Prader-Willi syndrome and growth hormone treatment

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Prader-Willi syndrome is a genetic syndrome that includes short stature, cognitive and behavioral problems, and obesity. Although there is clearly an excess of adipose tissue, there is also a deficiency of lean body mass, including muscle mass in Prader-Willi syndrome.

In this issue of The Journal, Eiholzer et al and Fillion et al report on different aspects of the use of growth hormone treatment in patients with Prader-Willi syndrome. Eiholzer et al evaluated the relationship of foot growth to musculoskeletal loading, finding that foot growth is positively associated with musculoskeletal loading. This means that the small feet often observed in children with Prader-Willi syndrome may be more related to decreased musculoskeletal loading from physical activity than another dysmorphic feature.

Fillion et al evaluated relative risks and benefits of growth hormone therapy in a retrospective study. They found that growth hormone therapy in a clinical setting did not improve body composition, but did appear to be related to the development of obstructive sleep apnea, which has been described as a potentially serious side effect of growth hormone treatment in patients with Prader-Willi syndrome. Obstructive sleep apnea may be related to hypertrophy of the tonsils and adenoids which can occur with growth hormone treatment. They suggest that parental control of access to food and encouragement of increased physical activity may be more important than growth hormone treatment in improving body composition.