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雄激素不敏感综合征的诊断现状和治疗 被引量:5

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摘要 性发育是由一系列特异性基因在不同时段诱导性腺分化的过程,其中任何一个调控环节出现异常均可导致不同表型的性别畸形[1]。2006年,欧洲儿科内分泌学会(ESPE)和美国劳森威尔金斯儿科内分泌学会(LWPES)联合发布的芝加哥共识,正式将先天因素导致的染色体、性腺和解剖学性别异常的疾病统称为"性发育异常"(disorders of sex development,DSD)[2,3],并将其分为性染色体、46,
出处 《中国循证儿科杂志》 CSCD 北大核心 2015年第5期376-380,共5页 Chinese Journal of Evidence Based Pediatrics
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  • 1Hughes IA. Disordet,s of sex development: a new definition and classification. Best Praet Res Clin Endocrinol Metab, 2008, 22(1) : 119-134.
  • 2Woodward M, Neilson A. Disorders of sex development. Surgery, 2010, 28(8) : 396-401.
  • 3Hughes IA, Houk C, Ahmed SF, et al. Consensus statement on management of intersex disorders. Arch Dis Child, 2006, 91(1): 554-563.
  • 4Oakes MB, Eyvazzadeh AD, Quint E, et al. Complete androgen insensitivity syndrome--a review. J Pediatr Adolesc Gynecol, 2008, 21(6) :305-310.
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  • 6Wilson JD, Harrod M J, Goldstein JL, et al. Familial incomplete male pseudohermaphroditism, type 1. Evidence for androgen resistance and variable clinical manifestations in a family with the Reifenstein syndrome. N Engl J Med, 1974, 290(20): 1097-1103.
  • 7Brown TR, Lubahn DB, Wilson EM, et al. Deletion of the steroid-binding domain of the human androgen receptor gene in one family with complete androgen insensitivity syndrome: evidence for further genetic heterogeneity in this syndrome. Proc Natl Acad Sci U S A, 1988 , 85(21) : 8151-8155.
  • 8Hiort O. Clinical and molecular aspects of androgen insensitivity. Endocr Dev, 2013, 24:33-40.
  • 9Davies HR, Hughes IA, Savage MO, et al. Androgen insensitivity with mental retardation: a contiguous gene syndrome. J Med Genet, 1997, 34(2) : 158-160.
  • 10Quigley CA. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev, 1995, 16(3):271- 321.

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