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Growth hormone therapy in Prader–Willi Syndrome

International Journal of Obesity volume 25, pages 2–7 (2001)Cite this article

Prader–Willi syndrome (PWS) was originally described less than 50 y ago,1 although reference to children with characteristics of the syndrome are to be found in other literature previous to this.2 Until relatively recently the diagnosis was made upon the clinical features as outlined by Holm,3 which include severe muscular hypotonia in the neonatal period leading to feeding difficulties and undernutrition, hypogonadism and later hyperphagia and obesity. Latterly the syndrome has been identified as being associated with an interstitial deletion of the q11–13 region on chromosome 15.4 In the majority of cases the deletion is in the paternally derived chromosome. In the remainder of cases there seems to be a failure to inherit the entire paternal chromosome and as a consequence both the chromosomes inherited are maternal, thus leading to maternal disomy.

The prevalence of the syndrome varies in the literature but a consensus view might be a figure of 1 in 10 000 births. The syndrome is an extremely debilitating disorder that in many cases places great stress on the families concerned. As an example of the magnitude of the population with the syndrome, it has been estimated that there are between 17 000 and 22 000 individuals in the USA with PWS. Thus, although a rare disorder, it is one of the 10 most common conditions seen at genetic clinics and the most common genetic cause of obesity. Some common features of the syndrome are shown in Table 1. Although there are many and varied problems associated with the syndrome, during childhood and adolescence the major problem is profound and marked hyperphagia leading, in most cases, to massive and morbid obesity. Children and young adults with PWS therefore suffer many of the common effects of obesity and many die prematurely due to illness associated with excessive body weight.

Table 1 Common features of PWS
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  1. School of Human Movement Studies, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia

    PSW Davies

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Davies, P. Growth hormone therapy in Prader–Willi Syndrome. Int J Obes 25, 2–7 (2001). https://doi.org/10.1038/sj.ijo.0801518

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