메뉴 건너뛰기




Volumn 88, Issue 6, 2003, Pages 2624-2633

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Relevance of genotype for management

Author keywords

[No Author keywords available]

Indexed keywords

HYDROXYPROGESTERONE; STEROID 21 MONOOXYGENASE; TESTOSTERONE;

EID: 0038644495     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021433     Document Type: Article
Times cited : (77)

References (45)
  • 1
    • 0028154269 scopus 로고
    • Genetics, diagnosis and management of 21-hydroxylase deficiency
    • Miller WL 1994 Genetics, diagnosis and management of 21-hydroxylase deficiency. J Clin Endocrinol Metab 78:241-246
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 241-246
    • Miller, W.L.1
  • 2
    • 0034454269 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • White PC, Speiser PW 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245-291
    • (2000) Endocr Rev , vol.21 , pp. 245-291
    • White, P.C.1    Speiser, P.W.2
  • 5
    • 0025300180 scopus 로고
    • Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: A small study
    • Zerah M, Ueshiba H, Wood E, Speiser PW, Crawford C, McDonald T, Pareira J, Gruen D, New MI 1990 Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small study. J Clin Endocrinol Metab 70:1662-1667
    • (1990) J Clin Endocrinol Metab , vol.70 , pp. 1662-1667
    • Zerah, M.1    Ueshiba, H.2    Wood, E.3    Speiser, P.W.4    Crawford, C.5    McDonald, T.6    Pareira, J.7    Gruen, D.8    New, M.I.9
  • 6
    • 0025935967 scopus 로고
    • Clinical and molecular genefics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Morel Y, Miller WL 1991 Clinical and molecular genefics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Adv Hum Genet 20:1-68
    • (1991) Adv Hum Genet , vol.20 , pp. 1-68
    • Morel, Y.1    Miller, W.L.2
  • 7
    • 0028208951 scopus 로고
    • Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: Implications for genetic diagnosis and association with disease manifestation
    • Wedell A, Thilen A, Ritzen EM, Stengler B, Luthman H 1994 Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. J Clin Endocrinol Metab 78:1145-1152
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 1145-1152
    • Wedell, A.1    Thilen, A.2    Ritzen, E.M.3    Stengler, B.4    Luthman, H.5
  • 8
    • 0029162371 scopus 로고
    • Steroid 21-hydroxylase deficiency: Genotype may not predict phenotype
    • Wilson R, Mercado A, Cheng K, New MI 1995 Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. J Clin Endocrinol Metab 80:2322-2329
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 2322-2329
    • Wilson, R.1    Mercado, A.2    Cheng, K.3    New, M.I.4
  • 9
    • 0029795093 scopus 로고    scopus 로고
    • Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Witchel SF, Bhamidipati DK, Hoffman EP, Cohen JB 1996 Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 81:4081-4088
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 4081-4088
    • Witchel, S.F.1    Bhamidipati, D.K.2    Hoffman, E.P.3    Cohen, J.B.4
  • 10
    • 0030982388 scopus 로고    scopus 로고
    • Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: Good correlation in a well defined population
    • Jääskeläinen J, Levo A, Voutilainen R, Partanen J 1997 Population-wide evaluation of disease manifestation in relation to molecular genotype in steroid 21-hydroxylase (CYP21) deficiency: good correlation in a well defined population. J Clin Endocrinol Metab 82:3293-3297
    • (1997) J Clin Endocrinol Metab , vol.82 , pp. 3293-3297
    • Jääskeläinen, J.1    Levo, A.2    Voutilainen, R.3    Partanen, J.4
  • 11
    • 0034452971 scopus 로고    scopus 로고
    • Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from Southern Germany
    • Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP 2000 Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from Southern Germany. J Clin Endocrinol Metab 85:1059-1065
