Lu Liangsheng, Luo Feihong, Wang Xiang
Division of Pediatric Urology, Children's Hospital of Fudan University, Shanghai, China.
Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai, China.
Front Pediatr. 2022 Jul 22;10:856128. doi: 10.3389/fped.2022.856128. eCollection 2022.
This retrospective study sought to investigate the risk and proportion of gonadal neoplasms in phenotypic female pediatric patients with DSD and the presence of the Y chromosome and different genetic backgrounds in a single Chinese center.
From January 2012 to December 2020, pediatric and adolescent patients with DSD and the presence of the Y chromosome who had unambiguous female genitalia and underwent bilateral gonadectomy or gonadal biopsy were included in this study. Patients' demographics, karyotype, laboratory test results, gross pathology, and histology of gonadal tissue were all collected. The patients were divided into three groups based on their different genetic backgrounds, and the percentage of gonadal tumors was calculated to assess the risk of gonadal tumor and malignancy by etiology.
A total of 22 patients with DSD and an unambiguous female phenotype with a Y chromosome were recruited. The mean age was 10.91 ± 4.99 years (9 months to 19 years). Gonadal neoplasia was confirmed in six (27.3%) cases by pathological examination of surgical gonadal tissue samples. Among 44 gonadal samples from these 22 patients, the following were identified: five gonadoblastomas, three dysgerminomas, and two Leydig cell tumors. The youngest patient with a tumor was a 2-year-old girl with 46,XY complete gonadal dysgenesis (46,XY CGD or Swyer syndrome) and bilateral gonadoblastoma. Patients with 46,XY complete gonadal dysgenesis (4/6; 66.7%) had the highest tumor occurrence rate. Among 10 patients with Turner syndrome with the presence of the Y chromosome, only one patient was diagnosed with a gonadal tumor. Leydig cell tumor was diagnosed in only one of six patients with 46,XY androgen synthesis/action disorders.
Pediatric patients with 46,XY complete gonadal dysgenesis had a significantly increased risk of developing gonadal tumors and underwent prophylactic gonadectomy as soon as the diagnosis was confirmed, whereas those with Turner syndrome with Y chromosome and 46,XY androgen synthesis/action disorders had a relatively low risk. In view of the limited number of patients, a large multicenter study with close follow-ups is needed to support these conclusions.
本回顾性研究旨在调查中国一家中心的具有性发育异常（DSD）的表型女性儿科患者性腺肿瘤的风险和比例，以及Y染色体的存在和不同遗传背景。
2012年1月至2020年12月，纳入具有DSD且存在Y染色体、外生殖器明确为女性并接受双侧性腺切除术或性腺活检的儿科和青少年患者。收集患者的人口统计学资料、核型、实验室检查结果、性腺组织大体病理和组织学资料。根据不同遗传背景将患者分为三组，计算性腺肿瘤的百分比，以评估按病因分类的性腺肿瘤和恶性肿瘤的风险。
共招募了22例具有明确女性表型且带有Y染色体的DSD患者。平均年龄为10.91±4.99岁（9个月至19岁）。通过手术性腺组织样本的病理检查确诊6例（27.3%）性腺肿瘤。在这22例患者的44个性腺样本中，鉴定出以下肿瘤：5例性腺母细胞瘤、3例无性细胞瘤和2例莱迪希细胞瘤。最年轻的肿瘤患者是一名2岁女孩，患有46,XY完全性性腺发育不全（46,XY CGD或斯维尔综合征）和双侧性腺母细胞瘤。46,XY完全性性腺发育不全患者（4/6；66.7%）的肿瘤发生率最高。在10例存在Y染色体的特纳综合征患者中，仅1例被诊断为性腺肿瘤。在患有46,XY雄激素合成/作用障碍的6例患者中，仅1例被诊断为莱迪希细胞瘤。
46,XY完全性性腺发育不全的儿科患者发生性腺肿瘤的风险显著增加，确诊后应尽快进行预防性性腺切除术，而存在Y染色体的特纳综合征患者和46,XY雄激素合成/作用障碍患者的风险相对较低。鉴于患者数量有限，需要进行大规模多中心研究并密切随访以支持这些结论。
