Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University, London EC1M 6BQ, UK.
Department of Paediatric Endocrinology, The Children's Hospital at the Royal London Hospital, Whitechapel, London E1 1FR, UK.
BMJ Paediatr Open. 2022 Jul;6(1). doi: 10.1136/bmjpo-2021-001385.
The aim of this observational study was to evaluate the UK and Dutch referral criteria for short stature to determine their sensitivity and specificity in predicting pathological short stature. Adherence to the recommended panel of investigations was also assessed.
Retrospective review of medical records to examine the auxological parameters, investigations and diagnosis of subjects referred to two paediatric endocrine clinics at the Royal London Children's Hospital between 2016 and 2021. We analysed: height SD score (HtSDS), height SDS minus target height SDS (Ht-THSDS) and height deflection SDS (HtDefSDS). The UK referral criteria were HtSDS <-2.7, Ht-THSDS >2.0 and HtDefSDS >1.3. The Dutch referral criteria were HtSDS <-2.0, Ht-THSDS >1.6 and HtDefSDS >1.0.
Data were available for 143 subjects (72% males) with mean (range) age 8.7 years (0.5-19.9). HtSDS and Ht-THSDS were significantly lower in the pathological stature (n=66) versus the non-pathological stature (n=77) subjects (-2.67±0.82 vs -1.97±0.70; p<0.001 and -2.07±1.02 vs -1.06±0.99; p<0.001, respectively). The sensitivity and specificity to detect pathology was 41% and 83% for the UK criteria (HtSDS <-2.7) compared with 59% and 79% for the Dutch criteria (HtSDS <-2.0), 48% and 83% for UK criteria (Ht-THSDS <-2.0) compared with 74% and 72% for Dutch criteria (Ht-THSDS <-1.6) and 33% and 68% for UK criteria (HtDefSDS >1.3) compared with 44% and 63% for the Dutch criteria (HtDefSDS >1.0). On average, each patient had 88% of the recommended investigations, and 53% had all the recommended testing. New pathology was identified in 36% of subjects.
In isolation, the UK auxological referral thresholds have limited sensitivity and specificity for pathological short stature. The combination of HtSDS and Ht-THSDS improved the sensitivity of UK criteria to detect pathology from 41% to 68%. Attention to the child's genetic height potential prior to referral can prevent unnecessary assessments.
本观察性研究旨在评估英国和荷兰矮小症转诊标准，以确定其在预测病理性矮小症方面的敏感性和特异性。同时评估了对推荐的一系列检查的依从性。
回顾性分析了 2016 年至 2021 年期间在伦敦皇家儿童医院两家儿科内分泌诊所就诊的患者的病历，以检查其人体测量学参数、检查和诊断结果。我们分析了身高标准差评分（HtSDS）、身高 SDS 减去目标身高 SDS（Ht-THSDS）和身高偏差 SDS（HtDefSDS）。英国转诊标准为 HtSDS <-2.7、Ht-THSDS >2.0 和 HtDefSDS >1.3。荷兰转诊标准为 HtSDS <-2.0、Ht-THSDS >1.6 和 HtDefSDS >1.0。
共纳入 143 名患者（72%为男性），平均（范围）年龄为 8.7 岁（0.5-19.9）。病理性矮小症（n=66）患者的 HtSDS 和 Ht-THSDS 明显低于非病理性矮小症（n=77）患者（-2.67±0.82 与-1.97±0.70；p<0.001 和-2.07±1.02 与-1.06±0.99；p<0.001）。英国标准（HtSDS <-2.7）检测病理的敏感性和特异性分别为 41%和 83%，而荷兰标准（HtSDS <-2.0）分别为 59%和 79%；英国标准（Ht-THSDS <-2.0）的敏感性和特异性分别为 48%和 83%，荷兰标准（Ht-THSDS <-1.6）分别为 74%和 72%；英国标准（HtDefSDS >1.3）的敏感性和特异性分别为 33%和 68%，荷兰标准（HtDefSDS >1.0）分别为 44%和 63%。平均而言，每位患者接受了 88%的推荐检查，53%的患者接受了所有推荐的检查。36%的患者发现了新的病变。
孤立使用英国人体测量学转诊标准时，对病理性矮小症的敏感性和特异性有限。HtSDS 和 Ht-THSDS 的联合使用将英国标准检测病理的敏感性从 41%提高到 68%。在转诊前关注儿童的遗传身高潜力，可以避免不必要的评估。
