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垂体柄阻断综合征3例

Pituitary stalk interruption syndrome:3 cases report
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摘要 例1,男,18岁,以“发育迟缓2年”为主诉入院。查体:身高170 cm,上部量与下部量之比0.95,指尖距基本与身高相等,无胡须,无喉结,未变声,无腋毛,阴茎长7 cm,睾丸体积左8 ml、右7 ml,Tanner分期G2期,阴毛分布范围限于阴茎根部,Tanner分期P2期。听觉和嗅觉正常,无尿崩症状,无相关家族遗传病史。
作者 邢川 王艳军
出处 《疑难病杂志》 CAS 2018年第9期952-953,962,共3页 Chinese Journal of Difficult and Complicated Cases
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  • 1Guo Q, Yang Y, Mu Y, et al. Pituitary stalk interruption syndrome in Chinese people : clinical characteristic analysis of 55 cases[J]. PLoS One, 2013, 8 (1) :e53579. DOI: 10. 1371/ journal, pone. 0053579.
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  • 6Yang Y, Guo QH, Wang BA, et al. Pituitary stalk interruption syndrome in 58 Chinese patients: clinical features and genetic analysis[Jl. Clin Endocrinol (Oxf) ,2013,79(1 ) :86-92. DOI: 10.1 lll/cen. 12116.
  • 7Reynaud R, Albarel F, Saveanu A, et al. Pituitary stalk interruption syndrome in 83 patients: novel HESXI mutation and severe hormonal prognosis in malformative forms [ J ]. Eur J Endocrinol, 2011, 164 (4) :457-465. DOI: 10. 1530/EJE-10- 3892.
  • 8Sykiotis GP, Hoang XH, Avbelj M, et al. Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes [ J ]. J Clin Endocrinol Metab, 2010, 95 (6) : 3019-3027. DOI: 10. 1210/jc. 2009- 2582.
  • 9伍学焱,聂敏,卢双玉,茅江峰.曲普瑞林兴奋试验在评价男性下丘脑-垂体-性腺轴功能中的价值[J].中华医学杂志,2011,91(10):679-682. 被引量:15
  • 10邵为民,白文俊,陈益民,刘磊,王玉杰.微量泵脉冲输注戈那瑞林治疗垂体柄中断综合征性腺功能减退病例分析及文献回顾[J].北京大学学报(医学版),2014,46(4):642-645. 被引量:1

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