ESPE Abstracts

Context: Clinical findings characterizing PWS are muscular hypotonia, abnormal body composition, developmental delay, behavioral problems, hyperphagia with obesity when food intake is not restricted and short stature. Endocrine problems are described, like hypogonadism, hypothyroidism and adrenal insufficiency and growth hormone (GH) deficiency. Hypothalamic dysfunction may be responsible for many features of PWS. Randomized controlled studies showed that GH treatment in children with PWS improves linear growth, body composition, bone mineral density, lipid profiles, cognition and physical strength. Over the years, the age at start of GH treatment has become younger. Studies evaluating the long-term effects and safety of starting GH during infancy versus at later age are very limited.

Objective: To investigate whether the age at start of GH treatment is associated with body composition, anthropometric parameters, cognitive functioning and scoliosis after 8 years of GH and to determine the safety of starting GH treatment in the first year of life.

Methods: Prospective study in 76* children with PWS, who used GH during 8 years and started GH before the age of 5. DXA-scans, X-rays, IQ-tests (WISC) and anthropometric measurements were annually performed and blood samples were analysed.

Results: 20 children started GH between 0-1 years (group A), 39 between 1-3 years (group B) and 17 between 3-5 years (group C). There were no differences in gender or genetic subtype between the groups. At GH start, the older children had a higher weight (P < 0.001) and a higher fat percentage (P = 0.016). After 8 years of GH treatment, group A tended to have the lowest fat mass % SDS and trunk fat/peripheral fat ratio (P = 0.072 and P = 0.057, resp.). Median (IQR) estimated total IQ in groups A to C was 74.0 (69.4;81.0), 68.2 (59.5;80.5) and 59.4 (50.7;87.8), resp. (P = 0.25). No differences were found on Cobb angle of the spine or metabolic parameters.

Conclusion: Starting GH in the first year of life was, after 8 years of treatment, tended to be associated with a better body composition. There were no safety issues. In children with PWS it is, therefore, beneficial to start GH treatment as early as possible, preferably during the first year of life.

*7 visits still coming up in the next weeks.