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Endocrine Abstracts (2013) 31 P112 | DOI: 10.1530/endoabs.31.P112

St Georges Healthcare NHS Trust, London, UK.


Prader–Willi syndrome (PWS) is a genetic syndrome caused by a disorder of chromosome 15 (q11–13) are deleted or unexpressed on the paternal chromosome. It affects both sexes equally.

Characteristics of PWS include hypotonia, hyperphagia with excessive weight gain, short stature delayed puberty and hypogonadism. Individuals with PWS are at risk of learning and attention difficulties.

Most adults with PWS have deficiencies of GH or the GH/IGF axis and suffer similar body composition abnormalities compared with both children with PWS and adults with GH deficiency.

GH replacement in children with PWS is well accepted and extensively used. Studies suggest that GH therapy may be beneficial in adults with PWS GH use in PWS adults remains controversial due to effects of GH on glucose homeostasis, the metabolic syndrome (MS), and other obesity- and age-related comorbidities in overweight and obese PWS adults. We describe a series of adult patients treated with GH at St George’s Hospital. Theses patients showed initial weight loss with stabilisation of weight. There was improvement in their behaviour with increase in energy levels and better quality of life. The GH was well tolerated with increase in IGF1, and without deterioration in glucose metabolism. One patient had significant GH-mediated water retention during dosage optimization. This suggests judicious GH initiation, dosage adjustment, and careful monitoring.

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