通过生长激素刺激测试评估的矮身儿童的外体发现
Idoia Martinez de Lapiscina1,2,3,4,5,6, Matthias Zürcher1, Tanja Zingg1
1Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern 3010, Switzerland.
European journal of endocrinology
|February 19, 2026
概括
外体测序 (ES) 在矮身儿童中具有显著的诊断价值,可以识别生长激素刺激测试 (GHST) 遗传原因. 这有助于针对异常性矮身 (ISS) 的个性化治疗.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 遗传学 是一个遗传学.
- 分子诊断学 分子诊断
背景情况:
- 矮身是一个常见的儿科转诊,诊断依赖于临床评估和有争议的生长激素刺激测试 (GHST).
- 异常性矮身症 (ISS) 是诊断在正常的GHST和没有其他可识别的原因的儿童.
- 遗传因素显著影响成年人身高,但遗传测试在矮身评估中并不经常使用.
研究的目的:
- 评估外体序列测序 (ES) 在接受GHST的矮身儿童的诊断效用,结果各不相同.
- 探索已识别的遗传变异的基因型-表型相关性.
主要方法:
- 在60名身材矮小的儿童身上进行了exome测序 (ES).
- 根据GHST峰值度,参与者被分为三组:≤7 ng/ml,7-10 ng/ml和≥10 ng/ml (每组20个).
- 鉴定出的变异被分析为病原性和与矮身表型的关联.
主要成果:
- 在13.3% (8/60) 的儿童中发现了引起疾病的变异,在7-10 ng/ml GHST组 (4/20) 中检测率最高.
- 致病变体主要在调节生长板发育的基因中发现,其中一些与综合症相关.
- 在21.6% (13/60) 的参与者中检测到14种不确定的变异,可能与矮身有关.
结论:
- 外体测序 (ES) 提供了显著的诊断价值,揭示了从GHST结果中看不到的遗传原因,特别是在特异性矮身 (ISS) 中.
- 将ES整合到诊断工作中可以提高病因学的理解,并支持针对矮身的个性化管理策略.
- 基因检测有助于优化关于生长激素 (GH) 治疗的决策.
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