메뉴 건너뛰기




Volumn 17, Issue 1, 2011, Pages 99-103

P450C17 (CYP17) deficiency in native Mexican patient with a novel CYP17A1 mutation

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 17; CYTOCHROME P450 17A1; DEOXYCORTICOSTERONE; HYDROXYPROGESTERONE; UNCLASSIFIED DRUG;

EID: 79952403162     PISSN: 1530891X     EISSN: None     Source Type: Journal    
DOI: 10.4158/EP10135.CR     Document Type: Article
Times cited : (3)

References (14)
  • 1
    • 0035032081 scopus 로고    scopus 로고
    • The genetics, pathophysiology, and management of human deficiencies of P450c17
    • Auchus RJ. The genetics, pathophysiology, and management of human deficiencies of P450c17. Endocrinol Metab Clin North Am. 2001;30:101-119. (Pubitemid 32381716)
    • (2001) Endocrinology and Metabolism Clinics of North America , vol.30 , Issue.1 , pp. 101-119
    • Auchus, R.J.1
  • 3
    • 48949104210 scopus 로고    scopus 로고
    • The role of adrenal steroidogenesis in arterial hypertension
    • Mohaupt MG. The role of adrenal steroidogenesis in arterial hypertension. Endocr Rev. 2008;13:133-144.
    • (2008) Endocr Rev , vol.13 , pp. 133-144
    • Mohaupt, M.G.1
  • 4
    • 55749083620 scopus 로고    scopus 로고
    • Disorders of sex development
    • Kronemberg HM, Melmed S, Polonsky KS, Larsen PR. 11th ed. Philadelphia, PA: Saunders Elsevier
    • Achermann JC, Hughes IA. Disorders of sex development. In: Kronemberg HM, Melmed S, Polonsky KS, Larsen PR. Williams Textbook of Endocrinology. 11th ed. Philadelphia, PA: Saunders Elsevier, 2008: 816-818.
    • (2008) Williams Textbook of Endocrinology , pp. 816-818
    • Achermann, J.C.1    Hughes, I.A.2
  • 5
    • 0014865208 scopus 로고
    • Male pseudohermaphroditism due to 17 alphahydroxylase deficiency
    • New MI. Male pseudohermaphroditism due to 17 alphahydroxylase deficiency. J Clin Invest. 1970;49:1930-1941.
    • (1970) J Clin Invest , vol.49 , pp. 1930-1941
    • New, M.I.1
  • 6
    • 79952417653 scopus 로고    scopus 로고
    • Congenital adrenal hyperplasia
    • Kronemberg HM, Melmed S, Polonsky KS, PR Larsen. 11th ed. Philadelphia, PA: Saunders Elsevier
    • Stewart PM. Congenital adrenal hyperplasia. In Kronemberg HM, Melmed S, Polonsky KS, PR Larsen. Williams Textbook of Endocrinology. 11th ed. Philadelphia, PA: Saunders Elsevier, 2008: 485-494.
    • (2008) Williams Textbook of Endocrinology , pp. 485-494
    • Stewart, P.M.1
  • 8
    • 38049037834 scopus 로고    scopus 로고
    • Basic concepts and recent developments in human steroid hormone biosynthesis
    • Ghayee HK, Auchus RJ. Basic concepts and recent developments in human steroid hormone biosynthesis. Rev Endocr Metab Disord. 2007;8:289-300.
    • (2007) Rev Endocr Metab Disord , vol.8 , pp. 289-300
    • Ghayee, H.K.1    Auchus, R.J.2
  • 10
    • 0026081588 scopus 로고
    • 17 Alphahydroxylase/ 17,20-lyase deficiency: From clinical investigation to molecular definition
    • Yanase T, Simpson ER, Waterman MR. 17 alphahydroxylase/ 17,20-lyase deficiency: From clinical investigation to molecular definition. Endocr Rev. 1991;12:91-108.
    • (1991) Endocr Rev , vol.12 , pp. 91-108
    • Yanase, T.1    Simpson, E.R.2    Waterman, M.R.3
  • 12
    • 33744925428 scopus 로고    scopus 로고
    • Consensus statement on management of intersex disorders
    • Lawson Wilkins Pediatric Society/European Society for Paediatric Endocrinology Consensus Group
    • Hughes IA, Houk C, Ahmed SF, Lee PA; Lawson Wilkins Pediatric Society/European Society for Paediatric Endocrinology Consensus Group. Consensus statement on management of intersex disorders. J Pediatr Urol. 2006;2:148-162.
    • (2006) J Pediatr Urol , vol.2 , pp. 148-162
    • Hughes, I.A.1    Houk, C.2    Ahmed, S.F.3    Lee, P.A.4
  • 13
    • 70449527540 scopus 로고    scopus 로고
    • Loss of cytochrome P450 17A1 protein expression in a 17alphahydroxylase/ 17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene
    • Nájera N, Garibay N, Pastrana Y, et al. Loss of cytochrome P450 17A1 protein expression in a 17alphahydroxylase/ 17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene. Endocr Pathol. 2009;20:249-255.
    • (2009) Endocr Pathol , vol.20 , pp. 249-255
    • Nájera, N.1    Garibay, N.2    Pastrana, Y.3
  • 14
    • 33644784511 scopus 로고    scopus 로고
    • Consortium on the Management of Disorders of Sex Differentiation. Intersex Society of North American. Available at
    • Consortium on the Management of Disorders of Sex Differentiation. Clinical guidelines for the management of disorders of sex development in childhood. Intersex Society of North American. 2006. Available at: http://www.dsdguidelines.org.
    • (2006) Clinical Guidelines for the Management of Disorders of Sex Development in Childhood


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.