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特纳综合征(性腺发育不全)的临床表现和诊断

Author
Paul Saenger, MD, MACE
Section Editors
Peter J Snyder, MD
John L Kirkland, MD
Helen V Firth, DM, FRCP, DCH
Deputy Editors
Kathryn A Martin, MD
Alison G Hoppin, MD

引言

Turner综合征(Turner syndrome, TS，又称特纳综合征)是导致女孩身材矮小及年轻女性原发性闭经的一个重要病因，通常由一条X染色体的部分或全部缺失所引起。TS的临床表现和诊断总结在此。该病的治疗将单独讨论。 (参见“Turner综合征(性腺发育不全)的治疗”)

发病率

TS首次报道于1938年[1]，它是最常见的性染色体异常，其在活产女婴中的发病率约为1/2500[2]。TS的实际患病率很难确定，因为临床表现较轻的患者可能一直未得到诊断[3]。

发病机制

分子学研究表明，2/3的TS患者保留了母源X染色体，其余1/3的患者则保留父源X染色体[4]。超过半数的TS患者核型为嵌合型(例如，45,X/46,XX)[5,6]。在胎膜组织中嵌合一个正常核型的细胞系对于维持足够的胎盘功能和胎儿存活也许是必需的[7]。

嵌合体核型的检出直接依赖于检测方法。不同检测方法的检出率不同，传统细胞遗传学技术的检出率为34%，荧光原位杂交技术为60%，而在一项采用逆转录酶聚合酶链反应分析的研究中，检出率达74%[8]。

一些TS患者仅有单条性染色体的部分缺失，也可有多种染色体结构异常，如环状染色体、等臂染色体或末端缺失。一类罕见但能提供有用信息的TS是由于Y染色体缺失而没有睾丸决定基因，即Y基因性别决定区(sex-determining region, SRY)所引起；这些患者发育为女性。基于这一发现及男性的正常发育仅需要一条X染色体的事实，Ferguson-Smith推测TS基因在Y染色体上也有一份拷贝。

                        

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Literature review current through: 2017-06 . | This topic last updated: 2016-10-03.
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