期刊文献+

17α-羟化酶缺乏症1例报道及文献回顾 被引量:2

下载PDF
导出
摘要 1 临床资料 患者女性,14岁3月,主因"因双侧乳腺一直未发育,月经未来潮"就诊,门诊初步查体:血压165/96mmHg,身高152cm。体格发育较健壮,智力发育正常,双乳未发育,乳晕色素稍偏黑,PH1期,女性外生殖器、皮肤粘膜无特别加深,无齿龈色素沉着。
出处 《南方医科大学学报》 CAS CSCD 北大核心 2010年第4期797-798,共2页 Journal of Southern Medical University
  • 相关文献

参考文献8

  • 1Matteson K J, Picado-Leonard J, Chung BC, et al. Assignment of the gene for adrenal P450c 17 (steroid 17a-hydroxylase/17, 20 lyase) to human chromosome 10 [J]. J Clin Endoerinol Metab, 1986, 63: 789-91.
  • 2Zuber MX, Simpson ER, Waterman MR. Expression of bovine 17 alpha hydroxylase cytochrome P2450 cDNA in non 2 steroidogenic (COS 1) cells[J]. Science, 1986, 234(4781): 1258-61.
  • 3林加峰.17α-羟化酶缺乏症误诊1例.浙江医学,1996,19(6):336-336.
  • 4Biglieri EG, Herron MA, Brust N. 17-hydroxylation deficiency in man[J]. J Clin Invest,1966, 45: 1946-54.
  • 5杨军,李小英,孙首悦,乔洁,赵咏桔,刘建民,宁光,许曼音,陈家伦.10例17α羟化酶/17,20碳链裂解酶缺陷症临床和遗传学研究[J].上海交通大学学报(医学版),2006,26(1):17-21. 被引量:22
  • 6陶红,陆召麟,张波,王玥,孙梅励.17α-羟化酶/17,20-裂解酶缺陷症的临床特点及长期随诊资料分析[J].中华内科杂志,2005,44(6):442-445. 被引量:32
  • 7Miura K, Yasuda K, Yanase T, et al. Mutation of cytochrome P-450 17α gene (CYP17) in a Japanese patient previously reported as having glucocorticoid2-responsive hyperaldosteronism: with a review of Japanese patients with mutations ofCYP17 [J]. J Clin Endocrinol Metab, 1996, 81: 37971801.
  • 8ZachmannM, Vollmin JA, HamiltonW, et al. Steroid 17, 202des2 molase deficiency: a new cause of male pseudohermaphroditism [ J ]. Clin Endocrinol (Oxf), 1972, 1: 369-85.

二级参考文献21

  • 1陶红,陆召麟,张波,王玥,孙梅励.17α-羟化酶/17,20-裂解酶缺陷症的临床特点及长期随诊资料分析[J].中华内科杂志,2005,44(6):442-445. 被引量:32
  • 2陆召磷,宋文英,张平,郭爱丽,张洁萍.17α-羟化酶缺陷症的诊断和治疗──13例临床经验[J].中华内分泌代谢杂志,1994,10(4):195-197. 被引量:10
  • 3[1]Biglieri EG,Herron MA,Brust N.17-hydroxylation deficiency in man[J].J Clin Invest,1966,45(12):1946-1954.
  • 4[2]Qiao J,Hu RM,Peng YD,et al.A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20- lyase deficiency in three Chinese sisters[J] Mol Cell Endocrinol,2003,201(1-2):189-195.
  • 5[3]Zuber MX,Simpson ER,Waterman MR.Expression of bovine 17 alphahydroxylase cytochrome P-450 cDNA in non- steroidogenic (COS 1) cells[J].Science,1986,234(4781):1258-1261.
  • 6[5]Chung BC,Picado-Leonard J,Haniu M,et al.Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase):cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues.[J] Proc Nat Acad Sci,1987,84(2):407-411.
  • 7[6]Fan YS,Sasi R,Lee C,et al.Localization of the human CYP17 gene (cytochrome P450-17-alpha) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding[J] Genomics,1992,14(4):1110-1111.
  • 8[7]Picado-Leonard J,Miller WL.Structure of the human P450c17 gene is closely related to the P450c21 gene[A].Am J Hum Genet,1987,41(2):234.
  • 9[8]Kagimoto M,Winter JS,Kagimoto K,et al.Structural characterization of normal and mutant human steroid 17-alpha -hydroxylase genes:molecular basis of one example of combined 17-alpha-hydroxylase/17,20 lyase deficiency[J].Mol Endocrinol,1988,2(6):564-570.
  • 10[11]Imai T,Yanase T,Waterman MR,et al.Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency[J].Hum Genet,1992,89(1):95-96.

共引文献45

同被引文献16

引证文献2

二级引证文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部