title: Prader-Willi syndrome and growth hormone deficiency.
abstract: Prader-Willi syndrome (PWS) is a rare multisystem genetic disorder demonstrating great variability with changing clinical features during patient's life. It is characterized by severe hypotonia with poor sucking and feeding difficulties in early infancy, followed by excessive eating and gradual development of morbid obesity in later infancy or early childhood. The phenotype is most probably due to hypothalamic dysfunction which is also responsible for growth hormone (GH) and thyroid-stimulating hormone (TSH) deficiencies, central adrenal insufficiency and hypogonadism. The multidimensional problems of patients with PWS can be managed with multidisciplinary approach. Reduced GH secretion, low peak GH response to stimulation, decreased spontaneous GH secretion and low serum IGF-1 levels in PWS patients have been documented in many studies. GH therapy has multiple beneficial effects on growth and body composition, motor and mental development in PWS patients. The recommended dosage for GH is 0.5-1 mg/m2/day. GH therapy should not be started in the presence of obstructive sleep apnea syndrome, adenotonsillar hypertrophy, severe obesity and diabetes mellitus. GH treatment should be considered for patients with genetically confirmed PWS in conjunction with dietary, environmental and life-style measures.
authors.affiliation: Kayseri Training and Education Hospital, Department of Pediatric Endocrinology, Kayseri, Turkey. veyselnijatbas@gmail.com.
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Veysel Nijat
authors.initials: VN
authors.lastname: Baş
mesh_terms: D000293:Adolescent; D000328:Adult; D001823:Body Composition / Q000187:drug effects; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000188:drug therapy; D005260:Female; D013006:Growth Hormone / Q000172:deficiency*; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D008297:Male; D009767:Obesity, Morbid / Q000503:physiopathology / Q000517:prevention & control; D011218:Prader-Willi Syndrome / Q000150:complications / Q000178:diet therapy / Q000188:drug therapy* / Q000503:physiopathology
chemical_list: D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone