Is growth hormone treatment a long term benefit for patients with Silver Russell syndrome?

NIHR Research for Patient Benefit


Dr Justin Davies, 02381 20 6985

Silver Russell syndrome is a rare genetic disorder of growth which starts in the womb and which significantly restricts final height (between 140-150 cm). It is usually due to a genetic fault on chromosome 11. At present children are offered Growth Hormone (GH) to improve adult height by about 4cm even though patients are not necessarily GH deficient and families don’t know if there are any potential long term risks with treatment. There are few studies on the outcome of the disorder in adults or whether GH makes a difference in this particular syndrome compared to other causes of short stature and low birth weight. Not much is known about adult life with SRS or whether patients are particularly susceptible to early onset metabolic disease like diabetes or heart disease. The genes causing SRS are predicted to alter metabolism and GH may be more or less beneficial in this subgroup. This study, therefore, is to investigate patients with SRS from around the UK measuring height, quality of life, factors which indicate metabolic disease like lipid levels, weight, BP and blood sugar levels and compare SRS patients with the same genetic cause who have been given GH with those who have not been given the treatment. At the same time we will interview a subgroup of adults with SRS to identify important themes in people's life experiences.
Start Date: 01/09/2014
End Date: 01/09/2018

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