Endocrine Dysfunction in Prader-Willi Syndrome: A Review with Special Reference to GH
Pia Burman,
E. Martin Ritzén and
Ann Christin Lindgren
Pharmacia Corporation, SE-112 87 Stockholm, Sweden (P.B.)
and Department of Woman and Child Health, Karolinska Institute, SE-171
76 Stockholm, Sweden (E.M.R., A.C.L.)
Correspondence: Address all correspondence and requests for reprints to: Pia Burman, M.D., Ph.D., Pharmacia Corporation, Lindhagensgatan 126, SE-112 87 Stockholm, Sweden. E-mail: pia.burman{at}eu.pnu.com
Prader-Willi syndrome is a genetic disorder occurring in 1 in
10,000–16,000live-born infants. In the general population,
approximately60 people in every 1,000,000 are affected. The condition
ischaracterized by short stature, low lean body mass, muscular
hypotonia,mental retardation, behavioral abnormalities, dysmorphic
features,and excessive appetite with progressive obesity. Furthermore,
morbidityand mortality are high, probably as a result of gross
obesity.Most patients have reduced GH secretory capacity and
hypogonadotropichypogonadism, suggesting hypothalamic-pituitary
dysfunction.Replacement of GH and/or sex hormones may therefore be
beneficialin Prader-Willi syndrome, and several clinical trials have
nowevaluated GH replacement therapy in affected children. Resultsof
GH treatment have been encouraging: improved growth, increasedlean
body mass, and reduced fat mass. There was also some evidenceof
improvements in respiratory function and physical activity.The
long-term benefits of GH treatment are, however, still tobe
established. Similarly, the role of sex hormone replacementtherapy
needs to be clarified as few data exist on its efficacyand potential
benefits. In summary, Prader-Willi syndrome isa disabling condition
associated with GH deficiency and hypogonadism.More active treatment
of these endocrine disorders is likelyto benefit affected
individuals.
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