJ. The interpretation of blood spot 17α-hydroxyprogesterone levels in term and pre-term neonates. Annals of Clinical Biochemistry 1986 23 546-551. (Pubitemid 16042489)
    • (1986) Annals of Clinical Biochemistry , vol.23 , Issue.5 , pp. 546-551
    • Berry, J.1    Betts, P.2    Wood, P.J.3
  • 16
    • 23044467470 scopus 로고    scopus 로고
    • Cutoff levels of 17-α-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight
    • DOI 10.1210/jc.2004-2136
    • Van Der Kamp HJ, Oudshoorn CGM, Elvers BH, Van Baarle M, Otten BJ, Wit JM & Verkerk PH. Cut-off level of 17-α-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. Journal of Clinical Endocrinology and Metabolism 2005 90 3904-3907. (Pubitemid 41058149)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.7 , pp. 3904-3907
    • Van Der Kamp, H.J.1    Oudshoorn, C.G.M.2    Elvers, B.H.3    Van Baarle, M.4    Otten, B.J.5    Wit, J.M.6    Verkerk, P.H.7
  • 17
    • 21044438029 scopus 로고    scopus 로고
    • Neonatal screening for congenital adrenal hyperplasia in north-eastern Italy: A report three years into the program
    • DOI 10.1159/000085021
    • Cavarzere P, Camilot M, Teofoli F & Tatò L. Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program. Hormone Research 2005 63 180-186. (Pubitemid 40875059)
    • (2005) Hormone Research , vol.63 , Issue.4 , pp. 180-186
    • Cavarzere, P.1    Camilot, M.2    Teofoli, F.3    Tato, L.4
  • 18
    • 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, Marcus C & Larsson A. 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    Marcus, C.4    Larsson, A.5
  • 19
    • 0035703617 scopus 로고    scopus 로고
    • Neonatal screening program for congenital adrenal hyperplasia: Adjustments to the recall protocol
    • DOI 10.1159/000050012
    • Gruñeiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G & Bergadá C. Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Hormone Research 2001 55 271-277. (Pubitemid 34114173)
    • (2001) Hormone Research , vol.55 , Issue.6 , pp. 271-277
    • Gruneiro-Papendieck, L.1    Prieto, L.2    Chiesa, A.3    Bengolea, S.4    Bossi, G.5    Bergada, C.6
  • 21
    • 0030729272 scopus 로고    scopus 로고
    • Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels
    • DOI 10.1016/S0022-3476(97)70321-4
    • Allen DB, Hoffman GL, Fitzpatrick P, Laessing R, Maby S & Slyper A. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. Journal of Pediatrics 1997 130 128-133. (Pubitemid 27492730)
    • (1997) Journal of Pediatrics , vol.130 , Issue.1 , pp. 128-133
    • Allen, D.B.1    Hoffman, G.L.2    Fitzpatrick, P.3    Laessig, R.4    Maby, S.5    Slyper, A.6
  • 22
    • 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
    • DOI 10.1210/jc.2002-021732
    • Olgemöller 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. Journal of Clinical Endocrinology and Metabolism 2003 88 5790-5794. (Pubitemid 38033052)
    • (2003) Journal of Clinical Endocrinology and Metabolism , vol.88 , Issue.12 , pp. 5790-5794
    • Olgemoller, B.1    Roscher, A.A.2    Liebl, B.3    Fingerhut, R.4
  • 23
    • 0035742056 scopus 로고    scopus 로고
    • Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology.
    • Working Group on Neonatal Screening of the European Society for Paediatric Endocrinology. Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hormone Research 2001 55 201-205.
    • (2001) Hormone Research , vol.55 , pp. 201-205
  • 24
    • 0033306917 scopus 로고    scopus 로고
    • Editorial: Neonatal screening for 21-hydroxylase deficient congenital adrenal hyperplasia-the role of CYP21 analysis
    • Root AW. Editorial: neonatal screening for 21-hydroxylase deficient congenital adrenal hyperplasia-the role of CYP21 analysis. Journal of Clinical Endocrinology and Metabolism 1999 84 1503-1504.
