Department of Pediatrics, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic.
Sex Dev. 2010 Sep;4(4-5):259-69. doi: 10.1159/000314536. Epub 2010 Jun 17.
Certain patients with disorders of sex development (DSD), who bear Y chromosome material in their karyotype, are at increased risk for the development of type II germ cell tumors (GCT), which arise from early fetal germ cells. DSD gonads frequently harbor immature germ cells which express early fetal germ cell markers. Some of them (e.g. OCT3/4 and NANOG) seem to be of pathogenetic relevance in GCT development providing cells with the ability of pluripotency, proliferation and apoptosis suppression. Also TSPY (testis-specific protein Y-encoded), the main candidate for the so-called gonadoblastoma locus on Y chromosome, is overexpressed in germ cells of DSD patients and possibly contributes to their survival and proliferation. Nowadays, the use of immunohistochemical methods is highly relevant in identifying DSD gonads at risk. The risk for GCT development varies. While the prevalence of GCT is 15% in patients with partial androgen insensitivity, it may reach more than 30% in patients with gonadal dysgenesis. Patients with complete androgen insensitivity and ovotesticular DSD develop malignancies in 0.8% and 2.6% of cases, respectively. However, these data may be biased for various reasons. To better estimate the risk in individual groups of DSD, further investigations on large patient series are needed.
某些性发育障碍（DSD）患者的核型中存在 Y 染色体物质，他们患 II 型生殖细胞肿瘤（GCT）的风险增加，这种肿瘤来源于早期胎儿生殖细胞。DSD 性腺中经常存在未成熟的生殖细胞，这些细胞表达早期胎儿生殖细胞标志物。其中一些标志物（例如 OCT3/4 和 NANOG）似乎与 GCT 发展的发病机制有关，为细胞提供了多能性、增殖和凋亡抑制的能力。此外，TSPY（编码睾丸特异性蛋白 Y），即 Y 染色体上所谓的性腺母细胞瘤基因座的主要候选基因，在 DSD 患者的生殖细胞中过度表达，可能有助于它们的存活和增殖。如今，免疫组织化学方法在识别具有风险的 DSD 性腺方面非常重要。GCT 发展的风险各不相同。虽然部分雄激素不敏感患者的 GCT 患病率为 15%，但性腺发育不良患者的患病率可能超过 30%。完全雄激素不敏感和卵睾性 DSD 患者的恶性肿瘤发生率分别为 0.8%和 2.6%。然而，由于各种原因，这些数据可能存在偏差。为了更好地估计 DSD 各群组的风险，需要对更大的患者系列进行进一步调查。
