Department of Andrology and Reproductive Endocrinology, Medical University of Lodz, Pomorska 251, 92-213 Lodz, Poland.
Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Aleja Dzieci Polskich 20, 04-730 Warsaw, Poland.
Cancer Epidemiol. 2020 Dec;69:101800. doi: 10.1016/j.canep.2020.101800. Epub 2020 Sep 6.
Patients with disorders/differences of sex development (DSD), especially those possessing the Y chromosome, have a higher risk of gonadal germ-cell tumours (GCTs). We aimed to examine the incidence of different types of gonadal neoplasia and associated risk factors.
A total of 1040 DSD patients aged ≥16 years participated in a cross-sectional multicentre European study (dsd-LIFE). Data on medical history were gathered from the patients' archival medical documents. A web-based questionnaire was filled out individually by the participants. A physical examination was performed in all, while ultrasonography of gonads was carried out in 214 and semen analysis was performed for 53 patients.
Germ-cell neoplasia was present in 12 % of patients with DSD and in 14 % of those with XY DSD. The highest risk (36 %) was observed in 46,XY patients with gonadal dysgenesis (GD): complete GD (33 %) and partial GD (23 %), but also in mixed GD (8 %) and complete androgen insensitivity syndrome (AIS) (6%). It was not reported in partial AIS, XX male, 46,XX DSD and congenital adrenal hyperplasia, Turner and Klinefelter syndromes, or in androgen biosynthesis defects. Benign sex cord-stromal tumours (Sertoli- and Leydig-cell tumours) were noted only in patients with complete AIS (3.1 %) and Klinefelter syndrome (14.3 %). A relationship between risk factors for GCT and gonadal neoplasia appearance, other than the Y chromosome, was not found.
Adult patients with GD and the Y chromosome have the highest risk of GCT and should be kept under thorough medical control and receive special medical follow-up to prevent the development of gonadal tumours.
患有性发育障碍/差异（DSD）的患者，尤其是那些拥有 Y 染色体的患者，发生性腺生殖细胞肿瘤（GCT）的风险较高。我们旨在研究不同类型性腺肿瘤的发病情况和相关的危险因素。
共 1040 名年龄≥16 岁的 DSD 患者参加了一项跨欧洲中心的横断面研究（dsd-LIFE）。患者的病史资料从其存档的病历中收集。参与者通过网络问卷单独填写，所有患者都接受了体格检查，214 例患者接受了性腺超声检查，53 例患者进行了精液分析。
12%的 DSD 患者和 14%的 XY DSD 患者存在生殖细胞肿瘤。性腺发育不全（GD）的 46,XY 患者风险最高（36%）：完全 GD（33%）和部分 GD（23%），混合 GD（8%）和完全雄激素不敏感综合征（AIS）（6%）也存在风险。部分 AIS、XX 男性、46,XX DSD、先天性肾上腺皮质增生症、特纳综合征和克莱恩费尔特综合征或雄激素生物合成缺陷患者未报告此类疾病。仅在完全 AIS（3.1%）和克莱恩费尔特综合征（14.3%）患者中发现良性性索-间质肿瘤（Sertoli 细胞和 Leydig 细胞肿瘤）。除 Y 染色体外，我们未发现 GCT 风险因素与性腺肿瘤发生之间存在关系。
GD 和 Y 染色体的成年患者发生 GCT 的风险最高，应进行彻底的医疗监测，并接受特殊的医疗随访，以预防性腺肿瘤的发展。
