Bianco Bianca, Lipay Mônica Vannucci Nunes, Melaragno Maria Isabel, Guedes Alexis Dourado, Verreschi Ieda T N
Division of Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, Brazil.
J Pediatr Endocrinol Metab. 2006 Sep;19(9):1113-7. doi: 10.1515/jpem.2006.19.9.1113.
The presence of Y chromosome fragments in patients with Turner's syndrome (TS) is known to increase the risk of gonadoblastoma. The investigation of Y sequences is usually performed only in the presence of marker chromosomes and therefore does not rule out the presence of hidden mosaicism in patients with 45,X TS without any marker.
Twenty patients with a 45,X karyotype were studied. The SRY and DYZ3 sequences were amplified by PCR, using genomic DNA from peripheral blood, oral epithelial cells and hair roots. Prophylactic gonadectomy was offered to the Y-positive patients.
The analysis of the different tissues revealed that seven (35%) out of the 20 patients studied presented hidden chromosome Y mosaicism. Four of these patients underwent prophylactic gonadectomy, and bilateral gonadoblastoma was found in one of them.
A systematic search for hidden Y chromosome mosaicism in patients with TS and 45,X karyotype is justified by the possibility of developing gonadoblastoma.
已知特纳综合征（TS）患者中Y染色体片段的存在会增加患性腺母细胞瘤的风险。Y序列的检测通常仅在存在标记染色体的情况下进行，因此无法排除无任何标记的45,X TS患者中隐藏的嵌合体的存在。
对20例核型为45,X的患者进行研究。使用外周血、口腔上皮细胞和发根的基因组DNA，通过聚合酶链反应（PCR）扩增SRY和DYZ3序列。对Y阳性患者进行预防性性腺切除术。
对不同组织的分析显示，在所研究的20例患者中，有7例（35%）存在隐藏的Y染色体嵌合体。其中4例患者接受了预防性性腺切除术，其中1例发现双侧性腺母细胞瘤。
鉴于TS和45,X核型患者有发生性腺母细胞瘤的可能性，对其进行系统的隐藏Y染色体嵌合体检测是合理的。
