The evolving phenotype and long-term outcomes of Silver-Russell syndrome and the effects of childhood growth hormone treatment

Abstract

Silver-Russell syndrome (SRS) is a disorder which causes pre- and postnatal growth failure. Maternal uniparental disomy for chromosome 7 and loss of methylation of the intergenic H19/IGF2 differentially methylated region at chromosome 11p15 are reported in 50-60% of cases. Birth weight is known to be inversely associated with adult cardiovascular disease and metabolic abnormalities, therefore low birth weight in patients with SRS may be associated with increased risk of cardiovascular and metabolic disease. However, adults with SRS are not routinely followed up and only recently has specific guidance on potential complications and a consensus on the management been published.

Growth hormone treatment in children born small for gestational age is known to increase muscle mass and reduce fat mass during treatment as well as increasing adult height. Specifically in SRS, growth hormone treatment has been shown to increase height velocity and the limited data available has suggested increased adult height. Furthermore, there is a paucity of evidence on body composition in SRS, quality of life in individuals with SRS, and whether or not growth hormone treatment affects these.

This thesis presents the work undertaken in a study of the adult phenotype of SRS. The objectives were to: recruit individuals aged ≥13 years with molecularly confirmed SRS; assess body composition, metabolic health and risk factors for cardiovascular disease; evaluate their quality of life, and compare those treated with growth hormone in childhood with those who did not receive treatment.

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Identifiers

ORCID for Oluwakemi Lokulo-Sodipe: orcid.org/0000-0002-8169-3384

ORCID for Karen Temple: orcid.org/0000-0002-6045-1781

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