181例Turner综合征染色体核型分析与性激素检测

Karyotype analysis and levels of serum gonadotropins in children with Turner's syndrome

目的分析Turner综合征患儿染色体不同核型的遗传学特征及其与性激素水平的关系。方法将181例Turner综合征患儿根据染色体核型分成3组进行统计分析,并对其中75例测定性激素患儿与30例健康女孩血清性激素水平进行比较,并作对照统计分析。结果 181例Turner综合征中检出45,X核型84例(46.4%),嵌合型25例(13.8%),X染色体结构畸变72例(39.8%);45,X核型和结构畸变核型组患儿血清中促卵泡生成素(FSH)和促黄体生成素(LH)浓度明显高于对照组(P<0.05),嵌合体核型与对照组差异则无统计学意义;45,X核型组中有4例患儿血清FSH、LH处于正常水平。结论对于青春前期的生长落后女性患儿建议常规进行染色体核型分析,以排除染色体异常或明确诊断。多数TS患儿伴有血清性激素水平的异常。不同核型对性激素水平影响明显,性激素水平检测对了解Turner综合征患儿生殖内分泌状态非常必要,可以为激素替代治疗提供依据。

Objective To analyze the relationship between the level of serum gonadotropins and karyotypic aberrations of children with Turner＇s syndrome.Methods 181 cases of Turner syndrome were divided into 3 groups according to their chromosome karyotype.The levels of serum gonadotropins in 75 subjects were compared with 30 normal healthy subjects in the control group.Results 84 cases were 45,X （46.4%）,25 cases were mosaic （13.8%）,and 72 cases were X chromosome abnormality （39.8%）.The serum levels of gonadotropins in group-1 （45,X） and group-3 （X chromosome abnormality） were higher than that in the control group（P0.05）.Conclusion Female subjects with short stature should have examination on their chromosome karyotype and the monitoring on the serum levels of gonadotropins.Understanding the level of serum gonadotropins is important in hormonal replacement therapy in girl with Turner＇s syndrome.