Özgen İlker Tolga, Kandemir Tuğçe, Yıldız Melek, Poyrazoğlu Şükran, Şıklar Zeynep, Abseyi Nilay Sema, Berberoğlu Merih, Çetinkaya Semra, Esen Senem, Muratoğlu Şahin Nursel, Darcan Şükran, Özalp Kızılay Deniz, Uçar Ahmet, Karakaş Hasan, Evliyaoğlu Olcay, Akın Leyla, Aydın Murat, Çayır Atilla, Demir Korcan, Akın Kağızmanlı Gözde, Hatun Şükrü, Yeşiltepe Mutlu Gül, Eviz Elif, Özcabı Bahar, Nursoy Hatice, Bahar Semra, Kocabey Sütçü Zümrüt, Darendeliler Feyza
472600 Biruni University Faculty of Medicine Division of Pediatric Endocrinology , Istanbul, Türkiye.
Division of Pediatric Endocrinology, Istanbul University Istanbul Faculty of Medicine, Istanbul, Türkiye.
J Pediatr Endocrinol Metab. 2025 May 28. doi: 10.1515/jpem-2024-0587.
Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by intrauterine and postnatal growth retardation. Its genetic etiology shows a heterogeneous distribution. This study aimed to evaluate the clinical characteristics of children diagnosed with SRS, their response to growth hormone therapy, and compare the data of genetically confirmed and clinically diagnosed SRS cases.
A total of 69 patients were included in the study. Genetically confirmed cases were considered Group 1, and cases with a clinical diagnosis according to the Netchine-Harbison scoring system were considered Group 2. The anthropometric data of the patients at birth, at the time of diagnosis, before and during the first year of growth hormone (GH) treatment, final height-SDS values of patients who reached final height, and accompanying comorbidities were recorded.
In Group 1, 75.8 % had hypomethylation in the ICR1 region, 13.7 % had maternal uniparental disomy 7, 6.8 % had an IGF-2 mutation, and 3 % had a duplication in the 11p15 region. Central precocious puberty, gastroenterological, and neurologic comorbidities were found to be more frequent than those from other systems. Final height-SDS was -2.32 ± 1.57 (n=5) in Group 1 and -2.41 ± 0.86 (n=5) in Group 2.
11p15 LOM was the most common genetic disorder in children with SRS in our case series. Gastroenterological problems and neurologic complications were observed frequently in these cases. Central precocious puberty was more commonly observed compared to the general population. The duration of treatment was the most critical factor in the success of GH therapy.
Silver-Russell综合征（SRS）是一种罕见的印记障碍，其特征为宫内和出生后生长迟缓。其遗传病因呈异质性分布。本研究旨在评估诊断为SRS的儿童的临床特征、他们对生长激素治疗的反应，并比较基因确诊和临床诊断的SRS病例的数据。
本研究共纳入69例患者。基因确诊的病例被视为第1组，根据Netchine-Harbison评分系统临床诊断的病例被视为第2组。记录患者出生时、诊断时、生长激素（GH）治疗的第一年之前和期间的人体测量数据、达到最终身高的患者的最终身高标准差（SDS）值以及伴随的合并症。
在第1组中，75.8%的患者ICR1区域存在低甲基化，13.7%的患者存在母源单亲二体7，6.8%的患者存在IGF-2突变，3%的患者11p15区域存在重复。发现中枢性性早熟、胃肠病学和神经学合并症比其他系统的合并症更常见。第1组的最终身高SDS为-2.32±1.57（n=5），第2组为-2.41±0.86（n=5）。
在我们的病例系列中，11p15区域母源等位基因甲基化缺失（LOM）是SRS儿童中最常见的遗传疾病。在这些病例中经常观察到胃肠病学问题和神经学并发症。与一般人群相比，中枢性性早熟更常见。治疗持续时间是GH治疗成功的最关键因素。
