Comparison of the clinical characteristics of children with Silver-Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study
Özet
Objectives 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.Methods 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.Results 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.Conclusions 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.
Sürdürülebilir Kalkınma Amaçları
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SKA 3: Sağlıklı Bireyler
Atıf için künye
Ozgen, I. T., KANDEMİR, T., YILDIZ, M., POYRAZOĞLU, Ş., ŞIKLAR, Z., Abseyi, N. S., Berberoglu, M., Cetinkaya, S., Esen, S., Muratoglu Sahin, N., Darcan, S., Ozalp Kizilay, D., Ucar, A., Karakas, H., Evliyaoglu, O., Akin, L., Aydin, M., Çayır, A., Demir, K., … Darendeliler, F. (2025). Comparison of the clinical characteristics of children with Silver-Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 38(8), 830–837. https://doi.org/10.1515/jpem-2024-0587
BibTeX
@article{ozgen2025-246719,
author = {Ozgen, Ilker Tolga and KANDEMİR, TUĞÇE and YILDIZ, MELEK and POYRAZOĞLU, ŞÜKRAN and ŞIKLAR, ZEYNEP and Abseyi, Nilay Sema and Berberoglu, Merih and Cetinkaya, Semra and Esen, Senem and Muratoglu Sahin, Nursel and Darcan, Sukran and Ozalp Kizilay, Deniz and Ucar, Ahmet and Karakas, Hasan and Evliyaoglu, Olcay and Akin, Leyla and Aydin, Murat and Çayır, Atilla and Demir, Korcan and Akin Kagizmanli, Gozde and Hatun, Sukru and Yesiltepe Mutlu, Gul and Eviz, Elif and Ozcabi, Bahar and Nursoy, Hatice and Bahar, Semra and Kocabey Sutcu, Zumrut and Darendeliler, Feyza},
title = {Comparison of the clinical characteristics of children with Silver-Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study},
journal = {JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM},
year = {2025},
volume = {38},
number = {8},
pages = {830--837},
issn = {0334-018X},
doi = {10.1515/jpem-2024-0587},
url = {https://akademik.atauni.edu.tr/yayinlar/246719-comparison-of-the-clinical-characteristics-of-children-with-silver-russell}
}