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Volumn 26, Issue 7, 2010, Pages 521-523

17-alpha-hydroxylase deficiency: A case report with clinical and molecular analysis

Author keywords

17 Hydroxylase deficiency; Congenital adrenal hyperplasia; Primary amenorrhoea

Indexed keywords

CORTICOSTEROID; CORTICOTROPIN; CYTOCHROME P450 17; PRASTERONE; PROGESTERONE; STEROID 17ALPHA MONOOXYGENASE; TESTOSTERONE;

EID: 77953641071     PISSN: 09513590     EISSN: 14730766     Source Type: Journal    
DOI: 10.3109/09513591003632068     Document Type: Article
Times cited : (8)

References (9)
  • 1
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    • Disorders of sex differentiation
    • Larsen PK, Kronenberg HM, Melmed S, Polonsky KS. editors. 10th ed, Philadelphia, PA: Saunders;
    • Grumbach MM, Hughes IA, Conte FA. Disorders of sex differentiation. In: Larsen PK, Kronenberg HM, Melmed S, Polonsky KS. editors. Williams textbook of endocrinology. 10th ed, Philadelphia, PA: Saunders; 2003. pp 842-1002.
    • (2003) Williams Textbook of Endocrinology , pp. 842-1002
    • Grumbach, M.M.1    Hughes, I.A.2    Conte, F.A.3
  • 2
    • 0035165548 scopus 로고    scopus 로고
    • 17-Hydroxylase: An evaluation of the present view of its catalytic role in steroidogenesis
    • Lieberman S, Warne PA. 17-Hydroxylase: an evaluation of the present view of its catalytic role in steroidogenesis. J Steroid Biochem Mol Biol 2001;78:299-312.
    • (2001) J Steroid Biochem Mol Biol , vol.78 , pp. 299-312
    • Lieberman, S.1    Warne, P.A.2
  • 3
    • 33947219532 scopus 로고    scopus 로고
    • A compound heterozygous mutation in the CYP17 (17ahydroxylase/ 17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia
    • Won GS, Chiu CY, Tso YC, Jenq SF, Cheng PS, Jap TS. A compound heterozygous mutation in the CYP17 (17ahydroxylase/ 17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia. Metabolism 2007;56:504-507.
    • (2007) Metabolism , vol.56 , pp. 504-507
    • Won, G.S.1    Chiu, C.Y.2    Tso, Y.C.3    Jenq, S.F.4    Cheng, P.S.5    Jap, T.S.6
  • 4
    • 0013979505 scopus 로고
    • 17-hydroxylation deficiency in man
    • Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man. J Clin Invest 1966;45:1946-1954.
    • (1966) J Clin Invest , vol.45 , pp. 1946-1954
    • Biglieri, E.G.1    Ma, H.2    Brust, N.3
  • 8
    • 0842291524 scopus 로고    scopus 로고
    • Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency
    • Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group
    • Costa-Santos M, Kater CE, Auchus RJ; Brazilian Congenital Adrenal Hyperplasia Multicenter Study Group. Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency. J Clin Endocrinol Metab 2004;89:49-60.
    • (2004) J Clin Endocrinol Metab , vol.89 , pp. 49-60
    • Costa-Santos, M.1    Kater, C.E.2    Auchus, R.J.3
  • 9
    • 0035718922 scopus 로고    scopus 로고
    • Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency
    • Lam CW, Arlt W, Chan CK, Honour JW, Lin CJ, Tong SF, Choy KW, Miller WL. Mutation of proline 409 to arginine in the meander region of cytochrome p450c17 causes severe 17 alpha-hydroxylase deficiency. Mol Genet Metab 2001;72: 254-259.
    • (2001) Mol Genet Metab , vol.72 , pp. 254-259
    • Lam, C.W.1    Arlt, W.2    Chan, C.K.3    Honour, J.W.4    Lin, C.J.5    Tong, S.F.6    Choy, K.W.7    Miller, W.L.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.