The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis
10.3760/j.issn:0366-6999.2001.02.004
- VernacularTitle:SRY基因检测在性发育异常中的意义
- Author:
Qi YU
1
;
Shangzhi HUANG
;
Lizhen YE
;
Ling FENG
;
Fangfang HE
;
Jue YE
;
Chunxia GU
;
Qinsheng GE
Author Information
1. 中国医学科学院/中国协和医科大学附属北京协和医院
- Keywords:
gonadal dysgenesis;
SRY gene;
polymerase chain reaction
- From:
Chinese Medical Journal
2001;114(2):128-131
- CountryChina
- Language:Chinese
-
Abstract:
Objective To clarify the role of sexual related Y (SRY) gene detection in the diagnosis of gonadal dysgenesis. Methods Sixteen cases of gonadal dysgenesis were included in this study: 5 with androgen insensitivity syndrome, 1 with 17-α-hydroxylase deficiency, 4 with true hermaphrodite, 2 with 45,X/46,XY gonadal dysgenesis, 1 with 45,X gonadal dysgenesis, 1 with XY pure gonadal dysgenesis, 1 with testicular regression, and 1 XY female who gave birth to a normal baby. SRY gene was detected by using polymerase chain reaction (PCR) in blood and gonad samples and by direct sequencing of the SRY motif. Results Among the 16 cases, 15 were blood SRY positive, among which 13 (86.7%) showed the presence of testicular tissue, and 2 showed ovaries without testicular tissue. One SRY negative case showed the presence of testicular tissue. In 3 cases, SRY detection in gonadal tissue correlated with pathological findings but not with blood karyotype. The correlation between peripheral blood SRY and the pathology of the gonads was 81.25% and the correlation between the presence of peripheral blood Y chromosome and pathology of the gonads was 68.75%. Sequencing of the SRY motif in an XY female who gave birth to a normal baby showed no mutation. Conclusions SRY detection is more sensitive and specific than blood karyotype in the prediction of the presence of testicular tissue. Peripheral blood karyotype does not necessarily reflect gonadal type. There may be testicular related factors other than the SRY gene.
