Early manifestations of Prader-Willi syndrome: influence of growth hormone

U Eiholzer1, M Schlumpf, Y Nordmann

  • 1Foundation Growth Puberty Adolescence, Zürich, Switzerland. mail@childgrowth.org

Insights

Growth hormone (GH) treatment in infants with Prader-Willi syndrome (PWS) normalizes growth and body proportions. Early GH intervention in PWS children may improve body composition and motor development, warranting further long-term studies.

Area of Science:

  • Pediatrics
  • Genetics
  • Endocrinology

Background:

  • Prader-Willi syndrome (PWS) is increasingly diagnosed in infants due to genetic confirmation.
  • Infants with PWS often exhibit features suggestive of early growth hormone (GH) deficiency, including low birth weight and poor growth.
  • The optimal timing for initiating GH treatment in PWS patients remains an important clinical question.

Purpose of the Study:

  • To evaluate the effects of early exogenous growth hormone (GH) treatment in very young children diagnosed with Prader-Willi syndrome (PWS).

Main Methods:

  • A study involving ten very young children with PWS (mean age 1.0 year) treated with exogenous GH.
  • Assessment of growth, body composition, and motor development in treated children.

Main Results:

  • GH treatment normalized growth and body proportions in young PWS children.
  • GH treatment likely reduced fat mass and increased muscle mass.
  • Potential enhancement of motor development was observed.
  • GH treatment is crucial but not sufficient for normalizing body composition and fat distribution.

Conclusions:

  • Early GH treatment in children with Prader-Willi syndrome normalizes growth and body proportions.
  • GH therapy may positively impact body composition and motor development in PWS.
  • Longer-term studies are needed to confirm the benefits of initiating GH treatment at a very early age in PWS patients.

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