EFFECT OF GROWTH HORMONE THERAPY IN CHILDREN WITH PRADER-WILLI SYNDROME - OUR FIRST EXPERIENCES

Abstract

- Prader-Willi syndrome (PWS) is the most common cause of morbid obesity in childhood. It is the consequence of the lack of expression of genes on the paternally inherited 15q11.2-q13 region. Hyperphagia, obesity, short stature, psychomotor retardation and deterioration of behavior predominate in clinical presentation. Recombinant human growth hormone (rhGH) therapy, along with restriction of caloric intake, has become the mainstay in the management of PWS patients. Anthropometric parameters (height, body mass index (BMI)), therapy effect on carbohydrate and lipid metabolism, and occurrence of side effects were monitored in four children with PWS treated with rhGH for ≥2 years at doses of up to 1 mg/m²/day. During the follow-up, the height standard deviation score (SDS) increased in comparison with baseline values, and after ≥2 years of treatment with rhGH it was within the reference range for the general children population. BMI SDS decreased after the first year of treatment, but thereafter increased again; still, the level of BMI SDS was much better in comparison with most children with PWS of the same age and gender. RhGH therapy had no negative effect on glucose and lipid metabolism, nor caused any other adverse effect. Therapy including a customized diet for PWS, along with rhGH therapy, provided a satisfactory growth rate and prevented development of morbid obesity without side effects. This treatment approach would ensure transition of a greater number of PWS patients into adult care, where the multidisciplinary approach in care should be continued.

Keywords: Energy intake; Human growth hormone – therapeutic use; Obesity, morbid; Paternal inheritance; Prader-Willi syndrome.

Fig. 1

Growth parameters (height SDS, BMI SDS) in PWS patients during RhGH therapy. SDS = standard deviation score; BMI = body mass index; PWS = Prader-Willi syndrome; RhGH = recombinant human growth hormone