Health Problem: Prader-Willi syndrome (PWS) is a genetic disorder that is highly variable and can affect multiple body systems; there is an associated pattern of physical findings with significant cognitive, neurologic, endocrine, and behavioral abnormalities. Studies in the United States have reported a prevalence rate ranging from 1 per 16,062 to 1 per 25,000 population. Management of PWS focuses on its complications and is age dependent. Growth hormone (GH) therapy has become standard care to normalize height and improve mobility, activity levels, and body composition (increase lean body mass, decrease fat mass).

Technology Description: In adults with PWS, an evaluation of the GH/insulin-like growth factor 1 (IGF-1) axis before recombinant human GH (rhGH) treatment is recommended. The starting dose of rhGH in adults with PWS is 0.1 to 0.2 milligrams per day based on age, presence of edema, prior rhGH exposure and sensitivity, and comcomitant oral estrogen use. The dosage should be titrated based on clinical response, and age- and sex-appropriate IGF-1 levels. Patients receiving rhGH treatment should be followed carefully by an endocrinologist for potential adverse effects during treatment.

Controversy: There do not appear to be any controversies regarding the use of rhGH for the treatment of adults with PWS, other than the lack of evidence in this population.

Key Questions:

In adults with PWS:

  • Is rhGH effective in managing abnormal body composition and its associated metabolic dysfunction and improving clinical outcomes, cognitive function, cardiovascular outcomes, or quality of life?

  • Is rhGH effective compared with placebo?

  • What is the effect of rhGH on health outcomes compared with age- and sex-matched obese individuals without PWS not treated with rhGH?

  • Is the use of rhGH safe?

  • Have definitive patient selection criteria been identified for the use of rhGH?

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