Brant William O, Rajimwale Ashok, Lovell Mark A, Travers Sharon H, Furness Peter D, Sorensen Mathew, Oottamasathien Siam, Koyle Martin A
Department of Urology, University of California, San Francisco, San Francisco, California 94143-0738, USA.
J Urol. 2006 May;175(5):1858-60. doi: 10.1016/S0022-5347(05)00932-8.
The presence of a Y chromosome in the extrascrotal gonad of patients with intersex disorders has been associated with a high risk of GB and, potentially, GCT. Recently, modern sophisticated genotyping has revealed a subgroup of TS cases with a mosaic karyotype expressing a Y chromosome. We sought to evaluate this group of patients and address their risk of gonadoblastoma.
We reviewed the records and genotyping of all females newly diagnosed with TS between 1990 and 2002 at Children's Hospital in Denver. All patients with TS and Y chromosome mosaicism underwent gonadectomy, and the specimens were evaluated for the presence of gonadoblastoma on histological analysis and to identify Y chromosome on genotyping.
A total of 192 girls with a clinical diagnosis of TS were identified between January 1990 and December 2002. Seven records were unavailable and 19 patients did not have karyotypic analyses available in the hospital charts. Of the remaining 166 patients 67 exhibited mosaic cell lines, of whom 8 had 45,X0/46,XY mosaic pattern and 59 had mosaic patterns without Y chromosomal elements. All 8 patients with Y mosaicism underwent uneventful laparoscopic gonadectomy on an outpatient basis. One patient observed to have bilateral dysgenetic gonads after gonadectomy was excluded from the study. Gonadoblastoma (bilateral 2 patients, unilateral 1) was detected in 3 of 7 patients (43%) with Y mosaicism.
In our series 4.8% of evaluable patients with TS carried a 45,X0/46,XY karyotype. Gonadoblastoma can be evident even at an early age in streak gonads with Y mosaicism and may be bilateral. We recommend prophylactic laparoscopic gonadectomy of streak gonads in patients with TS who carry a Y mosaic genotype, because fertility is not an issue, surgical morbidity is minor and there may be a high potential for malignant transformation of gonadoblastomas in this population.
两性畸形患者阴囊外性腺中存在Y染色体与发生性腺母细胞瘤（GB）及潜在的生殖细胞肿瘤（GCT）的高风险相关。最近，先进的现代基因分型揭示了一小部分具有表达Y染色体的嵌合核型的特纳综合征（TS）病例。我们试图评估这组患者并探讨他们发生性腺母细胞瘤的风险。
我们回顾了1990年至2002年期间在丹佛儿童医院新诊断为TS的所有女性患者的记录和基因分型。所有患有TS和Y染色体嵌合的患者均接受了性腺切除术，并对标本进行组织学分析以评估是否存在性腺母细胞瘤，并通过基因分型鉴定Y染色体。
1990年1月至2002年12月期间共确定了192例临床诊断为TS的女孩。7份记录缺失，19例患者的医院病历中没有核型分析结果。在其余166例患者中，67例表现出嵌合细胞系，其中8例具有45,X0/46,XY嵌合模式，59例具有无Y染色体成分的嵌合模式。所有8例Y染色体嵌合的患者均在门诊顺利接受了腹腔镜性腺切除术。1例在性腺切除术后被观察到双侧性腺发育不全的患者被排除在研究之外。在7例Y染色体嵌合的患者中，有3例（43%）检测到性腺母细胞瘤（双侧2例，单侧1例）。
在我们的系列研究中，4.8%可评估的TS患者携带45,X0/46,XY核型。在具有Y染色体嵌合的条索状性腺中，性腺母细胞瘤甚至在早期就可能明显，并且可能是双侧的。我们建议对携带Y染色体嵌合基因型的TS患者进行预防性腹腔镜条索状性腺切除术，因为生育不是问题，手术并发症少，并且该人群中性腺母细胞瘤发生恶性转化的可能性可能很高。
