Department of Pediatrics, Division of Pediatric Endocrinology, University Hospital Ghent and Ghent University, 9000 Ghent, Belgium.
J Clin Endocrinol Metab. 2011 Jul;96(7):E1171-80. doi: 10.1210/jc.2011-0232. Epub 2011 Apr 20.
Gonadectomy is avoided whenever possible in boys with 45,X/46,XY. However, no clinical markers are currently available to guide clinicians in predicting gonadal tumor risk or hormone production.
The objective of the study was to test the hypothesis that gonadal histology and risk for development of a malignant germ cell tumor are reflected by the clinical presentation of a 45,X/46,XY individual.
The design of the study was the correlation of clinical data [external masculinization score (EMS), pubertal outcome] with pathology data (gonadal phenotype, tumor risk).
This was a multicenter study involving two multidisciplinary disorder of sex development teams.
Patients included genetically proven 45,X/46,XY (and variants) cases, of whom at least one gonadal biopsy or gonadectomy specimen was available, together with clinical details.
Patients (n = 48) were divided into three groups, based on the EMS. Gonadal histology and tumor risk were assessed on paraffin-embedded samples (n = 87) by morphology and immunohistochemistry on the basis of established criteria.
Gonadal differentiation and tumor risk in the three clinical groups were measured. Clinical outcome in patients with at least one preserved gonad was also measured.
Tumor risk in the three groups was significantly related to the gonadal differentiation pattern (P < 0.001). In boys, hormone production was sufficient and was not predicted by the EMS.
The EMS reflects gonadal differentiation and tumor risk in patients with 45,X/46,XY. In boys, testosterone production is often sufficient, but strict follow-up is warranted because of malignancy risk, which appears inversely related to EMS. In girls, tumor risk is limited but gonads are not functional, making gonadectomy the most reasonable option.
在患有 45,X/46,XY 的男孩中，只要有可能，就应避免进行性腺切除术。然而，目前尚无临床标志物可指导临床医生预测性腺肿瘤风险或激素产生。
本研究旨在检验以下假设，即个体的 45,X/46,XY 临床表现反映了性腺组织学和发生恶性生殖细胞瘤的风险。
该研究的设计是将临床数据（外部男性化评分 [EMS]、青春期结局）与病理数据（性腺表型、肿瘤风险）相关联。
这是一项涉及两个多学科性别发育障碍团队的多中心研究。
患者包括经基因证实的 45,X/46,XY（及其变体）病例，其中至少有一个性腺活检或性腺切除术标本，同时还提供了临床详细信息。
根据 EMS 将患者（n = 48）分为三组。通过形态学和基于既定标准的免疫组织化学对石蜡包埋样本（n = 87）评估性腺组织学和肿瘤风险。
测量三组患者的性腺分化和肿瘤风险。还测量了至少保留一个性腺的患者的临床结局。
三组患者的肿瘤风险与性腺分化模式显著相关（P < 0.001）。在男孩中，激素产生是充足的，而 EMS 并不能预测其产生。
EMS 反映了 45,X/46,XY 患者的性腺分化和肿瘤风险。在男孩中，睾酮产生通常是充足的，但由于存在恶性风险，需要进行严格的随访，该风险似乎与 EMS 呈反比。在女孩中，肿瘤风险有限，但性腺无功能，因此性腺切除术是最合理的选择。
