Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
Leeds General Infirmary, Leeds, UK.
Eur J Endocrinol. 2022 Sep 16;187(4):543-553. doi: 10.1530/EJE-21-1109. Print 2022 Oct 1.
There is limited knowledge on the onset of comorbidities in congenital adrenal hyperplasia (CAH) during childhood. We aimed to establish the health status of children with CAH in the UK.
This cross-sectional multicentre study involved 14 tertiary endocrine UK units, recruiting 101 patients aged 8-18 years with classic 21-hydroxylase deficiency and 83 controls. We analysed demographic, clinical and metabolic data, as well as psychological questionnaires (Strengths and Difficulties (SDQ), Paediatric Quality of Life (PedsQL)).
Patient height SDS in relation to mid-parental height decreased with age, indicating the discrepancy between height achieved and genetic potential height. Bone age was advanced in 40.5% patients, with a mean difference from the chronological age of 1.8 (±2.3) years. Patients were more frequently overweight (27%) or obese (22%) compared to controls (10.8% and 10.8%, respectively, P < 0.001). No consistent relationship between glucocorticoid dose and anthropometric measurements or hormonal biomarkers was detected. A small number of patients had raised total cholesterol (3.0%), low HDL (3.0%), raised LDL (7.0%) and triglycerides (5.0%). SDQ scores were within the 'high' and 'very high' categories of concern for 16.3% of patients. 'School functioning' was the lowest PedsQL scoring dimension with a median (interquartile range) of 70 (55-80), followed by 'emotional functioning' with a median of 75 (65-85).
Our results show an increased prevalence of problems with growth and weight gain in CAH children and suggest reduced quality of life. This highlights the urgent need to optimise management and monitoring strategies to improve long-term health outcomes.
关于儿童时期先天性肾上腺皮质增生症（CAH）合并症的发病情况，目前相关知识有限。本研究旨在评估英国 CAH 患儿的健康状况。
这是一项涉及 14 家英国三级内分泌中心的横断面多中心研究，共招募了 101 名年龄在 8-18 岁的经典 21-羟化酶缺乏症患者和 83 名对照者。我们分析了人口统计学、临床和代谢数据，以及心理问卷（长处和困难问卷（SDQ）、儿科生活质量问卷（PedsQL））。
与中亲身高相关的患者身高 SDS 随年龄增长而下降，表明身高与遗传潜在身高之间存在差异。40.5%的患者骨龄提前，与实际年龄的平均差值为 1.8（±2.3）岁。与对照组（分别为 10.8%和 10.8%）相比，患者超重（27%）或肥胖（22%）更为常见（P<0.001）。糖皮质激素剂量与人体测量或激素生物标志物之间没有一致的关系。少数患者总胆固醇（3.0%）、高密度脂蛋白（3.0%）、低密度脂蛋白（7.0%）和甘油三酯（5.0%）升高。16.3%的患者 SDQ 评分处于关注的“高”和“非常高”类别。“学校功能”是 PedsQL 评分最低的维度，中位数（四分位距）为 70（55-80），其次是“情绪功能”，中位数为 75（65-85）。
我们的研究结果显示 CAH 患儿生长和体重增加存在问题的发生率较高，并提示生活质量下降。这突出表明迫切需要优化管理和监测策略，以改善长期健康结局。
