Laboratory of Anthropology, The Children's Memorial Health Institute, Warsaw, Poland.
Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
Endokrynol Pol. 2023;74(3):285-293. doi: 10.5603/EP.a2023.0042. Epub 2023 Jun 19.
Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11. In SRS, the 2 most frequent molecular abnormalities are hypomethylation (loss of methylation) of region H19/IGF2:IG-DMR on chromosome 11p15.5 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Therapy with recombinant human growth hormone (rhGH) is implemented to increase body height in children with SRS. The effect of the administered rhGH on height, weight, body mass index (BMI), body composition, and height velocity in patients with SRS during 3 years of rhGH therapy was analysed.
31 SRS patients (23 with 11p15 LOM, 8 with upd(7)mat) and 16 patients small for gestational age (SGA) as a control group were diagnosed and followed up in The Children's Memorial Health Institute. Patients were eligible for the 2 Polish rhGH treatment programmes [for patients with SGA or with growth hormone deficiency (GHD)]. Anthropometric parameters were collected in all patients. Body composition using bioelectrical impedance was measured in 13 SRS and 14 SGA patients.
Height, weight, and weight for height (SDS) at baseline of rhGH therapy were lower in SRS patients than in the SGA control group: -3.3 ± 1.2 vs. -2.6 ± 06 (p = 0.012), -2.5 vs. -1.9 (p = 0.037), -1.7 vs. -1.1 (p = 0.038), respectively. Height SDS was increased from -3.3 ± 1.2 to -1.8 ± 1.0 and from -2.6 ± 0.6 to -1.3 ± 0.7 in the SRS and SGA groups, respectively. Patients with 11p15 LOM and upd(7) mat achieved similar height, 127.0 ± 15.7 vs. 128.9 ± 21.6 cm, and -2.0 ± 1.3 vs. -1.7 ± 1.0 SDS, respectively. Fat mass percentage decreased in SRS patients from 4.2% to 3.0% (p < 0.05) and in SGA patients from 7.6% to 6.6% (p < 0.05).
Growth hormone therapy has a positive influence on the growth of SRS patients. Regardless of molecular abnormality type (11p15 LOM vs. upd(7)mat), height velocity was similar in SRS patients during 3 years of rhGH therapy.
银-罗素综合征（SRS）的特征是临床和遗传异质性。SRS 是唯一与 2 条不同染色体（7 号和 11 号）的（表）遗传异常相关的疾病实体。在 SRS 中，最常见的两种分子异常是 11p15.5 染色体上 H19/IGF2：IG-DMR 区的低甲基化（甲基化缺失）（11p15 LOM）和 7 号染色体母源单亲二体性（upd(7)mat）。为了增加 SRS 儿童的身高，使用重组人生长激素（rhGH）进行治疗。分析了 rhGH 治疗 3 年内 rhGH 对 SRS 患者身高、体重、体重指数（BMI）、身体成分和身高增长速度的影响。
31 名 SRS 患者（23 名 11p15 LOM，8 名 upd(7)mat）和 16 名作为对照组的小于胎龄儿（SGA）在儿童纪念健康研究所被诊断和随访。患者符合波兰的 2 个 rhGH 治疗方案[用于 SGA 或生长激素缺乏症（GHD）患者]。所有患者均收集了人体测量学参数。在 13 名 SRS 和 14 名 SGA 患者中使用生物电阻抗法测量身体成分。
rhGH 治疗前 SRS 患者的身高、体重和身高体重比（SDS）均低于 SGA 对照组：-3.3 ± 1.2 与 -2.6 ± 06（p = 0.012），-2.5 与 -1.9（p = 0.037），-1.7 与 -1.1（p = 0.038）。SRS 和 SGA 组的身高 SDS 分别从-3.3 ± 1.2 增加到-1.8 ± 1.0 和-2.6 ± 0.6 到-1.3 ± 0.7。11p15 LOM 和 upd(7)mat 患者的身高相同，分别为 127.0 ± 15.7 和 128.9 ± 21.6 cm，SDS 分别为-2.0 ± 1.3 和-1.7 ± 1.0。SRS 患者的脂肪百分比从 4.2%降至 3.0%（p < 0.05），SGA 患者从 7.6%降至 6.6%（p < 0.05）。
生长激素治疗对 SRS 患者的生长有积极影响。无论分子异常类型（11p15 LOM 与 upd(7)mat）如何，SRS 患者在 3 年 rhGH 治疗期间的身高增长速度相似。
