Turner综合征身材矮小原因探讨

The causes of short stature in Turner syndrome

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。

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.