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部分性雄激素不敏感综合征一例并家系报告 被引量:4

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摘要 患者(先证者,Ⅱ2)15岁,社会性别男性.因“双侧乳房增大3年”入院.患者足月顺产,出生时无产伤窒息史,出生时体重、身长正常,哭声好,吸吮、喂养可.出生时即发现双侧隐睾、尿道下裂.出生后,身高、体重增长同同龄儿,12岁起自觉双侧乳房增大,无溢乳,近1、2年出现阴茎晨间勃起,至今无变声、身高突长、遗精.出生后行双侧隐睾固定术.父母非近亲结婚.体检:身高160 cm,无喉结、无胡须及阴毛和腋毛,双侧乳房发育(Tanner 2期),乳头乳晕无明显色素沉着.尿道下裂(尿道口位于冠状沟),双侧睾丸体积约6ml,质软,阴茎长度约2.5 cm.
出处 《中华内科杂志》 CAS CSCD 北大核心 2014年第5期407-408,共2页 Chinese Journal of Internal Medicine
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  • 1Galani A, Kitsiou-Tzeli S, Sofokleous C, et al. Androgen insensitivity syndrome: clinical features and molecular defects [ J]. Hormones (Athens), 2008, 7:217-229. 被引量:1
  • 2Pizzo A, Lagant AS, Borrielli I, et al. Complete androgen insensitivity syndrome: a rare case of disorder of sex development [ J]. Case Rep Obstet Gynecol,2013 ,2013 :232696. 被引量:1
  • 3Douglas G, Axelrad ME, Brandt ML, et al. Consensus in Guidelines for Evaluation of DSD by the Texas Children's Hospital Multidisciplinary Gender Medicine Team [ J ]. Int J Pediatr Endocrinol, 2010,2010:919707. 被引量:1
  • 4Petroli R J, Maciel-Guerra AT, Soardi FC, et al. Severe forms of partial androgen insensitivity syndrome due to p. L830F novel mutation in androgen receptor gene in a Brazilian family[ J]. BMC Res Notes,2011,4:173. 被引量:1
  • 5Matias PM, Donner P, Coelho R, et al. Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations [ J ]. J Biol Chem, 2000, 275: 26164-26171. 被引量:1
  • 6Gottlieb B, Beitel LK, Nadarajah A, et al. The androgen receptor gene mutations database: 2012 update [ J ]. Hum Mutat,2012, 33 : 887-894. 被引量:1
  • 7卢建,王进,陈光椿,等.五个完全性雄激素不敏感综合征家系雄激素受体基因突变的研究[J].中华医学杂志,1999,79:444-445. 被引量:1
  • 8张曼娜,张惠杰,杨军,顾丽群,刘建民,王卫庆,宁光,李小英.雄激素受体基因新突变致雄激素不敏感综合征[J].中华内分泌代谢杂志,2009,25(1):58-61. 被引量:3
  • 9Matias PM, Donner P, Coelho R, et al. Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutations [ J ]. J Biol Chem, 2000, 275:26164-26171. 被引量:1
  • 10Tordjman KM, Yaron M, Berkovitz A, et al. Fertility after high- dose testosterone and intracytoplasmie sperm injection in a patient with androgen insensitivity syndrome with a previously unreported androgen receptor mutation [ J ]. Andrologia, 2013. [ 2014-01- 02 ]. http ://onlinelibrary. wiley, com/doi/10.1111/and. 12126/ full. [Epub ahead of print June 30,20131. 被引量:1

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