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1059-1065
    • Krone, N.1    Braun, A.2    Roscher, A.A.3    Knorr, D.4    Schwarz, H.P.5
  • 12
    • 0035144892 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y, Kuttenn F 2001 Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 86:207-213
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 207-213
    • Deneux, C.1    Tardy, V.2    Dib, A.3    Mornet, E.4    Billaud, L.5    Charron, D.6    Morel, Y.7    Kuttenn, F.8
  • 13
    • 0034970428 scopus 로고    scopus 로고
    • The spectrum of molecular defects of the CYP21 gene in the Hellenic population: Variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia
    • Dracopoulou-Vabouli M, Maniati-Christidi M, Dacou-Voutetakis C 2001 The spectrum of molecular defects of the CYP21 gene in the Hellenic population: variable concordance between genotype and phenotype in the different forms of congenital adrenal hyperplasia. J Clin Endocrinol Metab 86:2845-2848
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2845-2848
    • Dracopoulou-Vabouli, M.1    Maniati-Christidi, M.2    Dacou-Voutetakis, C.3
  • 14
    • 78651044643 scopus 로고
    • Das Syndrom des Pseudothermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenüberproduktion (adrenaler Pseudohermaphroditismus masculinus)
    • Prader A, Gurtner HP 1955 Das Syndrom des Pseudothermaphroditismus masculinus bei kongenitaler Nebennierenrindenhyperplasie ohne Androgenüberproduktion (adrenaler Pseudohermaphroditismus masculinus). Helv Paediatr Acta 10:397-411
    • (1955) Helv Paediatr Acta , vol.10 , pp. 397-411
    • Prader, A.1    Gurtner, H.P.2
  • 15
    • 0014579256 scopus 로고
    • Genitography in intersexual states. A review of 86 cases with new criteria for the study of the uro-genital sinus
    • Josso N, Fortier-Beaulieu M, Fauré C 1969 Genitography in intersexual states. A review of 86 cases with new criteria for the study of the uro-genital sinus. Acta Endocrinol (Copenh) 62:165-180
    • (1969) Acta Endocrinol (Copenh) , vol.62 , pp. 165-180
    • Josso, N.1    Fortier-Beaulieu, M.2    Fauré, C.3
  • 17
    • 0014899071 scopus 로고
    • Standards for children's height at ages 2-9 years allowing for height of parents
    • Tanner JM, Goldstein H, Whitehouse RH 1970 Standards for children's height at ages 2-9 years allowing for height of parents. Arch Dis Child 47:755-762
    • (1970) Arch Dis Child , vol.47 , pp. 755-762
    • Tanner, J.M.1    Goldstein, H.2    Whitehouse, R.H.3
  • 19
    • 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 2001 Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 55:201-205
    • (2001) Horm Res , vol.55 , pp. 201-205
  • 20
    • 0027954787 scopus 로고
    • Clinical review 56: Nonclassical adrenal hyperplasia: Current concepts
    • Azziz R, Dewailly D, Owerbach D 1994 Clinical review 56: nonclassical adrenal hyperplasia: current concepts. J Clin Endocrinol Metab 78:810-815
    • (1994) J Clin Endocrinol Metab , vol.78 , pp. 810-815
    • Azziz, R.1    Dewailly, D.2    Owerbach, D.3
  • 21
    • 0034486847 scopus 로고    scopus 로고
    • How a patient homozygous for a 30-kb deletion of the C4-CYP21 genomic region can have a nonclassic form of 21-hydroxylase deficiency
    • L'Allemand D, Tardy V, Gruters A, Schnabel D, Krude H, Morel Y 2000 How a patient homozygous for a 30-kb deletion of the C4-CYP21 genomic region can have a nonclassic form of 21-hydroxylase deficiency. J Clin Endocrinol Metab 85:4562-4567
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 4562-4567
    • L'Allemand, D.1    Tardy, V.2    Gruters, A.3    Schnabel, D.4    Krude, H.5    Morel, Y.6
  • 23
    • 0024580639 scopus 로고
    • Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia
    • Morel Y, Andre J, Uring-Lambert B, Hauptmann G, Betuel H, Tossi M, Forest MG, David M, Bertrand J, Miller WL 1989 Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest 83:527-536
