ABSTRACTS: Oral Presentation Abstracts
Introduction: PWS is a genetic disorder localized to 15q11.2–13 and characterized by obesity, hypogonadism, and hypopituitarism along with features of growth hormone (GH) deficiency. Prior short-term studies have shown improvement in height, muscle function and body composition. Little long-term data currently exists regarding body composition, growth and complications of GH therapy.
Methods: IRB-approved retrospective chart review of patients with PWS followed in the PWS clinic at Texas Children’s Hospital between 1988–2002. Patients were divided into 2 GH-treated groups (between 0 – 5 years treatment and greater than 5 years GH treatment) and an untreated group. Regression analyses were performed on the outcomes of height z-scores, body mass index z-scores, percent body fat (via total body electrical conductivity (TOBEC)), and percent lean mass (via TOBEC), and clinical evidence for scoliosis utilizing the STATA command regress (StataCorp 2001).
Results: A total of 84 patients (54.8% male) with PWS were enrolled. 53 (63.1%) patients were deletion, 14 patients (16.7%) were UPD, 1 patient (1.1%) had an imprinting mutation, and 16 patients (19.1%) had no genetic information. The age at the initial visit ranged from 0–35 years, with a mean age of 6.19 +/− 6.97 years and median age of 3.90 years. 49 patients received no GH treatment, 25 patients had GH treatment for up to 5 years, 10 patients had GH treatment for at least 5 years. 2 patients had GH treatment discontinued due to development of diabetes. There was a significant difference in BMI slope between long-term GH treated versus untreated controls (p<0.001). There were also significant differences in height z-scores, percent lean mass and percent body fat (39.95% fat untreated vs. 36.07% fat in GH-treated) between treated and controls. When we looked at the association of scoliosis and GH, we found that 18 of 27 (66.7%) in the control group, 10 of 22 (45.5%) in the less than 5 year treated group and 7 of 10 (70%) of the greater than 5 year treated developed scoliosis.
Conclusion: GH treatment appears to have long-term beneficial effects on body composition, and linear growth.