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矮小症31例临床分析
引用本文:云素芳,苏秀兰,闫朝丽,李彩萍,侯俊秀,邱琳,皇甫建. 矮小症31例临床分析[J]. 疑难病杂志, 2013, 12(3): 209-211
作者姓名:云素芳  苏秀兰  闫朝丽  李彩萍  侯俊秀  邱琳  皇甫建
作者单位:1. 内蒙古医科大学内分泌学专业,呼和浩特,010059
2. 内蒙古医科大学临床试验中心,010050
3. 内蒙古医科大学附属医院内分泌科,010050
摘    要:目的分析矮小症的临床特征。方法对2010年7月—2012年8月收治的31例矮小症患者的临床资料进行回顾性分析。结果 31例矮小症患者中,甲状腺功能减低症10例(32.26%),包括原发性甲状腺功能减退6例和继发性甲状腺功能减退4例;特发性生长激素缺乏症(IGHD)8例(25.81%);特发性矮小(ISS)3例(9.68%);先天性卵巢发育不全(TS)3例(9.68%);软骨发育不全(ACH)2例(6.45%);体质性青春期发育延迟3例(9.68%);先天愚型1例(3.23%);Silver-Russell综合征1例(3.23%)。结论矮小症病因复杂,临床表现各异,确诊困难。故对于矮小患者应详细询问病史,完善各项检查,以便早诊断、早治疗。

关 键 词:矮小症  临床特征  分析

The clinical analysis of 31 cases of short stature
Affiliation:YUN Su-fang* , SU Xiu-lan, YAN Zhao-li, et al. * Department of Endocri- nology,lnner Mongolia Medical University, Hohhot 010050, China
Abstract:Objective To explore the clinical features of short stature. Methods The clinical data of 31 cases with short stature who admitted to the hospital from July,2010 to August,2012 were collected, then retrospectively reviewed these data. Results Among 31 cases of short stature, there were 10 cases with hypothyroidism, accounting for 32.26%, containing 6 cases of primary hypothyroidism ( TSH 〉 100 μU/ml) and 4 cases of secondary hypothyroidism (4.87 μU/ml 〈 TSH 〈 10.00 μU/ml) ; 8 cases of IGHD (two growth hormone stimulation test: GH were less than 10 ng/ml), accounting for 25.81% ; 3 cases of ISS ( a kind of exclusion diagnosis), accounting for 9.68% ; 3 cases of TS[ karyotype analysis : 2 cases of 45, X/46, X, i (Xq), 1 case of 46, X, i (Xq) ] ,accounting for 9.68% ; 2 cases of ACH (large head, wide face, short limb, fingers in a "Trident" ), accounting for 6.45% ; 3 cases of constitutimal delay of puberty, accounting for 9.68% ; 1 case of Down~ syndrome, accounting for 3.23% ; 1 case of Silver-Russell syndrome, accounting for 3.23%. Conclusion The causes of short stature are complex, having different clinical manifestations, and diagnosis is more difficult. It should be asked in detail about the history, and complete various examination tests for early diagnosis and early treatment.
Keywords:Short stature  Clinical feature  Analysis
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