Endocrine dysfunction in Prader-Willi syndrome: a review with special reference to GH.
Prader-Willi syndrome is a genetic disorder occurring in 1 in 10,000-16,000 live-born infants. In the general population, approximately 60 people in every 1,000,000 are affected. The condition is characterized by short stature, low lean body mass, muscular hypotonia, mental retardation, behavioral abnormalities, dysmorphic features, and excessive appetite with progressive obesity. Furthermore, morbidity and mortality are high, probably as a result of gross obesity. Most patients have reduced GH secretory capacity and hypogonadotropic hypogonadism, suggesting hypothalamic-pituitary dysfunction. Replacement of GH and/or sex hormones may therefore be beneficial in Prader-Willi syndrome, and several clinical trials have now evaluated GH replacement therapy in affected children. Results of GH treatment have been encouraging: improved growth, increased lean body mass, and reduced fat mass. There was also some evidence of improvements in respiratory function and physical activity. The long-term benefits of GH treatment are, however, still to be established. Similarly, the role of sex hormone replacement therapy needs to be clarified as few data exist on its efficacy and potential benefits. In summary, Prader-Willi syndrome is a disabling condition associated with GH deficiency and hypogonadism. More active treatment of these endocrine disorders is likely to benefit affected individuals.
Burman
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Pharmacia Corporation, SE-112 87 Stockholm, Sweden. pia.burman@eu.pnu.com
Ritzén
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EM
Lindgren
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AC
D000293:Adolescent; D000328:Adult; D002648:Child; D002884:Chromosomes, Human, Pair 15; D005260:Female; D012739:Gonadal Steroid Hormones / Q000627:therapeutic use; D020249:Hormone Replacement Therapy; D019382:Human Growth Hormone / Q000172:deficiency / Q000502:physiology* / Q000627:therapeutic use; D006801:Humans; D007006:Hypogonadism; D008607:Intellectual Disability; D008297:Male; D009765:Obesity / Q000150:complications; D011218:Prader-Willi Syndrome / Q000150:complications / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology*; D011627:Puberty
D012739:Gonadal Steroid Hormones; D019382:Human Growth Hormone