    • (1989) J Clin Invest , vol.83 , pp. 527-536
    • Morel, Y.1    Andre, J.2    Uring-Lambert, B.3    Hauptmann, G.4    Betuel, H.5    Tossi, M.6    Forest, M.G.7    David, M.8    Bertrand, J.9    Miller, W.L.10
  • 25
    • 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, Thilen A, Hagenfeldt L, Larsson A, Wedell A 1999 Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. J Clin Endocrinol Metab 84:1505-1509
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 1505-1509
    • Nordenström, A.1    Thilen, A.2    Hagenfeldt, L.3    Larsson, A.4    Wedell, A.5
  • 26
    • 0035742750 scopus 로고    scopus 로고
    • Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore
    • Loke KY, Seng Lee Y, Rhen Lee WW, Seng Poh LK 2001 Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore. Horm Res 55:179-184
    • (2001) Horm Res , vol.55 , pp. 179-184
    • Loke, K.Y.1    Seng Lee, Y.2    Rhen Lee, W.W.3    Seng Poh, L.K.4
  • 28
    • 0036846533 scopus 로고    scopus 로고
    • Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia
    • Nordenstrôm A, Servin A, Bohlin G, Larsson A, Wedell A 2002 Sex-typed toy play behavior correlates with the degree of prenatal androgen exposure assessed by CYP21 genotype in girls with congenital adrenal hyperplasia. J Clin Endocrinol Metab 87:5119-5124
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 5119-5124
    • Nordenstrôm, A.1    Servin, A.2    Bohlin, G.3    Larsson, A.4    Wedell, A.5
  • 29
    • 0034967174 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Alterations in cortisol pharmacokinetics at puberty
    • Charmandari E, Hindmarsh P, Johnston A, Brook C 2001 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty. J Clin Endocrinol Metab 86:2701-2708
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 2701-2708
    • Charmandari, E.1    Hindmarsh, P.2    Johnston, A.3    Brook, C.4
  • 31
    • 0034888448 scopus 로고    scopus 로고
    • Factors determining final height in congenital adrenal hyperplasia
    • New MI 2001 Factors determining final height in congenital adrenal hyperplasia. J Pediatr Endocrinol Metab 14:933-937
    • (2001) J Pediatr Endocrinol Metab , vol.14 , pp. 933-937
    • New, M.I.1
  • 32
    • 0028348383 scopus 로고
    • Taille définitive chez 69 sujets atteints d'hyperplasie congénitale des surrénales par déficit en 21-hydroxylase
    • David M, Sempe M, Blanc M 1994 Taille définitive chez 69 sujets atteints d'hyperplasie congénitale des surrénales par déficit en 21-hydroxylase. Arch Pédiatr 1:363-367
    • (1994) Arch Pédiatr , vol.1 , pp. 363-367
    • David, M.1    Sempe, M.2    Blanc, M.3
  • 33
    • 0034913838 scopus 로고    scopus 로고
    • Long term outcome in adult males with classic congenital adrenal hyperplasia
    • Cabrera M, Vogiatzi M, New M 2001 Long term outcome in adult males with classic congenital adrenal hyperplasia. J Clin Endocrinol Metab 86:3070-3078
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 3070-3078
    • Cabrera, M.1    Vogiatzi, M.2    New, M.3
  • 34
    • 0034748244 scopus 로고    scopus 로고
    • Serum cortisol and 17-hydroxyprogesterone interrelation in classical 21-hydroxylase deficiency: Is current replacement therapy satisfactory?
    • Charmandari E, Matthews D, Johnston A, Brook CG, Hindmarsh PC 2001 Serum cortisol and 17-hydroxyprogesterone interrelation in classical 21-hydroxylase deficiency: is current replacement therapy satisfactory? J Clin Endocrinol Metab 86:4679-4685
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4679-4685
    • Charmandari, E.1    Matthews, D.2    Johnston, A.3    Brook, C.G.4    Hindmarsh, P.C.5
  • 35
    • 0031058182 scopus 로고    scopus 로고
    • Non-classical 21-hydroxylase deficiency in infancy and childhood: The effect of time of initiation of therapy on puberty and final height
