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目的探讨Turner综合征患者的染色体核型异常与内分泌激素异常、发育异常和骨龄落后的关系。方法对61例Turner综合征患者进行染色体核型分析、内分泌激素六项检测、B超检查及身高评价。选择同期健康体检人群作为对照组。结果 Turner综合征染色体核型各异,患者表现为身材矮小和躯体畸形,B超检查患者无子宫和/或卵巢,与正常对照组相比发育明显落后(P<0.01);患者血清FSH、LH明显高于对照组,E2、P低于对照组,PRL、T无明显差异;身高及骨龄明显落后。结论 Turner综合征的染色体核型与患者临床表现相关,骨龄落后和身材矮小可能与SHOX基因缺乏、雌激素缺乏有关。
Objective To investigate the relationship between chromosomal abnormalities and abnormalities of endocrine hormones, dysplasia and bone age in patients with Turner’s syndrome. Methods 61 cases of Turner syndrome were analyzed by karyotype analysis, six endocrine hormones, B ultrasound examination and height evaluation. Select the same period the health examination population as a control group. Results Turner syndrome karyotypes were different, the patients showed short stature and somatic deformity. The patients with B-ultrasound had no uterus and / or ovary, which lagged significantly compared with the normal control group (P <0.01). Serum FSH, LH Significantly higher than the control group, E2, P lower than the control group, PRL, T no significant difference; height and bone age was significantly behind. Conclusions Turner syndrome is associated with the clinical manifestations of patients with karyotypes, and the backward age and short stature may be related to the lack of SHOX gene and the lack of estrogen.