Tseretopoulou Xanthippi, Ali Salma R, Gardner Melissa, Flett Martyn, Lee Boma, O'Toole Stuart, Steven Mairi, Sandberg David E, Ahmed S Faisal
Developmental Endocrinology Research Group, Royal Hospital for Children, University of Glasgow, Glasgow, UK.
Office for Rare Conditions, University of Glasgow, Glasgow, UK.
Arch Dis Child. 2025 Jun 8. doi: 10.1136/archdischild-2024-328377.
To validate a short parent-reported outcome (PRO) questionnaire in young boys with conditions affecting sex development (PRO-CSD).
Consecutive sample cross-sectional study.
A single tertiary children's hospital in Glasgow, UK.
A total number of 98 parents of 98 affected boys with a median age of 3.1 years (10th, 90th: 0.7, 5.4).
Completion of recently developed brief PRO-CSD consisting of a parent proxy-report (PPR) and a parent self-report (PSR).
The study assessed test-retest reliability in 41 cases as intraclass correlation coefficients (ICCs) and group construct validity in 98 by exploring associations with seven demographic and clinical features.
The median ICC for all items was 0.8 (0.6, 0.9). On the PSR, parents of boys with an external masculinisation score (EMS) of less than 7 out of 12 were more concerned about their child's genitalia compared with those with an EMS of greater than 10.5 (p=0.01). An association with EMS was also observed for questions on future social concerns (p<0.01), future relationships (p<0.01) and stress on receiving the diagnosis (p=0.03). This association with EMS was maintained following adjustment for surgical history, parental age and education level. EMS was the only significant independent determinant of the overall PSR score. In the PPR analysis, parents in the lower socioeconomic grouping and those without tertiary education reported more concerns on the physical functioning of their children.
The psychometric properties of the PRO-CSD tool demonstrate its utility for the screening of parent-reported, condition-specific health-related quality of life outcomes in young boys with a CSD.
验证一份简短的家长报告结局（PRO）问卷在患有性发育相关疾病（PRO-CSD）的幼龄男孩中的有效性。
连续样本横断面研究。
英国格拉斯哥的一家三级儿童医院。
98名患病男孩的98位家长，中位年龄为3.1岁（第10百分位数、第90百分位数：0.7、5.4）。
完成最近开发的简短PRO-CSD问卷，包括家长代理报告（PPR）和家长自我报告（PSR）。
该研究通过探索与七个人口统计学和临床特征的关联，评估了41例病例的重测信度（组内相关系数，ICC）以及98例的组构念效度。
所有项目的中位ICC为0.8（0.6，0.9）。在PSR方面，外部男性化评分（EMS）低于12分中7分的男孩的家长比EMS高于10.5分的家长更担心孩子的生殖器（p=0.01）。在关于未来社会担忧（p<0.01）、未来人际关系（p<0.01）以及接受诊断时的压力（p=0.03）的问题上，也观察到与EMS的关联。在对手术史、父母年龄和教育水平进行调整后，这种与EMS的关联依然存在。EMS是PSR总体评分的唯一显著独立决定因素。在PPR分析中，社会经济分组较低以及未接受高等教育的家长报告对孩子身体功能更为担忧。
PRO-CSD工具的心理测量特性表明其可用于筛查家长报告的、患有CSD的幼龄男孩特定疾病相关的健康相关生活质量结局。
