Human Development and Health, Faculty of Medicine University of Southampton, Southampton, UK.
Department of Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Clin Endocrinol (Oxf). 2022 Sep;97(3):284-292. doi: 10.1111/cen.14715. Epub 2022 Mar 21.
Silver-Russell syndrome (SRS) causes short stature. Growth hormone (GH) treatment aims to increase adult height. However, data are limited on the long-term outcomes of GH in patients with molecularly confirmed SRS. This study evaluated height, body mass index (BMI) and GH treatment in molecularly confirmed SRS.
An observational study with retrospective data collection.
Individuals with molecularly confirmed SRS aged ≥13 years.
Data were collected on height, height gain (change in height standard deviation score [SDS] from childhood to final or near-final height), BMI and gain in BMI (from childhood to adulthood) and previous GH treatment.
Seventy-one individuals (40 female) were included. The median age was 22.0 years (range 13.2-69.7). The molecular diagnoses: H19/IGF2:IG-DMR LOM in 80.3% (57/71); upd(7)mat in 16.9% (12/71) and IGF2 mutation in 2.8% (2/71). GH treatment occurred in 77.5% (55/71). Total height gain was greater in GH-treated individuals (median 1.53 SDS vs. 0.53 SDS, p = .007), who were shorter at treatment initiation (-3.46 SDS vs. -2.91 SDS, p = .04) but reached comparable heights to GH-untreated individuals (-2.22 SDS vs. -2.74 SDS, p = .7). In GH-treated individuals, BMI SDS was lower at the most recent assessment (median -1.10 vs. 1.66, p = .002) with lower BMI gain (2.01 vs. 3.58, p = .006) despite similar early BMI SDS to GH-untreated individuals (median -2.65 vs. -2.78, p = .3).
These results support the use of GH in SRS for increasing height SDS. GH treatment was associated with lower adult BMI which may reflect improved metabolic health even following discontinuation of therapy.
银-鲁综合征（SRS）导致身材矮小。生长激素（GH）治疗旨在增加成年身高。然而，关于分子确诊的 SRS 患者接受 GH 治疗的长期结果的数据有限。本研究评估了分子确诊的 SRS 患者的身高、体重指数（BMI）和 GH 治疗情况。
一项回顾性数据收集的观察性研究。
年龄≥13 岁且分子确诊的 SRS 患者。
收集身高、身高增长（儿童期到最终或接近最终身高时身高标准差评分[SDS]的变化）、BMI 和 BMI 增长（从儿童期到成年期）以及之前的 GH 治疗数据。
共纳入 71 名患者（40 名女性）。中位年龄为 22.0 岁（范围 13.2-69.7 岁）。分子诊断：H19/IGF2：IG-DMR LOM 占 80.3%（57/71）；upd(7)mat 占 16.9%（12/71），IGF2 突变占 2.8%（2/71）。77.5%（55/71）的患者接受了 GH 治疗。GH 治疗组的总身高增长更大（中位数 1.53 SDS 比 0.53 SDS，p=0.007），治疗开始时更矮（中位数-3.46 SDS 比-2.91 SDS，p=0.04），但最终身高与未接受 GH 治疗的患者相当（中位数-2.22 SDS 比-2.74 SDS，p=0.7）。在接受 GH 治疗的患者中，最近一次评估时 BMI SDS 较低（中位数-1.10 比 1.66，p=0.002），BMI 增长较低（中位数 2.01 比 3.58，p=0.006），尽管他们在早期的 BMI SDS 与未接受 GH 治疗的患者相似（中位数-2.65 比-2.78，p=0.3）。
这些结果支持在 SRS 中使用 GH 以增加身高 SDS。GH 治疗与成人 BMI 较低有关，这可能反映了即使在停止治疗后代谢健康状况也有所改善。
