Growth Hormone Treatment Does Not Alter Lower Limb Asymmetry in Children with Russell-Silver Syndrome

Rizzo, V.; Traggiai, Cristina; Stanhope, R

doi:10.1159/000048102

Cited by 11 publications

(8 citation statements)

References 8 publications

(6 reference statements)

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“…Limb asymmetry can affect the arms, legs or both. In seven patients with clinically diagnosed SRS, limb length discrepancy was not significantly affected by GH treatment 144 . Limb lengthening surgery performed to equalize limb lengths in patients with SRS has shown positive results 145 .…”

Section: Neurocognitive Problemsmentioning

confidence: 80%

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

et al. 2016

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Section: Neurocognitive Problemsmentioning

confidence: 80%

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

et al. 2016

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“…Our hypothesis of a mosaicism with a higher degree of ICR1 hypomethylation at the shorter body side could not be confirmed in bilaterally-obtained probes of oral mucosa and skin. Our observation renders it unlikely that the postnatal persistence of asymmetric growth in the adolescent SRS patients [4] is due to a persisting long side-short side ICR1 hypomethylation difference. Epigenetic mechanisms causing body asymmetry may be restricted to the intrauterine development.…”

Section: Discussionmentioning

confidence: 94%

“…It is diagnosed on the basis of the combination of intrauterine growth retardation, severe short stature, characteristic triangular face, relative macrocephaly, body asymmetry, underweight, and several minor abnormalities [1-3]. The relative limb length differences in asymmetric SRS patients are present at birth and stay stable during the growth process [4]. Short stature in SRS can be treated with pharmacological doses of recombinant growth hormone [5].…”

Section: Introductionmentioning

confidence: 99%

IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome

et al. 2012

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BackgroundSilver-Russell syndrome (SRS) is characterized by severe intrauterine and postnatal growth failure and frequent body asymmetry. Half of the patients with SRS carry a DNA hypomethylation of the imprinting center region 1 (ICR1) of the insulin-like growth factor 2 (IGF2)/H19 locus, and the clinical phenotype is most severe in these patients. We aimed to elucidate the epigenetic basis of asymmetry in SRS and the cellular consequences of the ICR1 hypomethylation.ResultsThe ICR1 methylation status was analyzed in blood and in addition in buccal smear probes and cultured fibroblasts obtained from punch biopsies taken from the two body halves of 5 SRS patients and 3 controls. We found that the ICR1 hypomethylation in SRS patients was stronger in blood leukocytes and oral mucosa cells than in fibroblasts. ICR1 CpG sites were affected differently. The severity of hypomethylation was not correlated to body asymmetry. IGF2 expression and IGF-II secretion of fibroblasts were not correlated to the degree of ICR1 hypomethylation. SRS fibroblasts responded well to stimulation by recombinant human IGF-I or IGF-II, with proliferation rates comparable with controls. Clonal expansion of primary fibroblasts confirmed the complexity of the cellular mosaicism.ConclusionsWe conclude that the ICR1 hypomethylation SRS is tissue, cell, and CpG site specific. The correlation of the ICR1 hypomethylation to IGF2 and H19 expression is not strict, may depend on the investigated tissue, and may become evident only in case of more severe methylation defects. The body asymmetry in juvenile SRS patients is not related to a corresponding ICR1 hypomethylation gradient, rendering more likely an intrauterine origin of asymmetry. Overall, it may be instrumental to consider not only the ICR1 methylation status as decisive for IGF2/H19 expression regulation.

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“…Information about the possible adverse events during GH treatment in children with SRS is also limited. In a study (44), it was shown that GH treatment does not increase skeletal asymmetry. On the other hand, there is concern about development of insulin resistance in children with SRS treated with GH (38).…”

Section: Silver-russell Syndromementioning

confidence: 99%

Syndromic Disorders with Short Stature

Şıklar¹,

Berberoğlu²

2014

Jcrpe

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Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively.

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Growth Hormone Treatment Does Not Alter Lower Limb Asymmetry in Children with Russell-Silver Syndrome

Cited by 11 publications

References 8 publications

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

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

IGF2/H19 hypomethylation is tissue, cell, and CpG site dependent and not correlated with body asymmetry in adolescents with Silver-Russell syndrome

Syndromic Disorders with Short Stature

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