特纳综合征患者的染色体核型及临床表现特点

目的:分析特纳综合征(Turner syndrome,TS)患者的染色体核型及临床特点,以提高对此病的认识和诊疗水平,为早期发现特殊核型提供临床依据.方法:对确诊患者的临床表现、性激素水平、骨龄及染色体核型等进行分析和总结.结果:24例确诊为TS患者,首发临床表现均为身材矮小,有50％骨龄比实际年龄延后;50％具有TS典型体征,83.33％有促性腺激素水平明显偏高,50％未见卵巢组织;染色体核型分析提示33.33％为45,XO,50％为45X嵌合体,其余为其他类型;16.67％的患者有垂体瘤,8.33％有心血管结构异常,部分患者心电图有异常,8.33％有促甲状腺激素水平增高;PCR检测SRY基因均阴性,未发现Y染色质.结论:TS患者因细胞核型的不同,临床表现有所差异,且各种核型与临床表现有时并不完全相对应;对于矮小症女童,应常规行染色体核型分析;对于出现不能由传统核型分析鉴定的特殊染色体或者核型为45,XO的患者尽早行Y染色体检测,有利于发现异常的Y染色体,为是否需要预防性切除性腺提供依据.

Clinical features and chromosomal karyotype of Turner syndrome

Objective:To analyze the chromosomal karyotype and clinical features in patients with Turner syndrome (TS) in order to improve the acknowledge and diagnositic level of this disease and to provide clinical evidence for the early detection of the special karyotype in these patients.Methods:We analyzed and summarized the clinical manifestations,sex hormone levels,bone ages and chromosome karyotypes of the patients who had been diagnosed as TS.Results:Among 24 cases of patients who were diagnosed as TS,short stature was the first clinical manifestations,50％ of the patients had the bone ages delayed with their chronological ages;50％ of the patients had typical signs of TS,83.33％ of the patients had significantly higher levels of gonadotropin,50％ of the patients had no ovaries.Karyotypes of TS were analyzed,in which 33.33％ were 45,XO,50％ were 45X chimera,the rest were other types;16.67％ in all patients had pituitary adenomas,8.33％ with cardiovascular abnormalities,some patients had abnormal electrocardiogram,8.33％ of the patients had an increased level of thyroid stimulating hormone;PCR detection of SRY gene were negative,we did not find Y chromosome.Conclusion:In patients with TS,the clinical manifestations were different due to the different cell karyotypes,and the karyotypes and clinical manifestations were not completely corresponding.The chromosome detection should be done in all girls with short stature.For the patients with specific chromosomes which couldn't identified by traditional karyotype analysis,or which with the karyotype of 45,XO,detection of Y chromosome should be done as soon as possible.It will lead to the discovery of abnormal Y chromosome and provide the basis for deciding whether to need preventive resection gonads.