Craniopharyngiomas（CP）是罕见的先天性肿瘤。关于儿童患有CP的临床表现和预后，特别涉及诊断年龄，目前还不清楚。本队列研究的目的是确定这些患者的不同诊断年龄的临床表现和预后。1999-2021年，HIT-Endo、KRANIOPHARYNGEOM 2000/2007/Registry 2019共招募了709例诊断为CP的患者，并进行了前瞻性观察。诊断年龄分为幼儿（<2y）、幼儿期早期（2-<6y）、中小学儿童（6-<12y）和早期青春期（12-<18y）。评估了整体和无事件生存率（EFS）、功能能力（FMH）和生活质量（QoL）（PEDQOL）。最后一次访问时，严重肥胖（BMI>3SDS）普遍存在于45.4%的患者中。与≥6y相比，诊断年龄<6y的儿童EFS较低但QoL更好。降低的功能能力百分位与最后一次访问时的BMI-SDS增加（rho=-0.125，95% CI [-0.21; -0.04]）和诊断年龄<2y有关。后下丘脑受累（HI）和下丘脑病变（HL）是降低无事件生存率（HR=1.59，95% CI [1.12; 2.26]）和最后一次访问时肥胖的独立危险因素（OR=2.94，95% CI [1.73; 5.08]）。诊断年龄对严重肥胖和降低QoL没有贡献。诊断CP应在6岁以下进行，可以帮助患者早期适应残疾，但可能会导致CP复发的可能性更高。严重肥胖和降低QoL的贡献因素是后HL而非诊断年龄。©作者2023年。牛津大学出版社代表（ESE）欧洲内分泌学会出版。版权所有。如需授权，请发送电子邮件至journals.permissions@oup.com。

Craniopharyngiomas (CP) are rare malformational tumors. Clinical presentation and outcome of pediatric patients with CP with specific regard to age at diagnosis is not clear. The aim of this cohort study was to determine clinical presentation and outcome in these patients diagnosed at different ages at diagnosis.Seven hundred and nine patients diagnosed with CP were recruited 1999-2021 in HIT-Endo, KRANIOPHARYNGEOM 2000/2007/Registry 2019 and prospectively observed.Age at diagnosis was categorized as infants&toddlers (<2y), early childhood (2-<6y), middle childhood (6-<12y) and early adolescence (12-<18y). Overall and event-free survival (EFS), functional capacity (FMH) and quality of life (QoL) (PEDQOL) were assessed.Severe obesity (BMI >3SDS) was prevalent in 45.4% at last visit. Lower EFS but better QoL was observed in children with age at diagnosis <6y compared to ≥ 6y. Reduced functional capacity percentiles were associated with increased BMI-SDS at last visit (rho=-0.125, 95% CI [-0.21; -0.04]) and age at diagnosis <2y. Posterior hypothalamic involvement (HI) and hypothalamic lesion (HL) are independent risk factors for reduced event-free survival (HR=1.59, 95% CI [1.12; 2.26]) and obesity at last visit (OR=2.94, 95% CI [1.73; 5.08]). Age at diagnosis did not contribute to severe obesity and reduced QoL.Diagnosis of CP at an age <6 years, may help patients to adapt early to disabilities, but may lead to a higher probability of CP relapse. Not age at diagnosis but posterior HL may be the contributing factor to severe obesity and a reduced QoL.© The Author(s) 2023. Published by Oxford University Press on behalf of (ESE) European Society of Endocrinology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.