The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis

SRY基因检测在性发育异常中的意义(英文)

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.

目的 探讨SRY基因检测在性发育异常中的意义。病例 对 16例性腺发育不全患者 :其中雄激素不敏感综合症 5例、17α羟化酶缺乏症 1例、真两性畸形 4例、4 5,X性腺发育不全 1例、XY单纯性腺发育不全 1例、睾丸退化 1例、血核型为 4 6 ,XY但已分娩正常儿 1例以及 4 5,X/4 6 ,XY性腺发育不全 2例。方法 采用多聚酶链式反应扩增SRY基因保守序列 ,对血和双侧性腺的SRY基因组标本进行检测。同时对一例血核型为 4 6 ,XY但已分娩正常儿的患者进行了SRY基因保守序列的测序。结果 在 16例患者中 15例血SRY阳性 ,其中 13例性腺中存在睾丸组织 (13/ 15=87% ) ,其余 2例未发现睾丸组织 ,性腺中为卵巢或纤维组织 ;SRY阴性的一例患者性腺中也发现了睾丸组织。有 3例患者SRY基因检测与性腺病理吻合 ,而与外周血白细胞染色体核型不符。SRY基因检测与性腺病理的符合率为 81.2 5% ,而外周血染色体核型是否有Y染色体与性腺病例的符合率为 6 8.75%。对一例血核型为 4 6 ,XY但已分娩正常儿的患者进行了SRY基因保守序列的测序未发现突变。结论 SRY基因测定比外周血染色体核型能够更为敏感和特异地预示有睾丸的存在。外周血染色体核型并不足以预示性腺的成份。本文的结果启示除SRY基因外可能存在发生睾丸的其它因子。