CAJ | 학술논문

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。
목적：탐토선천성란소발육불전종합정（Turner，TS）환인신재왜소적원인。방법회고성분석2004년지2013년86례TS환인，분별안환인염색체단비결실류형、IGF-1강저정도、GH결핍급갑상선공능감퇴여부진행분조비교。결과 X염색체단비결실정도불동적삼조TS환인신고표준차분치（Ht SDS）분별위（-4.39±1.08）（、-3.26±1.25）（、-2.84±0.15），차이유통계학의의（P<0.05）；삼조생장격소결핍증（GHD）출현비례의차위62.5%、38.9%급0%，차이역유통계학의의（P<0.05）。IGF-1강저정도불동적TS환인Ht SDS분별위（-4.37±1.10）（、-3.82±1.07）급（-3.25±0.91），차이유통계학의의（P<0.05）。반유혹불반유GH결핍이급갑상선공능감퇴적환인지간，Ht SDS차이균무통계학의의（P>0.05）。결론 X염색체단비결실대TS환인신재왜소기중요작용。TS환인적GH-IGF-1축수영향，단GH결핍여갑상선공능감퇴여환인왜소무관。
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.