Accardo Giacomo, Vallone Gianfranco, Esposito Daniela, Barbato Filomena, Renzullo Andrea, Conzo Giovanni, Docimo Giovanni, Esposito Katherine, Pasquali Daniela
Department of Cardiothoracic and Respiratory Sciences, Endocrine Unit, Second University of Naples, Italy.
Asian J Androl. 2015 Jan-Feb;17(1):154-8. doi: 10.4103/1008-682X.128514.
Klinefelter syndrome (KS) is a hypergonadotropic hypogonadism characterized by a 47, XXY karyotype. The risk of testicular cancer in KS is of interest in relation to theories about testicular cancer etiology generally; nevertheless it seems to be low. We evaluated the need for imaging and serum tumor markers for testicular cancer screening in KS. Participants were 40 consecutive KS patients, enrolled from December 2009 to January 2013. Lactate dehydrogenase (LDH), alpha-fetoprotein (AFP), and beta-human chorionic gonadotrophin subunit (β-HCG) serum levels assays and testicular ultrasound (US) with color Doppler, were carried out at study entry, after 6 months and every year for 3 years. Abdominal magnetic resonance (MR) was performed in KS when testicular US showed micro-calcifications, testicular nodules and cysts. Nearly 62% of the KS had regular testicular echotexture, 37.5% showed an irregular echotexture and 17.5% had micro-calcifications and cysts. Eighty seven percent of KS had a regular vascular pattern, 12.5% varicocele, 12.5% nodules <1 cm, but none had nodules >1 cm. MR ruled out the diagnosis of cancer in all KS with testicular micro calcifications, nodules and cysts. No significant variations in LDH, AFP, and β-HCG levels and in US pattern have been detected during follow-up. We compared serum tumor markers and US pattern between KS with and without cryptorchidism and no statistical differences were found. We did not find testicular cancer in KS, and testicular US, tumor markers and MR were, in selected cases, useful tools for correctly discriminating benign from malignant lesions.
克兰费尔特综合征（KS）是一种以47, XXY核型为特征的高促性腺激素性性腺功能减退症。KS患者患睾丸癌的风险与睾丸癌病因的一般理论相关，不过其风险似乎较低。我们评估了KS患者进行睾丸癌筛查时影像学检查和血清肿瘤标志物检查的必要性。研究对象为2009年12月至2013年1月连续入选的40例KS患者。在研究开始时、6个月后以及随后3年每年进行一次乳酸脱氢酶（LDH）、甲胎蛋白（AFP）和β人绒毛膜促性腺激素亚基（β-HCG）血清水平检测以及彩色多普勒睾丸超声（US）检查。当睾丸超声显示微钙化、睾丸结节和囊肿时，对KS患者进行腹部磁共振（MR）检查。近62%的KS患者睾丸回声纹理正常，37.5%表现为不规则回声纹理，17.5%有微钙化和囊肿。87%的KS患者血管形态正常，12.5%有精索静脉曲张，12.5%有直径<1 cm的结节，但无直径>1 cm的结节。MR排除了所有有睾丸微钙化、结节和囊肿的KS患者的癌症诊断。随访期间未检测到LDH、AFP和β-HCG水平以及超声检查结果有显著变化。我们比较了有无隐睾症的KS患者的血清肿瘤标志物和超声检查结果，未发现统计学差异。我们在KS患者中未发现睾丸癌，在某些情况下，睾丸超声、肿瘤标志物和MR是正确区分良性和恶性病变的有用工具。
