性发育异常患者遗传学特点与临床表型分析

目的探讨染色体核型及SRY基因检测对性发育异常(DSD)的临床诊断价值。方法回顾性分析332例DSD的染色体核型、SRY基因和临床表型,染色体核型采用外周血淋巴细胞培养G显带分析,SRY基因采用PCR技术扩增。结果 332例DSD患者中检出异常核型100例,检出率为30.12%。在141例社会性别为男性的DSD患者中异常核型36例,其中26例47,XXY、1例47,XYY、2例47,XY,+mar、2例46,X,del(Y)、2例46,X,Yqh-、3例性反转(SRY基因阳性),临床表现为睾丸体积小、质硬,外生殖器畸形等。在191例社会性别为女性的DSD患者中异常核型64例,其中25例45,X、11例X染色体嵌合体异常、15例X染色体结构异常、1例47,XXX、1例47,XX,+mar、11例性反转(10例SRY基因阳性),临床表现为幼稚子宫等。结论性染色体数目和结构异常是导致性发育异常的主要原因,染色体核型联合SRY基因检测有助于DSD患者早期鉴别诊断,对患者的性别选择及临床治疗具有指导意义。

Genetic characteristics and clinical phenotype analysis of patients with disorders of sex development

Objective To investigate the clinical diagnosis value of karyotype and SRY gene detection in the diagnosis of sexual dysplasia(DSD). Methods The karyotype,SRY gene and clinical phenotype of 332 DSD were retrospectively analyzed. G display-zone technique for chromosome of peripheral lymphocytes was used to analysis the karyotype,and the PCR was used to detect the SRY gene. Results Among 332 patients with DSD,100 cases were chromosomal abnormalities,and the detection rate was 30. 12%. In 141 DSD male patients,36 chromosomal abnormalities were detected,including 26 cases of 47,XXY,1 case of 47,XYY,2 cases of 47,XY,+ mar,2 cases of 46,X,del(Y),2 cases of 46,X,Yqh-,and 3 cases of sex reversal(SRY gene-positive). Their clinical manifestations are small testicular volume,hard texture,and external genital malformation. In 191 female patients with DSD,64 cases of chromosomal abnormal karyotype were detected,including 25 cases of 45,X,11 cases of X chromosome chimera abnormalities,15 cases of X chromosome structural abnormalities,1 case of 47,XXX,1 case of 47,XX,+ mar,and 11 cases of sex reversal(10 cases of SRY gene positive). The clinical manifestations are secondary sexual dysplasia,immature uterus and so on. Conclusion Sex chromosome number and structural abnormality are the main causes of sexual dysplasia. The combination of karyotype and SRY gene is helpful for the early differential diagnosis,gender selection and clinical treatment in DSD patients.