Mendes J R, Strufaldi M W, Delcelo R, Moisés R C, Vieira J G, Kasamatsu T S, Galera M F, Andrade J A, Verreschi I T
Department of Medicine, Universidade Federal de São Paulo, Escola Paulista de Medicina, Brazil.
Clin Endocrinol (Oxf). 1999 Jan;50(1):19-26. doi: 10.1046/j.1365-2265.1999.00607.x.
The frequency of gonadoblastoma is high in patients with Turner's syndrome bearing cells with Y or partial Y-chromosome. About 60% of patients with Turner's syndrome have a 45,X karyotype. In 30% of them a Y-sequence is disclosed by DNA analysis. To identify patients at risk of developing gonadoblastoma, a PCR based assay with SRY, ZFY and DYZ3 specific primers was carried out to detect different Y-sequences in the DNA of peripheral lymphocytes from patients with Turner's syndrome.
Peripheral blood karyotypes from 36 patients with Turner's syndrome were studied. Patients with proven Y-chromosomal material were excluded. Genomic DNA was extracted from peripheral blood. SRY and ZFY genes and DYZ3 repetion of Y-chromosome were amplified by PCR. Patients with clinical signs of hyperandrogenism or with positive Y-sequences by PCR underwent gonadectomy. The gonadal tissues were examined for Y-sequences using PCR, morphology and immunohistochemical study.
Turner's syndrome and signs of hyperandrogenism were evaluated both clinically and through laboratory tests. Haematoxylin and eosin staining was employed in gonadal morphology studies. The presence of testosterone was detected by immunohistochemistry using a monoclonal antibody.
Two patients who had Y-positive blood samples and three hyperandrogenic (2 hirsutes, 1 virilized) Y-negatives underwent gonadectomy. PCR was carried out on their gonadal tissue. The tissue from the two patients without hyperandrogenism was Y-positive. The gonadal tissue from the three hyperandrogenics was Y-negative. Gonadal morphology disclosed hilus cell hyperplasia in the 3 hyperandrogenic Y-negatives and in one Y-positive patient; stromal luteoma and hyperthecosis in the virilized patient, cystadenofibroma in one hirsute patient and gonadoblastoma in one Y-positive. Testosterone was detected immunohistochemically in the hilus cell hyperplasia, stromal luteoma and hyperthecosis found in the hyperandrogenic patients.
The molecular study was sensitive and useful in the evaluation of patients at risk of developing gonadoblastoma. Other nontumour, gonadotrophin-dependent and Y-independent mechanisms which deserve the same medical approach may be involved in the genesis of hyperandrogenic signs in Turner's syndrome.
患有特纳综合征且带有Y或部分Y染色体细胞的患者，性腺母细胞瘤的发病率较高。约60%的特纳综合征患者核型为45,X。其中30%经DNA分析发现有Y序列。为了识别有发生性腺母细胞瘤风险的患者，采用基于聚合酶链反应（PCR）的检测方法，使用SRY、ZFY和DYZ3特异性引物来检测特纳综合征患者外周血淋巴细胞DNA中的不同Y序列。
研究了36例特纳综合征患者的外周血核型。排除已证实有Y染色体物质的患者。从外周血中提取基因组DNA。通过PCR扩增SRY和ZFY基因以及Y染色体的DYZ3重复序列。有高雄激素血症临床体征或PCR检测Y序列呈阳性的患者接受性腺切除术。对性腺组织进行PCR、形态学和免疫组织化学研究以检测Y序列。
通过临床检查和实验室检测评估特纳综合征及高雄激素血症体征。性腺形态学研究采用苏木精-伊红染色。使用单克隆抗体通过免疫组织化学检测睾酮的存在。
两名Y序列血液样本呈阳性的患者以及三名高雄激素血症（2例多毛症、1例男性化）Y序列阴性的患者接受了性腺切除术。对他们的性腺组织进行了PCR检测。两名无高雄激素血症患者的组织Y序列呈阳性。三名高雄激素血症患者的性腺组织Y序列呈阴性。性腺形态学显示，三名高雄激素血症Y序列阴性患者和一名Y序列阳性患者有门细胞增生；男性化患者有间质黄体瘤和卵泡膜细胞增生，一名多毛症患者有囊腺纤维瘤，一名Y序列阳性患者有性腺母细胞瘤。在高雄激素血症患者的门细胞增生、间质黄体瘤和卵泡膜细胞增生中通过免疫组织化学检测到了睾酮。
分子研究对于评估有发生性腺母细胞瘤风险的患者敏感且有用。特纳综合征中高雄激素血症体征的发生可能涉及其他非肿瘤性、促性腺激素依赖性且与Y无关的机制，这些机制也应采用相同的医学处理方法。
