Growth hormone receptor (GHR) gene polymorphism and prader-willi syndrome
نویسندگان
چکیده
منابع مشابه
Prader-Willi Syndrome and Growth Hormone Deficiency
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...
متن کاملGrowth charts for non-growth hormone treated Prader-Willi syndrome.
OBJECTIVE The goal of this study was to generate and report standardized growth curves for weight, height, head circumference, and BMI for non-growth hormone-treated white male and female US subjects with Prader-Willi syndrome (PWS) between 3 and 18 years of age and develop standardized growth charts. METHODS Anthropometric measures (N = 133) were obtained according to standard methods from 1...
متن کاملGrowth hormone therapy for Prader–willi syndrome: challenges and solutions
Prader-Willi syndrome (PWS) is characterized by a dysregulation of growth hormone (GH)/insulin-like growth factor I axis, as the consequence of a complex hypothalamic involvement. PWS' clinical picture seems to resemble the classic non-PWS GH deficiency (GHD), including short stature, excessive body fat, decreased muscle mass, and impaired quality of life. GH therapy is able to ameliorate the p...
متن کاملGrowth hormone therapy in children with Prader-Willi syndrome.
Prader-Willi syndrome (PWS) is a chromosomal disorder and growth failure is a common presentation. Growth hormone (GH) treatment is beneficial in PWS although the optimal age for starting GH is unknown. We investigated whether GH response in PWS was associated with the age of GH commencement by comparing 16 children who commenced GH before 3 years of age (early group) with 40 children who comme...
متن کاملGrowth Hormone Therapy in Adults with Prader-Willi Syndrome
Prader-Willi syndrome (PWS) is characterized by hyperphagia, obesity if food intake is not strictly controlled, abnormal body composition with decreased lean body mass and increased fat mass, decreased basal metabolic rate, short stature, low muscle tone, cognitive disability, and hypogonadism. In addition to improvements in linear growth, the benefits of growth hormone therapy on body composit...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2013
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.35980