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目的探讨Turner患者的染色体异常、性激素与临床表型的关系。方法对我院2012年1月以来68例Tuener综合征女性儿童患者进行外周血染色体核型分析和性激素检查。结果 68例Turner综合征患者,进行了外周血染色体核型分析检查,其中X染色体数目异常36例(52.94%),X染色体结构异常24例(35.29%),X染色体数目及结构均异常7例(10.29%),含Y染色体46,XY 1例(1.47%)。Turner患者的FSH明显高于正常对照组,E_2和P明显低于正常对照组,LH和RPL无明显差异。结论结合临床体征、染色体和性激素检查可以为Turner患者寻找病因提供理论依据,而且有利于指导治疗。
Objective To investigate the relationship between chromosomal abnormalities, sex hormones and clinical phenotype in patients with Turner. Methods A total of 68 patients with Tuener syndrome in our hospital from January 2012 to January were analyzed by peripheral blood karyotypes and sex hormones. Results Sixty-eight patients with Turner’s syndrome were examined by karyotype analysis of peripheral blood. There were 36 cases (52.94%) with X chromosome abnormality, 24 cases (35.29%) with X chromosome abnormality, 7 cases with abnormal X chromosome number and structure (10.29%), Y chromosome 46, XY 1 case (1.47%). FSH in Turner patients was significantly higher than that in normal controls, E 2 and P were significantly lower than the normal control group, LH and RPL no significant difference. Conclusion Combined with clinical signs, chromosome and sex hormone tests can provide a theoretical basis for Turner patients to find the cause, and is conducive to guiding treatment.