ESPE Abstracts

Background: Prader-Willi syndrome (PWS) is a rare genetic obesity syndrome associated with relative growth hormone deficiency. Scoliosis is a known association of both PWS and growth hormone therapy (GH), although its role in causation remains uncertain. In the literature, short-term and long-term data revealed no adverse effects of GH on scoliosis. As the metabolic and clinical benefit of growth hormone therapy is established in the management of PWS, it is difficult to conduct a randomized controlled trial of the effect of growth hormone therapy in PWS. However, the potential adverse effects of growth hormone therapy remain an important consideration. This study aims to determine whether growth hormone therapy increases the risk of scoliosis in children with PWS.

Design and Method: This is a retrospective, descriptive study evaluating data of patients aged 0-18 years with PWS, who received growth hormone therapy between March 1992- December 2022. Scoliosis was defined as Cobb’s angle of more than 10 degrees; with severity based on Cobb’s angle categorized as mild 11-20; moderate 21-40; severe >40 degrees.

Results: This cohort comprised of 73 patients aged 0-18 years (female 53%) from 1992-2022. Scoliosis was detected in 34% of patients (a total of 25; 14 females: 11 males). Mild scoliosis was diagnosed in 3 patients, moderate scoliosis in 10 patients, and severe scoliosis in 12 patients. The mean age at which scoliosis was first diagnosed was 9.12 years. Out of the 25 patients, 9 required braces to minimize the progression of scoliosis and 11 patients underwent spine surgery. There was no statistical difference in the median maximum growth hormone dose among the patients with scoliosis was 7.6mg/m2/week [IQR 7.45- 7.77] vs. patients without scoliosis 7.4 mg/m2/week [IQR 6.74-8.06] (P=0.17). In generalized estimating equations, sex, age, initial height, weight and maximum growth hormone dose per body surface area were not significant predictors of scoliosis.

Conclusion: In this single-center study spanning 3 decades, there were no significant clinical predictors identified in the presence of scoliosis in children with PWS. Our results suggest that the presence of scoliosis should not limit the routine dose of GH therapy in PWS. As described previously, our findings confirm the high prevalence of scoliosis in PWS and thus the need for close surveillance.