Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion

Prader-Willi syndrome is characterized by a typical clinical phenotype and by a complex genetic basis that includes large deletions, uniparental disom y and imprinting mutations of chromosome region 15q11-q13. This report deli neates the clinical characteristics, morbidity and growth hormone secretory status of 19 adults with Prader-Willi syndrome, The patients were 18-34 ye ars of age. Morbidity included marked obesity with body mass index in exces s of 30 kg/m(2) (grade 1-3 according to WHO), metabolic diseases, sleep apn oea and lipolymphoedema. Severe growth hormone deficiency (GHD) was seen in 38% of the patients, and levels of insulin-like growth factor I were decre ased in 87%. Thus, GHD is seen, not only in children with Prader-Willi synd rome, but also in adults with the syndrome. (C) 2000 Harcourt Publishers Lt d.