    • Weintrob N, Dickerman Z, Sprecher E, Galatzer A, Pertzelan A 1997 Non-classical 21-hydroxylase deficiency in infancy and childhood: the effect of time of initiation of therapy on puberty and final height. Eur J Endocrinol 136:188-195
    • (1997) Eur J Endocrinol , vol.136 , pp. 188-195
    • Weintrob, N.1    Dickerman, Z.2    Sprecher, E.3    Galatzer, A.4    Pertzelan, A.5
  • 36
    • 0037133083 scopus 로고    scopus 로고
    • Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Merke DP, Bornstein SR, Avila NA, Chrousos GP 2002 Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Intern Med 136:320-334
    • (2002) Ann Intern Med , vol.136 , pp. 320-334
    • Merke, D.P.1    Bornstein, S.R.2    Avila, N.A.3    Chrousos, G.P.4
  • 37
    • 0029846160 scopus 로고    scopus 로고
    • A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia
    • Laue L, Merke DP, Jones JV, Barnes KM, Hill S, Cutler GB 1996 A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia. J Clin Endocrinol Metab 81:3535-3539
    • (1996) J Clin Endocrinol Metab , vol.81 , pp. 3535-3539
    • Laue, L.1    Merke, D.P.2    Jones, J.V.3    Barnes, K.M.4    Hill, S.5    Cutler, G.B.6
  • 39
    • 0034119405 scopus 로고    scopus 로고
    • Long-term outcome of classical 21-hydroxylase deficiency: Diagnosis, complications and quality of life
    • Jääskeläinen J, Voutilainen R 2000 Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life. Acta Paediatr 89:183-187
    • (2000) Acta Paediatr , vol.89 , pp. 183-187
    • Jääskeläinen, J.1    Voutilainen, R.2
  • 40
    • 0028328926 scopus 로고
    • Presentation, acute illness, and learning difficulties in saltwasting 21-hydroxylase deficiency
    • Donaldson M, Thomas P, Love J, Murray G, McNinch A, Savage D 1994 Presentation, acute illness, and learning difficulties in saltwasting 21-hydroxylase deficiency. Arch Dis Child 70:214-218
    • (1994) Arch Dis Child , vol.70 , pp. 214-218
    • Donaldson, M.1    Thomas, P.2    Love, J.3    Murray, G.4    McNinch, A.5    Savage, D.6
  • 42
    • 0035068588 scopus 로고    scopus 로고
    • Bioavaibility of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Charmandari E, Johnston A, Brook CG, Hindmarsh PC 2001 Bioavaibility of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Endocrinol 169:65-70
    • (2001) J Endocrinol , vol.169 , pp. 65-70
    • Charmandari, E.1    Johnston, A.2    Brook, C.G.3    Hindmarsh, P.C.4
  • 43
    • 0033940727 scopus 로고    scopus 로고
    • How can molecular biology contribute to the management of congenital adrenal hyperplasia?
    • Ritzen EM, Lajic S, Wedell A 2000 How can molecular biology contribute to the management of congenital adrenal hyperplasia?. Horm Res 53:34-37
    • (2000) Horm Res , vol.53 , pp. 34-37
    • Ritzen, E.M.1    Lajic, S.2    Wedell, A.3
  • 44
    • 0036726640 scopus 로고    scopus 로고
    • Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology
    • Clayton PE, Miller WL, Oberfield SE, Ritzen EM, Sippell WG, Speiser PW 2002 Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Pediatric Endocrinology. J Clin Endocrinol Metab 87:4048-4053
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 4048-4053
    • Clayton, P.E.1    Miller, W.L.2    Oberfield, S.E.3    Ritzen, E.M.4    Sippell, W.G.5    Speiser, P.W.6
  • 45
    • 0002649082 scopus 로고    scopus 로고
    • Molecular genetics of 21-hydroxylase deficient adrenal hyperplasia
    • Azziz R, Nestler JE, Dewailly D, eds. Philadelphia: Lippincott-Raven
    • Morel Y, Tardy V 1997 Molecular genetics of 21-hydroxylase deficient adrenal hyperplasia. In: Azziz R, Nestler JE, Dewailly D, eds. Androgen excess disorders in women. Philadelphia: Lippincott-Raven; 159-162
    • (1997) Androgen Excess Disorders in Women , pp. 159-162
    • Morel, Y.1    Tardy, V.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.