四川地区398例克氏综合征患者的临床特征分析
Clinical characteristics of 398 patients with Klinefelter syndrome in Sichuan
王念 1周汶静 1李美 1巫丽娟 1林立 1钟慧钰 1赵帆 1叶远馨1
作者信息
- 1. 610041 四川省成都市,四川大学华西医院
- 折叠
摘要
目的 分析四川地区克氏综合征(KS)患者临床特征,探讨染色体核型、临床症状、血清性激素水平在KS患者诊断中的临床应用价值及诊断意义.方法 对四川大学华西医院398例KS患者的主要临床症状、外周血染色体核型进行回顾性分析,同时对其中206例具有血清性激素结果的纯合型(47,XXY)KS患者和同期随机收集的180例染色体核型正常的男性对照组进行血清性激素水平比较分析.结果 398例KS患者中,年龄11～30岁,以21～30岁年龄段所占比例最高,占比61.05％.该类患者的临床来源以泌尿外科为主,共306例,占比76.89％.对334例具有明确临床症状信息的KS患者进行分组分析,其中以睾丸发育不良综合征(TDS)占比较高,为55.99％.在398例KS患者的染色体核型分析中纯合型(47,XXY)381例,占比 95.75％,嵌合型(47,XXY/46,XY)3 例/(47,XXY/46,XX)2 例,共占比 1.25％,变异型 12 例,占比 3.0％.在206例非嵌合型KS患者血清素卵泡生成素(FSH)、黄体生成素(LH)、泌乳素(PRL)及睾酮(T)水平分析中,KS组血清LH和FSH均明显高于正常对照组(P＜0.05),血清PRL在二组间差异无统计学意义(P＞0.05),而血清T水平明显低于对照组(P＜0.05).结论 四川地区KS患者以TDS为主要临床表现,以FSH、LH及T激素的改变最为明显.综合分析临床主要症状、染色体核型、血清性激素水平有助于提高KS患者的临床诊断效率.
Abstract
Objective To analyze the clinical characteristics of patients with Klinefelter syndrome(KS)in Si-chuan,and to explore the clinical application value and diagnostic significance of chromosomal karyotype,clini-cal symptoms and serum sex hormone levels in the diagnosis of KS patients.Methods A retrospective analy-sis of the main clinical symptoms and peripheral blood karyotypes of three hundred and ninety-eight patients with KS in West China Hospital of Sichuan University were conducted.Simultaneously,a comparative analysis of the serum sex hormone levels between 206 homozygous(47,XXY)KS patients with serum sex hormone results and a control group of 180 males with normal karyotype randomly collected during the same period were conducted.Results Among the 398 patients with KS,the age range was mainly concentrated in 11～30 years old group,with 21～30 years old group accounting for the highest proportion,accounting for 61.05％.At the same time,the clinical source of this type of patients is mainly urology,a total of 306 cases accounting for 76.89％.334 cases of KS patients with clear clinical symptom information were analyzed in groups,and the higher proportion of testicular dysplasia syndrome(TDS)was 55.99％.In the karyotype analysis of 398 KS patients,381 cases were homozygous(47,XXY),accounting for 95.75％,and 3&2 cases were mosaic(47,XXY/46,XY)and(47,XXY/46,XX),accounting for 1.25％and variant type 12 cases accounted for 3.0％.In 206 cases of non-chimeric KS patients with serotonin folliculin(FSH),luteinizing hormone(LH),prolactin(PRL)and testosterone(T)levels analysis,the KS group serum LH and FSH were all obvious higher than normal control group(P＜0.05),there was no significant difference in serum PRL between the two groups(P＞0.05),while the serum T level was significantly lower than control group(P＜0.05).Conclusion Patients with KS in Sichuan have TDS as the main clinical manifestation,with the most obvious changes in FSH、LH and T hormones.Comprehensive analysis of the main clinical symptoms,chromosomal karyotypes,and serum sex hormone levels can help improve the clinical diagnosis efficiency of KS patients.
关键词
克氏综合征/临床症状/染色体核型/性激素Key words
Klinefelter syndrome/Clinical symptoms/Chromosomal karyotype/Sex hormones引用本文复制引用
基金项目
四川省科技厅项目(21ZDYF1540)
四川大学华西医院专职博士后研发基金(2021HXBH009)
出版年
2024
NETL
NSTL
万方数据