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非典型21-羟化酶缺乏症临床诊治进展

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摘要 21-羟化酶缺乏（21-hydroxylase defect,21-OHD）是由于CYP21等位基因发生突变导致21-羟化酶缺乏所致最常见的先天性肾上腺皮质增生（congenital adrenal hyperplasia,CAH）的一种类型,是人类常见的常染色体隐性遗传性疾病,不同人种发病率不同,大致在1/15 000-1/9 000。既可以表现为经典的21-OHD（生前即有过多的雄激素,因此出生时即有雄激素过多的表现）,也可表现为非典型21-羟化酶缺乏症（nonclassic21-hydroxylase defect,NC21~OHD）,1957年由Jayle等首先描述,出生时无雄激素过多的临床表现,多于儿童期、
作者 苏文凌 戴斌 朱铁虹
机构地区 天津医科大学总医院内分泌科
出处 《疑难病杂志》 CAS 2014年第2期218-219,共2页 Chinese Journal of Difficult and Complicated Cases
关键词 21-羟化酶 先天性肾上腺皮质增生 17-羟孕酮
分类号 R725.8 [医药卫生—儿科]
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参考文献18

  • 1陆召麟,卢琳.先天性肾上腺皮质增生症:非经典型21羟化酶缺陷症的研究进展[J].内科急危重症杂志,2010,16(1):1-3. 被引量：12
  • 2Hiba Ali,Alaa Samkari,Haitham Arabi.Testicular adrenal rest "tumor" or Leydig cell tumor? A report of a challenging case with literature review[J].Avicenna Journal of Medicine.2013(1)
  • 3Perrin White,Tania Bachega.Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency: From Birth to Adulthood[J].Semin Reprod Med.2012(05)
  • 4Christine M. Trapp,Sharon E. Oberfield.Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update[J].Steroids.2011(4)
  • 5Tina Q. Cheng,Phyllis W. Speiser.Treatment Outcomes in Congenital Adrenal Hyperplasia[J].Advances in Pediatrics.2012(1)
  • 6Walter L. Miller,Selma Feldman Witchel.Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits[J].American Journal of Obstetrics and Gynecology.2012
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  • 8Selma Feldman Witchel,Ricardo Azziz.Congenital Adrenal Hyperplasia[J].Journal of Pediatric and Adolescent Gynecology.2011(3)
  • 9Gabriela P. Finkielstain,Wuyan Chen,Sneha P. Mehta,Frank K. Fujimura,Reem M. Hanna,Carol Van Ryzin,Nazli B. McDonnell,Deborah P. Merke.Comprehensive Genetic Analysis of 182 Unrelated Families with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency[J].The Journal of Clinical Endocrinology & Metabolism.2011(1)
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二级参考文献6

  • 1张波,陆召麟,王玥,陶红.非经典型21-羟化酶缺乏症基因型和临床特征[J].中华内分泌代谢杂志,2005,21(1):43-46. 被引量：13
  • 2陶红,陆召麟,张波,王玥,孙梅励.在汉族雄激素过多症女性中筛查非经典型21-羟化酶缺乏症[J].中华内分泌代谢杂志,2005,21(5):405-408. 被引量：4
  • 3Forest MG,Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.Human Reproduction Update,2004,10:469.
  • 4New Ml.Extensive clinical experience:nonclassical 21-hydroxylase deficiency.J Clin Endocrinol Metab,2006,91:4205.
  • 5Zhang B,Lu Zhao L,Wang Y,et al.Molecular characterization of mutations and phenotype/genotype:Correlation in chinese patients with 21 hydroxylase deficiency.Yi Chuan Xue Bao,2004,31:950.
  • 6Merke D,Keil M F,Jones J V,et al.Fhitamide,testolactone,and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia congenital adrenal hyperplasia with reduced risks of glucoeorticoid excess.J Clin Endoerinol Metab,2000,85:1114.

共引文献11

疑难病杂志
2014年 第2期

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