期刊文献+
任意字段
题名或关键词
题名
关键词
文摘
作者
第一作者
机构
刊名
分类号
参考文献
作者简介
基金资助
栏目信息

17α羟化酶/17,20碳链裂解酶缺陷症研究进展 被引量：6

Advances of the Research on 17α Hydroxylase/17,20 Lyase Deficiency
暂未订购
导出
摘要 17α羟化酶/17,20碳链裂解酶缺陷症(17OHD)是先天性肾上腺增生的少见类型。临床主要表现为低肾素性高血压、低血钾,女性性幼稚、原发性闭经及男性假两性畸形。本文将就17OHD发生的病理生理和分子遗传学机制,以及部分少见类型的临床特点进行综述。 17α hydroxylase/17,20 lyase deficiency （17OHD） is a rare autosomal recessive disorder, characterized by severe hypertension,hypokalemia,sexual infantilism in female, primary amenorrhea, and pseudo hermaphroditism in male. It is caused by mutation in CYP17A1 gene. We herein review the pathophysiology, molecular genetics, and some rare types of 17OHD.
作者 杨军 李小英
机构地区 上海交通大学医学院瑞金医院内分泌代谢病科上海市内分泌代谢临床医学中心上海市内分泌代谢病研究所
出处 《上海交通大学学报（医学版）》 CAS CSCD 北大核心 2006年第1期13-16,共4页 Journal of Shanghai Jiao tong University:Medical Science
基金 上海市教委重点学科基金(E03007)资助项目
关键词 17α羟化酶/17 20碳链裂解酶缺陷症 CYP17A1基因 基因突变 肾上腺增生 先天性 17α hydroxylase/17,20 lyase deficiency CYP17A1 gene gene mutation adrenal hyperplasia congenital
分类号 R586 [医药卫生—内分泌] R394.4 [医药卫生—医学遗传学]
  • 相关文献

参考文献27

  • 1[1]Biglieri EG,Herron MA,Brust N.17-hydroxylation deficiency in man[J].J Clin Invest,1966,45(12):1946-1954.
  • 2[2]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.
  • 3[3]Monno S,Ogawa H,Date T,et al.Mutation of histidine 373 to leucine in cytochrome P450c17 causes 17 alpha- hydroxylase deficiency[J].J Biol Chem,1993,268 (34):25811-25817.
  • 4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
  • 5[5]Takeda Y,Yoneda T,Demura M,et al.Genetic analysis of the cytochrome P-450c17alpha (CYP17) and aldosterone synthase (CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency[J].Clin Endocrinol (Oxf),54(6):751-758.
  • 6[6]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 Natl Acad Sci U S A,1987,84(2):407-411.
  • 7[7]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[8]Picado-Leonard J,Miller WL.Structure of the human P450c17 gene is closely related to the P450c21 gene[J].Am J Hum Genet,1987,41:234.
  • 9[9]Voutilainen R,Miller WL.Developmental expression of genes for the stereoidogenic enzymes P450scc (20,22-desmolase),P450c17 (17 alpha-hydroxylase/17,20-lyase),and P450c21 (21-hydroxylase) in the human fetus[J].J Clin Endocrinol Metab,63(5):1145-1150.
  • 10[10]Winter JS,Couch RM,Muller J,et al.Combined 17-hydroxylase and 17,20-desmolase deficiencies:evidence for synthesis of a defective cytochrome P450c17[J].J Clin Endocrinol Metab,1989,68(2):309-316.

二级参考文献6

  • 1Chung 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. Proc Nat Acad Sci U S A, 1987,84: 407-411.
  • 2Yanase T, Simpson ER, Waterman MR. 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. Endocr Rev, 1991, 12: 91-108.
  • 3Singhellakis PN, Panidis D, Papadimes J, et al. Spontaneous sexual development and menarche in a female with 17alpha-hydroxylase deficiency. J Endocrinol Invest, 1986, 9: 177-183.
  • 4Takeda Y, Yoneda T, Demura M, et al. Genetic analysis of the cytochrome P-450c17 alpha(CYP17) and aldosterone synthase(CYP11B2) in Japanese patients with 17alpha-hydroxylase deficiency. Clin Endocrinol (Oxf), 2001, 54:751-758.
  • 5Yamakita N, Murase H, Yasuda K, et al. Possible hyperaldosteronism and discrepancy in enzyme activity deficiency in adrenal and gonadal glands in Japanese patients with 17alpha-hydroxylase deficiency. Endocrinol Jpn, 1989, 36:515-536.
  • 6Miura K, Yasuda K, Yanase T, et al. Mutation of cytochrome P45017 alpha gene(CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutation of CYP17. J Clin Endocrinol Metab, 1996, 81: 3797-3801.

共引文献31

同被引文献53

引证文献6

二级引证文献13

上海交通大学学报（医学版）
2006年 第1期

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