特纳综合征病例报告和文献综述

Pingping Chen
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引用次数: 0

摘要

特纳综合征(Turner syndrome,TS)又称先天性卵巢发育不良综合征,是最常见的女性染色体异常,在活产女孩中的发病率为 1/2 000~1/2 500。特纳综合征的主要临床表现为脊柱躯干异常、生长发育迟缓、性发育不良和特殊体征,以及性激素异常、生长激素异常、血脂异常等。本文结合文献综述,对一名特纳综合征患儿的临床特征和检查结果进行了总结和分析,以期提高对特纳综合征的认识和临床诊治水平。
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A Case Report of Turner Syndrome and Literature Review
Turner syndrome (TS), also known as congenital dysplasia of ovary syndrome, is the most common female chromosomal abnormality, and the incidence of live birth girls is 1/2 000 ~ 1/2 500. The main clinical manifestations of Turner syndrome are spinal trunk abnormality, growth retardation, sexual dysplasia and special physical characteristics, and abnormal sex hormone, abnormal growth hormone, dyslipidemia, etc. This article summarized and analyzed the clinical characteristics and test results of a child with Turner syndrome, combined with literature review, in order to improve the understanding of Turner syndrome and clinical diagnosis and treatment.
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