Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism
Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism
复制标题
DOI：
10.1210/jc.2011-0232
复制
发表时间：
2011-07-01
影响因子：
5.8
通讯作者：
Wolffenbuttel, K. P.
中科院分区：
文献类型：
--
作者：
Cools, M.;Pleskacova, J.;Wolffenbuttel, K. P.
背景：对于患有45、X/46、XY的男孩，只要可能，就避免进行性腺切除术。然而，目前尚无临床标志物可用于指导临床医生预测性腺肿瘤的风险或激素的产生。目的：本研究的目的是验证一种假设，即性腺组织学和恶性生殖细胞肿瘤的发展风险是由45、X/46、XY个体的临床表现反映的。设计：研究的设计是临床数据[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）的相关性。环境：这是一项涉及两个多学科性发育障碍小组的多中心研究。患者：患者包括基因证实的45例，X/46例，XY（和变体）病例，其中至少有一个性腺活检或性腺切除术标本，以及临床细节。干预措施：48例患者根据EMS分为三组。对87例石蜡包埋标本（n = 87）按既定标准进行形态学和免疫组织化学评价性腺组织学和肿瘤风险。主要观察指标：观察三组患者的性腺分化及肿瘤风险。至少保留一个性腺的患者的临床结果也被测量。结果：三组患者的肿瘤风险与性腺分化模式有显著相关性（P < 0.001）。在男孩中，激素分泌充足，EMS无法预测。结论：EMS反映了45、X/46、XY患者的性腺分化和肿瘤风险。在男孩中，睾丸激素的产生通常是足够的，但由于恶性肿瘤的风险，这似乎与EMS呈负相关，因此需要严格的随访。在女孩中，肿瘤风险有限，但性腺功能不全，使性腺切除术成为最合理的选择。[J] .中华内分泌杂志，2011,31(5):571 - 578。
Context: 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.Objective: 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.Design: The design of the study was the correlation of clinical data [external masculinization score (EMS), pubertal outcome] with pathology data (gonadal phenotype, tumor risk).Setting: This was a multicenter study involving two multidisciplinary disorder of sex development teams.Patients: 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.Interventions: 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.Main Outcome Measures: 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.Results: 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.Conclusions: 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. (J Clin Endocrinol Metab 96: E1171-E1180, 2011)