ESPE Abstracts

Introduction: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growth hormone (rhGH) therapy is recommended by the international scientific literature and must be started as soon as the diagnostic is made.

Material and method: A total of 45 genetically confirmed children with PWS (24 males) followed between 2004 and 2022 were retrospectively analysed. Height, weight, and body mass index were expressed as standard deviation scores (SDSs) according to Spanish child growth standards. Bone age has been assessed according to the Greulich and Pyle atlas, and to assess the delay or advance of the bone ages with respect to the chronological ones, bone age/ chronological age ratio. Comparisons were made using nonparametric tests.

Results: The mean age at the start of the treatment was 4.4 years and at the third year it was 8. Median height SDS increased during 3 years of rhGH in infants from -1.24 (-3.99 to 1.75) SDS to 0.2 (-2.22 – 3.25) SDS. Mid parental height SDS was 0.23 SDS. The mean bone age at the beginning of the treatment is delayed with respect to the chronological age, producing a statistically significant acceleration with the administration of rhGH. With the treatment there is a statistically significant increase in the mean sizes with a gain of 1.44 S.D.S. The body mass index does not suffer significant variations with the treatment. No serious adverse events were reported.

Conclusions: Recombinant human growth hormone therapy in PWS improved growth in infants and child. Changes in body composition and behavior with rhGH have been demonstrated in other studies. Multidisciplinary studies are necessary to assess the positive effect of growth hormone treatment in these patients.