    • (1999) Journal of Clinical Endocrinology and Metabolism , vol.84 , pp. 1503-1504
    • Root, A.W.1
  • 25
    • 18944384700 scopus 로고    scopus 로고
    • 21-Hydroxylase deficiency: An exemplary model of the contribution of molecular biology in the understanding and management of the disease
    • Forest MG, Tardy V, Nicolino M, David M & Morel Y. 21-Hydroxylase deficiency: an exemplary model of the contribution of the molecular biology in the understanding and management of the disease. Annales d'Endocrinologie 2005 66 225-232. (Pubitemid 40705338)
    • (2005) Annales D'Endocrinologie , vol.66 , Issue.3 , pp. 225-232
    • Forest, M.G.1    Tardy, V.2    Nicolino, M.3    David, M.4    Morel, Y.5
  • 27
    • 20444462824 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia
    • Merke DP & Bornstein SR. Congenital adrenal hyperplasia. Lancet 2005 365 2125-2136.
    • (2005) Lancet , vol.365 , pp. 2125-2136
    • Merke, D.P.1    Bornstein, S.R.2
  • 28
    • 0034454269 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • DOI 10.1210/er.21.3.245
    • White PC & Speiser PW. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrine Reviews 2000 21 245-291. (Pubitemid 32275589)
    • (2000) Endocrine Reviews , vol.21 , Issue.3 , pp. 245-291
    • White, P.C.1    Speiser, P.W.2
  • 30
    • 0033311160 scopus 로고    scopus 로고
    • Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency
    • Nordenström A, Thilén 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. Journal of Clinical Endocrinology and Metabolism 1999 84 1505-1509. (Pubitemid 30644243)
    • (1999) Journal of Clinical Endocrinology and Metabolism , vol.84 , Issue.5 , pp. 1505-1509
    • Nordenstrom, A.1    Thilen, A.2    Hagenfeldt, L.3    Larsson, A.4    Wedell, A.5
  • 31
    • 1842851860 scopus 로고    scopus 로고
    • Transient hyper-17-OHPnemia unrelated to cross-reactions with residual fetal adrenal cortex products
    • DOI 10.1159/000076961
    • Mizuno H, Ohro Y, Sugiyama Y, Ito T, Hasegawa T, Homma K, Ueshiba H, Ono M & Togari H. Transient hyper-17-OHPnemia unrelated to cross-reactions with residual fetal adrenal cortex products. Hormone Research 2004 61 242-245. (Pubitemid 38490207)
    • (2004) Hormone Research , vol.61 , Issue.5 , pp. 242-245
    • Mizuno, H.1    Ohro, Y.2    Sugiyama, Y.3    Ito, T.4    Hasegawa, T.5    Homma, K.6    Ueshiba, H.7    Ono, M.8    Togari, H.9
  • 32
    • 78651037802 scopus 로고
    • Der Genitalbefund beim Pseudohermaphroditismus femininus der kongenitalen adrenogenitalen syndroms
    • Prader A. Der Genitalbefund beim Pseudohermaphroditismus femininus der kongenitalen adrenogenitalen syndroms. Helvetica Paediatrica Acta 1954 9 231-248.
    • (1954) Helvetica Paediatrica Acta , vol.9 , pp. 231-248
    • Prader, A.1
  • 33
    • 0019816556 scopus 로고
    • Plasma 17-OH-progesterone in fullterm and preterm infants at birth and during the early neonatal period
    • Godò B, Visser HKA & Degenhart HJ. Plasma 17-OH-progesterone in fullterm and pre-term infants at birth and during early neonatal period. Hormone Research 1981 15 65-71. (Pubitemid 12214192)
    • (1981) Hormone Research , vol.15 , Issue.2 , pp. 65-71
    • Godo, B.1    Visser, H.K.A.2    Degenhart, H.J.3
  • 36
    • 0017050233 scopus 로고
    • Use of highly specific antibodies against 17α-OH progesterone in a simplified non chromatographic RIA and in the simultaneous determination of sex hormones in human plasma
    • Forest MG. Use of highly specific antibodies against 17α-OH progesterone in a simplified non chromatographic RIA and in the simultaneous determination of sex hormones in human plasma. Hormone Research 1976 7 260-273.
