Turner综合征患者185例染色体核型及临床特征

Karyotypes and clinical characteristics of 185 cases with Turner syndrome

目的分析Turner综合征(TS)患者的染色体核型和主要临床特征,探究染色体核型与临床特征间的关系。方法对TS患者185例的染色体核型和典型临床指征进行分析,并测定其中80例患者的卵泡雌激素(FSH)和黄体生成素(LH),与50例健康对照组比较。结果 185例患者的染色体核型主要分6种:单体型、嵌合体型、X等臂型、X部分缺失型、X(假)双着丝粒型和环状X型;患者普遍有闭经、身材矮小、肘外翻等体征;80例患者的FSH水平及LH水平均高于对照组。结论对于生长明显滞后等特征的女孩,应尽早施行染色体核型检测,确诊后尽早进行激素治疗。积极开展产前筛查和产前诊断以避免此类患儿出生,显得尤为重要。

Objective To analyze the karyotypes and main clinical characteristics of Turner syndrome(TS)cases and explore their relationship.Methods The karyotypes and typical clinical indicators of 185 cases with TS were analyzed.In the 183 cases,follicle stimulating hormone(FSH)and luteinizing hormone(LH)were measured for 80 cases and compared with healthy women(50 cases for control group).Results The karyotypes of 185 cases may be divided into main six types:haplotype,mosaic,X-isochromosome,X-deletion,pseudodicentric and ring X chromosomes.The cases generally showed the signs with amenorrhea,short stature and elbow valgus.The levels of FSH and LH in 80 cases were higher than those of control group.Conclusion Chromosome karyotype should be early detected for the girls with significant delayed growth,and hormonotherapy should be carried out after definite diagnosis.It is important that prenatal screening and diagnosis should be actively carried out to avoid the birth of such kinds of children.