Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Wakeling, Emma; Brioude, Frédéric; Lokulo-Sodipe, Oluwakemi; O’Çonnell, Susan; Salem, Jennifer Ben; Bliek, Jet; Canton, Ana P. M.; Chrzanowska, Krystyna; Davies, Justin H; Dias, Renuka; Dubern, B.; Elbracht, Miriam; Giabicani, Éloïse; Grimberg, Adda; Grønskov, Karen; Hokken-Koelega, Anita; Jorge, Alexander A. L.; Kagami, Masayo; Linglart, Agnès; Maghnie, Mohamad; Mohnike, Klaus; Monk, David; Moore, Gudrun E.; Murray, Phillip; Ogata, Tsutomu; Petit, Isabelle; Russo, Silvia; Said, Edith; Toumba, Meropi; Tümer, Zeynep; Binder, Gerhard; Eggermann, Thomas; Harbison, Madeleine D.; Temple, I. Karen; Mackay, Deborah J G; Netchine, Irène

doi:10.1038/nrendo.2016.138

Cited by 358 publications

(591 citation statements)

References 149 publications

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“…Table 1; for all online suppl. material, see www.karger.com/doi/10.1159/000496700) [18]. One of these participants previously had negative genetic testing for SRS (for H19 hypomethylation and UPD7).…”

Section: Resultsmentioning

confidence: 99%

“…Temple syndrome, another imprinting disorder, has phenotypic features similar to SRS, but effects of growth hormone on body composition or other non-growth-related parameters have not been assessed. Obesity is a particular concern in this patient population and early prevention of obesity is necessary, similar to what has been recommended in SRS [18]. We recommend that growth hormone is considered in all patients with Temple syndrome who have short stature along with careful monitoring of pubertal development and treatment of precocious puberty.…”

Section: Discussionmentioning

confidence: 99%

“…The overlap with SRS is also used as a rationale for growth hormone treatment following the SRS consensus [18]. However, to date, there are only 12 individuals reported in the literature who have been treated with growth hormone [8, 12, 19, 20].…”

Section: Introductionmentioning

confidence: 99%

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Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Brightman

Lokulo-Sodipe

Searle³

et al. 2018

Horm Res Paediatr

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Background/Aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome. Methods: This was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone. Results: After 1 year of growth hormone treatment, the height standard deviation score (SDS) increased a median of 1.31 SDS with a median increased height velocity of 5.30 cm/year. Conclusions: These results suggest short-term improvement in height SDS with growth hormone treatment similar to the response in patients treated under the small for gestational age indication. We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature.

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Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Brightman

Lokulo-Sodipe

Searle³

et al. 2018

Horm Res Paediatr

Self Cite

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“…Some Temple syndrome features clinically overlap with SRS, including pre- and postnatal growth retardation, hypotonia, delay in the development of motor skills, and early puberty. Recently, the first SRS Consensus was published, and it suggested that Temple syndrome should only be investigated when SRS has been excluded due to the clinical overlap between both syndromes [39]. …”

Section: Discussionmentioning

confidence: 99%

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

et al. 2017

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Background/Aims: Genetic imbalances are responsible for many cases of short stature of unknown etiology. This study aims to identify recurrent pathogenic copy number variants (CNVs) in patients with syndromic short stature of unknown cause. Methods: We selected 229 children with short stature and dysmorphic features, developmental delay, and/or intellectual disability, but without a recognized syndrome. All patients were evaluated by chromosomal microarray (array-based comparative genomic hybridization/single nucleotide polymorphism array). Additionally, we searched databases and previous studies to recover recurrent pathogenic CNVs associated with short stature. Results: We identified 32 pathogenic/probably pathogenic CNVs in 229 patients. By reviewing the literature, we selected 4 previous studies which evaluated CNVs in cohorts of patients with short stature. Taken together, there were 671 patients with short stature of unknown cause evaluated by chromosomal microarray. Pathogenic/probably pathogenic CNVs were identified in 87 patients (13%). Seven recurrent CNVs, 22q11.21, 15q26, 1p36.33, Xp22.33, 17p13.3, 1q21.1, 2q24.2, were observed. They are responsible for about 40% of all pathogenic/probably pathogenic genomic imbalances found in short stature patients of unknown cause. Conclusion: CNVs seem to play a significant role in patients with short stature. Chromosomal microarray should be used as a diagnostic tool for evaluation of growth disorders, especially for syndromic short stature of unknown cause.

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“…The recently published international guideline for SRS provides guidance for targeted genetic testing based on clinical characteristics [24]. In addition, based on our data, we recommend adding the serum concentrations of IGF-2, IGF-1, and IGFBP-3 to the clinical characteristics used for targeted genetic testing.…”

Section: Discussionmentioning

confidence: 99%

The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome

et al. 2017

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Background/Aims: Recently, we have described a family of 4 members presenting with intrauterine and postnatal growth failure, low IGF-2 levels, and signs of Silver-Russell syndrome (SRS) who carried a genomic IGF2 mutation. Here, we assess the value of IGF-2 in relation to SRS. Methods: We collected data from 48 SRS children and 48 short children born small for gestational age (SGA) seen at our center. The SRS children were 4.6 ± 2.0 years of age, and the SGA children were 4.8 ± 1.8 years of age. All patients were prepubertal and growth hormone naive. An 11p15 ICR1 loss of methylation (11p15LOM) was present in 22, maternal uniparental disomy of chromosome 7 (upd(7)mat) in 7, and IGF2 genomic mutation (IGF2mut) in 3 patients. Growth factors were measured by in-house radioimmunoassays. Results: The median IGF-2 standard deviation scores (SDSs) were: IGF2mut –1.75, upd(7)mat –1.69, nonsyndromic SGA –1.52, 11p15LOM –0.61, and clinical (tested negative) –0.55. The median IGF-2:IGF-1 concentration ratio was 2.57 in IGF2mut compared to 5.44 in 11p15LOM (p = 0.036), 7.84 in clinical, and 7.98 in upd(7)mat. Upd(7)mat patients had significantly lower IGF-1 and IGFBP-3 SDSs than patients with 11p15LOM (p ≤ 0.002). Conclusion: Serum IGF-2 in combination with IGF-1 and IGFBP-3 can add to the clinical signs of SRS patients and help to perform targeted genetic testing. Further studies are needed.

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Diagnosis and management of Silver–Russell syndrome: first international consensus statement

Cited by 358 publications

References 149 publications

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Growth Hormone Improves Short-Term Growth in Patients with Temple Syndrome

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause

The Diagnostic Value of IGF-2 and the IGF/IGFBP-3 System in Silver-Russell Syndrome

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