    • (1976) Hormone Research , vol.7 , pp. 260-273
    • Forest, M.G.1
  • 37
    • 0015826162 scopus 로고
    • Total and unbound testosterone levels in the newborn and in normal and hypogonadal children: Use of a sensitive radioimmunoassay for testosterone
    • Forest MG, Cathiard AM & Bertrand J. Total and unbound testosterone levels in the newborn and in normal and hypogonadal children: use of a sensitive radioimmunoassay for testosterone. Journal of Clinical Endocrinology and Metabolism 1973 36 1132-1142.
    • (1973) Journal of Clinical Endocrinology and Metabolism , vol.36 , pp. 1132-1142
    • Forest, M.G.1    Cathiard, A.M.2    Bertrand, J.3
  • 38
    • 0018649240 scopus 로고
    • Plasma androgens (testosterone and 4-androstenedione) and 17-hydroxyprogesterone in the neonatal, prepubertal and peripubertal periods in the human and the rat: Differences between species
    • Forest MG. Plasma androgens (testosterone and 4-androstenedione) and 17-hydroxyprogesterone in the neonatal, prepubertal and peripubertal periods in the human and the rat: differences between species. Journal of Steroid Biochemistry 1979 11 543-548.
    • (1979) Journal of Steroid Biochemistry , vol.11 , pp. 543-548
    • Forest, M.G.1
  • 42
    • 0019230828 scopus 로고
    • Testicular and adrenal androgens and their binding to plasma proteins in the perinatal period: Developmental patterns of plasma testosterone, 4-androstenedione, dehydroepiandrosterone and its sulfate in premature and small for date infants as compared with that of full-term infants
    • Forest MG, De Peretti E & Bertrand J. Testicular and adrenal androgens and their binding to plasma proteins in the perinatal period: developmental patterns of plasma testosterone, 4-androstenedione, dehydroepiandrosterone and its sulphate in premature and small for date infants as compared with that of full-term infants. Journal of Steroid Biochemistry 1980 12 25-36. (Pubitemid 10079698)
    • (1980) Journal of Steroid Biochemistry , vol.VOL.12 , pp. 25-36
    • Forest, M.G.1    De Peretti, E.2    Bertrand, J.3
  • 46
    • 0026734638 scopus 로고
    • Analysis of blood spot 17-alpha-hydroxyprogesterone concentration in premature infants: Proposal for cut-off limits in screening for congenital adrenal hyperplasia
    • Ohkubo S, Shimozawa K, Matsumoto M & Kitagawa T. Analysis of blood spot 17-alpha-hydroxyprogesterone concentration in premature infants: proposal for cut-off limits in screening for congenital adrenal hyperplasia. Acta Paediatrica Japonica 1992 34 126-133.
    • (1992) Acta Paediatrica Japonica , vol.34 , pp. 126-133
    • Ohkubo, S.1    Shimozawa, K.2    Matsumoto, M.3    Kitagawa, T.4
  • 48
    • 0026316255 scopus 로고
    • Serum 17α-hydroxyprogesterone in infants and children as measured by a direct radioimmunoassay kit
    • Lee A & Ellis G. Serum 17α-hydroxyprogesterone in infants and children as measured by a direct radioimmunoassay kit. Clinical Biochemistry 1991 24 505-511.
    • (1991) Clinical Biochemistry , vol.24 , pp. 505-511
    • Lee, A.1    Ellis, G.2
  • 49
    • 0028208951 scopus 로고
    • Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
    • DOI 10.1210/jc.78.5.1145
    • Wedell A, Thilén A, Ritzén EM, Stengler B & Luthman H. Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. Journal of Clinical Endocrinology and Metabolism 1994 78 1145-1152. (Pubitemid 24143038)
    • (1994) Journal of Clinical Endocrinology and Metabolism , vol.78 , Issue.5 , pp. 1145-1152
    • Wedell, A.1    Thilen, A.2    Ritzen, E.M.3    Stengler, B.4    Luthman, H.5


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