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 disomy and imprinting mutations of chromosome region 15q11-q13. This report delineates the clinical characteristics, morbidity and growth hormone secretory status of 19 adults with Prader-Willi syndrome. The patients were 18-34 years of age. Morbidity included marked obesity with body mass index in excess of 30 kg/m2 (grade 1-3 according to WHO), metabolic diseases, sleep apnoea and lipolymphoedema. Severe growth hormone deficiency (GHD) was seen in 38% of the patients, and levels of insulin-like growth factor I were decreased in 87%. Thus, GHD is seen, not only in children with Prader-Willi syndrome, but also in adults with the syndrome.
Partsch
C J
CJ
Department of Pediatrics, Christian-Albrechts-University of Kiel, Germany. Partsch-C-J@t-online.de
Lämmer
C
C
Gillessen-Kaesbach
G
G
Pankau
R
R
D000293:Adolescent; D000328:Adult; D015992:Body Mass Index; D004487:Edema / Q000209:etiology; D005260:Female; D013006:Growth Hormone / Q000096:biosynthesis* / Q000172:deficiency; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000096:biosynthesis; D008297:Male; D008659:Metabolic Diseases / Q000209:etiology; D009765:Obesity / Q000209:etiology; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000150:complications / Q000175:diagnosis* / Q000378:metabolism*; D012891:Sleep Apnea Syndromes / Q000209:etiology
D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone