Turner综合征身材矮小原因探讨

摘要

Objectives To investigate the causes of short stature in Turner syndrome (TS). Methods 86 patients were di-agnosed with TS by karyotypes from 2004 to 2013. According to the deletion types of the X chromosome short arm, growth hor-mone (GH), insulin-like growth factor-1 (IGF-1) and thyroid function, the TS patients were divided into different groups and com-parison was made among groups. Results Ht SDS in three groups with different extent of the deletion of the X chromosome short arm were (-4.39±1.08), (-3.26±1.25) and (-2.84±0.15) (P<0.05). The proportion of growth hormone deifciency (GHD) in the three groups were 62.5%, 38.9%and 0%(P<0.05). Ht SDS in groups with different degree of IGF-1 level were (-4.37±1.10), (-3.82±1.07) and (-3.25±0.91) (P<0.05). There was no signiifcant difference of Ht SDS between hypothyroidism patients with and without GHD (P>0.05). Conclusions The deletion of X chromosome short arm may cause the short stature in TS. The GH-IGF-1 axis in TS is impaired, but GHD is not related to short stature in TS.%目的：探讨先天性卵巢发育不全综合征（Turner，TS）患儿身材矮小的原因。方法回顾性分析2004年至2013年86例TS患儿，分别按患儿染色体短臂缺失类型、IGF-1降低程度、GH缺乏及甲状腺功能减退与否进行分组比较。结果 X染色体短臂缺失程度不同的三组TS患儿身高标准差分值（Ht SDS）分别为（-4.39±1.08）（、-3.26±1.25）（、-2.84±0.15），差异有统计学意义（P<0.05）；三组生长激素缺乏症（GHD）出现比例依次为62.5%、38.9%及0%，差异亦有统计学意义（P<0.05）。IGF-1降低程度不同的TS患儿Ht SDS分别为（-4.37±1.10）（、-3.82±1.07）及（-3.25±0.91），差异有统计学意义（P<0.05）。伴有或不伴有GH缺乏以及甲状腺功能减退的患儿之间，Ht SDS差异均无统计学意义（P>0.05）。结论 X染色体短臂缺失对TS患儿身材矮小起重要作用。TS患儿的GH-IGF-1轴受影响，但GH缺乏与甲状腺功能减退与患儿矮小无关。