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Turner综合征伴听力障碍发病机制的研究进展 被引量：1

Advance in Pathogenesis of Turner Syndrome Accompanied by Otological Problems
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摘要 Turner综合征(Turner Syndrome,TS)是常见的染色体病之一,典型的临床特征有身材矮小、性腺发育不良等。听力障碍也是其常见的症状之一,它主要包括中耳炎和感觉神经性耳聋这两种类型。其发病机制可能涉及雌激素、染色体、基因等方面。 Turner Syndrome is one of common chromosomal disease, with typical clinical features such as short stature,gonadal dysgenesis and so on. Hearing problem can also be one of its common symptoms,including otitis media and sensorineural hearing loss. Its pathogenesis may involve estrogen,chromosomes,genes and so on.
作者 于秀妍 臧鸿斌 贺薇
机构地区 中国医科大学
出处 《中国现代医生》 2010年第21期14-15,17,共3页 China Modern Doctor
关键词 TURNER综合征 听力障碍 x染色体缺失 雌激素 Turner syndrome Hearing-impaired X chromosome deletion Estrogen
分类号 R596.1 [医药卫生—内科学]
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参考文献18

  • 1Clement M,SchiUer S,Rao E,et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome[J]. Hum Mol Genet,2000,9:695-702.
  • 2P Saenger,H Nussbaum,B Lippe. Ophthalmological and otological problems in Turner syndrome [J]. nternational Congress Series,2006, 1298:49-57.
  • 3IJ. Dhooge. Otologic disease in turner syndrome[J]. Otology and Neurotology, 2005,26:145-150.
  • 4John H,Fish III,Ilona Schwentner,et al. Morphology Studies of the Human Fetal Cochlea in Turner Syndrome[J]. Ear&Hearing,2009,30: 143-146.
  • 5Meltser I,Tahera Y,Simpson E,et al. Estrogen receptor beta protects against acoustic trauma in mice[J]. Clin Invest,2008,118(4) :1563-1570.
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二级参考文献11

  • 1Munns C J,Haase H R,Crowther L M,et al.Expression of SHOX in human fetal and childhood growth plate[J].J Clin Endocrinol Metab,2004,89(9):4130-4135.
  • 2Rao E,Marchini A,Niesler B,et al.The Léri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator[J].Hum Mol Genet,2001,10 (26):3083-3091.
  • 3Marchini A,Marttila T,Winter A,et al.The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes[J].The Journal of Biological Chemistry,2004,279:3710337114.
  • 4Benito S S,Thomas N S,Huber C,et al.A novel class of pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis[J].Am J Hum Genet,2005,77(4):533-544.
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  • 6Ogata T,Inokuchi M,Ogawa M.Growth pattern and body proportion in a female with short stature homeobox-containing gene overdosage and gonadal estrogen deficiency[J].European Journal of Endocrinology,2002,147(2):249 254.
  • 7Fukami M,Matsuol N,Hasegawal T,et al,Longitudinal auxological study in a female with SHOX (short stature homeobox containing gene) haploinsufficiency and normal ovarian function[J].European Journal of Endocrinology,2003,149 (4):337-341.
  • 8Morizio E,Stuppia L,Gatta V,et al.Deletion of the SHOX gene in patients with short stature of unknown cause[J].Am J Med Genet,2003,119 (3):293 -296.
  • 9Stuppia L,Calabrese G,Gatta V,et al.SHOX mutations detected by FISH and direct sequencing in patients with short stature[J].J Med Genet,2003,40(2):E1 1.
  • 10Binder G,Ranke M B,Martin D D.Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature[J].J Clin Endocrinol Metab,2003,88(10):4891-4896.

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中国现代医生
2010年 第21期

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