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

İlker Tolga Özgen; Tuğçe Kandemir; Melek Yıldız; Şükran Poyrazoğlu; Zeynep Şıklar; Nilay Sema Abseyi; Merih Berberoğlu; Semra Çetinkaya; Senem Esen; Nursel Muratoğlu Şahin; Şükran Darcan; Deniz Özalp Kızılay; Ahmet Uçar; Hasan Karakaş; Olcay Evliyaoğlu; Leyla Akın; Murat Aydın; Atilla Çayır; Korcan Demir; Gözde Akın Kağızmanlı; Şükrü Hatun; Gül Yeşiltepe Mutlu; Elif Eviz; Bahar Özcabı; Hatice Nursoy; Semra Bahar; Zümrüt Kocabey Sütçü; Feyza Darendeliler

doi:10.1515/jpem-2024-0587

Article

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

İlker Tolga Özgen , Tuğçe Kandemir , Melek Yıldız , Şükran Poyrazoğlu , Zeynep Şıklar , Nilay Sema Abseyi , Merih Berberoğlu , Semra Çetinkaya , Senem Esen , Nursel Muratoğlu Şahin , Şükran Darcan , Deniz Özalp Kızılay , Ahmet Uçar , Hasan Karakaş , Olcay Evliyaoğlu , Leyla Akın , Murat Aydın , Atilla Çayır , Korcan Demir , Gözde Akın Kağızmanlı , Şükrü Hatun , Gül Yeşiltepe Mutlu , Elif Eviz , Bahar Özcabı , Hatice Nursoy , Semra Bahar , Zümrüt Kocabey Sütçü and Feyza Darendeliler

Published/Copyright: May 28, 2025

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 38 Issue 8

Abstract

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.

Keywords: Silver Russel syndrome; clinical characteristics; growth hormone; complications

Corresponding author: İlker Tolga Özgen, Biruni University Faculty of Medicine Division of Pedaiatrics Endocrinology Küçükçekmece, Istanbul, Türkiye, E-mail: drtolgaozgen@yahoo.com

Research ethics: The study was approved by the ethics committee of Bezmialem Vakıf University on 06.09.2023 with the number E-54022451-050.05.04-122621.
Informed consent: Not applicable.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Use of Large Language Models, AI and Machine Learning Tools: None declared.
Conflict of interest: The authors state no conflict of interest.
Research funding: None declared.
Data availability: Not applicable.

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Received: 2024-12-05

Accepted: 2025-05-09

Published Online: 2025-05-28

Published in Print: 2025-08-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2024-0587

Keywords for this article

Silver Russel syndrome; clinical characteristics; growth hormone; complications